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Autism Spectrum Disorders

Description

Other Names

Pervasive developmental disorder, not otherwise specified (NOS)
Asperger syndrome (or disorder)

ICD-9

299.0, Autistic disorder, Infantile autism, Primary autism

299.9, Pervasive developmental disorder NOS

299.8, Other pervasive developmental disorders (Asperger disorder)

These ICD-9 Codes are for the primary diagnosis. Additional detail and codes for related diagnoses can be found in Autism ICD9(PDF Document 77 KB).

Description

Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders defined by qualitative impairments in communication and social interactions, restricted interests and activities, and stereotypical behaviors. Abnormalities in these three developmental areas tend to cluster together in affected individuals. All individuals with ASD have qualitative abnormalities of social development in combination with disorders of communication and/or stereotyped repetitive interests and behaviors. The social skills that develop naturally in typically-developing children do not do so in children with ASD. There are many behaviors and deficits that relate to each of the three domains mentioned above. As children with ASD mature, these characteristics can change but the ASD diagnosis remains.

ASD are part of a larger continuum of disorders called Pervasive Developmental Disorders that also includes Rett Syndrome and Childhood Disintegrative Disorder. Autism spectrum disorders refer to Autistic disorder (AD), Pervasive developmental disorder, not otherwise specified (PDD-NOS), and Asperger syndrome (AS). The 5th edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V), to be published in 2013, will combine these under the single diagnosis of Autism Spectrum Disorder.

Prior to 1990, the prevalence of global developmental delay or intellectual disability among individuals with autism was estimated to be approximately 90%. More recent studies have reported rates of co-occurring intellectual disability in the range of 25-50%. Neither developmental delay nor cognitive impairment are required for an ASD diagnosis. [Johnson: 2007]

Individuals with ASD may experience other cognitive, emotional, and behavioral disorders. Since these associated problems are not present in all affected individuals, they are not part of the criteria for ASD. They do, however, occur relatively frequently, can have significant impact upon daily functioning, and are therefore important to recognize and treat.

Subtypes of autism spectrum disorders – See the Autism Spectrum Disorders, Clinical Assessment Diagnostic Criteria section, below.

Prevalence

The Autism and Developmental Disabilities Monitoring Network, a study of ASD among 8 year olds in 11 sites across the US, reported a prevalence of 14.7 per 1,000 children.Autism is almost 5 times more likely to be identified boys than girls. About 1 in 42 boys and 1 in 189 girls were identified with ASD. [Autism: 2012] White children were more likely to be identified with ASD than black or Hispanic children. About 1 in 63 white children, 1 in 81 black children, and 1 in 93 Hispanic children were identified with ASD.

This estimate is roughly 30% higher than the estimate for 2008, roughly 60% higher than the estimate for 2006 (1 in 110), and roughly 120% higher than the estimates for 2002 and 2000 (1 in 150). The explanation for this increase is not clear. It may reflect changes in diagnostic criteria, increased awareness of ASD as physicians and other healthcare providers are encouraged to regularly screen for them, and/or increased media attention and public knowledge. That children with ASD are eligible for additional services in schools likely helped to raise awareness. [Duchan: 2012] A recent epidemiologic study of regions around the world that have been previously underrepresented reported median prevalence estimates of 62/10,000 (one in 161). [Elsabbagh: 2012]

Partnerships between primary care clinicians and autism diagnosticians are needed to develop effective and efficient methods of systematic screening. A recent study in a community-based pediatric practice found that a systematic autism screening program of children ages 14-30 months identified several children with early signs of autism before they were of concern to their physicians or caregivers. This suggests that diagnosis of children with ASD may be delayed if screening is only performed at well-child visits and that the uninsured population may be affected the most. [Miller: 2011]

Genetics

ASD are known to be highly heritable, yet the exact cause remains unknown. The concordance rate for identical twins having autistic disorder is about 60%, increasing to as high as 92% when a broader definition of autism spectrum disorders is used. [Bailey: 1995] [Hallmayer: 2011] They are more common in boys, with a male:female ratio of 4:1. In 6-15% of cases, ASD are associated with a medical condition or a known syndrome such as Down syndrome, fragile X syndrome, or tuberous sclerosis. The majority of cases, however, have no clear etiology. [Schaefer: 2008]

When one sibling is affected, the risk for subsequent children having an autism spectrum disorder is 7-19% ([Ritvo: 1989], [Constantino: 2010]), and about 32% if more than one older sibling is affected. [Ozonoff: 2011]

A large number of genes have been associated with ASD, and individuals with ASD show great variation in language abilities, social skills, and behaviors. These factors suggest that autism may represent a common manifestation of multiple genetic disorders. Newer testing modalities are increasing the diagnostic yield. Current estimates suggest an etiologic diagnosis can be made 25-40% of the time. [Miles: 2011] [Schaefer: 2013] As such, a genetic evaluation should be offered to every family once an ASD diagnosis is made. For a comprehensive review of the genes known to be associated with ASD, please see Autism (OMIM).

Prognosis

Prognosis depends on many factors and is difficult to predict, particularly in the young child. Important factors include level of cognitive functioning, the presence of epilepsy or other medical comorbidities, joint attention skills, and functional play skills. [Johnson: 2007] While most children diagnosed with an ASD retain their diagnosis at age 9 years old, many show considerable improvement, particularly those initially diagnosed with PDD-NOS. [Lord: 2006] In one study, up to 37% of children diagnosed at 2 years of age no longer met criteria for an ASD at 4 years. These children tended to have milder autism features (especially in the social domain), higher cognitive abilities, and were 30 months or younger at the initial assessment. The exact reason for these findings is unclear, but may reflect specific factors in this patient population, improvements from early interventions, or the difficulties in making an accurate diagnosis of ASD at younger ages. [Turner: 2007]

Favorable prognostic factors include early identification and appropriate behavioral intervention, as well as successful inclusion with typically-developing peers in mainstream educational and community settings. Poorer outcomes are associated with the presence of intellectual disability, epilepsy, no functional use of language by 5 years, comorbid medical/genetic conditions, and comorbid psychiatric disorders. [Johnson: 2007]

A twenty-year follow-up study of adults with autism and average or near-average intellectual abilities found that half were rated as functioning on a “good” or “very good” level based on a global outcome measure. Fifty-four percent were employed in full or part-time jobs. Despite this, only about 12% lived independently and 56% lived with their parents. [Farley: 2009] About 75% of children with both intellectual disability and an autism spectrum disorder will require long-term social and educational supports. [Mefford: 2012]

Roles Of The Medical Home

The Medical Home should be aware of community resources available for behavioral and educational management of children with autism spectrum disorders (ASD). The primary care provider may consider prescribing medications to address significant behavioral problems or consulting with a child psychiatrist or behavioral health specialist when appropriate.

Practice Guidelines

The following clinical reports from the American Academy of Pediatrics (AAP) and American Academy of Neurology and Child Neurology Society provide detailed information and guidelines regarding the diagnosis and management of autism spectrum disorders. These practice guidelines are still the most current within their respective publishing organizations as of May 20, 2012.

Filipek PA, Accardo PJ, Ashwal S, Baranek GT, Cook EH Jr, Dawson G, Gordon B, Gravel JS, Johnson CP, Kallen RJ, Levy SE, Minshew NJ, Ozonoff S, Prizant BM, Rapin I, Rogers SJ, Stone WL, Teplin SW, Tuchman RF, Volkmar FR.
Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society.
Neurology. 2000;55(4):468-79. PubMed abstract / Full Text

Johnson CP, Myers SM.
Identification and evaluation of children with autism spectrum disorders.
Pediatrics. 2007;120(5):1183-215. PubMed abstract

Myers SM, Johnson CP.
Management of children with autism spectrum disorders.
Pediatrics. 2007;120(5):1162-82. PubMed abstract / Full Text

Helpful Articles

PubMed search for review articles on Autism in children for last 3 years.

Johnson CP.
Recognition of autism before age 2 years.
Pediatr Rev. 2008;29(3):86-96. PubMed abstract

Chan JM, O'Reilly MF.
A Social Stories intervention package for students with autism in inclusive classroom settings.
J Appl Behav Anal. 2008;41(3):405-9. PubMed abstract / Full Text

Jan JE, Owens JA, Weiss MD, Johnson KP, Wasdell MB, Freeman RD, Ipsiroglu OS.
Sleep hygiene for children with neurodevelopmental disabilities.
Pediatrics. 2008;122(6):1343-50. PubMed abstract

Vismara LA, Rogers SJ.
Behavioral Treatments in Autism Spectrum Disorder: What Do We Know?.
Annu Rev Clin Psychol. 2010;6:447-68. / Full Text
This article provides a selective review of applied behavior analysis (ABA) intervention approaches, some of which are designed as comprehensive programs, and others which are directed toward a more specific set of goals. Both types of approaches have been shown to be effective in improving communication, social skills, and management of problem behavior for children with autism spectrum disorder (ASD).

Soares NS, Patel DR.
Office screening and early identification of children with autism.
Pediatr Clin North Am. 2012;59(1):89-102, x-xi. PubMed abstract / Full Text
This article focuses on autism/autistic disorder screening and its early identification, with a brief mention for Asperger Syndrome (AS) screening, as there are limited tools and no recommendation for universal screening for AS.

Kleinman JM, Robins DL, Ventola PE, Pandey J, Boorstein HC, Esser EL, Wilson LB, Rosenthal MA, Sutera S, Verbalis AD, Barton M, Hodgson S, Green J, Dumont-Mathieu T, Volkmar F, Chawarska K, Klin A, Fein D.
The modified checklist for autism in toddlers: a follow-up study investigating the early detection of autism spectrum disorders.
J Autism Dev Disord. 2008;38(5):827-39. PubMed abstract

Robins DL.
Screening for autism spectrum disorders in primary care settings.
Autism. 2008;12(5):537-56. PubMed abstract

Clinical Assessment

Overview

Each child undergoing evaluation for autism or other developmental delay requires an individualized assessment. The manifestations of the core features of autism vary between individuals and within the same individual at different developmental stages. Variation in associated cognitive, neurological, and psychiatric features is extensive.

Though some parents may identify concerns before 18 months of age, the average age of diagnosis is closer to 4 years old for autistic disorder. Later diagnosis can occur with Asperger disorder, PDD NOS, or in those with access to fewer health care resources, as in rural or economically disadvantaged areas. [Zwaigenbaum: 2009]

Early diagnosis of ASD can facilitate early interventions, potentially leading to better outcomes, with decreased severity of ASD symptoms and comorbid conditions, by guiding the child’s brain and behavioral development in more adaptive ways. [Dawson: 2008]

The goals of assessment are to:
  • Recognize children who have developmental signs that could result from ASD
  • Determine if the child meets criteria for ASD, while considering other diagnoses
  • Rule out possible causal medical or genetic factors
  • Describe the child's unique pattern of cognitive strengths and weaknesses
  • Identify any associated impairing neurological or psychiatric problems
  • Understand how all of the child's difficulties come together to impair his/her adaptive functioning and impact the family

Periodic reevaluation of a child with ASD may be indicated:
  • For children who were diagnosed under 3 years old
  • If the initial testing results were uncertain
  • If there is a marked decline in function
  • During times of transition, like starting school
Though many children retain their ASD diagnosis, their personal strengths and needs can change over time. When children are of school age, testing of cognitive and adaptive functioning can be completed in the school setting. [Huerta: 2012]

Ongoing assessment of the child with an ASD should include monitoring for medical and behavioral/psychiatric comorbidities, assessment of adaptive and educational progress, and evaluation of family stress and function.

Screening

For The Condition

The AAP recommends that all children be screened for ASD with an autism-specific tool at the 18 month and the 24 or 30 month well-child assessments. It is important to re-screen children for ASD after the 18 month visit since one in four children with an ASD can have regression of previously acquired skills, especially language, around 18 to 24 months. [Soares: 2012] While recent evidence suggests that earlier identification and diagnosis is possible, autism-specific screening tools have not been validated for children younger than 18 months. While none of the readily available screening measures combine high sensitivity, specificity, and positive predictive value, some can be useful. Screening tools are not diagnostic tests – concerning results on a screening test must be confirmed with a formal evaluation.

The M-CHAT: The Modified Checklist for Autism in Toddlers was created to screen for autism from 16-30 months of age. It is a 23 item parent questionnaire which may include a follow-up interview in the office or over the telephone. Screening positive involves failing any 3 items on the screener or two of the six critical items. Failed items should be reviewed in a follow-up telephone/office interview, resulting in a referral for a full diagnostic evaluation if the questions are still considered “failing.” In children with positive screens on the M-CHAT, the follow-up interview is very important because it raises the positive predictive value from only 0.36 to 0.74. This is especially true for low-risk children. It is suggested when screening low-risk children to have someone review answers on site or over the phone to avoid unnecessary parent concern and/or referrals. [Kleinman: 2008]
The Infant/Toddler Checklist from the Communication and Symbolic Behavior Scales Developmental Profile(PDF Document 56 KB) focuses on social and communication skills and may be useful in screening children from 6-24 months of age. (Recommended in AAP guidelines for children under 18 months old.)

Consider using the SCQ:Social Communication Questionnaire for individuals over 4 years of age in whom there are concerns for having an autism spectrum disorder. This tool may be used for individuals with or without ID/MR.
  • The SCQ was originally designed for epidemiologic research.
  • It contains 40 yes/no questions, takes about 10 minutes to complete, and can be used in the primary care setting or mailed to and completed by parents at home. The SCQ is a cost-effective screening tool to determine whether an individual should be referred for a comprehensive evaluation.
  • The SCQ is available from Western Psychological Services at a cost of approximately $1.50 each when ordered in packs of 20. Western Psychological Services/Social Communication Questionnaire

Learning modules have been created to familiarize clinicians with autism screening tools. The Vermont Interdisciplinary Leadership Education for Health Professionals has developed helpful programs that include slides on the use of the SCQ, M-CHAT, and other screening tools. To access these, see Vermont Interdisciplinary Leadership Education for Health Professionals (VT-ILEHP) Autism Learning Resources [Soares: 2012]

Appropriate screening tools, coupled with observation of the child in the office, can help identify children at risk who should be referred for further evaluation. In the exam room, watch how the child interacts with his or her parents and uses eye contact with them.

Also try to engage them in a social game like peek-a-boo to see if they will engage in this activity or draw others’ attention to interesting things around them. [Zwaigenbaum: 2009]

Despite concerns for cost and logistic difficulties in universal screening for ASD, an outpatient pediatric setting was able to implement universal screening in a cost-effective manner when addressed from an organizational level utilizing nurses, physicians, and other clinic support staff. [Gura: 2011]

Of Family Members

The AAP recommends that all children be screened for autism spectrum disorders with an autism-specific tool at the 18 month and the 24 or 30 month well-child assessments. Having one child in a family with an ASD raises the risk that siblings will have an ASD.

For Complications

All children with ASD should be screened for a seizure disorder by history. Consider referral for EEG if history of regression is present in early development. In addition, normal hearing should always be documented in any child with an ASD diagnosis.

Presentations

Speech and language delay. Children on the autism spectrum often present with parental concern of language delay between 15 and 18 months of age. About 25% of children with ASD begin saying a few words but then regress in language skills between the ages of 15-24 months. In addition to delayed speech, children on the autism spectrum typically display a lack of desire to communicate and a lack of compensatory non-verbal gestures. Some children, particularly those with normal cognitive functioning, may gesture toward a desired object but do not also look to the caregiver's face to communicate their need or desire. Some children on the autism spectrum will develop speech at an early age but it may be non-fluent, rote, or characterized by echolalia (atypical word repetition where the child repeats a word or phrase using the same intonation).

Social skills deficits. While social skills deficits are more specific than language deficits for an ASD, they often go unrecognized by parents and clinicians during the first two years of life. In the very young child, deficits in social skills are manifested by a lack of normal joint attention, during which an infant or young child participates with a caregiver in a back-and-forth manner to share an enjoyable experience. Typically-developing children begin to point at objects by 14-16 months of age to comment or indicate an interest. Children with ASD may gesture to indicate a need or desire but consistently fail to use pointing to "comment" on objects or events. [Johnson: 2008]

Social referencing refers to a child's seeking out and recognizing the emotional state of others as they respond to new events or stimuli in their environment. A typically developing child will look to his caregiver when faced with a new situation to detect their emotional state, something children on the autism spectrum may not do. Children with ASD can have difficulty engaging in age-appropriate social behavior making it harder to develop appropriate relationships with peers. Other abnormal social behaviors in infants and toddlers with ASD can include poor eye contact, lack of social smile or imitating, not orienting to name call, decreased interest in others, and abnormal facial affect to communicate with others or relate their internal experience. [Barbaro: 2009]

Repetitive/stereotypic patterns of behavior, restricted interests. Stereotypies are repetitive, atypical, ritualistic behaviors, such as hand flapping, finger flicking, rocking, twirling, unusual eye gaze, repetitive toe-walking, and pacing. These behaviors vary considerably between individuals and can change over time within the same person. Stereotypies themselves are usually harmless, although they may impair the ability to acquire new skills and to function in social settings. Some repetitive behaviors, such as hand flapping and jumping, may be seen in normal toddlers as an expression of excitement or anxiety. Other unusual behaviors, particularly those involving visual stimulation (e.g., fixation on visual patterns, looking at objects out of the corner of the eye, staring at objects up close), are more likely to represent a neurodevelopmental disorder such as ASD.

Some stereotypies are self-injurious (head banging, self-biting, picking at skin) and occur more commonly in those with global developmental delay or intellectual disability. Stereotypic behaviors are not as specific to ASD as the social and communication problems are. These behaviors can be seen in children with vision problems, global developmental delay, or intellectual disability. [Johnson: 2008]

Atypical play skills. ASD are characterized by lack of or delayed imaginative play skills. These children may engage in ritualistic or persistent sensorimotor play. For example, they may prefer to repetitively line up or spin the wheels of toy trains rather than driving them. They may learn to engage in some forms of pretend play, but this typically involves the rote learning of limited play scenarios that are repeated. Children on the autism spectrum may prefer sensorimotor play, such as rough-and-tumble play, or playing computer and puzzle-type games.

Diagnostic Criteria

  • DSM-IV Diagnostic Criteria for Autism(PDF Document 970 KB)
    • Criteria include deficits in social skills, communication, and behaviors, interests, and activities that manifest before 3 years old.
  • DSM-IV Diagnostic Criteria for Asperger Syndrome(PDF Document 968 KB)
    • Criteria include deficits in social skills and behaviors, interests, and activities that manifest before 3 years old with normal intellectual abilities.
  • The diagnosis of PDD-NOS should be used when there is a severe and pervasive impairment in the development of reciprocal social interaction, associated with impairment in either verbal or nonverbal communication skills or with the presence of stereotyped behavior, interests, and activities, but the criteria are not met for a specific Pervasive Developmental Disorder (e.g., autism or Asperger syndrome), Schizophrenia, Schizotypal Personality Disorder, or Avoidant Personality Disorder

Proposed Diagnostic Changes in 2013: In May 2013, the 5th edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM V) is planned to be released. It is anticipated that a new classification of autism spectrum disorders will be categorized under Neurodevelopmental Disorders. The new classification will eliminate the distinctions of Autistic disorder, Asperger’s disorder, Childhood disintegrative disorder, and PDD NOS and classify them into a single diagnosis of Autism Spectrum Disorder. Symptom domains are decreased to 2 categories including “Social/Communication Deficits” and “Fixed interests and repetitive behaviors.” Severity criteria are added to aid the clinician to understand the level of support the patient requires. Symptoms no longer have to begin before the age of 3. Rather, they must be present in early childhood. Most children on the autism spectrum will fall into one of the categories below:

Autistic disorder: Involves significant impairment in all three domains with onset before 3 years of age. Alternative names are autism, infantile autism, primary autism. A subtype is "high-functioning autism," in which cognitive functioning is in the normal to superior range. Cognitive functioning in children with autism can range from profound intellectual disability to superior intelligence and verbal ability can range from absent to articulate speech.

Asperger syndrome: Involves significant impairment in social interaction and range of interests and activities, similar to a child with autism. Children with Asperger syndrome, however, do not experience delayed onset of language. Their communication may be impaired by an inability to read social cues, making socially inappropriate comments, or having a narrow focus of interest. Cognitive function is within the normal range.

Pervasive developmental disorder, NOS: This diagnosis is applied to the child with some characteristics of an ASD, but who does not meet full criteria for Autistic Disorder or Asperger Syndrome. They may meet criteria for autism in the social or communication domain and may show some impairment in the other domains. It could also apply to a child with global developmental delay who demonstrates impairment in some, but not all, of the three developmental domains involved in ASD.

The term high-functioning autism is sometimes used to describe a child with autistic disorder that has average or above-average cognitive function.

Differential Diagnosis

  • Intellectual disability (ID) without autism. Some children meet criteria for both ID and autism or PDD-NOS. Most children with ID, however, do not have autism.
  • Specific language disorder. These children have a significant delay in language development and may have difficulty learning how to read. Impaired language development can also affect a child's social functioning. Children with isolated language delay do not have the triad of impairments characteristic of ASD.
  • Deafness. Though deaf children may have great difficulty learning to talk, they usually have normal use of non-verbal behaviors (gestures, mime, facial expression) to communicate.
  • Selective mutism. Children with selective mutism speak and behave normally at home with their families but are functionally mute in other environments.
  • Reactive attachment disorder. Children who have experienced social/emotional neglect and maltreatment may develop some of the clinical features of ASD. When they are placed in a nurturing, stimulating environment and are well cared for, the "autistic" features spontaneously improve.
  • Childhood disintegrative disorder. Children with this rare disorder develop normally until approximately 2 years of age or older, but then experience a major deterioration that may involve language, social interaction, and play, but the deterioration is more severe than in autism and also involves adaptive and motor skills.
  • Rett syndrome. Rett syndrome occurs predominantly in girls and is characterized by normal development until about 5 months of age, after which there is decline in the rate of head and brain growth and severe developmental regression. The regression involves motor functioning, language and social functioning, and adaptive skills. These children become unsteady when they walk or sit, lose purposeful hand movements, and develop stereotypic midline hand movements. Intellectual disability and seizures usually develop.
  • Dementia. Children with isolated dementia have a significant decline in intellectual functioning, usually due to head trauma or some other serious medical disorder.
  • Obsessive compulsive disorder. Many children with ASD meet criteria for obsessive compulsive disorder (OCD), particularly when they are older. Most children with OCD, however, do not meet criteria for an ASD.
  • Stereotypy habit disorder. This disorder describes children affected by ID who have impairing stereotypic motor mannerisms but do not meet other criteria for an ASD.
  • Landau-Kleffner syndrome (LKS). This syndrome, also called acquired epileptic dysphasia, is characterized by normal language development followed by loss of language. The loss of language in Landau-Kleffner Syndrome typically occurs after 3 years of age and is associated with a relative sparing of social skills. This deterioration in language is associated with characteristic seizure activity in the temporal lobe of the brain. Children with isolated LKS do not meet criteria for an ASD.
  • Schizophrenia. Schizophrenia, like autism, is a developmental disorder in which impairments in social and emotional functioning, changes in language functioning, and stereotypies and other unusual behaviors may occur. The onset of schizophrenia is later than that of autism and usually later than other ASD. Onset of schizophrenia is rare during childhood and usually occurs during late adolescence or adulthood. The hallmark clinical signs are hallucinations and delusions. Schizophrenia occurs in about 1% of the general population and rarely in older individuals with ASD.
  • Schizoid, schizotypal, and avoidant personality disorder. Individuals with these disorders, in isolation, may have some of the social and emotional features seen in some individuals with ASD (social avoidance, social anxiety, lack of social interest). They do not typically meet diagnostic criteria for ASD.

Medical Conditions Causing Autism Spectrum Disorders

Genetic syndromes that may be associated with ASD:
  • Fragile X syndrome – Features of ASD are found in 30-50% of individuals with the fragile X mutation, whereas only 3-4% of individuals with autism and normal cognitive functioning have that mutation. In individuals with ASD and comorbid intellectual disability, the incidence of the fragile X mutation is 8%. Features suggestive of fragile X include ID, macrocephaly, protuberant ears, hyperextensible joints, hypotonia, and post-pubertal macroorchidism.
  • Tuberous sclerosis is a neurocutaneous disorder characterized by ash-leaf spots (hypopigmented macules), fibroangiomata, intellectual disability, renal and CNS hamartoma, and seizures. Greater than 50% of individuals with tuberous sclerosis will have features suggestive of an ASD, particularly if cortical tubers are present in the temporal lobe of the brain. Examination with a Wood's lamp may be necessary to detect cutaneous markers.
  • Neurofibromatosis is characterized by cafe-au-lait macules, axillary and inguinal freckling, ocular Lisch nodules, and neurofibromas. Unlike tuberous sclerosis, a minority of individuals with neurofibromatosis display features of autism.
  • Untreated phenylketonuria was historically associated with a significant number of cases of ASD and ID. With newborn screening and dietary intervention, this is a currently a rare disorder.
  • Angelman syndrome is associated with global developmental delay in early childhood, with initial hypotonia, progressive spasticity, and seizures. These children are often non-verbal and may display social and behavioral characteristics suggestive of an ASD.
  • Fetal alcohol syndrome. In-utero exposure to alcohol is associated with ASD, as well as other neurodevelopmental complications.
  • Down syndrome. It is estimated that 6-7% of children with Down syndrome meet criteria for an ASD. [Johnson: 2007]
  • Many other single gene disorders including mutations in MECP2 and PTEN (see table 5 in [Schaefer: 2013]).

Comorbid Conditions

  • Epilepsy. The prevalence of seizure disorders in individuals with ASD is estimated to be 30%. The risk for developing seizures is higher in individuals with severe intellectual disability. In those with normal or borderline cognition, no associated medical disorder, and no family history of epilepsy, only 6-8% will develop seizures.
  • Sleep disturbances are very common, regardless of level of cognitive ability. In the absence of an etiologic medical factor, such as obstructive sleep apnea, periodic limb movement disorder, and gastroesophageal reflux, management should focus on sleep hygiene, behaviors such as bedtime opposition, and limitation of daytime sleep.
  • Gastrointestinal disorders. Children with ASD suffer from gastrointestinal symptoms, such as constipation, diarrhea, vomiting, and abdominal pain, as often, and perhaps more often, than do other children. The prevalence has been reported as high as 70% in some studies. [Buie: 2010]
  • Sensory Integration/Processing Challenges. Many children with ASD seem to benefit from sensory-based therapies. The DSM-5 diagnostic criteria for ASD will include a criterion regarding hyper-or hypo-reactivity to sensory input or unusual interest in sensory aspects of the environment in these children. Children with ASD can present with abnormal sensory behaviors, such as appearing to be under or overstimulated by certain sensory conditions. Despite the lack of a widely accepted framework for diagnosing sensory processing disorder, some occupational therapists use sensory-based therapies in children with ASD.

A standardized measure, called the Short Sensory Profile, can be used to screen children for these problems. It is unclear whether children with sensory problems have a defined disorder of the brain pathways leading to these deficits, or if these problems are merely symptoms associated with other behavioral or developmental disorders. Observational studies and case series have reported positive outcomes with sensory integration therapy, but the data is limited regarding the efficacy. The AAP recommends not using sensory processing disorder as a diagnosis at this time. If a child’s therapist is using sensory-based therapies, help families assess progress with specific, measurable treatment goals using behavior diaries or rating scales. [Zimmer: 2012]

Pearls & Alerts

The American Academy of Neurology and Child Neurology Society suggest that the following "red flags" are absolute indications for an immediate evaluation for autism:

  • No babbling or pointing or other gesture by 12 months
  • No single words by 16 months
  • No 2-word spontaneous (non-echolalic) phrases by 24 months
  • ANY loss of ANY language or social skills at ANY age [Filipek: 2000]

The following signs may indicate the presence of an autism spectrum disorder in a child less than 18 months of age:
  • Lack of appropriate gaze
  • Lack of warm, joyful expression with gaze
  • Lack of alternating patterns of vocalizations between infant and caregiver that usually begins at approximately 6 months of age
  • Lack of recognition of consistent caregiver's voice
  • Disregard for vocalizations (such as lack of response to name), yet keen awareness of environmental sounds
  • Onset of babbling delayed beyond 9 months of age
  • Decreased use of pre-speech gestures (pointing, waving, showing)
  • Lack of expressions such as "uh-oh" [Johnson: 2007]

About 30% of children with ASD develop seizures, but this varies with demographic factors.[Tuchman: 2010] Children with co-occurring intellectual disability have the highest rate of seizure disorders. There is a bimodal distribution in their onset – some with peak incidence in early childhood and others at the onset of puberty. Consider new-onset of seizure activity as a possible cause of acute behavior changes in the adolescent, particularly in those with intellectual disability. [Jeste: 2011]

A score of "fail" on the M-CHAT or other screening tool is not diagnostic for an autism spectrum disorder.

A child with a concerning score should be referred for a developmental evaluation.

History & Examination

In evaluating a child with a suspected ASD, a detailed history and physical examination should be performed, focusing on the presence of atypical features that might suggest a genetic syndrome and the presence of neurologic deficits that might reveal an underlying diagnosis.

As with all children, the ongoing management should include monitoring growth parameters and developmental progress. The clinician should remain alert for the presence of medical, behavioral, and psychiatric comorbidities.

Family History

Inquire specifically about a family history of autism, Asperger syndrome, fragile X syndrome, tuberous sclerosis, and intellectual disability. Inquire also about psychiatric and other neurobehavioral conditions.

Pregnancy Or Perinatal History

Review history of pregnancy, labor, delivery, and neonatal course to consider co-occurring conditions that could contribute to the etiology. Inquire about prenatal exposure to teratogens (ethanol, thalidomide, valproic acid) or infections (rubella) known to be associated with ASD.

Current & Past Medical History

  • Current and past medical history: inquire about history of genetic disorders, seizures, encephalopathic events, neurologic disorders. Inquire about symptoms relating to disorders of attention, mood, anxiety, and attachment.
  • Disordered sleep is common and can contribute to daytime behavioral problems. A detailed sleep history should be obtained including bedtime routine, sleep onset and duration, the presence of snoring or restlessness, daytime sleeping (naps) and fatigue.
  • Children with ASD often experience aversion to certain oral textures, severely restricted food choices, and poor self-feeding skills requiring significant feeding support. Inquire about use of dietary restriction to manage symptoms.
  • Gastrointestinal disturbances are common in children with ASD. Discomfort due to abdominal pain or constipation may contribute to behavior problems and difficulties in toilet training.
  • Use of medications, both prescription and supplements/complementary/alternative medications
  • Behavioral concerns in the home and in educational settings
  • Frequency, duration, and type of developmental therapies utilized (speech, occupational, behavioral)

Developmental & Educational Progress

  • Language. Inquire about the use of verbal and non-verbal communication (e.g., sign language), the age of onset, and about any regression in their use. Ask about receptive language skills as well.
  • Gross motor skills. Some children have delayed gross motor skills with poor motor planning and/or mild hypotonia, while others have typical or advanced gross motor skills.
  • Fine motor/adaptive skills. Children with ASD may have difficulties in motor planning or limited ability to attend, impairing their ability to learn new skills. They may show advanced skills when it comes to preferred activities (favorite games/toys, computer keyboard use) but delays in age-appropriate tasks, such as drawing, dressing, or eating with utensils.
  • Early Intervention. For the child less than 3 years of age, ask about involvement in an Early Intervention program, the type(s) of therapy being received (speech, occupational, behavioral, play therapy), their frequency and duration, and whether the developmental goals are being met.
  • Individualized Education Plan. Children who are over the age of 3 should have an Individualized Education Plan (IEP) in place. Inquire whether the child is meeting IEP goals and making appropriate developmental strides.
  • Other therapy. Assess the potential benefit of private speech, occupational, and/or behavioral therapy services outside of the Early Intervention or school setting.

Social & Family Functioning

Inquire about the social and emotional functioning of family members and support of extended family. Family members of children with ASD suffer more stress, anxiety, and depression than those of typically developing children or children with other forms of disabilities. A study using the Autism Parenting Stress Index, a measure of parenting stress related autism, found that parents of children with ASD had four times higher stress levels compared to parents of children without ASD and twice the levels of parents whose children had other developmental delays. [Silva: 2012] The heterogeneity and unpredictable course of children with ASD can contribute to parents’ frustration, especially when combined with long waiting lists for assessments and expectations for improvement that don’t match the child’s developmental trajectory. Families may also struggle with major life adjustments, such as a parent leaving their job to help coordinate treatment or needing to pay out of pocket for services not covered by other means. It may also be difficult to cope with the symptoms of ASD, such as lack of social relatedness or ability to communicate one’s needs. Managing problematic behaviors at home can also be difficult for families. [Martínez-Pedraza: 2009]

Physical Exam

General

Note dysmorphic features that could indicate an underlying genetic syndrome. Observe level of anxiety, irritability, and difficulty with transitions. Note receptive and expressive language skills and the presence of repetitive behaviors.

Growth Parameters

Measure growth parameters, including an head circumference. Macrocephaly may suggest fragile X syndrome, although macrocephaly is common in children with autism without fragile X. Microcephaly is an uncommon finding in persons with ASD. When present it should prompt a more detailed investigation, including consideration of Rett syndrome for girls and neuroimaging for patients of either gender. Atypical antipsychotics may cause excessive weight gain. Poor weight gain may be seen in children with an overly restrictive diet or in those using stimulant medications.

Skin

Examine the skin for café-au-lait macules, ash-leaf spots, and other neurocutaneous stigmata. Note excoriations/scars, lesions, and other evidence of self-injurious behavior or repetitive skin picking.

HEENT

Note ear size, shape, and placement. Individuals with fragile X syndrome may have large ears. Strabismus or nystagmus may be present in individuals with fragile X and other genetic syndromes. Visual difficulties may contribute to behavioral problems.

In a child with acute worsening of behavior, examine for otitis media, sinusitis, and pharyngitis. A non-verbal child may not be able to articulate discomfort and instead may present with behavioral difficulties.

Mouth/Teeth

Individuals with bruxism, oral sensitivity, and/or poor dental hygiene will be at risk for caries and require regular dental care. Abnormalities of dentition or the palate may suggest a genetic etiology.

Heart

Cardiac murmurs or defects may suggest a genetic syndrome.

Abdomen

Acute or chronic abdominal pain may cause a change in behavior in the child unable to verbalize discomfort. A palpable fecal mass may be present in children with chronic constipation.

Extremities/Musculoskeletal

Examine for atypical or dysmorphic features. Evaluate for ankle flexion contractures related to chronic toe-walking.

Neurologic Exam

Children with ASD may have normal or decreased muscle tone. Hypertonicity and/or hyperreflexia should prompt evaluation for an underlying neurologic disorder. Walking on their toes, which is common in ASD, may lead to calf hypertrophy and, at times, limited ankle dorsiflexion. Calf hypertrophy must be distinguished from the pseudohypertrophy seen in muscular dystrophy, which may also involve language and other developmental delays. Changes in muscle tone or other focal findings may suggest an alternative or co-occurring diagnosis. Though repetitive/stereotypic behavior is the only motor problem among the diagnostic criteria for ASD, delays and deficits can be seen in multiple areas, including fine and gross motor skills, gait and coordination, motor planning, and postural control. When evaluating gait, observe for toe-walking, variable length of stride and timing, ataxia, incoordination, or problems with postural stability. [Jeste: 2011]

Testing

Sensory Testing

Audiologic evaluation is important for any child with suspected language and social delays, even if the neonatal hearing screen was passed. If behavioral audiometry is inconclusive, a brainstem auditory evoked response (BAER) should be performed.

Laboratory Testing

  • Serum lead screening may be indicated for children with a history of pica or global delay and those who mouth non-food items.
  • Assess thyroid function (TSH and free T4) in those with global delay.
  • Consider obtaining a CBC and serum ferritin in children with disordered/restless sleep.
  • Creatine phosphokinase (CPK) in children with gross motor delay and hypotonia, particularly if weakness and/or calf pseudohypertrophy are evident.
  • Metabolic screening with serum amino acids and urine organic acids if any of the following are present:
    • profound ID
    • weakness or easy fatiguability
    • cyclical vomiting or lethargy
    • failure to thrive or poor growth
    • motor regression or severe motor delay
    • unusual odor
    • Note: inborn errors of metabolism do not typically present with isolated autism in the absence of other signs and symptoms.

Imaging

Routine testing with neuroimaging and EEG is NOT indicated in the absence of focal neurological signs, clinical seizures, or microcephaly.
  • Many children on the autism spectrum have idiopathic macrocephaly. Neuroimaging should be performed only if there is concern for intracranial pathology (focal neurologic abnormality, neurocutaneous stigmata, rapid increase in head circumference).
  • Estimated rates of true epilepsy in children with ASD are 5-38%. EEG evaluation is not recommended in the absence of clinical evidence of seizures because insignificant EEG abnormalities are often present.
  • Indications for obtaining an EEG include: history of language regression, tonic/clonic activity, and staring spells that the child cannot be distracted from.
  • The risk of developing seizures increases in individuals with comorbid moderate-to-severe intellectual disability and those with a genetic syndrome.
  • There is a bi-modal distribution of the onset of seizure activity, with peaks in early childhood and again in adolescence. Consider new-onset seizure activity in the adolescent with acute behavior changes, particularly in those individuals with ID. [Johnson: 2007] [Jeste: 2011]

Genetic Testing

Universal genetic screening for children with ASD is recommended, but the cost/benefit ratio is not completely clear. The Practice Parameters from the American Academy of Neurology state that genetic testing is indicated in the child with ASD and intellectual disability (or in whom ID is not ruled out), a family history of fragile X syndrome or undiagnosed ID, or dysmorphic features suggestive of fragile X. Physicians can work with families and insurers to get pre-authorization for the screening. See the Fragile X Syndrome module. [Filipek: 2000] Recent guidelines from the American College of Medical Genetics outline a tiered evaluation for the genetic testing of a person with an ASD. [Schaefer: 2013] These guidelines recommend testing for all individuals with ASD.

Subspecialist Collaborations & Other Resources

The diagnosis of ASD is ideally made by a team of developmental/behavioral specialists and should provide helpful information to assist the primary care clinician in coordinating care with families, schools, and other providers. If such an interdisciplinary team is not available, the subspecialists listed below may be helpful in the initial diagnosis and management of the child with a suspected ASD. It is strongly suggested that the primary care clinician simultaneously refer to a diagnostic team/specialist and to Early Intervention. Because recent evidence supports an association between earlier behavioral intervention and more favorable outcomes, therapeutic intervention should not await diagnostic certainty. [Vismara: 2010] [Warren: 2011]

Developmental Pediatrics (see Services below for relevant providers)

Alone or as part of an interdisciplinary team, may confirm a diagnosis of ASD, assess for comorbid medical/genetic conditions, and assist families in identifying behavioral and educational services. Some have experience in managing medications that target problem behaviors in children on the autism spectrum.

Child Psychiatry (see Services below for relevant providers)

Alone or as part of an interdisciplinary team, may confirm a diagnosis of ASD; will often have knowledge and experience in managing psychotropic medications; may be helpful when behavioral problems persist despite appropriate behavioral interventions and the use of psychotropic medications is being considered.

Audiology (see Services below for relevant providers)

Will perform/guide the audiological evaluation

Child Psychology (see Services below for relevant providers)

Can perform autism-specific diagnostic testing, such as the ADOS (Autism Diagnostic Observation Schedule) and ADI-R (Autism Diagnostic Interview-Revised), considered the gold standard in research applications and diagnostic assessments; can also perform evaluations of cognitive and adaptive function; may assist in the management of maladaptive behaviors.

Occupational Therapy (see Services below for relevant providers)

Define and treat fine motor delays, sensory processing disorders, and feeding issues related to sensory aversions, and provide the family with helpful activities to be performed in the home.

Speech/Language Therapy (see Services below for relevant providers)

Define expressive and receptive language delays, recommend and conduct ongoing treatment. The American Speech-Language-Hearing Association recently published guidelines indicating that experienced speech pathologists can independently make a diagnosis of ASD when no other resources are available. American Speech Language and Hearing Association Position Statement(PDF Document 116 KB)

Pediatric Genetics (see Services below for relevant providers)

Geneticists have recently published guidelines that recommend genetic testing for all individuals diagnosed with an ASD. [Schaefer: 2013] Thus, they recommend all families should be offered such a genetics referral

Pediatric Sleep Medicine (see Services below for relevant providers)

Can help define and treat sleep disorders that do not respond to simple behavioral measures.

Pediatric Dentistry (see Services below for relevant providers)

Often, children with ASD suffer from oral hypersensitivity and/or severe anxiety when faced with a dental examination. Pediatric dentists experienced with children affected by neurodevelopmental disabilities and supported by an experienced pediatric anesthesia team can be very helpful.

Behavioral Pediatrics (see Services below for relevant providers)

Can assist in the assessment and management of problem behaviors and may institute and manage psychotropic medications when needed.

Treatment & Management

Overview

Since there is no cure for the core features of autism, chronic management of these complex children is necessary for optimal outcomes. The main goal is to minimize the impact on development, function, and the family through behavioral, educational, and therapeutic strategies. Routine preventive care, treatment of acute illnesses, and management of co-occurring medical and psychiatric issues are important components of primary care for children with ASD.

If possible, services for individuals with ASD should be provided in the context of a transdisciplinary team approach, which goes beyond a multidisciplinary team with the explicit inclusion of patients/caregivers in the decision-making process from beginning to end. Patients/caregivers join the medical team and contribute to any debate among medical team members as their assessment and plan are discussed. The treatment plan, from its inception, is their plan. This team may also include: developmental pediatrics, child psychiatry, genetics, genetic counseling, gastroenterology, neurology, speech-language pathology, case managers, behaviorists, psychologists, social workers, and selected therapies.

How should common problems be managed differently in children with Autism Spectrum Disorders?

Consider referring to a nutritionist to evaluate dietary habits and provide recommendations to expand diet or help with caloric issues. Referral to occupational therapy can help with implementing sensory diets since many children with ASD have picky eating habits related to sensory issues. Referral to a speech therapist should be considered to target oral aversion behaviors. Consider collaboration with teachers and school personnel to help advocate for school services such as an IEP (Individual Education Plan). Setting up an IEP for a child means they can receive educational supports to the degree their ASD affects their functioning in the classroom. Perform a thorough H & P when children with ASD present with nonspecific issues or parents are reporting changes in their child’s behavior. Parents may suspect illness in their child with an ASD since they have a stronger sense of their child’s baseline health. Keep in mind you should broaden your differential diagnosis with these children. Recognize that children with ASD may not express pain or other symptoms of serious disease. Trust parents about changes from the child’s baseline health status. Broaden your differential diagnosis to allow for these uncertainties. Pseudoephedrine can activate children with ASD. Avoid anticholinergic medications like Benadryl that can contribute to constipation and urinary retention. Children with ASD may be more sensitive to medication effects and side effects. Start with low doses of prescription medications and titrate slowly to effect for better tolerance. Because of language and behavioral impairments, evaluation of common complaints may take more time and thought. Consider medication effects or comorbid medical problems that may present with non-specific complaints.

Growth Or Weight Gain

Consider referring to a nutritionist to evaluate dietary habits and provide recommendations to expand diet or help with caloric issues. Referral to occupational therapy can help with implementing sensory diets since many children with ASD have picky eating habits related to sensory issues. Referral to a speech therapist should be considered to target oral aversion behaviors.

Development (cognitive, motor, language, social-emotional)

Consider collaboration with teachers and school personnel to help advocate for school services such as an IEP (Individual Education Plan). Setting up an IEP for a child means they can receive educational supports to the degree their ASD affects their functioning in the classroom.

Viral Infections

Perform a thorough H & P when children with ASD present with nonspecific issues or parents are reporting changes in their child’s behavior. Parents may suspect illness in their child with an ASD since they have a stronger sense of their child’s baseline health. Keep in mind you should broaden your differential diagnosis with these children.

Bacterial Infections

Recognize that children with ASD may not express pain or other symptoms of serious disease. Trust parents about changes from the child’s baseline health status. Broaden your differential diagnosis to allow for these uncertainties.

Over The Counter Medications

Pseudoephedrine can activate children with ASD. Avoid anticholinergic medications like Benadryl that can contribute to constipation and urinary retention.

Prescription Medications

Children with ASD may be more sensitive to medication effects and side effects. Start with low doses of prescription medications and titrate slowly to effect for better tolerance.

Common Complaints

Because of language and behavioral impairments, evaluation of common complaints may take more time and thought. Consider medication effects or comorbid medical problems that may present with non-specific complaints.

Systems

Learning/Education/Schools

Early educational and behavioral interventions remain the cornerstone of management of autism spectrum disorders and may lead to significant improvement in cognition, communication, adaptive skills, and social skills. Several educational models have been developed and may be categorized as: behavior analytic, developmental, and structured teaching. While these differ significantly, they often share common goals and behavioral techniques.
  • Applied Behavioral Analysis (ABA) uses experimental psychology techniques to increase the frequency of desired behaviors and decrease the frequency of undesired or maladaptive behaviors. This model is the most studied of the therapy-based interventions. Teaching sessions are highly structured and behavioral data is methodically collected. When initiated early and conducted in an intense fashion (30-40 hours per week), ABA-based interventions lead to sustained cognitive gains, improved communication, improved academic functioning, and better global outcomes. Discrete trial training (DTT), a component of ABA, involves breaking down complex skills into smaller components. If these trials are started before a child is 5 years old, it is referred to as early intensive behavioral intervention (EIBI).

    Critics of ABA suggest that skills taught by this method do not generalize well to the natural environment and that such an intense treatment program is prohibitively difficult and costly. Newer approaches using basic ABA methodology with more emphasis on teaching in the natural environment (Incidental Teaching, Pivotal Response Training or Natural Language Paradigm, and mileau teaching) are designed to address issues of generalizability and encourage the spontaneous use of communication. These integrate teaching opportunities in day-to-day activities such as meal, bath, and playtimes. [Vismara: 2010]

  • Developmental Models. Developmental or relationship-based models target the core deficits of autism. Examples include the Denver model/Early Start Denver Model (ESDM), developmental, individual-difference, relationship-based model (DIR), the relationship-development intervention (RDI), and Social Communication/ Emotional Regulation/ Transactional Support (SCERTS). A specific version of the DIR model, commonly referred to as Floortime, emphasizes emotional development, sensory processing and motor planning, and places emphasis on relationships and interactions, using techniques that allow the child to lead interactions while challenging them towards greater mastery of social, emotional, and intellectual abilities. These interventions are often attractive to families because they are play-based and can be readily taught to family members.

    The empiric evidence supporting developmental strategies is limited but growing. The ESDM model was studied in an National Institute of Mental Health (NIMH)-funded randomized controlled trial in 2010 that found intensive delivery of ESDM at home resulted in significant improvements in IQ, language abilities, and scores on the Vineland Adaptive Behavior Scale. [Warren: 2011] Rigorous controlled studies of the DIR (Floortime) model are lacking, but a case review and follow-up study were published by Greenspan & Wieder in 1997 and 2005. [Vismara: 2010] SCERTS was designed to enhance social communication between the parent and child. Parents or teachers are taught to arrange the environment and create facilitative situations for the child to initiate communication during daily routines. [Wetherby: 2006]

  • Structured Teaching. The TEACCH method (Treatment and Education of Autistic and related Communication-handicapped Children) emphasizes organization of the physical environment, structured work and activity sessions, visual schedules and visually structured activities. While it has not been as rigorously studied as ABA, TEACCH is supported by a growing body of empiric evidence effectiveness when implemented in addition to school and residential treatment programming. [Panerai: 2009]

  • The LEAP model, Learning Experiences and Alternate Program for Preschoolers and their Parents, integrates children with ASD with typically-developing peers in preschool early on. The child’s peers are taught to facilitate their social and communication skills and families learn behavioral strategies for improved interactions. [Strain: 2011]

For examples of some of these interventions and how they present in an educational setting, please see Educational Approaches to Autism.

Various social skills interventions have been developed to address the core deficits faced by children with ASD. Carried out individually or in small groups, these may involve the use of social stories, video modeling, or playgroups in which adult facilitators prompt appropriate interactions between participants with positive reinforcement for spontaneous appropriate interactions. A review article by Bohlander, Orlich, and Varley provides detailed information regarding different approaches to social skills training. [Bohlander: 2012]

Social StoriesTM, developed by Carol Gray, have become a popular intervention to target social understanding and behaviors in children with ASD. A short written story portrays accurate social information that can be easily understood by the child. The stories target a behavior or social skill. A good social story will demonstrate the appropriate responses and behavioral expectations associated with different scenarios. They can also target specific skills, such as hygiene skills and communication. Evidence for this intervention has grown since the early 1990s. [Karkhaneh: 2010]

The following may be useful in advising parents about behavioral treatments for their child with ASD.
  1. Encourage parents to use evidence-based models that are available in their community.
  2. Guide families to find providers that are highly trained and qualified.
  3. Help families keep positive but realistic expectations for their child’s outcomes. Encourage them to focus on skill building improvement rather than total recovery.
  4. Collaborate as much as possible with behavioral experts. They may be helpful in assessing medication effectiveness, identify environmental issues that could affect medical issues, or help with treatment compliance. [LeBlanc: 2012]

Subspecialist Collaborations & Other Resources

Autism Treatment/Behavioral Specialists (see Services below for relevant providers)

Provide assessments in the home and/or educational settings and create individualized behavior modification programs. Consultants often use specific behavioral models (Applied Behavioral Analysis, Developmental Model, TEACCH), while some combine methods, tailoring them to the needs of the individual.

Schools for Children with Autism (see Services below for relevant providers)

Programming at such schools varies by the educational model used. Some curricula follow Applied Behavioral Analysis and others use a Developmental Model approach. An increasing number of public school districts are creating autism-specific preschools. While many children benefit from the structure and consistency of an autism-specific school, the literature supports inclusion in a mainstream classroom setting to maximize social and cognitive outcomes.

Social Skills Classes (see Services below for relevant providers)

Classes or interventions may be conducted on an individual basis or in groups, and may involve the use of social stories, video modeling, or facilitated playgroups.

Mental Health/Behavior

Individuals with autism spectrum disorders are at risk for psychiatric comorbidities, such as anxiety disorders, mood disorders, and attention deficit disorder, with or without hyperactivity. Often, such disorders may present with aggression, irritability, or self-injurious behavior. A detailed symptom history, including problem behaviors, antecedents, and consequences, will help identify the underlying disorder. Cognizance of treatments used in ASD is important –up to 35% of children with ASD population take at least one psychotropic medication and up to 70% use complementary and alternative medicine (CAM) treatments. [Anagnostou: 2011]

An anxiety disorder should be considered in a child with aggression or irritability associated with changes in routine, transitions between activities, separation from a caregiver, or interruption of repetitive or obsessive behaviors. Also consider anxiety in the child who demonstrates acute changes in behavior associated with discrete situations that may cause fear. Management of anxiety may include both behavioral and pharmacologic approaches.
  • Behavioral strategies
    • Visual schedules. The use of visual or picture-based schedules may be beneficial in reducing anxiety and undesired behaviors surrounding transitions and changes in routine. Photographs, simple drawings, or computer-generated pictures may be used for visual schedules. Families and educators may also download simple drawings for schedule use from the website Do 2 Learn. Access to all pictures on the site may be obtained for an annual fee. This site also contains a free section with extensive schedule materials for safety issues and activities of daily living.
    • Social StoriesTM describe situations in terms of relevant social cues, perspectives, and common responses in a specifically defined style and format. They can be useful in helping individuals understand situations that cause anxiety and to respond with more appropriate behaviors. For more information, visit The Gray Center Website. A recent review of multiple controlled trials of Social Stories interventions found significant benefit for a variety of outcomes related to social interactions. [Karkhaneh: 2010]
  • Medications for the treatment of anxiety
    • While selective serotonin-reuptake inhibitors (SSRIs) are frequently used to treat anxiety in children with ASD, they do not treat the core symptoms of autism (language delay, social delay, and restrictive interests/repetitive behavior). Their use is supported by several randomized, controlled trials that have shown improvements in irritability and depressive symptoms, tantrums, anxiety, aggression, difficulty with transitions, and some aspects of social interactions and language. SSRIs may cause nausea, drowsiness, gastrointestinal disturbance, agitation, behavioral activation, suicidal ideation, sleep disturbance or other symptoms. SSRI use in children with autism and other neurodevelopmental disabilitiesprovides detailed information regarding the use and adjustment of SSRI medications in individuals with autism and other neurodevelopmental disabilities. It also provides a discussion of recent published studies, including the Cochrane review of SSRIs. [Kolevzon: 2006] [Kaplan: 2012]
    • Alpha-2 agonists may reduce symptoms of anxiety, hyperactivity, and irritability. They may be particularly helpful in patients who experience behavioral activation with SSRIs. Alpha-2 agonists may cause more somnolence than SSRIs. Additional possible adverse effects include, but are not limited to, dry mouth, hypotension, constipation, irritability, and cardiac arrhythmia. See also Alpha-2 agonist use in children with autism. [Handen: 2008] [Ming: 2008]
    • Benzodiazepines. Though they should not be used as a first-line agent in the chronic management of anxiety, long-acting benzodiazepines (such as clonazepam) may be beneficial in individuals who do not tolerate alpha-2 agonists or SSRIs.
    • Atypical antipsychotic medications. Risperidone and aripiprazole have received US Food and Drug Administration approval for the treatment of the symptoms of irritability and aggression in children and adolescents age 6 and older with ASD. This class of medication should not be considered first-line for anxiety in patients with ASD. If a detailed symptom history reveals that irritable and aggressive behavior may be due to underlying anxiety, then an SSRI or alpha-2 agonist may be more appropriate. Antipsychotic medications may be useful, however, if a patient does not tolerate treatment with an SSRI or alpha-2 agonist. These medications may cause appetite increase and weight gain, insulin resistance, dyslipidemia, hyperprolactinemia, extrapyramidal symptoms, tardive dyskinesia, neuroleptic malignant syndrome, QTc prolongation, seizures, anticholinergic symptoms, and sedation. Patients may experience akathisia ("inner restlessness") when doses are titrated up or down. When ready to discontinue, these medications should be tapered over months to avoid excessive akathisia. Atypical antipsychotic medication use in children and adolescents with autism provides further information. [Sharma: 2012] [McPheeters: 2011] [Owen: 2009]
  • Depression. Individuals with ASD may experience depressive symptoms. When considering a diagnosis of depression, take a behavioral history to establish a baseline for the child's disruptive or maladaptive behavior. Compare the patient's current state to his or her baseline, with particular attention to crying spells, enjoyment of activities, interest in being around others, sleep patterns, appetite, and energy level. Note the intensity, frequency, and duration of related maladaptive behaviors. Establish behavioral treatment targets based on the behavioral history obtained.
  • Attention-deficit hyperactivity disorder. Individuals with ASD may also experience symptoms of inattention and hyperactivity, which can impair their ability to acquire new skills and function in the home and school environments. While stimulant medications, such as methylphenidate, are effective in some children with ASD and ADHD symptoms, the response rate is lower than in typically-developing children with isolated ADHD and the potential for adverse effects is higher. Pharmacologic treatment of hyperactivity and inattentiveness in autism spectrum disorders offers further information.

Clinicians should prescribe only medications with which they are familiar, including knowledge of indications and contraindications, potential adverse effects, drug-drug interactions, dosing, and monitoring recommendations. Consultation with a child and adolescent psychiatrist should be considered if a clinician is unfamiliar or uncomfortable with the use of such medications. If regular psychiatric care is not available, consider co-management or phone consultation with a child psychiatrist experienced in the management of children with ASD.

Subspecialist Collaborations & Other Resources

Child Psychiatry (see Services below for relevant providers)

Have the most expertise and experience in use of psychotropic medications, particularly for children with ASD. Access to a psychiatrist may be limited – developing a collaborative relationship with a nearby psychiatrist or two to support co-management of challenging patients can be rewarding.

Autism Clinics (see Services below for relevant providers)

Generally, such clinics bring together specialists from multiple fields to provide comprehensive care. These may include: developmental pediatrics, child psychiatry, genetics, genetic counseling, gastroenterology, neurology, speech-language pathology, case managers, behaviorists, psychologists, social workers, and selected therapies.

Sleep

The prevalence of sleep problems in individuals with ASD, which may significantly impact behavior and family functioning, is 50-80%. Sleep problems are often behaviorally mediated or related to poor sleep hygiene. Other potential causes include obstructive sleep apnea, parasomnias, periodic limb movement disorder, circadian rhythm disturbance, or medical conditions that cause pain, like gastro-esophageal reflux, dental pain, or constipation. If sleep problems are reported, details of sleep onset and duration, nighttime awakenings, snoring and restlessness, and nightmares should guide management strategies.
  • Sleep education and behavioral management is often effective and should be considered first-line treatment. [Johnson: 2008]
  • Melatonin may be effective if a circadian rhythm disturbance is suspected or sleep onset is delayed. [Rossignol: 2011]
  • Clonidine may be effective in reducing sleep latency and nighttime awakenings. [Ming: 2008]
  • Many children with ASD have atypical eating habits which may lead to nutritional deficiencies. Low iron stores have been associated with periodic limb movement disorder (PLMD)/restless leg syndrome (RLS). If sleep is described as restless, consider obtaining a CBC and serum ferritin. Iron supplementation in individuals with PLMD and low serum ferritin may lead to significant sleep improvement. [Dosman: 2007]
  • Consider obstructive sleep apnea as a possible cause of insomnia, especially since hypotonia can be seen in ASD.
  • Shorter duration of sleep has been associated with higher rates of stereotypic behavior, higher severity scores on autism rating scales, and increases in social skills deficits. [Reynolds: 2011]

Subspecialist Collaborations & Other Resources

If sleep problems persist despite behavioral management, medications, such as melatonin and clonidine, may help prolonged sleep latency or frequent nighttime wakenings. Consider referral for a sleep medicine specialist and a sleep study if problems continue.

Pediatric Sleep Medicine (see Services below for relevant providers)

Performs and interprets sleep studies, which can document apnea/hypoxia, periodic limb movements, and other causes of disturbed sleep; can help address behavioral issues affecting sleep and prescribe medications to assist in the onset and maintenance of sleep.

Communication

Many children on the autism spectrum initially learn to communicate using nonverbal methods such as American Sign Language, the Picture Exchange Communication System (PECS), a communication board, or a combination of methods. The use of non-verbal communication methods does not inhibit the development of spoken language and should not be discouraged. Older non-verbal individuals may benefit from an assistive communication device. A speech and language pathologist can assist in teaching nonverbal communication modalities and perform evaluations for assistive communication devices. [Ganz: 2012]

With knowledge of the communications methods used by the child and the communication-related therapies being employed, the primary care clinician can help the family evaluate their effectiveness, guide decisions regarding available choices, and advocate for eligibility or insurance coverage of important services.

Subspecialist Collaborations & Other Resources

Speech/Language Therapy (see Services below for relevant providers)

Can define language disorders associated with ASD and recommend/conduct ongoing speech therapy.

Complementary & Alternative Medicine

In the United States, many children on the autism spectrum are treated with complementary and alternative medicine (CAM). It is reported that 50-70% of children and adolescents with ASD have been treated with some form of CAM. [Akins: 2010] Because the use of these treatments is so prevalent, the primary care clinician should be aware of popular treatments, as well as their potential benefits and risks. While most of these treatments have not been rigorously tested for safety and efficacy, there is growing interest in these treatments, with more studies looking into the possible benefits of CAM treatments. With the exception of chelation (which has been associated with fatality), clinicians must remain open to discussing CAM therapies and provide information so that families can make informed decisions regarding their use. Association for Science in Autism Treatment provides a comprehensive list of Comprehensive list of CAM treatments used in autism , with references to evidence that may help guide treatment decisions. For further information regarding CAM treatments and guidelines for recommending or discouraging their use, please see CAM Treatments for Use in Children and Adolescents with Autism. [Anagnostou: 2011]

Nutrition/Growth/Bone

Some individuals on the autism spectrum show extreme food selectivity and/or oral texture issues. A dietary history can help identify those individuals who are at risk for nutritional deficiency and guide dietary intervention and supplementation, if needed.
The gluten-free, casein-free (GFCF) diet is a popular alternative treatment. It has been suggested that the proteins gluten and casein cause or exacerbate features of autism, after they are absorbed across a damaged or "leaky" gut, by acting upon the central nervous system as opiate-like neuropeptides. While anecdotal reports have indicated some success with the implementation of the GFCF diet, several small studies have not shown significant improvements in language or behavior. Families who desire to try the GFCF diet should be counseled regarding the need for calcium and vitamin D supplementation. Recent evidence suggests diminished bone cortical thickness in boys on the autism spectrum, particularly those on the GFCF diet. [Hediger: 2008] In addition, protein intake should be monitored, as many young children obtain a great deal of their protein from dairy products.

Subspecialist Collaborations & Other Resources

Nutrition/Dietary (see Services below for relevant providers)

Consider referral if dietary limitations are impacting growth, or if families are struggling to meet a child's nutrient requirement due to an exclusionary diet.

Occupational Therapy (see Services below for relevant providers)

Local conditions often determine which discipline has the most expertise and experience; a feeding specialist may provide assistance in reducing oral texture aversion in children whose oral sensitivity adversely effects feeding and growth.

Speech/Language Therapy (see Services below for relevant providers)

Local conditions often determine which discipline has the most expertise and experience; a feeding specialist may provide assistance in reducing oral texture aversion in children whose oral sensitivity adversely effects feeding and growth.

Neurology

Seizures occur in about 30% of children with autism. If seizures are suspected, information such as provoking circumstances, time of day, length and description of event, etc., should be collected. Children with an ASD should not be treated solely on the basis on an abnormal EEG, but only if clinical seizures are likely. Please see the Seizures/Epilepsy for more information regarding treatment of seizures.

Subspecialist Collaborations & Other Resources

Pediatric Neurology (see Services below for relevant providers)

Children with an ASD and suspected seizures should be evaluated, at least initially, by a pediatric neurologist. Seizures can be difficult to diagnose in this population, and it is important not to start a child with an ASD on unnecessary antiepileptic medication. Also, medications used in typically developing children such as levetiracetam, a medication for generalized seizures, may worsen behavior and may not be optimum in children with ASDs.

Gastro-Intestinal & Bowel Function

Children with an ASD may have many gastrointestinal problems, with the most common being constipation and diarrhea. Unless there is also weight loss, gastrointestinal bleeding, prolonged or persistent vomiting or diarrhea, or other symptoms that would suggest an organic cause, common problems, such as constipation, gastroesophageal reflux, etc. can be treated empirically, at least initially, with referral to gastroenterology if symptoms persist or worsen.
Constipation may be increased in children with an ASD due to food selectivity, decreased hydration, anxiety about toilet use, and sensory processing of the sensation of stool passage. If constipation is present, disimpaction may be necessary before regular treatment for constipation can begin. The goal of treatment for constipation is 1-2 soft, painless, stools daily. See Constipation Information (general) for more information.
Primary care providers may be asked about the implementation of the gluten-free, casein-free diet in children with an ASD and without celiac disease. Although there is no evidence that the gluten-free diet improves core symptoms in children with ASDs [Millward: 2008], parents may wish to try it, and as long as it is implemented properly, should not be harmful. The family should be referred to a dietician who is able to help the family start and maintain the diet while ensuring that all nutrients are being provided. Families who wish to try the gluten-free, casein-free diet should be guided to working towards specific goals or outcomes and stopping the diet if no change is observed.

Subspecialist Collaborations & Other Resources

Nutrition/Dietary (see Services below for relevant providers)

A dietary referral may be helpful in children with extreme food selectivity and for those who will be on a gluten free or other diet.

Pediatric Gastroenterology (see Services below for relevant providers)

Although children with ASDs without warning signs of serious illness may be treated empirically, a GI consult may be helpful if symptoms persist despite treatment.

Frequently Asked Questions

Should a child have a formal diagnosis of autism before he or she is referred for early intervention?

No. Cognitive, social, language, and adaptive outcomes are better for individuals with ASD when intervention is initiated early. This is likely true for other neurodevelopmental conditions that might raise concerns for parents or clinicians or result in a positive screening test. In some areas, limited access to developmental specialists may result in a delay of several months between referral and formal diagnosis. When a child is referred for a diagnostic evaluation, simultaneous referrals should be made to early intervention and speech and occupational therapy, as deemed appropriate, to address the particular challenges of the child.

What are the roles of risperidone and aripiprazole in the treatment of autism?

No medication is known to treat the core symptoms of autism. Risperidone and aripiprazole have been approved by the US Food and Drug Administration to treat the symptoms of aggression and irritability in children with autism over 5 years of age. Before using it for this purpose, however, clinicians must consider the underlying etiology of the problem behavior. This may include pain, poor communication skills, mood disorder, and anxiety disorders. Once determined, the cause of the behavior may be treated appropriately. Only when this is unsuccessful is it appropriate to target the symptom rather than the cause. See the Autism Spectrum Disorders, Treatment & Management Treatment and Management section, above.

Issues Related to Autism Spectrum Disorders

Family

Respite Care

Gastro-Intestinal & Bowel Function

Constipation Information

Learning/Education/Schools

Inclusion Models

Mental Health/Behavior

Toilet Training

Resources

Information for Clinicians

ASSERT
The Autism Support Services: Education, Research, and Training (ASSERT) program at Utah State University provides research-based support to individuals with autism spectrum disorders (ASD) and their families, and teachers and other professionals who work with individuals with ASD.

Association for Science in Autism Treatment
ASAT is a non-profit organization that provides information, lists of conferences, suggested readings, and articles about evidence-based autism treatments for clinicians and parents.

Autism (OMIM)
From Online Mendelian Inheritance in Man, supported by the National Center for Biotechnology Information; provides extensive, detailed background on genetic studies related to autism.

Autism Overview (GeneReviews)
From genetests.org, extensive clinical review with focus on heritable causes and candidate genes.

Autism Spectrum Disorders Knowledge Path
This site from the Maternal & Child Health Library at Georgetown provides many links to other sites that address autism including links for professionals and families.

DSM-IV criteria for autism
Diagnostic Criteria for 299.00 Autistic Disorder

Developmental Behavioral Pediatrics Online (dbpeds.org)
Copious developmental and behavioral information and tools for the pediatrician and other health professionals.

Interdisciplinary Technical Assistance Center on Autism and Developmental Disabilities
From the Association of University Centers on Disabilities (AUCD), this site provides information, funding opportunities, training events, and other resources to help improve care for children with autism spectrum disorders and other developmental disabilities.

National Autism Center
The NAC provides information for professionals and families about the treatment of autism including the National Standards Project which addresses evidence-based practice standards.

Genetics in Primary Care Institute (GPCI)
Increases collaboration in the care of children with known or suspected genetic disorders. Includes health supervision and management guidelines, and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal & Child Health Bureau, and the American Academy of Pediatrics.

Helpful Articles

PubMed search for review articles on Autism in children for last 3 years.

Chan JM, O'Reilly MF.
A Social Stories intervention package for students with autism in inclusive classroom settings.
J Appl Behav Anal. 2008;41(3):405-9. PubMed abstract / Full Text

Jan JE, Owens JA, Weiss MD, Johnson KP, Wasdell MB, Freeman RD, Ipsiroglu OS.
Sleep hygiene for children with neurodevelopmental disabilities.
Pediatrics. 2008;122(6):1343-50. PubMed abstract

Johnson CP.
Recognition of autism before age 2 years.
Pediatr Rev. 2008;29(3):86-96. PubMed abstract

Kleinman JM, Robins DL, Ventola PE, Pandey J, Boorstein HC, Esser EL, Wilson LB, Rosenthal MA, Sutera S, Verbalis AD, Barton M, Hodgson S, Green J, Dumont-Mathieu T, Volkmar F, Chawarska K, Klin A, Fein D.
The modified checklist for autism in toddlers: a follow-up study investigating the early detection of autism spectrum disorders.
J Autism Dev Disord. 2008;38(5):827-39. PubMed abstract

Robins DL.
Screening for autism spectrum disorders in primary care settings.
Autism. 2008;12(5):537-56. PubMed abstract

Soares NS, Patel DR.
Office screening and early identification of children with autism.
Pediatr Clin North Am. 2012;59(1):89-102, x-xi. PubMed abstract / Full Text
This article focuses on autism/autistic disorder screening and its early identification, with a brief mention for Asperger Syndrome (AS) screening, as there are limited tools and no recommendation for universal screening for AS.

Vismara LA, Rogers SJ.
Behavioral Treatments in Autism Spectrum Disorder: What Do We Know?.
Annu Rev Clin Psychol. 2010;6:447-68. / Full Text
This article provides a selective review of applied behavior analysis (ABA) intervention approaches, some of which are designed as comprehensive programs, and others which are directed toward a more specific set of goals. Both types of approaches have been shown to be effective in improving communication, social skills, and management of problem behavior for children with autism spectrum disorder (ASD).

Clinical Tools

Assessment Tools/Scales

Abnormal Involuntary Movement Scale (AIMS)(PDF Document 17 KB)
This scale may be used to monitor for extrapyramidal side effects in the individual treated with antipsychotic medications. It is intended for use with the Abnormal Involuntary Movement Scale-Instructions file.

Abnormal Involuntary Movement Scale (AIMS) Instructions(PDF Document 264 KB)
Instructions for use with the Abnormal Involuntary Movement Scale (AIMS).

M-CHAT (Modified Checklist for Autism in Toddlers)(PDF Document 117 KB)
The M-CHAT is copyrighted, and its use must follow these guidelines: (1) Reprints/reproductions of the M-CHAT must include the copyright (© 1999 Robins, Fein, & Barton). No modifications can be made to items or instructions without permission. (2) It must be used in its entirety. (3) Parties interested in reproducing the M-CHAT in print (e.g., a book or journal article) or electronically (e.g., as part of digital medical records or software packages) must contact Diana Robins to request permission (drobins@gsu.edu). More information is available at http://www2.gsu.edu/~psydlr/Diana_L._Robins,_Ph.D..html.

M-CHAT Follow-up Interview and Algorithm(PDF Document 310 KB)
Incorporating this interview in the screening process will reduce false positives (children who fail the MCHAT but do not have an ASD), thus limiting unnecessary referrals. For more information, see http://www2.gsu.edu/~psydlr/Diana_L._Robins,_Ph.D..html or, in Helpful Articles/Bibliography, Robins (2008) and Kleinman (2008).

M-CHAT Scoring Instructions(PDF Document 74 KB)
A child fails the checklist when 2 or more critical items are failed OR when any three items are failed. Yes/no answers convert to pass/fail responses.

M-CHAT Scoring Overlay(PDF Document 52 KB)
This overlay may be printed on a transparency and placed over the completed MCHAT form to assist in scoring.

Patient Education & Instructions

The links below provide family-oriented information and general resources for families affected by autism spectrum disorders.

Autism Fact Sheet (NINDS)
From the National Institute of Neurologic Disorders and Stroke.

Translated Autism Resources
Autism Fact Sheet and Learn the Signs: Act Early Autism Fact Sheet, each translated into eight languages by Vermont Department of Health.

Autism Fact Sheet, Spanish (NINDS)
From the National Institue of Neurologic Disorders and Stroke.

Autism Speaks 100 Day Kit (81 pgs)
Downloadable family-oriented guide from Autism Speaks. Offers an overview of ASDs and aims to help parents organize and prioritize in their approach to seeking services for their child. Practical information is provided emphasizing advocacy and family support. Several forms are available to assist in the organization of medical records and tracking the effectiveness of treatments.

Autism Speaks 100 Day Kit, Spanish (84 pgs)
Family-oriented guide, in Spanish, from Autism Speaks, downloadable from the linked site. Offers an overview of ASDs and aims to help parents organize and prioritize in their approach to seeking services for their child. Practical information is provided emphasizing advocacy and family support. Several forms are available to assist in the organization of medical records and tracking the effectiveness of treatments.

Autism Spectrum Disorders booklet (NIMH)
The link takes you to the National Institute of Mental Health website, from which the 27 page autism booklet may be downloaded at no cost.

Understanding Autism Spectrum Disorders pamphlet (AAP)
Family-oriented information pamphlet (44 pgs), available from the American Academy of Pediatrics bookstore for $35 for a package of 10 ($30 for members).

Autism Spectrum Disorders: What Every Parent Needs to Know
An invaluable resource for parents and caregivers of children who have been diagnosed with an autism spectrum disorder (ASD). Prepared under the editorial direction of 2 distinguished pediatricians who are autism experts, this book helps you understand how ASDs are defined and diagnosed and provides information on the most current types of behavioral and developmental therapies. Available for purchase.

Asperger Syndrome and Difficult Moments: Practical Solutions for Tantrums, Rage, and Meltdowns
This expanded edition of the bestselling AAPC classic offers both parents and professionals tried-and-true solutions to minimize and circumvent the often frightening circumstances that surround the rage cycle – not only for the child with Asperger Syndrome but others in the environment as well. Available for purchase.

Toolkits

Autism Resource Package Toolkit (AAP)
Includes a comprehensive guide to the diagnosis and management of autism spectrum disorders on CD-ROM, as well as 10 "Understanding Autism Spectrum Disorders" pamphlets. The toolkit may be purchased for $115 ($100 for members) from the American Academy of Pediatrics bookstore on-line.

HANDS in Autism Toolkit
An extensive toolkit for clinicians to improve their care of children with ASD, from the HANDS in Autism program at the Christian Sarkine Autism Treatment Center at Riley Hospital at Indiana University Health and the IU School of Medicine; can be downloaded by section or in toto.

Information & Support for Families

Family Diagnosis Page

Information on the Web

The following websites have helpful information on ASD.

AspergerLife
A good site for basic information for parents and physicians about Asperger's Disorder, written by a clinical psychologist in Michigan.

Asperger syndrome (MedlinePlus)
From National Library of Medicine and National Institutes of Health, the site offers many links to high-quality sources of information for patients and their families. The Asperger's page is relatively short and manageable.

Association for Science in Autism Treatment
ASAT is a non-profit organization that provides information, lists of conferences, suggested readings, and articles about evidence-based autism treatments for clinicians and parents.

Autism (MedlinePlus)
From the National Library of Medicine & National Institutes of Health, offers a brief overview and numerous links to high-quality sources of information for patients and their families.

Autism Council of Utah
An independent council working to foster collaboration, communication, and learning among families and agencies in Utah. Site offers information, resources, and links aimed at families of children with autism. They offer grants of up to $5K to enable each person of any age who has autism or a related disorder, and their families, to have access to resources and responsible information.

Autism Information Center (CDC)
Parent-oriented information regarding autism spectrum disorders from the Centers for Disease Control, with focused information on early warning signs and vaccines and autism

Autism Spectrum Disorders (healthychildren.org)
From the American Academy of Pediatrics, information about autism spectrum disorders (ASDs).

Autism Society of America
The ASA promotes autism awareness and is dedicated to providing information regarding research, treatment, advocacy, and family support throughout the lifespan.

Autism Speaks
A national organization dedicated to promoting autism-related research. The web site provides information regarding fundraising for specific research projects as well as general parent information regarding autism spectrum disorders.

Autism Speaks - Technology and Autism
Communication applications for those with Autism Spectrum Disorders. For individuals with autism, some new technologies can improve communication, assist in the development of social skills, and enhance the ability to learn.

Autism Watch
Part of QuackWatch, an online "Guide to Quackery, Health Fraud, and Intelligent Decisions." Provides reliable information and links about proposed causes of autism and treatments, and lists of reliable and not reliable web sites for more information.

Considerations when Looking for Services for Individuals with Autism Spectrum Disorder (ASD)
Thoughtful suggestions for selecting services for people with Autism Spectrum Disorders (ASDs). This was developed by a collaborative group through the Utah Autism Initiative. The suggestions are also helpful when looking for services for other conditions.

Different Roads to Learning
On-line catalogs specializing in learning materials and playthings for children with developmental disabilities, including autism. Focus on ABA resources.

Future Horizons
Commercial site offering information, training, and resources for families, teachers, and professionals for dealing with autism.

Kidstar Sumer Camp for Children with Autism
Day camp for children 8-16 to learn social skills and build self-esteem, from the University Neuropsychiatric Institute (UNI). Campers are paired with buddies who model appropriate behaviors.

Online Asperger Syndrome Information and Support (OASIS)
Known as the OASIS (Online Asperger Syndrome Information and Support) and MAAP site, includes up-to-date information relevant to all higher-functioning PDDs, including Asperger Disorder, high-functioning autism, and PDDNOS.

Special Education - Utah
Official site of Utah State Office of Education's Special Education program.

Utah Medicaid Autism Waiver Program
The Utah Medicaid Autism Waiver is a program to assist children ages 2-5 who have been diagnosed with an autism spectrum disorder (ASD). The waiver provides in-home services using treatment methods that have been proven to be effective. Approx. 200 children will be covered throughout the program which ends in June 2014. Please join our listserv to receive open enrollment and other important information.

Utah Parent Center Resources and Materials
The Utah Parent Center website provides information about school services and processes in English and Spanish, as well as many other resources.

Utah Autism System Development
The Utah Bureau of CSHCN is bringing together agencies and advocates who influence the statewide system of services for children with autism spectrum disorder (ASD) and their families.

Yale Child Study Center Autism Research Projects
The Yale Child Study Center is recruiting patients for multiple autism-related studies.

Support National & Local

Autism Parent Focus Group(PDF Document 22 KB)
Read what parents of children with autism have to say about getting a diagnosis, the impact on siblings, where parents get information, and the financial impact on families. The transcript is from a focus group in July 2009.

Family to Family Network Support, Utah
Networking site for families of children with special health care needs in Utah.

Technical Assistance Alliance for Parent Centers
This site includes links to local Parent Centers which serve as resources for education and training for parents of children with disabilities, as well as listing local conferences, support groups, autism information, advocacy tips, and suggestions for finding school and other local services. Funded by OSEP.

Utah Parent Center
This statewide nonprofit organization, founded in 1984, provides training, information, referral and assistance to parents of children and youth with all disabilities, including physical, mental, hearing, vision, learning, behavioral, and emotional. Staff consists primarily of parents of children and youth with disabilities.

Studies/Registries

Studies Related to Autism (clinicaltrials.gov)
A current list of clinical trials (active, recruiting, and recently completed) of autism and related conditions.

Services for Patients & Families

Audiology

See all Audiology services providers (64) in our database.

Autism Clinics

See all Autism Clinics services providers (2) in our database.

Autism Treatment/Behavioral Specialists

Neurobehavior H.O.M.E. Program, more info...
650 S. Komas Drive, Suite 200
Salt Lake City, UT 84108
Map
Phone: 801-581-5515
http://healthcare.utah.edu/uni/home/

See all Autism Treatment/Behavioral Specialists services providers (48) in our database.

Behavioral Pediatrics

See all Behavioral Pediatrics services providers (6) in our database.

Child Psychiatry

Neurobehavior H.O.M.E. Program, more info...
650 S. Komas Drive, Suite 200
Salt Lake City, UT 84108
Map
Phone: 801-581-5515
http://healthcare.utah.edu/uni/home/

See all Child Psychiatry services providers (15) in our database.

Child Psychology

See all Child Psychology services providers (59) in our database.

Developmental Pediatrics

Child Development Clinic, CSHCN, more info...
44 N Mario Capecchi Drive
Salt Lake City, UT 84114
Phone: 801-584-8510
Toll Free Phone: 800-829-8200
Fax: 801-584-8579
http://health.utah.gov/cshcn/cdc/

See all Developmental Pediatrics services providers (5) in our database.

Nutrition/Dietary

See all Nutrition/Dietary services providers (56) in our database.

Occupational Therapy

See all Occupational Therapy services providers (34) in our database.

Pediatric Dentistry

See all Pediatric Dentistry services providers (46) in our database.

Pediatric Gastroenterology

See all Pediatric Gastroenterology services providers (2) in our database.

Pediatric Genetics

See all Pediatric Genetics services providers (3) in our database.

Pediatric Neurology

See all Pediatric Neurology services providers (4) in our database.

Pediatric Sleep Medicine

See all Pediatric Sleep Medicine services providers (3) in our database.

Schools for Children with Autism

Spectrum Academy, more info...
575 North Cutler Drive
North Salt Lake, UT 84054
Phone: 801-936-0318
Fax: 801-936-0568
http://www.spectrumcharter.org

Northern Utah Autism Program, more info...
100 Orchard Ave.
Ogden, UT 84404
Phone: 801-392-6053
Fax: 801-394-5936
http://www.weberhs.org/home/Foundation.htm

See all Schools for Children with Autism services providers (10) in our database.

Social Skills Classes

See all Social Skills Classes services providers (9) in our database.

Speech/Language Therapy

See all Speech/Language Therapy services providers (48) in our database.

For other services related to this condition, browse our Services categories or search our database.

Authors

Author: Tara Buck, MD - 2/2013
Contributing Authors: G. Bradley Schaefer, MD - 11/2013
Paul Carbone, MD - 6/2013
Reviewing Author: Deborah Bilder, MD - 1/2013
Content Last Updated: 2/2014

Bibliography

Akins RS, Angkustsiri K, Hansen RL.
Complementary and alternative medicine in autism: an evidence-based approach to negotiating safe and efficacious interventions with families.
Neurotherapeutics. 2010;7(3):307-19. PubMed abstract / Full Text
This review focuses on helping clinicians identify resources and develop strategies they may use to effectively negotiate safe and effective use of complementary and alternative medicine (CAM) treatments with families of children with autism spectrum disorders (ASD), as well as other neurodevelopmental disorders.

Anagnostou E, Hansen R.
Medical treatment overview: traditional and novel psycho-pharmacological and complementary and alternative medications.
Curr Opin Pediatr. . 2011;23(6):621-7. PubMed abstract / Full Text
Accumulating data suggest a series of existing medications may be useful in ASD and large randomized clinical trials are necessary to evaluate safety and efficacy of both pharmaceuticals and alternative treatments.

Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal Investigators .
Prevalence of autism spectrum disorders--Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008.
MMWR Surveill Summ. 2012;61(3):1-19. PubMed abstract / Full Text
Autism spectrum disorders (ASDs) are a group of developmental disabilities characterized by impairments in social interaction and communication and by restricted, repetitive, and stereotyped patterns of behavior. The complex nature of these disorders creates challenges in monitoring the prevalence of ASDs. Accurate reporting of data is essential to understand the prevalence of ASDs in the population and can help direct research.

Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E and Rutter M .
Autism as a strongly genetic disorder: evidence from a British twin study.
Psychological Medicine. 1995;(25):63-77. / Full Text
Two previous epidemiological studies of autistic twins suggested that autism was predominantly genetically determined, although the findings with regard to a broader phenotype of cognitive, and possibly social, abnormalities were contradictory. This study's findings indicate that autism is under a high degree of genetic control and suggest the involvement of multiple genetic loci.

Barbaro J, Dissanayake C.
Autism spectrum disorders in infancy and toddlerhood: a review of the evidence on early signs, early identification tools, and early diagnosis.
J Dev Behav Pediatr. 2009;30(5):447-59. PubMed abstract
It is recommended that future prospective Autism Spectrum Disorders (ASD) studies monitor behavior repeatedly over time, thereby increasing the opportunity to identify early manifestations of ASD and facilitating the charting of subtle behavioral changes that occur in the development of infants and toddlers with ASD.

Bohlander AJ, Orlich F, Varley CK.
Social skills training for children with autism.
Pediatr Clin North Am. 2012;59(1):165-74, xii. PubMed abstract
This article summarizes the current literature on social skills training for children and adolescents with autism spectrum disorders. The article describes several different methods of social skills training, along with a summary of research findings on effectiveness.

Buie T, Campbell DB, Fuchs GJ 3rd, Furuta GT, Levy J, Vandewater J, Whitaker AH, Atkins D, Bauman ML, Beaudet AL, Carr EG, Gershon MD, Hyman SL, Jirapinyo P, Jyonouchi H, Kooros K, Kushak R, Levitt P, Levy SE, Lewis JD, Murray KF, Natowicz MR, Sabra A, Wershil BK, Weston SC, Zeltzer L, Winter H.
Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report.
Pediatrics. 2010;125 Suppl 1:S1-18. PubMed abstract / Full Text
A multidisciplinary panel reviewed the medical literature with the aim of generating evidence-based recommendations for diagnostic evaluation and management of gastrointestinal problems in individuals with ASDs.

Chan JM, O'Reilly MF.
A Social Stories intervention package for students with autism in inclusive classroom settings.
J Appl Behav Anal. 2008;41(3):405-9. PubMed abstract / Full Text

Constantino JN, Zhang Y, Frazier T, Abbacchi AM, Law P.
Sibling recurrence and the genetic epidemiology of autism.
Am J Psychiatry. 2010;167(11):1349-56. PubMed abstract / Full Text

Dawson, Geraldine.
Early behavioral intervention, brain plasticity, and the prevention of autism spectrum disorder.
Development and Psychopathology. 2008;20(3):775-803. / Full Text
Advances in several related fields have contributed to a more optimistic outcome for individuals with autism spectrum disorder (ASD). For the first time, prevention of ASD is plausible. This article describes a developmental model of risk, risk processes, symptom emergence, and adaptation in ASD that offers a framework for understanding early brain plasticity in ASD and its role in prevention of the disorder.

Dosman CF, Brian JA, Drmic IE, Senthilselvan A, Harford MM, Smith RW, Sharieff W, Zlotkin SH, Moldofsky H, Roberts SW.
Children with autism: effect of iron supplementation on sleep and ferritin.
Pediatr Neurol. 2007;36(3):152-8. PubMed abstract

Duchan E, Patel ER.
Epidemiology of Autism Spectrum Disorders.
The Pediatric Clinics of North America. 2012;59(1):27-43.
Epidemiologic data gathered over the last 40 years report that the conservative estimate of autistic spectrum disorder prevalence is 27.5 per 10,000 individuals; however, the prevalence estimate based on newer surveys is 60 per 10,000 individuals. This article reviews the incidence, prevalence, and risk factors for autism.

Elsabbagh M, Divan G, Koh YJ, Kim YS, Kauchali S, Marcín C, Montiel-Nava C, Patel V, Paula CS, Wang C, Yasamy MT, Fombonne E.
Global prevalence of autism and other pervasive developmental disorders.
Autism Res. 2012;5(3):160-79. PubMed abstract / Full Text
A systematic review of epidemiological surveys of autistic disorder and pervasive developmental disorders (PDDs) worldwide. Based on the evidence reviewed, the median of prevalence estimates of autism spectrum disorders was 62/10 000.

Farley MA, McMahon WM, Fombonne E, Jenson WR, Miller J, Gardner M, Block H, Pingree CB, Ritvo ER, Ritvo RA, Coon H.
Twenty-year outcome for individuals with autism and average or near-average cognitive abilities.
Autism Res. 2009;2(2):109-18. PubMed abstract / Full Text
Previous studies found substantial variability in adult outcome for people with autism whose cognitive functioning was within the near-average and average ranges This study examined adult outcome for 41 such individuals. Cognitive gain was associated with better outcome, as was better adaptive functioning. While all participants had baseline IQs in the nonimpaired range, there was limited evidence to support the use of other early childhood variables to predict adult outcome.

Filipek PA, Accardo PJ, Ashwal S, Baranek GT, Cook EH Jr, Dawson G, Gordon B, Gravel JS, Johnson CP, Kallen RJ, Levy SE, Minshew NJ, Ozonoff S, Prizant BM, Rapin I, Rogers SJ, Stone WL, Teplin SW, Tuchman RF, Volkmar FR.
Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society.
Neurology. 2000;55(4):468-79. PubMed abstract / Full Text

Ganz JB, Davis JL, Lund EM, Goodwyn FD, Simpson RL.
Meta-analysis of PECS with individuals with ASD: investigation of targeted versus non-targeted outcomes, participant characteristics, and implementation phase.
Res Dev Disabil. 2012;33(2):406-18. PubMed abstract
This meta-analysis analyzes the extant empirical literature for Picture Exchange Communication System (PECS) relative to targeted (functional communication) and non-targeted concomitant outcomes (behavior, social skills, and speech) for learners with autism, learners with autism and intellectual disabilities and those with autism and multiple disabilities. Results supported the judgment that PECS is a promising intervention method.

Gura GF, Champagne MT, Blood-Siegfried, JE.
Autism Spectrum Disorder Screening in Primary Care.
Journal of Developmental & Behavioral Pediatrics. 2011;32(1):48-51.
This quality improvement study examined whether a private primary care practice could overcome screening barriers and implement the recommended universal ASD screening practice using the Modified Checklist for Autism in Toddlers™. The findings suggest that low-cost universal screening can be implemented in primary care when addressed from an organizational perspective.

Hallmayer J, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T, Miller J, Fedele A, Collins J, Smith K, Lotspeich L, Croen LA, Ozonoff S, Lajonchere C, Grether JK, Risch N.
Genetic heritability and shared environmental factors among twin pairs with autism.
Arch Gen Psychiatry. 2011;68(11):1095-102. PubMed abstract / Full Text
This study's objective was to provide rigorous quantitative estimates of genetic heritability of autism and the effects of shared environment. It's conclusion is that susceptibility to ASD has moderate genetic heritability and a substantial shared twin environmental component.

Handen BL, Sahl R, Hardan AY.
Guanfacine in children with autism and/or intellectual disabilities.
J Dev Behav Pediatr. 2008;29(4):303-8. PubMed abstract

Hediger ML, England LJ, Molloy CA, Yu KF, Manning-Courtney P, Mills JL.
Reduced bone cortical thickness in boys with autism or autism spectrum disorder.
J Autism Dev Disord. 2008;38(5):848-56. PubMed abstract

Huerta, M and Lord, C.
Diagnostic Evaluation of Autism Spectrum Disorders.
Pediatr Clin North Am. 2012;59(1):103-111. PubMed abstract
Research on the identification and evaluation of autism spectrum disorders (ASD) is reviewed and best practices for clinical work are discussed. The latest research on diagnostic tools, and their recommended use, is also reviewed. Recommendations include the use of instruments to assess functioning and behavior, the inclusion of parents and caregivers as active partners, and the consideration of developmental factors throughout the diagnostic process.

Jan JE, Owens JA, Weiss MD, Johnson KP, Wasdell MB, Freeman RD, Ipsiroglu OS.
Sleep hygiene for children with neurodevelopmental disabilities.
Pediatrics. 2008;122(6):1343-50. PubMed abstract

Jeste SS.
The neurology of autism spectrum disorders.
Curr Opin Neurol. 2011;24(2):132-9. PubMed abstract / Full Text
Neurological comorbidities in autism spectrum disorders (ASD) are not only common, but they are also associated with more clinical severity. This review highlights the most recent literature on three of autism’s most prevalent neurological comorbidities: motor impairment, sleep disorders, and epilepsy.

Johnson CP.
Recognition of autism before age 2 years.
Pediatr Rev. 2008;29(3):86-96. PubMed abstract

Johnson CP, Myers SM.
Identification and evaluation of children with autism spectrum disorders.
Pediatrics. 2007;120(5):1183-215. PubMed abstract
Comprehensive clinical report addressing the definition, history, epidemiology, diagnostic criteria, early signs, neuropathologic aspects, and etiologic possibilities in autism spectrum disorders. This report also provides the primary care provider with an algorithm for assistance in the early identification of children with autism spectrum disorders.

Johnson KP, Malow BA.
Sleep in children with autism spectrum disorders.
Curr Treat Options Neurol. 2008;10(5):350-9. PubMed abstract

Kaplan G, McCracken JT.
Psychopharmacology of autism spectrum disorders.
Pediatr Clin North Am. 2012;59(1):175-87, xii. PubMed abstract
This article offers information on the psychopharmacology of ASD that is current, relevant, and organized in a user-friendly manner, to form a concise but informative reference guide for primary pediatric clinicians.

Karkhaneh M, Clark B, Ospina MB, Seida JC, Smith V, Hartling L.
Social Stories ™ to improve social skills in children with autism spectrum disorder: a systematic review.
Autism. 2010;14(6):641-62. PubMed abstract
Since the early 1990s, Social Stories™ have been suggested to positively affect the social development of children with autism spectrum disorder (ASD). This review underscores the need for further rigorous research and highlights some outstanding questions regarding maintenance and generalization of the benefits of Social Stories ™.

Kleinman JM, Robins DL, Ventola PE, Pandey J, Boorstein HC, Esser EL, Wilson LB, Rosenthal MA, Sutera S, Verbalis AD, Barton M, Hodgson S, Green J, Dumont-Mathieu T, Volkmar F, Chawarska K, Klin A, Fein D.
The modified checklist for autism in toddlers: a follow-up study investigating the early detection of autism spectrum disorders.
J Autism Dev Disord. 2008;38(5):827-39. PubMed abstract

Kolevzon A, Mathewson KA, Hollander E.
Selective serotonin reuptake inhibitors in autism: a review of efficacy and tolerability.
J Clin Psychiatry. 2006;67(3):407-14. PubMed abstract

LeBlanc LA, Gillis JM.
Behavioral interventions for children with autism spectrum disorders.
Pediatr Clin North Am. 2012;59(1):147-64, xi-xii. PubMed abstract
This article describes the core features of behavioral treatments, summarizes the evidence base for effectiveness, and provides recommendations to facilitate family understanding of these interventions and identification of qualified providers. Recommendations are also provided for collaboration between pediatric providers and behavior analysts who are serving families of individuals with ASDs.

Lord C, Risi S, DiLavore PS, Shulman C, Thurm A, Pickles A.
Autism from 2 to 9 years of age.
Arch Gen Psychiatry. 2006;63(6):694-701. PubMed abstract / Full Text
The objective of this study is to examine the stability of autism spectrum diagnoses made at ages 2 through 9 years and identify features that predicted later diagnosis. Diagnostic stability at age 9 years was very high for autism at age 2 years and less strong for pervasive developmental disorder not otherwise specified. Judgment of experienced clinicians, trained on standard instruments, consistently added to information available from parent interview and standardized observation.

Martínez-Pedraza Fde L, Carter AS.
Autism spectrum disorders in young children.
Child Adolesc Psychiatr Clin N Am. 2009;18(3):645-63. PubMed abstract / Full Text
The focus of this review is on the early identification, assessment, and treatment of young children (0–5 years of age) with autism spectrum disorders (ASDs).

McPheeters ML, Warren Z, Sathe N, Bruzek JL, Krishnaswami S, Jerome RN, Veenstra-Vanderweele J.
A systematic review of medical treatments for children with autism spectrum disorders.
Pediatrics. 2011;127(5):e1312-21. PubMed abstract / Full Text
Although many children with ASDs are currently treated with medical interventions, strikingly little evidence exists to support benefit for most treatments. Risperidone and aripiprazole have shown benefit for challenging and repetitive behaviors, but associated adverse effects limit their use to patients with severe impairment or risk of injury.

Mefford HC, Batshaw ML, Hoffman EP.
Genomics, intellectual disability, and autism.
N Engl J Med. 2012;366(8):733-43. PubMed abstract / Full Text
This article reviews advances in genetic research that have enabled genomewide discovery of chromosomal copy-number changes and single-nucleotide changes in patients with intellectual disability and autism.

Miles JH.
Autism spectrum disorders--a genetics review.
Genet Med. 2011;13(4):278-94. PubMed abstract / Full Text
On the basis of the high-heritability index, geneticists are confident that autism will be the first behavioral disorder for which the genetic basis can be well established. The current emphasis on deciphering autism spectrum disorders has demonstrated the necessity of multidisciplinary research that must include clinical geneticists.

Miller JS, Gabrielsen T, Villalobos M, Alleman R, Wahmhoff N, Carbone PS, Segura B.
The each child study: systematic screening for autism spectrum disorders in a pediatric setting.
Pediatrics. 2011;127(5):866-71. PubMed abstract
A partnership between pediatricians and autism specialists resulted in effective, systematic autism screening. Future studies should examine how to create effective systems of care.

Millward C, Ferriter M, Calver S, Connell-Jones G.
Gluten- and casein-free diets for autistic spectrum disorder.
Cochrane Database Syst Rev. 2008;(2):CD003498. PubMed abstract

Ming X, Gordon E, Kang N, Wagner GC.
Use of clonidine in children with autism spectrum disorders.
Brain Dev. 2008;30(7):454-60. PubMed abstract

Myers SM, Johnson CP.
Management of children with autism spectrum disorders.
Pediatrics. 2007;120(5):1162-82. PubMed abstract / Full Text
This clinical report is intended to guide clinicians toward empirically based treatments and educational strategies for children with autistic spectrum disorders.

Owen R, Sikich L, Marcus RN, Corey-Lisle P, Manos G, McQuade RD, Carson WH, Findling RL.
Aripiprazole in the treatment of irritability in children and adolescents with autistic disorder.
Pediatrics. 2009;124(6):1533-40. PubMed abstract

Ozonoff S, Young GS, Carter A, Messinger D, Yirmiya N, Zwaigenbaum L, Bryson S, Carver LJ, Constantino JN, Dobkins K, Hutman T, Iverson JM, Landa R, Rogers SJ, Sigman M, Stone WL.
Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study.
Pediatrics. 2011;128(3):e488-95. PubMed abstract / Full Text
This study used prospective methods to obtain an updated estimate of sibling recurrence risk for ASD. Its results show the sibling recurrence rate of ASD is higher than suggested by previous estimates. Clinical implications, including genetic counseling, are discussed.

Panerai S, Zingale M, Trubia G, Finocchiaro M, Zuccarello R, Ferri R, Elia M.
Special education versus inclusive education: the role of the TEACCH program.
J Autism Dev Disord. 2009;39(6):874-82. PubMed abstract / Full Text
This study compared the effectiveness of three different educational approaches addressed to children with autism and severe mental retardation. Effectiveness of TEACCH appeared to be confirmed, showing positive outcomes in the natural setting, and revealing its inclusive value.

Reynolds AM, Malow BA.
Sleep and autism spectrum disorders.
Pediatr Clin North Am. 2011;58(3):685-98. PubMed abstract
Sleep disorders are common in children with autism spectrum disorders. Identifying and treating sleep disorders may result not only in more consolidated sleep, more rapid time to fall asleep, and avoidance of night waking but also favorably affect daytime behavior and parental stress.

Ritvo ER, Jorde LB, Mason-Brothers A, Freeman BJ, Pingree C, Jones MB, McMahon WM, Petersen PB, Jenson WR, Mo A.
The UCLA-University of Utah epidemiologic survey of autism: recurrence risk estimates and genetic counseling.
Am J Psychiatry. 1989;146(8):1032-6. PubMed abstract

Robins DL.
Screening for autism spectrum disorders in primary care settings.
Autism. 2008;12(5):537-56. PubMed abstract

Rossignol DA, Frye RE.
Melatonin in autism spectrum disorders: a systematic review and meta-analysis.
Dev Med Child Neurol. 2011;53(9):783-92. PubMed abstract / Full Text
Melatonin administration in ASD is associated with improved sleep parameters, better daytime behavior, and minimal side effects.

Schaefer GB, Mendelsohn NJ.
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders.
Genet Med. 2008;10(4):301-5. PubMed abstract

Schaefer GB, Mendelsohn NJ.
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
Genet Med. 2013;15(5):399-407. PubMed abstract

Sharma A, Shaw SR.
Efficacy of risperidone in managing maladaptive behaviors for children with autistic spectrum disorder: a meta-analysis.
J Pediatr Health Care. 2012;26(4):291-9. PubMed abstract
Current evidence supports the effectiveness of risperidone in managing behavioral problems and symptoms for children with ASD. Overall, for most children with autism and irritable and aggressive behavior, risperidone is an effective psychopharmacological treatment.

Silva LM, Schalock M.
Autism Parenting Stress Index: initial psychometric evidence.
J Autism Dev Disord. 2012;42(4):566-74. PubMed abstract / Full Text
As a measure of parenting stress specific to core and co-morbid symptoms of autism, the Autism Parenting Stress Index (APSI) is unique. It is intended for use by clinicians to identify areas where parents need support with parenting skills, and to assess the effect of intervention on parenting stress.

Soares NS, Patel DR.
Office screening and early identification of children with autism.
Pediatr Clin North Am. 2012;59(1):89-102, x-xi. PubMed abstract / Full Text
This article focuses on autism/autistic disorder screening and its early identification, with a brief mention for Asperger Syndrome (AS) screening, as there are limited tools and no recommendation for universal screening for AS.

Strain PS, Bovey EH.
Randomized, Controlled Trial of the LEAP Model of Early Intervention for Young Children With Autism Spectrum Disorders.
Topics in Early Childhood Special Education. 2011;31(3):133-154. / Full Text
A clustered randomized design was used in which 28 preschool classrooms were randomly assigned to receive training in the LEAP (Learning Experiences and Alternative Program for Preschoolers and Their Parents) model, and 28 classes were assigned to receive intervention manuals only. After 2 years, experimental class children were found to have made significantly greater improvement than their comparison cohorts on measures of cognitive, language, social, and problem behavior, and autism symptoms.

Tuchman R, Alessandri M, Cuccaro M.
Autism spectrum disorders and epilepsy: moving towards a comprehensive approach to treatment.
Brain Dev. 2010;32(9):719-30. PubMed abstract / Full Text
There is no single treatment or treatment protocol for children with Autism Spectrum Disorder (ASD) or epilepsy. The best hope for good developmental outcomes in children with ASD and epilepsy is early recognition and comprehensive treatment of both the ASD and epilepsy.

Turner LM, Stone WL.
Variability in outcome for children with an ASD diagnosis at age 2.
J Child Psychol Psychiatry. 2007;48(8):793-802. PubMed abstract / Full Text
This study's objectives were to examine the behavioral and diagnostic outcomes of 2 year old children with ASD, and to identify factors that contribute to variability in outcomes at age 4. The stability of ASD was lower in the present study than has been reported previously, a finding largely attributable to children who were diagnosed at 30 months or younger.

Vismara LA, Rogers SJ.
Behavioral Treatments in Autism Spectrum Disorder: What Do We Know?.
Annu Rev Clin Psychol. 2010;6:447-68. / Full Text
This article provides a selective review of applied behavior analysis (ABA) intervention approaches, some of which are designed as comprehensive programs, and others which are directed toward a more specific set of goals. Both types of approaches have been shown to be effective in improving communication, social skills, and management of problem behavior for children with autism spectrum disorder (ASD).

Warren Z, McPheeters ML, Sathe N, Foss-Feig JH, Glasser A, Veenstra-Vanderweele J.
A systematic review of early intensive intervention for autism spectrum disorders.
Pediatrics. 2011;127(5):e1303-11. PubMed abstract / Full Text
Early intensive behavioral and developmental interventions for young children with autism spectrum disorders (ASDs) may enhance developmental outcomes.

Wetherby AM, Woods JJ.
Early Social Interaction Project for Children With Autism Spectrum Disorders Beginning in the Second Year of Life A Preliminary Study.
Topics in Early Childhood Special Education. 2006;26(2):67-82. / Full Text
This quasi-experimental study is a preliminary effort to evaluate the effects of the Early Social Interaction (ESI) project on the social communication outcomes for a group of 17 children with ASD who entered ESI at age 2 years. The findings offer promise for the use of parent-implemented interventions in promoting social communication for toddlers with ASD.

Zimmer M, Desch L.
Sensory integration therapies for children with developmental and behavioral disorders.
Pediatrics. 2012;129(6):1186-9. PubMed abstract / Full Text
Occupational therapy with the use of sensory-based therapies may be acceptable as one of the components of a comprehensive treatment plan for children with developmental and behavioral disorders. Pediatricians and other clinicians should discuss the limitations of these therapies with parents.

Zwaigenbaum L, Bryson S, Lord C, Rogers S, Carter A, Carver L, Chawarska K, Constantino J, Dawson G, Dobkins K, Fein D, Iverson J, Klin A, Landa R, Messinger D, Ozonoff S, Sigman M, Stone W, Tager-Flusberg H, Yirmiya N.
Clinical Assessment and Management of Toddlers With Suspected Autism Spectrum Disorder: Insights From Studies of High-Risk Infants.
Pediatrics. 2009;123(5):1383-1391. PubMed abstract / Full Text
This article addresses challenges related to and and current knowledge on early detection, diagnosis, and treatment of autism spectrum disorders under the age of 2.