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Down Syndrome - Ongoing Assessment

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Overview

In August 2011, the American Academy of Pediatrics’ Committee on Genetics published new guidelines for the health supervision of children with Down syndrome. The Portal team is currently updating this module to incorporate these. Until that is complete, please refer to [Bull: 2011] for the updated information.

Every child with Down Syndrome (DS) should have routine well-child visits and most will require additional scheduled visits for chronic care assessment and management. This section will focus on the ongoing care of a child with Down Syndrome who has already been identified and has undergone initial evaluations as outlined in "Initial Diagnosis" section of this module.

Screening

Guidelines for care have been developed by the AAP [American: 2001] and include recommended screening for thyroid disorders, hearing impairments, visual concerns, and evaluation for atlanto-axial instability. While celiac disease and obstructive sleep apnea are commonly associated with trisomy 21, no screening recommendations are offered. The clinician should keep these conditions in mind during ongoing assessment.

Diagnostic Criteria

All children with the diagnosis of Down Syndrome should have a karyotype completed to confirm diagnosis at initial presentation and to identify those with a translocation.

Pearls And Alerts

Sleep apnea occurs in up to 45% of individuals with DS. It may be obstructive, central, or mixed in etiology. A subset of individuals exhibit clinically significant sleep apnea without overt signs of upper airway obstruction. See Sleep under Co-Morbid Conditions below.

While 13-14% of patients with DS show evidence of atlanto-axial instability (AAI) on x-ray, only 1-2% have symptoms that require treatment. See below under CoMorbid Conditions for more detail.

History And Examination

Interim History

Each visit should begin with open-ended questions about patient/family concerns and issues. Review progress since last seen and intercurrent illness or evaluations. Specific symptoms and current treatment plan for underlying conditions (e.g., cardiac, thyroid, gastrointestinal) should be reviewed.

Developmental and Educational Progress

Understanding the child's functional abilities is key to assessment. Inquire about the child’s method and level of expressive communication and at what level the child understands language. Many children with DS have significantly higher receptive than expressive language abilities. Typical DS language milestones are: smiling 2 months (SD 1.5-4 months), verbalizing single words 16 months (SD 9-31 months), verbalizing early phrases 28 months (SD 19-96 months).

There is considerable variability in the age at which motor milestones are reached. Determine recent acquisition of gross and fine motor skills. Average ages for attainment of gross motor skills in DS include:
  • Rolling stomach to back 6 months
  • Rolling back to stomach 7 months
  • Sitting independently at 11 months
  • Belly crawl (>5 ft) 14 months
  • Pull to stand from hands and feet 17 months
  • Independent standing (>10 sec) 21 months
  • Walking (15-20 ft) 26 months
There is wide variation around these averages and the child with ongoing medical issues (e.g., repeated illness or surgeries) may exhibit further delays.
Review supports the child is receiving through early intervention, the school district, or private therapy providers, the child’s rate of progress, parents’ satisfaction with current services, and the family’s concerns regarding development or functional goals. Skills in activities of daily living, eating, and community integration should be discussed. If a child with DS is not making progress or his/her developmental pattern falls outside the expected, additional evaluation is indicated to identify comorbid conditions (e.g., verbal or motor apraxia, hearing impairment, autism, impairments in focus, neurologic conditions).

Behavior challenges are common. Inquire about sleep and feeding concerns, internalizing/externalizing behaviors, and social inclusion. Consider whether problem behaviors, their frequency, and intensity are consistent with the child's functional abilities. The 5 year old child whose receptive language skills are at the 3 year old level is likely to have temper tantrums, a relatively short attention span, some oppositional behavioral and aggression. Prolonged temper tantrums, extreme irritability, or pervasive oppositional behavior would not be expected. Determine how these behaviors affect family functioning and what supports the family has to manage them.

Social and Family Functioning

Ask about parents, siblings, and extended family members and their adaptation to the child's special needs. Ask about awareness of community resources for health care funding (e.g., Medicaid and relevant waivers, caveats of private insurance, including benefit exclusions and mechanisms to advocate for appropriate funding), financial supports (e.g., SSI and role of work force services), services to optimize development and function (e.g., early intervention, developmental preschool, special education, inclusion models, private therapies, augmented communication supports), respite, appropriate recreational/social outlets, and transition (e.g., vocational rehabilitation, guardianship association). Current functional goals, intervention supports, and adaptive equipment should be reviewed to identify gaps in needed support. Ensure families have access to information on life and financial planning for CSHCN. As the child with DS matures, it is important to include them in this discussion at a developmentally appropriate level. Pubertal development, self-exploration, menstrual hygiene, and sexuality should be discussed as the child approaches adolescence.

Physical Exam

General

After chromosome results are available, the minor anomalies present play little role in ongoing health care decisions. However if the parent is concerned about any feature, reassurance about their presence is important. Common minor anomalies include:
  • upward-slanting eyes
  • inner epicanthal folds
  • small upturned nose with saddle bridge
  • a protruding tongue that develops fissures with age
  • Brushfield spots
  • small ears
  • short neck with redundant skin folds
  • brachycephaly
  • flat occiput
  • single palmar (simian) crease
  • wide space between first and second toes (sandal toes)
  • clinodactyly of the fifth finger

Growth Parameters

Height, weight, and head circumference (OFC) should be plotted on typical and DS-specific growth charts. Because DS growth charts may be less sensitive to poor growth and failure to thrive (infants with problems such as congenital heart disease were included in DS growth chart development), plotting on typical growth curves is also important.

Vital Signs

Because cardiorespiratory issues are common in this condition, it is important to document baseline vital signs at periodic routine visits. Baseline heart rate may provide a clue to the status of the child's thyroid function. Documenting baseline oxygen saturation is important in the child with a cardiac anomaly, particularly if corrective surgery has not been completed.

HEENT

Examine the tonsils for hypertrophy, which may contribute to airway obstruction. Monitor for middle ear effusions, evidence of chronic sinus infection, or poor nasal flow suggesting adenoidal enlargement. Palpate for thyroid enlargement or nodules. Assess extra-ocular movements, ocular alignment, pupil response, and presence of nystagmus. Observe for evidence of nasolacrimal duct obstruction or chronic blepharitis.

Skin

Examine for dry skin, skin infection, eczema, thickened skin on palms or soles, vitiligo, and alopecia.

Heart

Assess for murmurs, abnormalities in the first and second heart sound, or evidence of heart failure.

Abdomen

Bloating may be seen in children with celiac disease or chronic constipation. Hepatomegaly may be seen with congestive heart failure.

Genitalia

Assess Tanner stage to follow pubertal development.

Musculoskeletal

Monitor skeletal alignment – individuals with DS are at increased risk for scoliosis. Examine for evidence of hip abnormalities, including dysplasia, slipped capital femoral epiphysis (SCFE), dislocation, and avascular necrosis of the femoral head (AVN). Assess for pes planus, which is common but rarely requires intervention. Observe gait for asymmetries, hyperextension at the knees, foot inversion or eversion.

Neurologic Exam

Regular assessment of hypotonia allows for discussion of developmental progress and prognosis as a child matures. Children with more extreme hypotonia may experience slower progress in gross motor development. Assess for signs of spinal cord injury (such as upper and lower track signs, increased reflexes, and clonus) in school-aged and older children, regardless of the findings on the cervical spine radiographs.

Testing

Sensory Testing

Vision: Check for strabismus, cataracts, and nystagmus. Initial ophthalmology referral is recommended by 6 months of age. Test the child’s vision annually, using developmentally appropriate subjective and objective criteria. If not followed by an ophthalmologist, refer to an eye specialist every 2 years (approximately 50% risk of refractive errors between 3 and 5 years). After age 5, annual ophthalmologic evaluation is recommended.

Hearing: If the tympanic membranes cannot be visualized because of stenotic ear canals or if the parents express concern about their child’s hearing, consider referral to an otolaryngologist. Hearing should be screened on an annual basis and may need to be repeated if a concern develops in between routine screens.

Laboratory Testing

Thyroid function (T4 and TSH) should be assessed annually. Celiac reflexive panel (includes anti-gliadin Ab, tissue transglutaminase, and total IgA) is suggested after two years of age and repeated if the patient develops suggestive symptoms. Routine CBCs are not recommended for leukemia screening except in the newborn.

Imaging and EEG

Although not performed routinely, a KUB should be performed in any newborn with DS with emesis to evaluate for duodenal atresia (double bubble sign). Additional assessment with an upper gastrointestinal series (UGI) should be considered to assess anatomy in an infant with DS and gastrointestinal symptoms.

An echocardiogram should be performed on every child with DS to rule out a cardiac defect. In children diagnosed with obstructive sleep apnea, evaluation with an echocardiogram may be indicated on an intermittent basis to assess for pulmonary hypertension.

AAP screening guidelines recommend obtaining radiographs for evidence of atlanto-axial instability or subluxation (cervical spine flexion and extension views) between 3 and 5 years of age. See the discussion under Co-Morbid conditions below.

Genetic Testing

If none has been performed, see Initial Diagnosis.

Subspecialist Collaborations and Other Resources

The vast majority of children with DS will benefit from interdisciplinary care involving a variety of sub-specialists, though not all children will need the same panel. The medical home and parent should collaborate to determine specific assessment goals, which will then determine appropriate referrals. Listed below are the most common subspecialists to which a pediatrician might refer. Given the broad nature of co-morbid conditions, however, certain children with need the input of unique specialists (e.g., rheumatologists, oncologists) – more detail is provided below under Comorbid Conditions.

Developmental Pediatrics (see Services below for relevant providers)

Can help with health monitoring, identifying co-morbid conditions, assessing developmental progress, ensuring optimal intervention services, and managing behavioral concerns.

Pediatric Cardiology (see Services below for relevant providers)

Important for children with congenital heart defects and/or pulmonary hypertension. All infants with DS should have an echocardiogram to confirm cardiac anatomy.

Audiology (see Services below for relevant providers)

Can provide recommended hearing screening. If a hearing impairment is identified, the audiologist monitors hearing status, evaluates for and adjusts amplification, and helps families identify appropriate intervention services and adaptations to allow optimal development of communication.

Pediatric Ophthalmology (see Services below for relevant providers)

DS care guidelines recommend that all children with DS be referred for evaluation by an ophthalmologist by 6 months of age (sooner if eye examination is abnormal).

Pediatric Gastroenterology (see Services below for relevant providers)

May be helpful for the child with DS who has vomiting, constipation, GERD, dysphagia, poor oral intake, chronic diarrhea, or suspected celiac disease.

Pediatric Neurosurgery (see Services below for relevant providers)

Children with DS and confirmed cervical instability (occipital/C1 or C1/C2) may benefit from consultation with a pediatric neurosurgeon. This is particularly important if the child is having symptoms of atlanto-axial instability including neck pain, increased deep tendon reflexes, decline in fine motor control, changing or declining gait pattern, or lower extremity increased muscle tone.

Pediatric Medical Genetics (see Services below for relevant providers)

May be helpful in readdressing or educating regarding recurrence risk and prenatal testing options (particularly in the case of translocation related DS) and providing counseling to the family regarding etiology and outcomes.

Pediatric Dermatology (see Services below for relevant providers)

Children with dermatologic conditions such as vitiligo, alopecia, chronic dry skin, and eczema refractory to treatment may benefit from consultation with a pediatric dermatologist.

Pediatric Otolaryngology (see Services below for relevant providers)

Children with obstructive sleep apnea, chronic sinusitis, recurrent otitis media, and/or conductive hearing loss should be referred to an otolaryngologist for evaluation and to determine potential interventions. An otolaryngologist may be helpful in monitoring middle ear status in children with stenotic external canals.

Developmental Evaluation (see Services below for relevant providers)

Developmental evaluation services (which might include developmental pediatricians, neurologists, psychologists, speech and language pathologists, and occupational therapists) can document the child's current functional abilities and make recommendations regarding optimal intervention programming.

Pediatric Dentistry (see Services below for relevant providers)

Referral to a special center may be necessary if a child requires sedation for dental treatment, particularly if the child's status places them at increased risk for complications of sedation.

Pediatric Endocrinology (see Services below for relevant providers)

May be helpful in optimizing management of thyroid or other hormonal disorders.

Pediatric Neurology (see Services below for relevant providers)

May assist in the diagnosis and management of problems associated with DS but not commonly seen (e.g., tremor, nystagmus, severe hypotonia), neuologic findings not typical of DS (e.g., spasticity, ataxia), relative microcephaly or macrocephaly assessed using DS specific head growth curves, and severe developmental delays.

Pediatric Sleep Medicine (see Services below for relevant providers)

Indicated when guidance is needed to identify or manage a sleep disorder or sleep disordered breathing. A sleep study can help to identify the severity of suspected sleep apnea and the components of obstruction versus central apnea, as well as other sleep disorders such as restless leg syndrome.

Child Psychiatry (see Services below for relevant providers)

Children with DS often have mental health concerns (e.g., anxiety, depression, autism, ADHD). A pediatric psychiatrist with experience evaluating and treating with children with dual diagnosis (i.e., mental health issue in combination with developmental disability) is particularly helpful in optimizing care.

Comorbid Conditions

Individuals with Down syndrome are at risk for a number of associated conditions, discussed below by organ system.

CARDIOVASCULAR
Congenital heart defects are found in 44% of infants with DS. Early mortality is linked to the presence of a cardiac defect, particularly if combined with a gastrointestinal malformation. The following occur with increased frequency in DS:
  • Atrioventricular septal defects, with or without other heart defects (45%)
  • Ventricular septal defects, with or without other heart defects (35%)
  • Isolated secundum atrial septal defect (8%)
  • Isolated persistent patent ductus arteriosus (7%)
  • Isolated tetrology of Fallot (4%)
  • Other (1%)

Acquired Valvular Dysfunction is common in adults without congenital heart disease (up to 50%), with mitral valve prolapse being the most common. Tricuspid, aortic, and mitral insufficiency have also been reported. Echocardiographic screening in adolescence and adulthood has been suggested [Geggel: 1993], particularly prior to dental or other procedures for which antibiotic prophylaxis would be indicated.

NUTRITION
  • Newborns with DS are at risk for feeding problems due to a weak suck and problems related to any organ malformations. The majority of mothers who breast feed are successful. [Aumonier: 1983] Some infants will need significant support during the first few weeks of life to attain success with breast or bottle.
  • Older infants may have lingering tongue thrust, which can delay success with introduction of solids. Oral aversions are also common. Self-feeding skills are often delayed due to generalized hypotonia.
  • Older children are at risk for excessive weight gain. [Grammatikopoulou: 2008]
  • Celiac disease, chronic constipation, and diabetes are relatively common and result in additional need to focus on nutrition.

RESPIRATORY
Children with DS are at increased risk for recurrent acute respiratory illness, including pneumonia, aspiration, bronchiolitis syndromes, and croup, and/or chronic lung disease. Contributing factors may include:
  • Structural abnormalities – midface hypoplasia, large tongue, small subglottic area, laryngomalacia, narrow nasopharynx, tracheobronchomalacia, and tracheal stenosis)
  • Immune deficiencies – both cellular and humoral immune differences have been described. Immunoglobin G subclasses 2 and 4 have been noted to be deficient in some children who have a normal total IgG level.
  • Cardiac conditions
  • Gastro-esophageal reflux or dysphagia leading to aspiration

SLEEP
Sleep apnea occurs in up to 45% of children with DS. Contributing factors may include: structural abnormalities (as mentioned under Respiratory above), tonsillar/adenoidal hyperplasia, hypotonia, obesity, and brainstem dysfunction. Symptoms include:
  • Abnormal breathing patterns in sleep
  • Snoring
  • Abnormal sleeping positions (e.g., sitting up)
  • Fragmented sleep (sometimes without snoring)
  • Inattention
  • Daytime sleepiness
  • Difficult morning arousal (due to carbon dioxide retention)
  • Early morning headaches (due to carbon dioxide retention)
  • Nocturnal enuresis
  • Failure to thrive

GASTROINTESTINAL
The incidence of a gastrointestinal malformation in DS is approximately 5%. The most common are: tracheoesophageal fistula, duodenal obstruction, annular pancreas, imperforate anus, and Hirschsprung Disease. Individuals with DS are also at higher risk for:
  • Esophageal dymotility
  • Gastro-esophageal reflux disease
  • Constipation
  • Gallstones
  • Celiac disease. Up to 20% of individuals with DS and celiac disease have no overt clinical symptoms. [Book: 2001] Screening for celiac disease in children with DS is recommended by many researchers, although the best timing and method remain controversial [Cohen: 2006]. Some experts recommend testing for IgA endomysial antibody (tissue transglutaminase, or TTG) and total IgA at age 2 years. Others recommend screening at a slightly older age because of lower production of endomysial IgA under age 3. It is not helpful to screen prior to exposure to gluten. Please visit the Celiac Disease module for more detail.

NEUROLOGY
  • Microcephaly – because children with DS have relative microcephaly, evaluation of head growth should be based on DS-specific growht charts: Neuroimaging may be considered in those with microcephaly relative to other children with DS.
  • Seizures – the prevalence of seizures in children wiht DS is 8%. Seizure type may include generalized tonic-clonic seizures, partial seizures, and infantile spasms. Of note, about 13% of children with DS and no clinical seizures have EEG abnormalities that may complicate interpretation. The following articles offer useful information specific to children with DS: [Goldberg-Stern: 2001], [Stafstrom: 1994], [Quinlivan: 2005].
  • New Onset Weakness – new onset of focal weakness is relatively common and has a broad differential diagnosis. Etiologies found in a review of ten cases included: infarction related to Moyamoya, vaso-occlusive disease, or venus sinus thrombosis, traumatic subdural hematoma, brain abscess, spinal cord injury (from cervical spine stenosis and/or atlanto-axial instability), and brachial plexus injury. [Worley: 2004] Urgent neurology consultation is indicated for new onset focal weakness.
  • Dementia – Alzheimer-type neuropathologic abnormalities are found in patients with DS, both demented and non-demented. More than half of individuals older than 50 years develop Alzheimer's disease (AD).

MENTAL HEALTH/BEHAVIOR
Dual Diagnosis refers to the co-existence of intellectual disability/mental retardation and a psychiatric disorder, which affects 18-38% of individuals with DS. [Capone: 2006] Co-morbid neuropsychiatric disorders include ADHD, autism spectrum disorders, stereotypical movements, oppositional defiant and disruptive behavior disorders, anxiety, depression, obsessive-compulsive disorder, and, rarely, psychosis. A summary of behavioral disorders, their presentation and treatment can be found in Neurobehavioral Disoders in Children, Adolescents, and Young Adults with Down Syndrome. [Capone: 2006] Other sections of the Medical Home Portal may be helpful, including those on Autism Spectrum Disorders, Depression (in development), and ADHD (in development).

Attention Deficit Disorder
Concerns about focus, attention span, activity level and/or impulsiveness are common. The following should be considered in the evaluation of attention problems:
  • Hearing deficits
  • Vision deficits
  • Thyroid disorders
  • Sleep problems (e.g., sleep apnea can contribute to impaired attention)
  • Impaired expressive communication
  • Education setting not appropriate for cognitive level or learning style
  • Emotional problems (e.g., depression, anxiety)
  • Auditory processing disorders
These issues are summarized in Attention Problems in Down Syndrome: Is this ADHD? by Dianne McBrien, MD, a developmental pediatrician at Children's Hospital of Iowa.

Autism
The prevalence of autism spectrum disorders (ASD) is 5-10% in children with DS and is more common in boys than girls. [Capone: 2005] Standardized autism rating scales have not been validated in individuals with DS. It is therefore recommended that existing DSM-IV criteria be rigorously applied over multiple observations in different settings. The accuracy or utility of a co-morbid diagnosis of ASD in children with profound cognitive impairment (IQ<25) has been questioned.

EARS/HEARING
Individuals with DS are at risk for hearing loss which may be sensorineural, conductive, or mixed in etiology. By adulthood, 60-80% have hearing loss. During early development, even minor hearing impairment can negatively impact language and cognitive development. Frequent monitoring of the child’s hearing status is recommended. The American Academy of Pediatrics (AAP) guidelines [American: 2001] suggest:
  • Hearing should be tested by an objective method (e.g., otoacoustic emissions) at birth or by three months
  • Assessment by history at every well child visit
  • Assessment "by objective method" at 2, 4, 6, 9, and 12 months
  • Behavioral audiogram by 1 year
  • Assessment "by objective method" at 2, 3, 4 years, as needed between 5 and 13 years, and annually after 13 years
  • Objective hearing assessment should also be considered whenever there is parental concern or evidence of persistent middle ear effusions.
Children with DS have a high incidence of sino-pulmonary disease, including recurrent/chronic sinusitis and otitis. Monitoring for persistent middle ear fluid is critical, though often very difficult without special equipment and clinical signs of persistent effusion may be minimal. Tympanometry may be helpful in the cooperative child. Consider referral to an otolaryngologist for monitoring if the middle ear cannot be adequately visualized or if the child has recurrent sinus or ear infections. Children with DS may also have auditory processing deficits that affect word perception, short term auditory memory, and sequential auditory memory. If a family, child, or teacher suspects auditory processing difficulties, referral to an audiologist for evaluation may be indicated. The following may be helpful for families: Hearing and Vision Loss Associated with Down Syndrome.

EYES/VISION
Individuals with DS are at risk for:
  • Nystagmus
  • Strabismus (42%, usually acquired)
  • Farsightedness
  • Nearsightedness
  • Accomodative weakness
  • Amblyopia (22%)
  • Keratoconus (cone-shaped cornea)
  • Congenital cataracts
  • Blepharitis
  • Conjunctivitis
  • Lacrimal duct obstruction
  • Retinal abnormalities

In the newborn period and first year of life, an absent or abnormal red reflex is an indication for urgent referral to an ophthalmologist since a dense cataract can cause the development of amblyopia within a short period of time.

Following a normal routine newborn examination, the AAP suggests consideration of referral to an ophthalmologist at 2 months, 6 months, and 24 months of age. Other guidelines suggest routine monitoring by standard office screening methods at every well child check until 12 months of age and then annually. The following links may be helpful for families: Hearing and Vision Loss Associated with Down Syndrome and National Keratoconus Foundation

DENTAL
Children and young adults with DS are at risk for:
  • Significant delay in eruption of both primary and secondary teeth
  • Missing and/or malformed teeth
  • Dental crowding and overbite
  • Peridontal disease, developing in teen years may be rapidly progressive [Bagić: 2003]
  • Halitosis
  • Cheilosis from chronic oral breathing
  • Aphthous ulcers
  • Oral candidal infections
  • Necrotizing ulcerative gingivitis
Providing preventive dental care may be difficult because:
  • Cognitive and fine motor skills may limit the child's ability to perform brushing and flossing
  • Anatomy (small mouth) and oral aversions may make it difficult for others to provide care
  • Behavioral and health issues (e.g., sleep apnea, congenital heart disease) may increase the risk of sedation in the dental setting
  • Abnormalities in the roots of the teeth in individuals with DS may impact orthodontic planning.
A helpful handout for parents: Dental Care for the Patient with Down Syndrome

ENDOCRINE
Thyroid Disorders – both congenital and autoimmune hypothyroidism occur with increased frequency in DS. Screening with a TSH is indicated in the newborn period, at 6 months, 12 months, and then yearly. Some experts recommend measuring thyroxine level (free T4) along with TSH. [American: 2001], [Unachak: 2008], [Rose: 2006]

AUTOIMMUNE DISORDERS
The following are associated with DS:
  • Hashimoto's thyroiditis [Unachak: 2008]
  • Alopecia areata
  • Auto-immune adrenalitis
  • Pernicious anemia
  • Vitiligo
  • Diabetes mellitus [Gillespie: 2006]
  • Autoimmune hepatobiliary disease (chronic active hepatitis, primary sclerosing cholangitis)
  • Juvenile idiopathic arthritis [Juj: 2009]
  • Celiac disease [Book: 2001]
A number of other disorders thought to be autoimmune have been reported, including multiple sclerosis, demyelinating neuropathy, and systemic lupus erythematosus. Though more common in adults, these disorders have been reported in children with DS. The mechanisms for autoimmune disease in DS are poorly understood. They may occur in combination and are more common in patients with certain HLA markers. In childhood, screening is only recommended for thyroid dysfunction and celiac disease.
ORTHOPEDIC
Hypotonia, ligament laxity, and increased joint flexiblity lead to orthopedic concerns. Individuals may also exhibit skeletal differences, such as a thin weak acetabular capsule, femoral anteversion, and a deficient posterior superior acetabulum which may contribute to orthopedic problems. Orthopedic issues include:
  • Spine – occipitocervical and cervical spine instability (atlanto-axial rotary subluxation, atlanto-occipital instability), scoliosis (7-15%), spondylolithesis, postural lordosis
  • Hip – up to 8% may have hip problems including: developmental dysplasia of the hip (in this population, hip problems may begin after skeletal maturity and may have significant impacts on functional ambulation), avascular necrosis, and slipped capital femoral epiphysis.
  • Lower Leg – genu valgum, patellar dislocation
  • Feet – planovalgus, metatarsus primus varus, hallux valgus.
  • Increased risk for low bone density and vitamin D deficiency
  • Atlanto-axial instability – while 13-14% of patients with DS show evidence of atlanto-axial instability (AAI) on x-ray, only 1-2% have symptoms that require treatment. The value of screening for upper cervical spine instability has been questioned. [American: 1995] Although, little is known about the positive and negative predictive values of screening x-rays, they remain recommended by the AAP and are required by the Special Olympics for participation. The normal atlas-dens interval is less than 3.5mm in children but may normally reach 5mm in children with DS. Since patients who have experienced alanto-axial dislocation generally have had warning signs, it is important to monitor for signs or symptoms of chronic spinal cord injury. The yearly physical should include examination of reflexes, including the Babinski. A child with symptoms should have immediate evaluation. Parents should be educated to notify their physician if their child has:
    • Neck pain
    • Persistent head tilt
    • Intermittent or progressive weakness
    • Changes in gait or loss of motor skills
    • Loss of bowel or bladder control
    • Increased or decreased muscle tone in the legs
    • Changes in sensation in the hands or feet
Relevant citations: DERMATOLOGIC
Individuals with DS are at risk for:
  • Alopecia areata The yearly physical should include examination of reflexes, including the Babinski. A child with symptoms should have immediate evaluation. asymptomatic nonscarring hair loss with spontaneous remissions and exacerbations, often in combination with vitiligo. Alopecia may be localized or may involve the entire scalp or body. Children with alopecia/vitiligo should be carefully evaluated (history and physical) to identify any other associated autoimmune conditions.
  • Atopic dermatitis
  • Syringomas
  • Benign skin tumors arising from sweat glands commonly about the eyes/face
  • Norwegian scabies (crusted scabies)
  • Xerosis
  • Milia-like idiopathic calcinosis cutis
  • Skin infections, such as bacterial or fungal folliculitis
  • Elastosis perforans serpiginosa: deep red raised lesions often occurring about the neck, chest and arms
  • Angular chelosis
  • Vitiligo
A number of benign dermatologic differences are described including:
  • Acrocyanosis in the newborn
  • Cutis marmorata (may be present up to several months of age in infants with DS)
  • Hyperkeratosis of palms and soles
UROLOGIC
The following conditions have been reported in infants with DS:
  • Renal hypoplasia
  • Hydroureteronephrosis
  • Ureterovesical and ureteropelvic junction obstruction
  • Vesicoureteral reflux
  • Posterior urethral valves
  • Cryptorchidism
  • Testicular cancer
  • Infertility
While not part of the AAP recommendations, some experts recommend routine screening of infants with DS with renal ultrasonography and, if abnormal, a voiding cystourethrogram. [Mercer: 2004] Any child with DS and urinary symptoms (e.g., UTI, difficulty with voiding, unexplained enuresis) should have evaluation of the urinary tract. Testicular examination during yearly physical exam is important, particularly in patients unlikely to do self-exams.

Resources

Information & Support

For Professionals

Trisomy 21 (OMIM)
Extensive review of the literature, including clinical features and genetics, from the Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University, providing technical information for providers on genetic disorders, links to MEDLINE, and links to other scientific information and sites.

Information for Healthcare Professionals (National Down Syndrome Society)
Physician-oriented information from the National Down Syndrome Society. This website offers a downloadable "Guide for New and Expectant Parents."

For Parents and Patients

Support

Utah Parent Center
This statewide non-profit 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. The Center provides information on support and advocacy for families of children with special health care needs.

National Down Syndrome Congress
The NDSC, a membership organization, offers parent resources, including a "new parent package" of information, as well as news and events, government activities, and information on self-advocacy.

The International Mosaic Down Syndrome Association
Aims to assist any family or individual whose life has been affected by mosaic Down syndrome.

International Foundation for Genetic Research (The Michael Fund)
Advocacy organization aimed at fund-raising for research, improving care and education of children with DS, and right-to-life issues.

Utah Down Syndrome Foundation
A non-profit organization, established in 1977, to provide support, training, counseling, and education to individuals with Down syndrome, their parents, families, and the community. This volunteer organization has 14 chapters throughout the state.

General

Down Syndrome (Genetics Home Reference)
This site, sponsored by the National Library of Medicine, offers a wealth of information and links to more information about Down syndrome. The information is aimed at consumers/patients/families.

Down Syndrome Issues and Information (down syndrome online)
An extensive series of comprehensive reference resources examining issues for people with Down syndrome from birth to adulthood.

Down Syndrome (MedlinePlus)
From the National Library of Medicine and National Insitutes of Health, offers many links to high-quality sources of information for patients and their families.

Living with Down Syndrome (PDF Document 951 KB)
This 34 page document provides information about Down syndrome; family and school issues; People First and cultural issues; and more from The Down Syndrome Educational Trust.

Down Syndrome - Health Issues
Site developed and edited/authored by a pediatrician, Len Leshin, MD, who has a son with Down syndrome. Includes a number of essays by experts about specific health topics and provides other useful links.

Practice Guidelines

The guideline from the American Academy of Pediatrics (AAP) was developed for primary care clinicians caring for patients with DS. It is not exhaustive – for example, while celiac disease and obstructive sleep apnea are commonly associated with DS, no screening recommendations are offered. It is important for the clinician to obtain a complete history and review of systems when evaluating children or adults with DS, addressing all of the patients/families concerns.

American Academy of Pediatrics - Committee on Genetics.
Health supervision for children with Down syndrome.
Pediatrics. 2001;107(2):442-9. PubMed abstract / Full Text

Patient Education

Altaoaxial Instability Parent Handout

Dental Care for the Patient with Down Syndrome
from a paper by Dr. Elizabeth S. Pilcher, published in 1998; on the Down Syndrome: Health Issues site curated by Len Leshin, MD, FAAP.

Toilet Training and Down Syndrome (National Down Syndrome Society)
The NDSS offers this guide on their website as a guide to determine toileting readiness and teaching toileting skills. Includes simple images that may be used as visual cues. This guide may be helpful in teaching toileting skills to any child with a developmental disability.

Tools

Down Syndrome Checklist (PDF Document 30 KB)
Checklist of recommended screening evaluations through out childhood that can be printed and placed in the patients medical chart to monitor patient care.

Down Syndrome Growth Charts (Boys, English measures) (PDF Document 247 KB)
Printable growth charts for height, weight, and head circumference for children with trisomy 21.

Down Syndrome Growth Charts (Boys, Metric) (PDF Document 251 KB)
Printable growth charts for height, weight, and head circumference for children with trisomy 21.

Down Syndrome Growth Charts (Girls, English measures) (PDF Document 246 KB)
Printable growth charts for height, weight, and head circumference for children with trisomy 21.

Down Syndrome Growth Charts (Girls, Metric) (PDF Document 247 KB)
Printable growth charts for height, weight, and head circumference for children with trisomy 21.

Services

Audiology

See all Audiology services providers (56) in our database.

Child Psychiatry

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Developmental Evaluation

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Developmental Pediatrics

See all Developmental Pediatrics services providers (2) in our database.

Down Syndrome Clinics

See all Down Syndrome Clinics services providers (1) in our database.

Pediatric Cardiology

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Pediatric Dentistry

See all Pediatric Dentistry services providers (17) in our database.

Pediatric Dermatology

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Pediatric Endocrinology

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Pediatric Gastroenterology

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Pediatric Medical Genetics

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Pediatric Neurology

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Pediatric Neurosurgery

See all Pediatric Neurosurgery services providers (1) in our database.

Pediatric Ophthalmology

See all Pediatric Ophthalmology services providers (5) in our database.

Pediatric Otolaryngology

See all Pediatric Otolaryngology services providers (9) in our database.

Pediatric Sleep Medicine

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

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

Helpful Articles

Pubmed search on Down syndrome: reviews over last 2 years

Authors

Author: Lisa Samson-Fang MD, 2/2009
Content Last Updated: 1/2010

Page Bibliography

American Academy of Pediatrics - Committee on Genetics.
Health supervision for children with Down syndrome.
Pediatrics. 2001;107(2):442-9. PubMed abstract / Full Text

American Academy of Pediatrics Committee on Sports Medicine and Fitness.
Atlantoaxial instability in Down syndrome: subject review. American Academy of Pediatrics Committee on Sports Medicine and Fitness.
Pediatrics. 1995;96(1 Pt 1):151-4. PubMed abstract

Aumonier ME, Cunningham CC.
Breast feeding in infants with Down's syndrome.
Child Care Health Dev. 1983;9(5):247-55. PubMed abstract

Bagić I, Verzak Z, Cuković-Cavka S, Brkić H, Susić M.
Periodontal conditions in individuals with Down's syndrome.
Coll Antropol. 2003;27 Suppl 2:75-82. PubMed abstract

Book L, Hart A, Black J, Feolo M, Zone JJ, Neuhausen SL.
Prevalence and clinical characteristics of celiac disease in Downs syndrome in a US study.
Am J Med Genet. 2001;98(1):70-4. PubMed abstract

Brockmeyer D.
Down syndrome and craniovertebral instability. Topic review and treatment recommendations.
Pediatr Neurosurg. 1999;31(2):71-7. PubMed abstract

Bull MJ and the American Academy of Pediatrics Committee on Genetics.
Health Supervision for Children With Down Syndrome.
Pediatrics. 2011;128(2):393-406. PubMed abstract / Full Text

Caird MS, Wills BP, Dormans JP.
Down syndrome in children: the role of the orthopaedic surgeon.
J Am Acad Orthop Surg. 2006;14(11):610-9. PubMed abstract

Capone G, Goyal P, Ares W, Lannigan E.
Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome.
Am J Med Genet C Semin Med Genet. 2006;142C(3):158-72. PubMed abstract

Capone GT, Grados MA, Kaufmann WE, Bernad-Ripoll S, Jewell A.
Down syndrome and comorbid autism-spectrum disorder: characterization using the aberrant behavior checklist.
Am J Med Genet A. 2005;134(4):373-80. PubMed abstract

Cohen WI.
Current dilemmas in Down syndrome clinical care: celiac disease, thyroid disorders, and atlanto-axial instability.
Am J Med Genet C Semin Med Genet. 2006;142C(3):141-8. PubMed abstract

Geggel RL, O'Brien JE, Feingold M.
Development of valve dysfunction in adolescents and young adults with Down syndrome and no known congenital heart disease.
J Pediatr. 1993;122(5 Pt 1):821-3. PubMed abstract

Gillespie KM, Dix RJ, Williams AJ, Newton R, Robinson ZF, Bingley PJ, Gale EA, Shield JP.
Islet autoimmunity in children with Down's syndrome.
Diabetes. 2006;55(11):3185-8. PubMed abstract

Goldberg-Stern H, Strawsburg RH, Patterson B, Hickey F, Bare M, Gadoth N, Degrauw TJ.
Seizure frequency and characteristics in children with Down syndrome.
Brain Dev. 2001;23(6):375-8. PubMed abstract

Grammatikopoulou MG, Manai A, Tsigga M, Tsiligiroglou-Fachantidou A, Galli-Tsinopoulou A, Zakas A.
Nutrient intake and anthropometry in children and adolescents with Down syndrome--a preliminary study.
Dev Neurorehabil. 2008;11(4):260-7. PubMed abstract

Juj H, Emery H.
The arthropathy of Down syndrome: an underdiagnosed and under-recognized condition.
J Pediatr. 2009;154(2):234-8. PubMed abstract

Mercer ES, Broecker B, Smith EA, Kirsch AJ, Scherz HC, A Massad C.
Urological manifestations of Down syndrome.
J Urol. 2004;171(3):1250-3. PubMed abstract

Pueschel SM.
Should children with Down syndrome be screened for atlantoaxial instability?.
Arch Pediatr Adolesc Med. 1998;152(2):123-5. PubMed abstract

Quinlivan R, Roper H, Davie M, Shaw NJ, McDonagh J, Bushby K.
Report of a Muscular Dystrophy Campaign funded workshop Birmingham, UK, January 16th 2004. Osteoporosis in Duchenne muscular dystrophy; its prevalence, treatment and prevention.
Neuromuscul Disord. 2005;15(1):72-9. PubMed abstract

Rose SR, Brown RS, Foley T, Kaplowitz PB, Kaye CI, Sundararajan S, Varma SK.
Update of newborn screening and therapy for congenital hypothyroidism.
Pediatrics. 2006;117(6):2290-303. PubMed abstract

Stafstrom CE, Konkol RJ.
Infantile spasms in children with Down syndrome.
Dev Med Child Neurol. 1994;36(7):576-85. PubMed abstract

Tredwell SJ, Newman DE, Lockitch G.
Instability of the upper cervical spine in Down syndrome.
J Pediatr Orthop. 1990;10(5):602-6. PubMed abstract

Unachak K, Tanpaiboon P, Pongprot Y, Sittivangkul R, Silvilairat S, Dejkhamron P, Sudasna J.
Thyroid functions in children with Down's syndrome.
J Med Assoc Thai. 2008;91(1):56-61. PubMed abstract

Worley G, Shbarou R, Heffner AN, Belsito KM, Capone GT, Kishnani PS.
New onset focal weakness in children with Down syndrome.
Am J Med Genet A. 2004;128A(1):15-8. PubMed abstract / Full Text