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Down Syndrome

Description

Other Names

Trisomy 21
Down's syndrome
translocation Down syndrome
mosaic Down syndrome

Diagnosis Coding

ICD-9

758.0, Down syndrome

More detailed information about ICD-9 coding for related conditions can be found in Down syndrome ICD9(PDF Document 74 KB).

ICD-10

Q90.0, Trisomy 21, nonmosaicism (meiotic nondisjunction)

Q90.1, Trisomy 21, mosaicism (mitotic nondisjunction)

Q90.2, Trisomy 21, translocation

Q90.9, Down syndrome, unspecified

Description

Down syndrome (DS), also commonly known as trisomy 21, is the most common genetic disorder causing intellectual disability and the most frequently occurring human chromosomal syndrome. Several physical characteristics are common to individuals with DS, particularly features of the face, hands, and feet. Numerous other congenital anomalies occur with increased frequency in DS, such as endocardial cushion defects, intestinal atresias, and Hirschsprung disease. A number of acquired conditions also occur with increased frequency, such as hypothyroidism, hearing impairment, and celiac disease.

Prevalence

The overall prevalence of DS is 1/732 (1.3/1000). [Canfield: 2006] An estimated 5,500 infants with DS are born annually in the United States. The risk of conceiving an infant with DS is related to maternal age – the risk of DS with each pregnancy is 1/1,600 for women less than 25 years of age, 1/250 for women age 35-39 years, and 1/40 for women greater than 42 years of age. Because a large majority of babies are born to younger women, the majority of babies with DS,are born to women under the age of thirty, even though the risk per pregnancy is higher in older women. With the advent of universal prenatal screening, the incidence of trisomy 21 may decline, as has been observed in some European countries. [Morris: 2009]

Genetics

In the majority of individuals with trisomy 21, the additional chromosome results from nondisjunction of chromosome 21 during meiosis (>90% are of maternal origin). A small percentage (4%) of DS results from a translocation, with attachment of the long arm of an extra chromosome 21 to another chromosome. An additional small percentage results from nondisjunction during mitosis of the fertilized egg, resulting in mosacism.

Prognosis

There is wide variability in the degree of associated cognitive disability and social adaptability. Scientific advances in health care and social advances in understanding the importance of educational and social interventions have led to substantial improvements in the likelihood of a productive life for individuals with Down syndrome. With the aid of a job coach, many adults with DS are employed in the private sector.

girl with Down Syndrome
Based on data from the West Australian birth defects registry, approximately 4% of live born infants with trisomy 21 die within the first year of life and an additional 7% die before 18 years of age. [Leonard: 2000] There is a strong correlation between congenital heart defects and death during the first 10 years of life. Pneumonia and other respiratory infections are also a primary cause for mortality. Nearly one third of individuals with trisomy 21 will live into or beyond their fifties.



Roles Of The Medical Home

For the child with DS, the Medical Home should provide treatment of acute illness, as well as well child and chronic care visits at which preventive services are provided and progress and problems can be reviewed and managed proactively. Treatment guidelines are available for the care of children with DS and the Medical Home is pivotal in implementing recommended screening, evaluations, and interventions. Children with DS often require the attention of sub-specialists and the Medical Home should initiate and coordinate these visits in collaboration with the family. The management of DS focuses on maximizing the child's capabilities at home and in the community. Treatment should be interdisciplinary and start as early as possible. Specific goals include optimizing growth and development and providing ongoing information to families regarding available interventions, relevant community resources, evolving scientific understanding of trisomy 21, and emerging treatments.

Practice Guidelines

A consensus panel of the American Academy of Pediatrics (AAP) recently published guidelines for the care of children with DS. [Bull: 2011]  Changes from previous guidelines include enhanced evaluation for dysphagia in infants, more focus on early diagnosis of sleep apnea, monitoring for celiac disease and iron deficiency, utilizing standard growth charts (not trisomy 21-specific growth charts), and focusing on education, monitoring physical exam, and early recognition of symptoms of myopathy (rather than previously recommended screening c-spine x-rays). Treatment guidelines are not exhaustive – many co-morbid conditions in trisomy 21 that occur relatively infrequently are not addressed.  It remains important for the clinician to obtain a complete history and review of systems when evaluating children or adults with DS and to address all of the patient's/family's concerns.

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

Clinical Assessment

Overview

The health care of children with trisomy 21 begins with identification of the condition (based upon in utero screening or recognition of clinical features after delivery), confirmation of the diagnosis, identification of associated birth defects, and counseling families regarding the etiology of DS, range of outcomes, services available to optimize outcomes, and recurrence risk.  

Screening

For The Condition

Current guidelines for screening for fetal trisomy 21 include offering all women diagnostic testing for fetal aneuploidy by chorionic villus sampling (CVS), if available, or amniocentesis.  First trimester screening for pregnancy-associated plasma protein A (PAPP-A), human chorionic gonadotropin (hCG), and, if available, nuchal translucency (NT) assessment is acceptable for women presenting early in pregnancy. Regardless of the results of chromosome analysis or biochemical screening, all women who have an elevated NT should be offered a detailed anatomic ultrasound, echocardiogram, or both. Women presenting for prenatal care at the second trimester should be offered multiple marker screening; those who had trisomy 21 screening in the first trimester and/or CVS/amniocentesis should be offered maternal serum alpha-fetoprotein screening and/or an anatomic survey between 16 and 20 weeks gestation to detect neural tube defects. The use of first and second trimester screening have improved detection rates and lowered false positive rates; adequate systems to manage screening protocols, disclosure/non-disclosure requests, and counseling for individualized decision-making is critical.[Driscoll: 2008]

Of Family Members

If a child with trisomy 21 is determined to have a chromosomal translocation, it important to determine if the parents carry a balanced translocation, since this impacts recurrence risks.

For Complications

Current guidelines [Bull: 2011] recommend screening for thyroid disorders, hearing impairments, visual concerns, celiac disease, sleep apnea, dysphagia, iron deficiency anemia, and atlanto-axial instability

Presentations

Current prenatal screening will identify approximately 85-90% of fetuses with DS. A European study found that roughly 90% of mothers of affected fetuses opted to terminate pregnancy [Morris: 2009]. The birth of an infant with DS that was not previously identified is becoming less common but will continue to occur. Clinicians ask "does this child have Down syndrome?" when a newborn is noted to have atypical features, hypotonia, or a DS-associated major malformation. An infant's presentation may be subtle, leading to occasional missed diagnoses in the newborn period. These infants are likely to be recognized by the primary care clinician due to poor growth, feeding concerns, developmental delays, hypotonia, or concern for a medical condition associated with DS. Ten percent of individuals with DS are identified after 1 week of age and over half of these not until adulthood (note identification rates reflect past screening approaches and it is not clear how updated screening guidelines will impact them). Delayed diagnosis is more likely when an individual has mosaic trisomy 21, in which physical features may be subtle. Mosaic trisomy 21 has been identified in adult individuals with intellectual challenges who had no physical features of DS.

Diagnostic Criteria

While physical features may suggest a diagnosis of DS, confirmation requires chromosome analysis, which, in the majority of individuals, will reveal an extra chromosome 21. In 4% of patients with DS, analysis will find the attachment of an extra long arm of chromosome 21 to another chromosome (translocation DS). A very small percentage have an extra chromosome 21 in only some of their somatic cells, due to nondisjunction during mitosis of the fertilized egg (mosaic DS).

Differential Diagnosis

Since many physical features of DS occur occasionally in typical infants, the clinician should look for a constellation of findings when considering the diagnosis. Nevertheless, diagnostic confusion can occur – in one laboratory's review, among blood samples obtained by clinicians to confirm or exclude trisomy 21, 28% had a normal karyotype. [Devlin: 2004] Epicanthal folds, protruding tongue, simian crease, widely-spaced first and second toes, hypotonia, and up-slanting palpebral fissures were physical findings that raised concern in the karyotypically normal infants. Confusing DS with another genetic syndrome is uncommon but can occur, since its features can overlap with other syndromes (e.g., Smith-Magenis syndrome, Noonan syndrome). These issues underscore the importance of genetic testing to confirm diagnosis.

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 associated with 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 has been recommended in the AAP treatment guidelines for ages 13-21 if “there is a history of increasing fatigue, shortness of breath, or exertional dyspnea or abnormal physical exam findings, such as a new murmur or gallop." [Bull: 2011]

Pulmonary Hypertension may be diagnosed at birth or may develop in the child with unrecognized or untreated sleep apnea or heart defect. If untreated, over the long term, pulmonary hypertension may not be reversible and, in the patient with a unrepaired heart defect, Eisenmenger syndrome may evolve.

Nutrition

  • Newborns with DS are at risk for feeding problems due to a weak suck and problems related to any organ malformations. However, 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]
  • Behavioral feeding concerns, 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

A case series of high altitude pulmonary edema was reported that included 6 children with DS [Durmowicz: 2001].  Some of these children had underlying congenital heart defects and/or pulmonary hypertension. It is unclear if children with trisomy 21 have an increased risk of altitude sickness but the authors of the case series suggested that care be taken when traveling to moderate altitudes with children with DS, particularly those with obstructive sleep apnea that might contribute to altered chemoresponsiveness to hypoxia.

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 dysmotility
  • 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 symptoms that may be related to celiac disease in children with DS at yearly visits and serologic screening if symptoms are present. See the Celiac Disease module for more detail.
Hematologic  Neonates with trisomy 21 can have transient asymptomatic blood count abnormalities including neutrophilia, thrombocytopenia, and polycythemia. 10% of infants with DS develop transient myeloproliferative disease (characterize by the presence of blasts on the smear) with spontaneous regresssion in the vast majority transient myeloproliferative disease can itself cause significant morbidity/mortality due to rare liver/heart failure, sepsis, DIC, and hyperviscosity. However up to 20% of children with DS and myeloproliferation develop myeloid leukemia (often delayed with a mean age onset of 20 months) and monitoring for resolution of the myeloproliferation (and continued intermittent monitoring until 3 years of age) is indicated in children who have had transient myeloproliferation.  

Children with DS are at an increased risk of leukemia throughout childhood. Despite the increased incidence, the development of leukemia is still a relatively rare event and routine screening (beyond a complete blood count with differential at birth) is not recommended.

Guidelines recommend yearly monitoring of hemoglobin and for risk factors of iron deficiency with a CRP/ferritin (or reticulocyte hemoglobin) obtained yearly if any risk factors are present.

Neurology

  • Microcephaly – Is relatively common in trisomy 21. Neuroimaging may be considered in those with severe microcephaly. Although the current guidelines do not recommend use of the previously derived DS growth charts to monitor growth, they remain the only published standard that a clinician might use to determine the extent to which a child head circumference is below that typically observed in trisomy 21.
  • Seizures – the prevalence of seizures in children with 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, with or without clinical dementia. More than half of individuals older than 50 years develop Alzheimer's disease (AD).
  • Myelopathy may result from AAI or subluxation of the occiput on C1 due to the ligamentous laxity seen in some patients with trisomy 21.  Current evidence does not support the use of screening x-rays in asymptomatic children as they have proven to be sensitive or specific to development of myelopathy. All families should be educated on the signs and symptoms of myelopathy (change in gait or use of arms or hands, change in bowel or bladder function, neck pain, stiff neck, head tilt, torticollis, how the child positions his or her head, change in general function, or weakness) and instructed to seek care if signs/symptoms emerge.  Families should understand that participation in certain sports (gymnastics, football, soccer, diving) may carry a higher risk of spinal cord injury and that use of a trampoline is not recommended.  Families should also be educated about positioning precautions for all children at risk for AAI during anesthesia/sedation, surgical procedures, and radiographic examinations.  At yearly visits, medical home providers should reinforce this information and perform a neurologic exam monitoring for any signs of myelopathy (increased tone, brisk reflexes, clonus, positive Babinski).  If signs or symptoms emerge, evaluation should proceed with c-spine x-rays (neutral position followed by flexion/extension only if no abnormality is seen), neuroimaging, and consultation with neurosurgeon or orthopedic surgeon with expertise in this area.  Special Olympics has their own set of screening guidelines and, at the time of this publication, require screening neck x-rays to participate.

Mental Health/Behavior

Dual Diagnosis refers to the co-existence of intellectual disability 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 Disorders 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, and Attention Deficit Hyperactivity Disorder (ADHD).

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 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. Regressive autism has been noted to occur in children with DS at an older age than seen in children without DS who have an autistic regression.

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.

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 (due to often very narrow ear canals) 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)
  • Far-sightedness
  • Near-sightedness
  • Accommodative weakness
  • Amblyopia (22%)
  • Keratoconus (cone-shaped cornea)
  • Congenital cataracts
  • Blepharitis
  • Conjunctivitis
  • Lacrimal duct obstruction
  • Retinal abnormalities

The following 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
  • Periodontal 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 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]  In the event of a mildly elevated TSH with a normal free T4, measurement of thyroid antibodies may help to identify those with euthyroid Hashimoto’s thyroiditis who may be more likely to progress to hypothyroidism over time. Of those with subclinical thyroid disease, only a minority will progress to hypothyroidism and no consensus exists on the need to treat subclinical hypothyroidism.

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 in nature 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.

Orthopedics

Hypotonia, ligament laxity, and increased joint flexibility 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 that may contribute to orthopedic problems. Orthopedic issues include:
  • Spine – occipitocervical and cervical spine instability (atlanto-axial rotary subluxation, atlanto-occipital instability), scoliosis (7-15%), spondylolisthesis, 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 significantly affect 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 are no longer recommended by the AAP and but currently 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 atlanto-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: [Bull: 2011]

Dermatologic

Individuals with DS are at risk for:
  • Alopecia areata:  asymptomatic non-scarring 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 cheilosis
  • Vitiligo
A number of benign dermatologic differences are also 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
  • Hydro-uretero-nephrosis
  • Uretero-vesical and uretero-pelvic junction obstruction
  • Vesico-ureteral 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.

Pearls & Alerts

Sleep apnea occurs in up to 45% of individuals with DS.

The etiology may be obstructive, central, or mixed. 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.

Treatment guidelines no longer recommend screening all patients with x-rays. Rather, clinical care should focus on education for families regarding early symptoms and monitoring for emergence of clinical signs of AAI. See below under CoMorbid Conditions for more detail.

History & Examination

The initial evaluation of the child with suspected Down syndrome should focus on the prenatal, medical, and developmental history, as well a complete physical and developmental evaluation as outlined below.

Follow-up visits 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.

Family History

A three-generation pedigree is indicated, though a family history of DS or other chromosome abnormality is unlikely. The incidence of aneuploidy in offspring increases with parental age, particularly maternal age. A family history of pregnancy loss, especially miscarriages, can suggest a familial translocation.

Pregnancy Or Perinatal History

The pregnancy and perinatal history may include: abnormal prenatal ultrasounds (e.g., polyhydramnios, suggesting duodenal obstruction, or minor ultrasound findings, such as redundant nuchal skin and increased nuchal translucency), abnormal first and second trimester maternal screening (including confirmation of diagnosis by amniocentesis or chorionicvillus sampling in some patients), and detection of structural defects (including the prenatal diagnosis by ultrasound of cardiovascular malformations or duodenal atresia). The perinatal history is usually uncomplicated.

Current & Past Medical History

Document past and present co-morbid conditions, including prior evaluative (e.g., cardiac echo) and surgical procedures. A full review of symptoms should is helpful, given the myriad co-morbid conditions associated with DS. Of particular concern are cardiorespiratory, sleep, feeding, gastrointestinal symptoms, learning/behavior, concerns for hearing impairment, signs or symptoms of myelopathy, and concerns regarding hearing and vision.

Developmental & Educational Progress

The child's functional abilities are key to management. Assess the child’s method and level of expressive communication and his/her understanding of language. Many children with DS have significantly higher receptive than expressive language abilities. Typical DS language milestones include:
  • smiling by 2 months (SD 1.5-4 months)
  • verbalizing single words by 16 months (SD 9-31 months)
  • verbalizing early phrases by 28 months (SD 19-96 months)
Average ages for attainment of gross motor skills in DS include:
  • Rolling stomach to back by 6 months
  • Rolling back to stomach by 7 months
  • Sitting independently at 11 months
  • Belly crawl (>5 ft) by 14 months
  • Pull to stand from hands and feet by 17 months
  • Independent standing (>10 sec) by 21 months
  • Walking (15-20 ft) by 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, including sleep and feeding concerns, internalizing/externalizing behaviors, and social inclusion. Consider whether problem behaviors and their frequency and intensity are consistent with the child's functional abilities. The 5 year old whose receptive language skills are at the 3 year 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.

Maturational Progress

Pubertal development should be expected within the same age parameters as for children without DS.

Social & Family Functioning

The understanding of DS by parents, siblings, and extended family members and their adaptation to the child's special needs should be discussed. Ask family members if they have known someone with DS may uncover preconceived notions about outcomes. 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 their child. Include the child in these discussions at a developmentally appropriate level. Pubertal development, self-exploration, menstrual hygiene, and sexuality should be discussed as the child approaches adolescence.

Physical Exam

General

In a child with suspected DS, the presence of minor anomalies should be documented. Because these may contribute to parents' concern about the stigma of DS, 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
All of these are found in individuals without DS. The presence of multiple such anomalies raises suspicion for DS or another genetic syndrome. After chromosome results are available, the minor anomalies play little role in health care decisions.

Vital Signs

Document baseline vital signs and oxygen saturation.

Growth Parameters

Height, weight, and head circumference (OFC) should be plotted on typical growth charts. The use of previously published DS growth charts is no longer recommended. BMI should be obtained and plotted after the second birthday.

Skin

Note dry skin, cheilitis, evidence of skin infection, eczema, thickened skin on palms or soles, vitiligo and alopecia.

HEENT

Tonsillar hypertrophy may contribute to airway obstruction. Look for middle ear effusions, evidence of chronic sinus infection, or poor nasal flow suggesting adenoidal enlargement. Palpate for thyroid enlargement or nodules. Abnormal red reflex may indicate cataract. Assess extra-ocular movements, ocular alignment, pupil response, and presence of nystagmus. Look for evidence of nasolacrimal duct obstruction or chronic blepharitis.

Chest

Observe for signs of airway obstruction and or chronic lung disease.

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. Due to low tone, a protuberant abdomen is common.

Genitalia

Assess Tanner stage.

Extremities/Musculoskeletal

Observe for head tilt or limitations in neck range of motion that suggest AI instability. Monitor skeletal alignment as 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). Pes planus 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 periodic discussion of developmental progress and prognosis. Children with more extreme hypotonia may experience slower gross motor progress. Assess for signs of spinal cord injury (such as upper and lower track signs, increased reflexes, and clonus) routinely regardless of prior evaluations for AA instability.

Testing

Sensory Testing

Vision: Following a normal routine newborn examination, the AAP suggests consideration of referral to an ophthalmologist within the 6 months of life. Follow up with a pediatric ophthalmologist, or general ophthalmologist familiar with DS, should occur annually from 1 to 5, every 2 years from 6 to 13, and every three years from 14 to 21.

Hearing: AAP guidelines [Bull: 2011] suggest:
  • Hearing be tested by an objective method (e.g., otoacoustic emissions) at birth
  • Assessment by history at every well child visit
  • Assessment "by objective method" at 6 months, 12 months, and annually through age 21.
  • Attempt first behavioral audiogram by 1 year and insure assessment of ear specific hearing as soon as child is able.
  • Objective hearing assessment should also be considered whenever there is parental concern or evidence of persistent middle ear effusions.

Laboratory Testing

AAP screening guidelines recommend:
  • Thyroid stimulating hormone at newborn screen, 6 months, and annually
  • Celiac testing (e.g., TTG IgA and serum IgA) if any suggestive symptoms
  • Complete blood count with differential in the newborn period to screen for myeloproliferative disorder and polycythemia
  • Hemoglobin annually
  • Ferritin/CRP (or reticulocyte hemoglobin): annually if risk factor for iron deficiency or if hemoglobin less than 11

Imaging

  • 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. Echocardiographic screening has been recommended for ages 13-21 if "there is a history of increasing fatigue, shortness of breath, or exertional dyspnea or abnormal physical exam findings, such as a new murmur or gallop."
  • Consider a KUB in any newborn in a newborn with DS if there is concern for duodenal atresia (double bubble sign). Additional assessment with upper gastrointestinal series (upper GI) and/or barium enema should be considered to assess anatomy in infants with gastrointestinal symptoms.
  • An “unprepped” barium enema for any concern for Hirschsrung disease.
  • Neuroimaging is not routinely indicated, but should be considered in a child with macrocephaly or microcephaly beyond that typically observed in DS, a child whose development seems atypical for DS, any child with a change in neurologic functioning or developmental regression, and a child who has abnormalities on neurologic examination that can not be attributed to DS.

Genetic Testing

A karyotype performed on lymphocytes confirms the diagnosis and is important to clarify which of the chromosome abnormalities (parental nondisjunction of chromosome 21, translocation or mosaicism) is the cause. Studies are done on the parents only if there is a translocation present in the child. Prenatal diagnosis in future pregnancies, either with chorionic villous sampling at 10 weeks or amniocentesis at 15 weeks, is usually offered. Preimplantation testing is also available to screen blastomeres for aneuploidy and translocations, but the cost is substantial since this process requires in vitro fertilization and ICSI (intracytoplasmic sperm injection).

Other Testing

Sleep Study: If any symptoms of obstructive sleep apnea are noted, a sleep study should be obtained. Guidelines call for a sleep study by 4 years of age in all affected children.

Modified Barium Swallow (MBS): guidelines recommend evaluating for aspiration with a MBS in any infant with suggestive symptoms, including marked hypotonia, slow feeding, choking, recurrent/persistent respiratory symptoms, or failure to thrive.

Subspecialist Collaborations & Other Resources

Developmental Pediatrics (see Services below for relevant providers)

Particularly helpful to optimize development and to evaluate older children with behavioral or learning concerns.

Pediatric Cardiology (see Services below for relevant providers)

Depending upon sedation needs and the policies of the echo center, obtaining the recommended echocardiogram may require referral to a pediatric cardiologist. Children with cardiac lesions need long-term follow-up.

Audiology (see Services below for relevant providers)

If hearing screening is not provided by the early intervention program or school, referral to audiology will be needed. Children who fail screening or for whom the parents have concerns about hearing or auditory processing should be referred to audiology. Children with hearing impairment should be followed routinely.

Pediatric Ophthalmology (see Services below for relevant providers)

Guidelines recommend evaluation by an ophthalmologist by 6 months of age (sooner if the red reflex or another aspect of the eye examination is abnormal) and on an ongoing schedule.

Pediatric Gastroenterology (see Services below for relevant providers)

May be helpful in evaluating a child with vomiting, constipation, GERD, dysphagia, poor oral intake, chronic diarrhea, or suspected celiac disease.

Pediatric Genetics (see Services below for relevant providers)

May be helpful in diagnosis, evaluating recurrence risk and prenatal testing options (particularly in the case of translocation related DS), and counseling the family regarding etiology and outcomes.

Pediatric Neurology (see Services below for relevant providers)

May be indicated when a child has neurologic findings that are not commonly seen (e.g., tremor, nystagmus, severe hypotonia), atypical neurologic findings (e.g., spasticity, ataxia), relative microcephaly or macrocephaly, developmental delays beyond those typically seen, or any regression in development or neurologic function.

Treatment & Management

Overview

There is no treatment for the underlying genetic abnormality in Down syndrome (DS) – treatment focuses on the management of specific comorbid conditions as outlined above.

Systems

Cardiology

Congenital heart defects are found in 44% of infants with DS. See the Cardiology section under Comorbid Conditions in Down Syndrome, Clinical Assessment above for additional details.

Children with DS are more likely than other children with similar congenital heart defects to develop increased pulmonary vascular resistance. Fixed pulmonary vascular obstructive disease can be seen before the first birthday and may present as an apparent paradoxical improvement in cardiac symptoms. Because of this, optimal timing of surgical repair differ from that for similar cardiac lesions in children without DS. Signs of airway obstruction or symptoms of sleep apnea should trigger prompt re-evaluation by a cardiologist.

Children with DS and congenital heart disease should receive all routine childhood immunizations, particularly those protecting against Streptococcus pneumoniae and influenza viruses. Endocarditis prophylaxis prior to dental procedures may be indicated in some patients. See the Endocarditis Prophylaxis page for guidelines.

Valvular dysfunction is common in adults with DS (up to 50% in some studies) and may involve any of the valves, with mitral valve prolapse the most frequently observed. [Geggel: 1993]

Subspecialist Collaborations & Other Resources

Pediatric Cardiology (see Services below for relevant providers)

Important for those with congenital heart defects and those with pulmonary hypertension. All infants should have an echocardiogram.

Pediatric Sleep Medicine (see Services below for relevant providers)

To identify or manage a sleep disorder or sleep disordered breathing. A sleep study can help to identify the type (obstructive, central, or mixed) and severity of suspected sleep apnea, as well as other sleep disorders such as restless leg syndrome.

Nutrition/Growth/Bone

Nutritional monitoring/intervention is critical to prevent over/under nutrition and to promote self-feeding. See Nutrition under comorbid conditions for nutritional risk factors. Growth retardation is characteristic and begins during gestation. Growth should be plotted and followed on the same growth charts used for children without DS.

Some children will need significant support during the first few weeks of life to attain success with breast or bottle – these may include positioning, special nipples (higher flow), special feeding techniques (e.g., chin or jaw support), more frequent feeding, higher calorie formulas, or supplemental tube feedings. A speech therapist or occupational therapist can assess the child's suck and make recommendations regarding feeding technique.

Feeding therapy may also be important in the second half of infancy if a child has difficulty accepting new tastes or textures.

A referral for behavioral support may be important to help a family implement dietary changes for excessive weight gain or food seeking behaviors.

Consider prescribing a standard multivitamin to ensure adequate vitamin and mineral intake.

Consider thyroid dysfunction in children with inadequate linear growth. Growth hormone markers should be checked if the growth pattern is suggestive of growth hormone deficiency (e.g., failed linear growth despite good nutritional reserves).

Subspecialist Collaborations & Other Resources

Pediatric Gastroenterology (see Services below for relevant providers)

Helpful for persistent vomiting, constipation, GERD, dysphagia, poor oral intake, chronic diarrhea, or suspected celiac disease.

Nutrition/Dietary (see Services below for relevant providers)

Helpful in assessing nutritional status and adequacy of caloric intake, recommending special formulas and/or nutritional supplements, determining safety of nutritional supplements used for complementary therapy, and may guide the treatment of obesity.

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

May provide evaluation and intervention to optimize communication (verbal or using augmentative approaches) and cognitive abilities. In some communities, they take the role of feeding therapists. In some cases the speech and language pathologist who is evaluating the child through early intervention can evaluate the child's feeding skills.

Occupational Therapy (see Services below for relevant providers)

Can provide intervention focused on feeding, as well as the treatment of the oral sensory issues that may affect feeding, dietary choices, behavior, and function. In some cases, the occupational therapist who is evaluating the child through early intervention can evaluate the child's feeding skills.

Respiratory

Children with DS are predisposed to pulmonary conditions that can lead to recurrent acute illness and/or chronic lung disease. For more detail, see the Respiratory section under Comorbid Conditions in Down Syndrome, Clinical Assessment, above.

Management of chronic lung disease does not differ from that in patients without DS. The Asthma module provides helpful information on the diagnosis and treatment of asthma/chronic airway inflammation.

Consider an immunology evaluation and /or evaluation for gastro-esophageal reflux and/or oral aspiration in children with repeated pneumonias or other pyogenic infections or chronic lung disease.

Subspecialist Collaborations & Other Resources

Pediatric Cardiology (see Services below for relevant providers)

Important for children with congenital heart defects and those with pulmonary hypertension.

Pediatric Pulmonology (see Services below for relevant providers)

May be helpful for children with recurrent or persistent pulmonary symptoms, chronic lung disease, chronic respiratory symptoms, recurrent pneumonia, or acute compromise in breathing/air exchange.

Sleep

Sleep apnea occurs in up to 45% of children with DS and may be asymptomatic. See the Comorbid Condition section in Down Syndrome, Clinical Assessment, above, for a discussion of the factors contributing to sleep apnea and suggestive symptoms. Evaluation should include a sleep study (note: nap studies may be significantly less sensitive than overnight studies). The following may also be indicated:
  • Echocardiography if sleep study is positive, to evaluate for pulmonary hypertension
  • Chest radiography If a sleep study is indicative of obstructive sleep apnea, a chest x-ray may show cardiomegaly and/or chronic lung changes.
  • Hemoglobin – chronic hypoxia due to OSA may result in polycythemia.
  • Serum bicarbonate and/or early morning blood gas will help determine the extent of carbon dioxide retention.
  • Evaluation by a pulmonary and ENT specialist
  • Evaluation for gastro-esophageal reflux
Interventions may include:
  • Adenoidectomy and Tonsillectomy are successful in improving symptoms in a large percentage, although often symptoms do not completely resolve. [Bower: 1995]
    • Post-operative apnea is a frequent complication, suggesting a need for longer postoperative monitoring.
    • A subset of patients have incomplete resolution of sleep apnea after surgery – a follow-up sleep study should be considered approximately 6-8 weeks after surgery.
  • Treatment for chronic sinusitis or allergies may be helpful in the child with suggestive symptoms. [Brouillette: 2001]
  • The use of nighttime oxygen and/or continuous positive airway pressure (CPAP) may be recommended, particularly prior to adenoidectomy/tonsillectomy or if such surgery does not resolve symptoms. Note: Patients often do not tolerate these devices due to oral hypersensitivity. A desensitization program may be necessary.
  • Weight loss if obesity is present
  • Other surgical procedures may be indicated when the above have failed (e.g., uvulopalatoplasty, tongue reduction surgery, tracheostomy).

Subspecialist Collaborations & Other Resources

Pediatric Sleep Medicine (see Services below for relevant providers)

Helpful in diagnosing and managing a sleep disorder or sleep disordered breathing. A sleep study can help identify sleep apnea and its cause, as well as other sleep disorders such as restless leg syndrome.

Pediatric Otolaryngology (see Services below for relevant providers)

Indicated for children with documented or suspected obstructive sleep apnea due to enlarged tonsils, adenoids, or airway problems (e.g., laryngomalacia).

Pediatric Cardiology (see Services below for relevant providers)

Consider referral for children with significant sleep apnea and concern for pulmonary hypertension.

Hematology/Oncology

See information under comorbid conditions. Of particular importance is continued monitoring of the complete blood count for several years after resolution of a myeloproliferative disorder in the newborn period.

Gastro-Intestinal & Bowel Function

A number of serious GI anomalies occur with increased frequency in DS – see the Comorbid Conditions section of the Ongoing Assessment page for detail.
  • In the newborn period, significant vomiting or failure to pass meconium warrant immediate evaluation. The infant with significant chronic constipation should be evaluated for Hirschsprung's disease – the incidence is 25-fold higher in DS and there is high mortality associated with enterocolitis, particularly in those patients with cardiac malformations. [Ieiri: 2009]
  • The prevalence of celiac disease in individuals with DS is about 10% among US Caucasians (compared to 1/250 in the general population). In one study, abdominal bloating was the only symptom associated with a positive test for celiac disease. Up to 20% of individuals with DS and celiac disease have no overt clinical symptoms. [Book: 2001] See the Medical Hhome Portal's Celiac Disease for management details. Treatment includes: life-long dietary exclusion of wheat, rye, barley, and possibly oats; identification and treatment of complications (e.g., anemia, malnutrition); and possibly evaluation of family members.

Subspecialist Collaborations & Other Resources

Pediatric Gastroenterology (see Services below for relevant providers)

May assist in the evaluation/management of vomiting, constipation, GERD, dysphagia, poor oral intake, chronic diarrhea, or suspected celiac disease.

Neurology

See section on comorbid neurologic conditions (microcephaly, seizures, myelopathy). In addition special consideration should be given to the following two presentations: New onset of weakness is relatively common and has a broad differential diagnosis. [Worley: 2004] Urgent neurology consultation is indicated for new onset of focal weakness. Regression in function: Alzheimer-type dementia is not seen in pediatric or young adult patients with DS – patients with declining cognitive function should have a complete evaluation to exclude:
  • Hearing problems
  • Visual deficits
  • Thyroid disorders
  • Sleep problems (e.g., sleep apnea can contribute to impaired attention)
  • Impaired expressive communication
  • Education or occupational setting not appropriate for cognitive level or learning style
  • Emotional problems (e.g., depression, anxiety)
  • Auditory processing disorders
  • Boredom due to lack of recreation or social outlets
  • Traumatic injury (e.g., subdural hematoma)
  • Stroke (e.g., from Moyamoya)
  • Myelopathy from atanto-axial instability

Subspecialist Collaborations & Other Resources

Pediatric Neurology (see Services below for relevant providers)

Helpful in evaluating and managing concerning neurologic findings

Child Psychiatry (see Services below for relevant providers)

May be helpful, particularly in the evaluation of cognitive decline to exclude mental health concerns (e.g., depression) as a contributing factor

Developmental Pediatrics (see Services below for relevant providers)

May be helpful in evaluating unusual developmental patterns (e.g., associated autism) or cognitive decline.

Mental Health/Behavior

See the Comorbid Conditions for detail about dual diagnosis and evaluation (in Down Syndrome, Clinical Assessment).

No research has been published to guide use medications for ADHD/depression/anxiety in children with DS. Though response to medication is expected, individuals with neurodevelopmental disabilities may have idiosyncratic reactions to psychotropic medications. A patient may show a positive response at a relatively low dose, or may experience significant adverse effects at a minimal dose. Initiating treatment at a low dose (e.g., half of the starting dose for a neurotypical child) and gradual upward titration may help identify the appropriate dose for a patient while minimizing the potential for adverse effects. Recognize the lack of evidence upon which to base treatment and be cautious in watching for side effects and in framing expectations.

There has been limited study regarding interventions for autism spectrum disorders in DS. A small open label trial of risperidone in children with DS, autism, severe intellectual disability, and disruptive behaviors and self injury demonstrated the potential for benefit but cautioned that side-effects (weight gain, metabolic alterations) might limit long-term utility [Capone: 2008]. See Autism Spectrum Disorders, Treatment & Management for a discussion of behavioral and educational interventions used in the approach to ASD.

Subspecialist Collaborations & Other Resources

Child Psychology (see Services below for relevant providers)

Can provide standardized testing to help to better understand a child's neurocognitive profile (e.g., intelligence testing and autism-specific testing), provide behavioral guidance, and counseling/therapy. A psychologist with experience working with patients with dual diagnosis will be critical.

Developmental Evaluation (see Services below for relevant providers)

Often includes developmental pediatricians, neurologists, psychologists, speech and language pathologists, and occupational therapists; can document current functional abilities and make recommendations for intervention programming

Child Psychiatry (see Services below for relevant providers)

Particularly helpful for patients with dual diagnosis.

Behavioral Pediatrics (see Services below for relevant providers)

Can provide support in ensuring optimal health monitoring, identification of co-morbid conditions, assessing developmental progress and assuring optimal intervention services, and management of behavioral concerns.

Ears/Hearing

By adulthood, 60-80% of individuals with DS have hearing loss due to sensorineural, conductive, or combined causes. During early development, even minor hearing loss can negatively impact development of hearing, speech, and intellect. Auditory processing deficits may exist in some children. See Ears/Hearing section above under Co-morbid Conditions in Down Syndrome, Clinical Assessment, above, for details of hearing monitoring.

If a child is identified as having an auditory/hearing impairment, consider:
  • Full evaluation by an audiologist for diagnosis and family support
  • Referral to an otolaryngologist if the hearing loss is conductive
  • Evaluation to determine benefit from amplification (hearing aid, FM trainer etc.)
  • Evaluation by a speech and language therapist for program planning and family support
  • Notification of the child's teacher so that appropriate classroom modifications may be provided, such as:
    • limiting background noise in teaching environments
    • optimal positioning of child in the classroom
    • ensuring the child can always see the speaker's face
    • slowing the pace of verbally presented material
    • checking in with the child to verify understanding
    • increased use of visual materials in the classroom
  • Local programs for the hearing impaired should be contacted to advise the child's school, teacher, and family
  • Vision should be evaluated to ensure there is no additional sensory deficit

Once a hearing impairment is identified, continued monitoring of hearing and vision are indicated to identify any changes over time. See Hearing and Vision Loss Associated with Down Syndrome for a family-focused overview from the Texas School for the Blind and Visually Impaired. Also in Spanish – Hearing and Vision Loss Associated with Down Syndrome (Spanish version).

Subspecialist Collaborations & Other Resources

Audiology (see Services below for relevant providers)

Can provide hearing screening, monitor hearing status, evaluate for and adjust amplification, and help families identify intervention services and adaptations.

Pediatric Otolaryngology (see Services below for relevant providers)

Consider referral for recurrent otitis media and/or conductive hearing loss, or if unable to visualize the ear drum or monitor for effusion. May also be indicated for obstructive sleep apnea or recurrent sinus infection.

Eyes/Vision

Individuals with DS are at risk for a number of ocular abnormalities as outlined in the Down Syndrome, Clinical Assessment Comorbid Conditions section. Monitoring vision is key to prevent secondary, preventable/treatable disability. Management of visual impairment may be complicated by the child's ability to tolerate glasses, patching, or other intervention.

Subspecialist Collaborations & Other Resources

Pediatric Ophthalmology (see Services below for relevant providers)

Referral recommended by 6 months of age (sooner if eye examination is abnormal).

Schools for the Deaf & Blind (see Services below for relevant providers)

May offer a specialized classroom settings or consultation with a classroom teacher regarding modifications to aid the child with visual impairment. Many programs for the visually impaired have infant and parent education programs.

Dental

Children and young adults with DS are at risk for multiple oral and dental disorders, as outlined in the Down SyndromeComorbid Conditions section.

To assist in the prevention and early detection of dental disorders and associated complications, the primary care provider should:
  • Encourage routine dental care. Families may need support in identifying a provider and/or advocating for funding. Dental check-ups are recommended by age 1 year and then every 6 months. If indicated, facilitate care by offering the dental care provider relevant information about DS.
  • Ensure that families and dental care providers are aware of medical issues that may affect care (e.g., need for bacterial prophylaxis, sedation risks).
  • Monitor general oral hygiene and dental health and discuss issues with families as they arise. If signs of periodontal disease are evident, refer as soon as possible.
  • Help the child/teen/family manage halitosis, which may significantly affect social inclusion. Simple interventions, such as tongue brushing, mouth washes, breath fresheners, and better dental hygiene may help. Medical issues that can cause halitosis include chronic sinusitis, gastro-esophageal reflux, drooling, and periodontal disease.
A helpful handout for parents: Dental Care for the Patient with Down Syndrome

Subspecialist Collaborations & Other Resources

General Dentistry for Children (see Services below for relevant providers)

It is important that a dentist has previously worked with children with special health care needs and is equipped to provide safe sedation for procedures as necessary.

Pediatric Dentistry (see Services below for relevant providers)

May be more comfortable with children with developmental delays. Referral to special centers may be necessary if a child requires sedation for dental treatment, particularly if the child's medical status places them at increased risk for complications of sedation.

Orthodontics (see Services below for relevant providers)

Patients with missing/malformed teeth, dental crowding, malalignment, or malocclusion should be referred to an orthodontist familiar with treating these issues in patients with DS.

Dental Care, Assistance (see Services below for relevant providers)

Funding is often a barrier to optimal dental care. Some programs offer assistance with dental funding.

Endocrine/Metabolism

Thyroid Disorders – both congenital and autoimmune hypothyroidism occur with increased frequency in DS. Management of hypothyroidism does not differ from that in individuals without DS. [American: 2001] [Unachak: 2008] [Rose: 2006]

Subspecialist Collaborations & Other Resources

Pediatric Endocrinology (see Services below for relevant providers)

May be helpful in diagnosis and management of thyroid dysfunction or other hormonal disorders.

Immunology/Infectious Disease

Individuals with DS are at risk for autoimmune disorders as outlined under Down Syndrome, Clinical Assessment Comorbid Conditions. Management of autoimmune disorders does not differ from that in individuals without DS.

Subspecialist Collaborations & Other Resources

Pediatric Endocrinology (see Services below for relevant providers)

May be helpful in optimizing management of thyroid or other hormonal disorders, including auto-immune adrenalitis and diabetes mellitus.

Pediatric Dermatology (see Services below for relevant providers)

Should be knowledgeable about the latest treatments for vitiligo and alopecia areata.

Pediatric Gastroenterology (see Services below for relevant providers)

Can evaluate for celiac disease if blood screening tests are positive and help to diagnosis and treat autoimmune hepatobiliary disease.

Pediatric Immunology/Rheumatology (see Services below for relevant providers)

Can evaluate children with arthritic symptoms and diagnose and treat conditions such as juvenile idiopathic arthritis and lupus.

Musculoskeletal

Orthopedic Issues – individuals with DS are at risk for primary anatomic skeletal differences as well as complications of hypotonia, ligament laxity, and increased joint flexibility. See Down Syndrome, Clinical Assessment, Comorbid Conditions section for details. The impact of musculoskeletal disorders upon disability has increased with increased life expectancy. Regular exercise and weight control should be emphasized to reduce the risk of degenerative musculoskeletal disease. [Mik: 2008] Some authors suggest yearly monitoring by an orthopedic surgeon for prompt identification and management of musculoskeletal disorders that may limit function. [Caird: 2006]

Subspecialist Collaborations & Other Resources

Pediatric Orthopedics (see Services below for relevant providers)

Can monitor the musculoskeletal exam of children at risk, evaluate and optimize gait, and provide management options for identified musculoskeletal problems.

Bone Densitometry/DEXA (see Services below for relevant providers)

Can be used to evaluate for osteopenia however children must be scanned in a facility that maintains normative pediatric data.

Pediatric Endocrinology (see Services below for relevant providers)

Can evaluate for the underlying causes of osteopenia or osteoporosis

Pediatric Neurosurgery (see Services below for relevant providers)

Referral may be indicated if cervico-spinal instability is identified on screening x-rays or by symptoms.

Skin & Appearance

Dermatologic Issues – individuals with DS are at risk for a number of dermatologic conditions. See the Down Syndrome, Clinical Assessment, Comorbid Conditions section for details of these conditions.
  • Patients with alopecia areata and/or vitiligo should be evaluated for other autoimmune conditions, including thyroid disorders and celiac disease. Therapies may be helpful (e.g., topical and intralesional steroids), though individual response varies and there is a high rate of spontaneous remission and relapse. Psychosocial support, coping mechanisms, and peer education may be important. See National Alopecia Areata Foundation: National Alopecia Foundation.
  • Angular cheilosis may be treated with a mild steroid cream unless fungal or bacterial super-infection is suspected.
  • Syringomas may be removed with laser treatments if indicated.
  • A dermatologic consult should be consider if atopic dermatitis, dry skin or xerosis is resistant to treatment (which is often the case).

Subspecialist Collaborations & Other Resources

Pediatric Dermatology (see Services below for relevant providers)

Helpful in managing vitiligo, alopecia, chronic dry skin, and eczema refractory to treatment.

Pediatric Infectious Disease (see Services below for relevant providers)

Helpful for chronic, severe, or recurrent skin infections such as folliculitis, angular chelosis, and Norwegian scabies.

Genito-Urinary

Individuals with DS are at risk for multiple renal and collecting system abnormalities as outlined in the Down Syndrome, Clinical Assessment, Comorbid Conditions section. Treatment of urologic conditions is based upon the malformation present and should be guided by a pediatric urologist.

Subspecialist Collaborations & Other Resources

Pediatric Urology (see Services below for relevant providers)

Helpful for patients with urinary tract abnormalities or those with persistent unexplained urinary symptoms.

Maturation/Sexual/Reproductive

Sexuality Issues - SexualHealth.com provides information and resources regarding sexual dysfunction for individuals with disability or chronic health conditions. (Editors Note: A good information resource but not a web site for children.) Issues of Sexuality in Down Syndrome discusses:
  • Masturbation
  • The high risks of sexual abuse
  • Dating and marriage
  • Reproduction including family planning and pregnancy outcomes
  • Sexually transmitted diseases
  • Individuals with DS as parents
  • Fertility

Subspecialist Collaborations & Other Resources

Pediatric Urology (see Services below for relevant providers)

A urologist may aid in the evaluation of sexual dysfunction (e.g., impotence).

Gynecology (Ped/Adol, Special Needs) (see Services below for relevant providers)

A gynecologist with expertise in pediatric/adolescent issues can provide family planning guidance and, when indicated/desired, menstrual suppression management.

Development/Motor

Optimizing Motor Function – many children with DS have delayed gross motor development secondary to hypotonia, ligamentous laxity, decreased muscle strength, and altered body proportions (shorter arms and legs). Physical therapy is important for young children with DS to provide programs for strengthening and to prevent the child from using compensatory motor patterns that will be detrimental in the long run. Common issues in children who do not receive adequate physical therapy include:
  • Standing and walking with their hips in external rotation, knees stiff, and feet flat and turned out
  • Sitting with their trunk rounded and pelvis tilted back
  • Standing with a lordosis

Before age three, physical therapy is usually available through an early intervention program and the focus will be teaching parents to work with the child in the home. An additional benefit will be the ongoing education about their child's abilities and how best to work with him or her. For older children, a physical therapist may design an exercise program to prevent deconditioning and/or obesity. At school, physical therapy may design adapted physical education programs. See Adapted Athletic Programs (general).

Subspecialist Collaborations & Other Resources

Physical Therapy (see Services below for relevant providers)

Helpful in designing/implementing programs in the home and at school for strength, coordination, and conditioning.

Adaptive Recreation (see Services below for relevant providers)

Allows individuals with disabilities to participate in sports and recreational programs with support and adaptation of environment and equipment.

Early Intervention Programs (see Services below for relevant providers)

For children under 3 years. When there is an associated fee, private services funded through health insurance may cost less.

Public Schools (see Services below for relevant providers)

For children above age 3 years, PT services are provided to support mobility in the classroom and education-related goals, but not for medical goals (e.g., to enhance range of motion).

Development/Language

Oral motor/Oral aversions/Speech and Language Issues – all children with DS have language deficits and will benefit from early referral for speech and language therapy. Most children will require language support throughout their education. Common concerns include:
  • Communication Needs – expressive language usually lags significantly behind receptive abilities. Intervention to provide appropriate stimuli and a bridge to verbal communication (though the use of an alternative communication method) is extremely important.
  • Sensory Integration Concerns – many children are sensitive to touch, manipulation, and textures in and around their mouth and other parts of their body. Sensory issues may affect oral motor skills, the ability of the parents to care for the child (e.g., dental and facial hygiene, feeding), and the willingness/ability of the child to eat a variety of tastes and textures. Sensory integration issues may be important in expressive communication, since producing communicative responses requires processing and integrating sensory input.
  • Oral Motor Impairments – intervention for oral motor impairments may be critical during early development to facilitate adequate feeding. Subsequent interventions may be important to facilitate advancement in textures, improve drooling, and to develop expressive language.
  • Verbal Apraxia
  • Cognitive Concerns – varying deficits in remembering and understanding sequences.
  • Auditory Issues – risk for hearing impairment and auditory processing disorders.
  • An array of speech disorders (dysfluency and articulation disorders).
  • Austim Spectrum Disorder

The primary care clinician can help by:
  • Referring promptly to early intervention service providers
  • Ensuring appropriate hearing screening throughout childhood
  • Helping families understand the role of alternative communication methods. While 95% of children with DS will ultimately use verbal language, language acquisition is universally delayed. Alternative communication methods can help until this occurs and does not retard verbal language development. As soon as the child is able to produce words with efficiency, the child will prefer verbal communication.
  • Working with the family around behavioral issues that emerge due to limited communication and sensory aversions
  • Assisting in finding alternative supports when the early intervention or educational system is unable to meet the child's needs. Funding though private insurance, Medicaid, or other community programs may be available. Private referral may be appropriate for less “educational” goals (e.g., to work on a feeding disorder, drooling or oral aversion), since school-based services must relate to educational goals.

Subspecialist Collaborations & Other Resources

Developmental Pediatrics (see Services below for relevant providers)

May be helpful to distinguish developmental from medical issues, guide referral or therapy, and to monitor progress.

Developmental Evaluation (see Services below for relevant providers)

May include developmental pediatricians, neurologists, psychologists, speech and language pathologists, and occupational therapists. Can document current functional abilities and recommend optimal intervention programming.

Audiology (see Services below for relevant providers)

Can provide hearing screening, monitor hearing status, evaluate for and adjust amplification, and help families identify appropriate intervention services and adaptations.

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

Can provide evaluation and intervention to optimize communication (verbal or using augmentative approaches) and cognitive abilities.

Early Intervention Programs (see Services below for relevant providers)

Helpful from birth to age three. When there is a fee, private services funded through health insurance may cost less.

Public Schools (see Services below for relevant providers)

Above age 3 years, most children with DS will qualify for services through the special education program offered by their local school district.

Frequently Asked Questions

These frequently asked questions are adapted from Down Syndrome Frequently Asked Questions.

IS DOWN SYNDROME INHERITED?

Only 3 to 5% of cases are inherited; the rest arise as an accident of chromosome arrangement after conception and during early cell division (meiosis). In 90% of cases, trisomy 21 is due to nondisjunction of the maternal chromosome; in 10% of cases it is due to nondisjunction of the paternal chromosome

IF MATERNAL AGE OVER 35 YEARS IS A RISK FACTOR FOR HAVING BABIES WITH DS, WHY ARE MORE THAN HALF OF ALL BABIES WITH DS BORN TO WOMEN UNDER 35 YEARS?

While it is much more common for women over 35 years of age to have a baby with DS, women under 35 have many more babies so, despite the lower risk, a higher number will have DS. No risk factors have been found yet for women under 35 years of age, but several research groups are looking at this question.

HOW LIKELY IS A PERSON TO HAVE A CHILD WITH DOWN SYNDROME IF HE/SHE HAS A SIBLING WITH DS?

For the vast majority of people, having a sibling with DS does not increase one's risk of having a child with DS. That's because 95% of all cases of DS are not inherited. The chromosomal test on the person with DS will show how likely it is to be an inherited case.

Issues Related to Down Syndrome

Recreation & Leisure

Adapted Athletic Programs

Resources

Information for Clinicians

Committee on Genetics, American Academy of Pediatrics
Committee on Genetics studies and makes recommendations to the Board of Directors on recent advances in genetics and provides support to chapters on state legislative issues as they relate to genetics.

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."

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.

Clinical Tools

Clinical Checklists & Visit Tools

Down Syndrome Checklist (2013)(PDF Document 125 KB)
A checklist for recommended monitoring and screening of children with Down syndrome. Included in appendix 1 of the AAP Trisomy 21 treatment guidelines.

Patient Education & Instructions

Children with Down Syndrome: Health Care Information for Families (AAP)
Guide to help parents and families of children with Down syndrome. Focuses on medical topics, by age, that affect physical health. PDF downloads available; American Academy of Pediatrics (AAP).

A Parent's Guide on Puberty for Boys [for Girls] with Disabilities(PDF Document 7 KB)
A toolkit for parents to use as they choose, this publication was developed and written by Vanderbilt Leadership Education in Neurodevelopmental Disabilities (LEND) long-term trainees.

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.

Down Syndrome (Genetic Science Learning Center)
A brief educational overview of the genetics of Down syndrome from the Genetic Science Learning Center at the University of Utah.

Information & Support for Families

Family Diagnosis Page

Information on the Web

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

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.

Down Syndrome Resources: Washington State
The Center for Children with Special Needs provides various resources for specific conditions, including Down Syndrome.

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.

Support National & Local

Down Syndrome resources
Resource and information page for Down Syndrome from Family Village.

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.

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.

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.

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. The Center provides information on support and advocacy for families of children with special health care needs.

Studies/Registries

Clinical Trials in Children with Down Syndrome (clinicaltrials.gov)

DS-Connect: The Down Syndrome Registry (NIH)
Developed by the Down Syndrome Consortium, led by the National Institutes of Health and involving several Down syndrome advocacy and professional organizations, to offer opportunities for patients/families and researchers to connect and to allow access to research data by families.

Services for Patients & Families

Adaptive Recreation

See all Adaptive Recreation services providers (39) in our database.

Audiology

See all Audiology services providers (62) in our database.

Behavioral Pediatrics

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

Bone Densitometry/DEXA

See all Bone Densitometry/DEXA services providers (4) in our database.

Child Psychiatry

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

Child Psychology

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

Dental Care, Assistance

See all Dental Care, Assistance services providers (6) in our database.

Developmental Evaluation

See all Developmental Evaluation services providers (37) in our database.

Developmental Pediatrics

We currently have no Developmental Pediatrics service providers listed; search our Services database for related services.

Early Intervention Programs

See all Early Intervention Programs services providers (44) in our database.

General Dentistry for Children

See all General Dentistry for Children services providers (146) in our database.

Gynecology (Ped/Adol, Special Needs)

See all Gynecology (Ped/Adol, Special Needs) services providers (22) in our database.

Nutrition/Dietary

See all Nutrition/Dietary services providers (55) in our database.

Occupational Therapy

See all Occupational Therapy services providers (29) in our database.

Orthodontics

See all Orthodontics services providers (20) in our database.

Pediatric Cardiology

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

Pediatric Dentistry

See all Pediatric Dentistry services providers (44) in our database.

Pediatric Dermatology

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

Pediatric Endocrinology

See all Pediatric Endocrinology services providers (5) 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 Immunology/Rheumatology

See all Pediatric Immunology/Rheumatology services providers (5) in our database.

Pediatric Infectious Disease

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

Pediatric Neurology

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

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 Orthopedics

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

Pediatric Otolaryngology

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

Pediatric Pulmonology

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

Pediatric Sleep Medicine

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

Pediatric Urology

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

Physical Therapy

See all Physical Therapy services providers (49) in our database.

Public Schools

See all Public Schools services providers (12) in our database.

Schools for the Deaf & Blind

See all Schools for the Deaf & Blind services providers (10) in our database.

Speech/Language Therapy

See all Speech/Language Therapy services providers (42) in our database.

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

Authors

Author: Lisa Samson-Fang, MD - 6/2013
Content Last Updated: 7/2013

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of particular relevance perhaps in Utah.

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There has been a considerable improvement in survival of infants born with Down’s syndrome in Western Australia. This improvement is similar to findings in recent international studies. The difference in survival between Aboriginal and non-Aboriginal children is particularly disturbing. These findings are useful for both clinicians and families who need to plan for the long-term care of these children.

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