Down Syndrome - Treatment & Management

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. Management will vary based on the lesion and should be guided by a pediatric cardiologist.

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, timing of surgical repair may be different than 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. Consider endocarditis prophylaxis prior to dental procedures in those at high risk. See the Endocarditis Prophylaxis page for guidelines.

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

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Nutrition
Early nutritional intervention is critical in infants with DS to prevent over/under nutrition and to promote self-feeding. Growth retardation is characteristic and begins during gestation. Growth should be plotted and followed on a DS specific growth chart (see Tools below). Because these charts were developed using a small population, some of whom had significant health issues, their reliability is limited.

• Newborns with DS are at increased risk for feeding problems due to a weak suck and problems related to any organ malformations (e.g., heart defects, duodenal atresia, Hirschsprung's disease). Mothers who breast feed the child with DS are often successful. [Aumonier: 1983] Some children with DS 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.
• Older infants often have persistent tongue thrust which may delay the introduction of solids. Oral aversions are also common. Self-feeding skills are often delayed due to generalized hypotonia. Feeding therapy may be indicated to assist with these issues.
• The older child with DS is at risk for excessive weight gain. [Grammatikopoulou: 2008]
• Celiac disease, chronic constipation, and diabetes present unique nutritional needs.
• Consider prescribing a standard multivitamin to ensure adequate vitamin and mineral intake.
• Children with DS who have inadequate linear growth should have thyroid levels measured. 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).

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Chronic Lung Disease
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 Comorbid Conditions section of the Ongoing Assessment page.

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.

Also, be aware of Down Syndrome and High Altitude Pulmonary Edema

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Sleep apnea occurs in up to 45% of children with DS and may be asymptomatic. See the Comorbid Condition section of the Ongoing Assessment page for a discussion of the factors contributing to sleep apnea and suggestive symptoms.

Evaluation of individuals with suspected sleep apnea includes 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 are not completely resolved. [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).

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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 the 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] See the Hirschsprung Disease module for more detail.

• 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 also the Celiac Disease module. 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.

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New onset of weakness is relatively common and has a broad differential diagnosis. [Worley: 2004] Urgent neurology consultation is indicated for new onset focal weakness.

Dementia

Alzheimer-type neuropathologic abnormalities are seen in DS, with and without dementia. More than half of those above 50 years develop Alzheimer's disease (AD). Many conditions, however, mimic the neurologic changes seen in dementia – 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)

Alzheimer-type dementia is not seen in pediatric or young adult patients with DS.

Seizures

While not traditionally included among common medical concerns, up to 8% of children with DS have seizures. Seizure types include generalized tonic-clonic seizures, partial seizures, and infantile spasms. About 13% of children with DS but without clinical seizures have EEG abnormalities. See [Goldberg-Stern: 2001], [Stafstrom: 1994], and Down Syndrome and Epilepsy.

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See the Comorbid Conditions section of the Ongoing Assessment page for detail about dual diagnosis and evaluation of Attention Deficit Hyperactive Disorder. No research has been published to guide use of stimulants or other medications for ADHD in children with DS. While children with DS and symptoms of ADHD respond to stimulant medication, individuals with neurodevelopmental disabilities may experience 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 (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.

Autism spectrum disorders (ASD) have been documented in 5-10% of children with DS. Identification of autism may be important in determining the best approaches to intervention and education. DS is also associated with an increased prevalence of Childhood Disintegration Disorder (late-onset autism). [Capone: 2005] See the Comorbid Conditions section of the Ongoing Assessment page for detail on evaluation.

There has been limited study regarding interventions for ASD 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 utility over the long-term [Capone: 2008]. See Autism Spectrum Disorders, Treatment & Management for a discussion of behavioral and educational interventions used in the approach to ASD.

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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 affect word perception, short term auditory memory, and sequential auditory memory. If the family or teacher suspect auditory processing difficulties, consider evaluation. If a child is identified as having an auditory/hearing impairment, the following should be 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).

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Individuals with DS are at risk for a number of ocular abnormalities as outlined in the Comorbid Conditions section of the Ongoing Assessment page. 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.

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Children and young adults with DS are at risk for multiple oral and dental disorders, as outlined in the Comorbid Conditions section of the Ongoing Assessment page.
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 with relevant information about DS through the family.
• Ensure that families and dental care providers are aware of medical issues that may impact care (e.g., need for bacterial prophylaxis, sedation risks).
• Monitor general oral hygiene and dental health at well child visits and discuss issues with families as they arise. If signs of periodontal disease are evident, refer the adolescent to a dental provider as soon as possible.
• Help the child/teen/family manage halitosis, which may significantly impact societal inclusion. Simple interventions, such as tongue brushing, mouth washes, breath fresheners, and better dental hygiene may help. Medical issues which 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

• Consider screening for acquired valvular dysfunction which can occur in young adults with DS, since this may result in a need for bacterial prophylaxis prior to dental procedures. Some authors suggest a screening echocardiogram during adolescence [Geggel: 1993], which may be particularly important if the adolescent has periodontal disease or will be having a dental procedure.

• The Endocarditis Prophylaxis page provides guidelines for bacterial endocarditis prophylaxis.

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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]

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Individuals with DS are at risk for autoimmune disorders involving multiple organ systems as outlined in the Comorbid Conditions section of the Ongoing Assessment page. Management of autoimmune disorders does not differ from that in individuals without DS.

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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 the Comorbid Conditions section of the Ongoing Assessment page for details of evaluation. 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].

See the Comorbid Conditions section of the Ongoing Assessment page for details on evaluation for Atlanto-axial instability (AAI). For management, see

• Down syndrome and cranio-vertebral instability. Topic review and treatment recommendations. [Brockmeyer: 1999]
• Parent Handout on AI. Altaoaxial Instability Parent Handout

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Dermatologic Issues – individuals with DS are at risk for a number of dermatologic conditions. See the Comorbid Conditions section of the Ongoing Assessment page for further discussion.

• 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 chelosis 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 cosmetically.

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Individuals with DS are at risk for multiple renal and collecting system abnormalities as outlined in the Comorbid Conditions section of the Ongoing Assessment page. While not part of the AAP guidelines, some experts recommend a screening renal ultrasound in infancy. Treatment of urologic conditions is based upon the malformation present and should be guided by a pediatric urologist.

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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

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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 to teach the parent 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).

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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 impact 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 also 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.
• Cognitive Concerns – varying deficits in remembering and understanding sequences.
• Auditory Issues – individuals with DS are at risk for hearing impairment and auditory processing disorders.
• An array of speech disorders (dysfluency and articulation disorders).

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.

Speech and language treatment for children with Down syndrome (DS-Health.com) is written for parents and professionals and provides a good summary of common issues. It outlines speech and language programs for children of varying age groups and specific interventions that may be useful.

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Specific Alternative Treatments for Down Syndrome

A number of summaries about specific treatments are available:

• Piracetam and Down syndrome (DS-Health.com)
• Nutritional Supplements for Down Syndrome (QuackWatch.org)
• Amino Acid Profiles (DS-Health.com)
• Plastic Surgery in Children with Down Syndrome (DS-Health.com)
• DMSO and Down Syndrome (DS-Health.com)
• Cell Therapy and Down Syndrome (DS-Health.com)
• Interferon and Down Syndrome (DS-Health.com)
• Down Syndrome and Growth Hormone (DS-Health.com)

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

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.

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