Approach Considerations
Physicians and parents should be aware of the range of psychomotor potential so that early intervention, schooling, and community placement are provided.
Despite continued work, no notable medical treatments for intellectual disability associated with Down syndrome have been forthcoming. However, the dramatic improvements in medical care described below have greatly improved the quality of life for patients and increased their life expectancy. [100]
Usual immunizations and well-child care should be performed as the American Academy of Pediatrics recommends. Associated conditions should be monitored periodically as the child grows older.
Surgical management of associated conditions should be provided as appropriate. Down syndrome alone does not adversely affect surgical outcomes in the absence of pulmonary hypertension. Because of potential atlanto-occipital instability, care should be taken when sedation and airway management are considered for procedures or for consideration of sports participation.
Further outpatient care may include the following:
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Audiologic evaluation for hearing loss
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Apnea monitoring
Regular screening is necessary for institutionalized older adults to diagnose early onset dementia, epilepsy, hypothyroidism, and early loss of visual acuity and hearing.
Surgical Care
Timely surgical treatment of cardiac anomalies, detected during the newborn period or early infancy, may be necessary to prevent serious complications and is crucial for optimal survival.
Prompt surgical repair is necessary for GI anomalies, most commonly duodenal atresia and Hirschsprung disease. Other GI anomalies include tracheoesophageal fistula, pyloric stenosis, annular pancreas, aganglionic megacolon, and imperforate anus.
Surgical intervention may be necessary to reduce atlantoaxial subluxation and to stabilize the upper segment of the cervical spine if neurologic deficits are clinically significant.
Congenital cataracts occur in about 3% of children and must be extracted soon after birth to allow light to reach the retina. Afterward, appropriate correction with glasses or contact lenses helps to ensure adequate vision.
Surgical intervention in children with Down syndrome has a high risk of complications, particularly infection and wound healing problems. [69] Careful anesthetic airway management is needed because of the associated risk of cervical spine instability. Preoperative evaluation for anesthesia must include adequate evaluation of the airway and the patient’s neurologic status. Cervical radiography (with flexion and extension views) should be performed when any neurologic deficit suggests spinal-cord compression.
During laryngoscopy and intubation, the patient’s head should be maintained in a neutral position, and hyperextension should be avoided. Anticholinergics can be prescribed to control hypersecretion in the airways. Other airway complications include subglottic stenosis and obstructive apnea, which may result from a relatively large tongue, enlarged adenoids, and midfacial hypoplasia. Adenotonsillectomy may be performed to manage obstructive sleep apnea.
Diet and Activity
No special diet is required, unless celiac disease is present. A balanced diet and regular exercise are needed to maintain appropriate weight. Feeding problems and failure to thrive usually improve after cardiac surgery.
No restriction of activities is necessary. Parents should be counseled about sports with increased risk of spinal injury, such as football, soccer, and gymnastics. Advise the patient to exercise to maintain an appropriate weight. Patients with symptoms of arrhythmia, episodes of fainting, abnormal findings on electrocardiography (ECG), and palpitations or chest pain should refrain from participating in sports and strenuous exercise. Children with C1-C2 instability or subluxation may require specific preclearance to compete in the Special Olympics. [101]
A study by Diaz reported that US children with Down syndrome tend to engage less in regular physical activity than do other children, including children without disabilities and those with other developmental disabilities/special health-care needs. This indicated that interventions/programs promoting physical activity in children with Down syndrome are needed. [102]
Consultations
Consultations with the following may be indicated:
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Clinical geneticist - Referral to a genetics counseling program is highly desirable
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Developmental pediatrician
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Cardiologist - Early cardiologic evaluation is crucial for diagnosing and treating congenital heart defects, which occur in up to 50% of these patients
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Pediatric pulmonologist - Recurrent respiratory tract infections are common in patients with Down syndrome
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Ophthalmologist [64]
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Dentist
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Neurologist/neurosurgeon – As many as 10% of patients with Down syndrome have epilepsy; therefore, neurologic evaluation may be needed; patients with atlantoaxial instability may need to be evaluated by a neurosurgeon
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Orthopedic specialist
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Child psychiatrist - A child psychiatrist should lead liaison interventions, family therapies, and psychometric evaluations
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Physical and occupational therapist
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Speech-language pathologist
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Audiologist
Genetic Counseling
Trisomy 21
A previous history of trisomy can increase a woman’s risk for a recurrence. [103] If the couple has a child with trisomy 21, the risk of recurrence is about 1%. [104] The risk does not appear to be increased in siblings of affected individuals if it is confirmed to not be a translocation but rather full trisomy 21.
Translocation
The recurrence risk depends on the type of translocation. In most cases, the recurrence risk for de novo translocations is similar to that of the general population but may be slightly higher in some situations; it is estimated to be 2-3%. [105]
In any trisomy 21 patient with a translocation, karyotype testing must be recommended to both parents to look for a translocation. If a translocation is found in one of the parents, the recurrence risk is significantly higher, and further genetic counseling is crucial.
The theoretic recurrence risk for a Robertsonian carrier parent to have a liveborn offspring with Down syndrome is 1 in 3. However, only 10-15% of the progeny of carrier mothers and only 2-3% of the progeny of carrier fathers have Down syndrome. The reason for this difference is not clear. In a carrier parent with a 21q21q translocation or isochromosome, the recurrence risk is 100%.
Mosaicism
Most patients with mosaic Down syndrome were once trisomy 21 zygotes. The phenotype varies and possibly reflects the variable proportion of trisomy 21 cells in the embryo during early development. In rare instances, low-level mosaicism in the germinal tissue of a parent is postulated to be the cause of having more than one trisomic child in a family. Many geneticists believe that all full trisomy 21 patients are mosaic at some level.
Reproduction
Affected individuals rarely reproduce. About 15-30% of females with trisomy 21 are fertile and have up to a 50% risk of having child also affected with trisomy 21. Infertility in males has been attributed to defective spermatogenesis, but ignorance of the sexual act may be one of the contributing factors.
Pharmacologic Therapy and Supportive Care
The standard immunizations and well-child care should be provided. In addition, specific manifestations of the syndrome and associated conditions must be addressed, as follows:
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Give thyroid hormone for hypothyroidism to prevent intellectual deterioration and to improve the individual’s overall function, academic achievement, and vocational abilities
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Give digitalis and diuretics as necessary for cardiac management
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Provide prompt treatment of respiratory tract infections and otitis media
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Consider pneumococcal and influenza vaccination for children with chronic cardiac and respiratory disease; consider prophylactic palivizumab, since infants with Down syndrome are at high risk for hospitalization with respiratory syncytial virus [106]
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Administer anticonvulsants for tonic-clonic seizures or for infantile spasms (treat with steroids)
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Provide pharmacologic agents, psychotherapy, or behavioral therapy for psychiatric disorders
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Treat skin disorders with weight reduction, proper hygiene, frequent baths, application of antibiotic ointment, or systemic antibiotic therapy
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Prevent dental caries and periodontal disease through appropriate dental hygiene, fluoride treatments, good dietary habits, and restorative care
There are specific guidelines on when prophylaxis for subacute bacterial endocarditis is necessary and, unless there is a valve replacement or other clear reason, children with trisomy 21 are not routinely recommended to receive it.
Early intervention programs are promising. Programs for infants aged 0-3 years are designed to monitor and enrich their development by focusing on feeding, as well as gross and fine motor, language, personal, and social development. Early intervention techniques may improve the patient’s social quotient. Overall, positive developmental changes are observed in children with Down syndrome, particularly in terms of their independence, community functioning, and quality of life.
A literature review by Sugimoto et al indicated that neuromuscular training can improve strength in children and young adults with Down syndrome. The study found that such training can have a moderate to large impact on general strength, as well as a small to moderate effect on maximal strength. Only a small impact on functional mobility tasks was reported. [107]
Megadoses of vitamins and minerals supplemented with zinc or selenium have not been found beneficial in a number of well-controlled scientific studies.
Children with Down syndrome and leukemia are more sensitive to some chemotherapeutic agents (eg, methotrexate) than other children. Thus, they require careful monitoring for toxicity.
Special Considerations in Adolescents
In adolescents and young adults with Down syndrome, the following monitoring measures are indicated [2] :
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Perform annual audiologic evaluation
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Perform ophthalmologic evaluations every 3 years for keratoconus or corneal opacities or cataracts
Manifestations of the syndrome and associated conditions must be evaluated and addressed on an ongoing basis, as follows:
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Treat dermatologic issues, such as folliculitis, xerosis, atopic dermatitis, seborrheic dermatitis, fungal infections of skin and nails, vitiligo, and alopecia
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Prevent obesity by decreasing the patient’s caloric intake and increasing activity (social and leisure)
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Screen for celiac disease (symptoms such as constipation, diarrhea, bloating, poor growth, or weight loss), and treat the patient with a gluten-free diet
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Address any swallowing difficulties that persist through the adolescent years
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Provide antibiotic prophylaxis during dental and surgical procedures in the presence of mitral valve prolapse
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Consider bone marrow transplantation if leukemia occurs
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Discuss sleep apnea, treat airway obstruction medically and surgically.
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Pay special attention to perioperative modalities because of atlantoaxial instability and problems with the respiratory system
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Screen for hypothyroidism and diabetes mellitus
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Manage neurologic problems, including mental retardation, hypotonia, seizures, and strokes
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Continue speech and language therapy, with a focus on expressive language and intelligibility
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Evaluate and treat behavioral problems, such as disruptive behavior disorders, stereotypic behaviors, phobias, elimination difficulties, autism, eating problems, self-injurious behavior, and Tourette syndrome; evaluate and treat psychiatric disorders, such as depression and self-talk
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Examine annually to check for development of acquired heart valve disease; perform an echocardiogram if a new murmur or gallop or symptoms of heart failure develop.
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Continue subacute bacterial endocarditis prophylaxis in adolescents with cardiac defects; during adolescence, an additional 2% of patients die of complications of congenital heart disease, infections, leukemia, and accidents
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Counsel regarding the importance of protecting the cervical spine during anesthetic or surgical interventions; monitor for signs and symptoms of cervical myopathy; repeat cervical spine radiography as needed for sports/Special Olympics participation.
In particular, it is important to discuss issues related to the transition to adulthood:
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Emphasize the importance of a well-balanced diet and routine exercise
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Review plans for school placement and plans after high-school graduation and future vocational plans
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Discuss plans for alternative long-term living arrangements (eg, community living); parents should update estate planning and custody arrangements
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Encourage social and recreational programs with friends
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Address concerns regarding menstrual hygiene, sexual abuse, pregnancy, and premenstrual syndrome
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Discuss sexuality and socialization, as well as the need for supervision and degree of supervision required; review options for contraception if the teen is sexually active, as well as for prevention of sexually transmitted diseases; make recommendations for routine gynecologic care
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Monitor the family’s need for supportive care or counseling, respite care, and behavior management techniques; facilitate referrals for respite care and treatment of parental problems
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Facilitate the patient’s transfer to adult health care
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Infant with Down syndrome. Note up-slanting palpebral fissures, bilateral epicanthal folds, flat nasal bridge, open mouth with tendency for tongue protrusion, and small ear with overfolded helix.
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Child with Down syndrome. Note up-slanting palpebral fissures, bilateral epicanthal folds, small nose with flat nasal bridge, open mouth with tendency for tongue protrusion, and small ears with overfolded helix.
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G-banded karyotype showing trisomy 21 (47,XY,+21).
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G-banded karyotype showing trisomy 21 of isochromosome arm 21q type [46,XY,i(21)(q10)].
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Hand of infant with Down syndrome. Note transverse palmar crease and clinodactyly of fifth finger.
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Ear of infant with Down syndrome. Note characteristic small ear with overfolded helix.
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Characteristic flat facies with hypertelorism, depressed nasal bridge, and protrusion of tongue, as well as single palmar simian crease in 2-year-old girl with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
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Small auricle and anomalies of folds in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
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Palmar simian crease in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
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Patient with Down syndrome with protuberant abdomen and umbilical hernia. Image courtesy of L. Dourmishev, MD, PhD, DSc.
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Wide gap between first and second toes and onychomycosis in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
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Hypodontia in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
