Down's Syndrome

Swati Kolpuru
Consultant Pediatrician, USA
First Created: 12/24/2001 

Down's Syndrome - Treatment

No treatment can eliminate the chromosomal defect that causes Down's syndrome. If provided with appropriate health services, individuals with Down's syndrome can live a more meaningful life and contribute more fully to society.

Genetic Counseling

Validation of Down's syndrome and its genotype by chromosomal analysis should be considered for all affected children. Although this will not affect the child's treatment or prognosis, it has significant implications for the genetic counseling of family members. Because translocation is the cause in 4% to 6% of cases, parents and siblings will need to be tested to determine their carrier status and the risk of recurrence in future pregnancies carefully explained.

Prenatal screening & testing technologies continue to evolve. Proposed methods include separating fetal cells from the maternal circulation, and the use of multiple serum markers and nuchal thickness as measured by ultrasonography.

Routine Newborn Care

As do all newborns, infants with Down's syndrome need a thorough physical examination. The newborn examination should include neurologic and neurobehavioral assessments. Routine screening tests should be carried out in the newborn period, such as screening for certain inborn errors of metabolism and hypothyroidism.

Growth in DS

Growth in children with Down's syndrome differs from normal growth beginning prenatally. The etiology of growth retardation in individuals with Down's syndrome is multifactorial some of which are easy to treat (e.g., hypothyroidism and celiac disease). For this reason, it is important to exclude these disorders in every child with Down's syndrome. It is important to look for the presence of heart or other major organ diseases. Children with significant major medical problems will not grow well.

Clinical assessment of growth in children with Down's syndrome should include accurate, carefully taken measurements that are then plotted both on growth charts for children with Down's syndrome and growth charts for normal children. When linear growth is assessed, the variations in velocity must be taken into account. Weight/height percentiles found on the NCHS growth charts are independent of the child's age and are also useful in determining appropriate weight in children before adolescence. Because inappropriate growth and excessive weight gain have ramifications for motor performance and social acceptance for children with Down's syndrome, yearly assessments are required. Interventions for weight management may be introduced as necessary. Caloric reduction and increased exercise incorporated into a behavior management program is the approach most likely to be effective.

Diet in DS

Among the most significant concerns are feeding difficulties in young children and obesity in older children. Feeding problems may be encountered because of the children's' disproportionately large tongues, muscle flaccidity, poor coordination, significantly delayed social maturation and congenital heart disease.

For infants, breastfeeding should be encouraged. The immunogenic qualities offer additional protection against upper respiratory tract infections and other illnesses. The extra effort required of the child who is breastfeeding also helps develop the baby's orofacial muscles and tongue control and promotes greater jaw stability. Breastfeeding will take longer at first, and mothers need to be encouraged in their efforts.

Good eating habits, a balanced diet, avoidance of high caloric foods, and regular physical activities can prevent the child with Down's syndrome from becoming obese.

Safety in DS

Children with Down's syndrome are more likely to sustain joint injuries as a result of their musculoskeletal problems. For children with atlantoaxial instability or those who have not yet been adequately evaluated, contact sports, somersaults, or other activities that may result in cervical injury should be restricted.

Immunizations in DS

Vaccination does not necessarily confer immunity in individuals with compromised immune responses such as those seen in children with Down's syndrome. Additional immunization may be necessary because this group of children is considered a high risk for infection. In areas endemic for specific diseases, antibody titer levels may be assessed to determine a child's immune status. There are, however, no contraindications for immunization for children with Down's syndrome, and the national immunization schedule should be followed including the immunizations for varicella and hepatitis A.

DS Surgery

Today, surgical corrections of most major cardiac, GI and genitourinary anomalies are performed routinely. Amidst moral and ethical controversy, however, the federal judiciary decreed in 1984 that treatment of life-threatening congenital anomalies could not be refused only because a child was developmentally disabled.

In addition to life-saving surgeries, some children with Down's syndrome are also undergoing plastic procedures to alter their phenotypic appearance. Procedures include partial glossectomies, neck resections, Silastic implants for the chin and nose, and reconstruction of dysplastic helices. Better articulation of speech, less mouth breathing, fewer and less severe upper respiratory tract infections, and improved mastication and swallowing may be realized. Plastic surgery is not indicated for all children. If after counseling it is still deemed appropriate, initial revisions begin when the child is approximately 3 years old. Parents should get all information about the procedures, including risks, and talk to other parents who have had the procedures performed on their children to best make an informed decision.

Specific Medical Concerns

Heart disease: Early diagnosis and treatment of congenital heart disease in children with Down's syndrome are crucial to improving their quality and length of life. Because many infants with congenital heart disease will not have symptoms at birth, it is very important that all children with Down's syndrome be carefully screened for heart disease early in infancy.

Vision: Because of the large number of ocular defects associated with Down's syndrome, all children should be evaluated by an ophthalmologist during infancy. For children with mental retardation, an additional handicap of sensory impairment may further limit cognitive function, which may prevent them from participating in significant learning processes. Significant visual impairment is usually preventable because those conditions common in Down's syndrome such as strabismus and myopia are treatable. The absence of a red reflex is sufficient to cause for immediate referral to a pediatric ophthalmologist, so are strabismus and nystagmus. Screening should include testing acuity, examining the red reflex and optic fundi, and checking alignment and oculomotor functions. Some visual disorders, including cataracts and keratoconus, frequently do not develop until adolescence

Contact lenses are not routinely recommended but may be appropriate for children with keratoconus.

Hearing: Because good hearing is a requisite for cognitive, social, and language development and because these children are at high risk for conductive hearing losses, careful assessment is needed. It is recommended that all infants be evaluated for auditory brain stem responses during the first six months of life. Accumulation of cerumen leading to impaction is common; removal of cerumen every 6 months is recommended for children who have this problem. Otologic problems should be treated aggressively and hearing aid amplification should be considered whenever a hearing impairment cannot be corrected through medical treatment or surgery.

Dental: Because of the extremely high prevalence of dental problems in young children, aggressive dental care is necessary. The primary health care provider needs to document and carefully follow these children's dental problems.

It is recommended that the first visit to the dentist should be at the age of one year, or when the child first gets primary teeth. Brushing should also begin at that time using only water. Toothpaste should be avoided until the child is old enough to spit and rinse. Brushing should be done by parents for the first few years, and then should be supervised for as long as possible thereafter. It is also important to avoid continuous sipping and snacking throughout the day. In areas where the water supply is non-fluoridated, fluoride supplementation should be initiated. If periodontal disease is severe, chemical plaque control may be necessary. For children with congenital heart disease, prophylactic antibiotics should accompany all dental interventions. A recall system as often as three months with follow up maintenance appointments should be conducted.

Thyroid function: As the abnormalities seen in Down's syndrome are similar to some seen in thyroid dysfunction, a diagnosis of thyroid problems by clinical examination is difficult. Thyroid-stimulating hormone levels should be assessed yearly from birth. In the presence of any signs or symptoms suggestive of thyroid dysfunction, a complete thyroid panel should be drawn.

Atlantoaxial instability: The risk of the atlantoaxial subluxation must be appraised by the primary care provider for all children with Down's syndrome who are planning on engaging in physically active exercise or are to undergo surgical or rehabilitative procedures. In general, cervical spine x-ray studies should be considered after age 2 1/2 years. Reevaluation around age 8 years may be appropriate depending on the child's initial findings and activity levels.

It is recommended to screen individuals between 3 and 5 years of age with lateral cervical radiographs in the neutral, flexed, and extended positions. The space between the posterior segment of the anterior arch of C1 and the anterior segment of the odontoid process of C2 should be measured. Measurements of less than 5 mm are normal; 5 to 7 mm indicates instability, and greater than 7 mm is grossly abnormal. The cervical canal width should also be measured. The interpretation of these studies should be performed by a radiologist experienced in this area. Individuals with Down's syndrome who have not been screened may need to be evaluated prior to surgical procedures, especially those involving manipulation of the neck. These children should be managed cautiously by anesthesiology staff. The studies should be repeated, as needed, for participation in Special Olympics.

Children with borderline findings or abnormal films should be evaluated with a careful neurological examination to rule out spinal cord compression. Neuro-imaging (CT Scan or MRI) is probably indicated. Significant changes in a child's neurological status would necessitate evaluation and possible treatment (i.e., spinal fusion). Asymptomatic children with instability (5 to 7 mm) should be managed conservatively, with restriction only in those activities which pose a risk for cervical spine injury. Contact sports, such as football, wrestling, rugby, boxing, and recreational activities such as trampolining, gymnastics (tumbling), and diving, which require significant flexion of the neck, would best be avoided. It is unnecessary to restrict all activities.

Hip dislocation: Assessing hip stability through age 10 years is indicated because early detection will allow for optimal surgical correction. Early presenting signs of habitual dislocation are an increasing limp, decreasing activity, and an audible click. Pain does not usually occur unless the dislocation is acute. In older children, x-ray studies may be necessary for assessment.

Mitral valve prolapse: Screening should begin in adolescence. Echocardiographic evaluations are recommended before surgical or dental procedures.

Leukemia: Children with Down's syndrome are at risk of developing leukemia. Easy bruising, unusual pallor, or listlessness needs to be fully evaluated. Most leukemia in children less than 3 years of age is non-lymphocytic leukemia. Children with Down's syndrome usually respond favorably to standard treatment.

Management of Common Illnesses

Immune dysfunction: The significant changes in the immune systems of children with Down's syndrome have significant implications for the primary care provider. Specifically, all infections need to be treated aggressively because negative sequelae are more likely to develop. There is a greater incidence of diseases like diabetes, autoimmune diseases, and juvenile rheumatoid arthritis. A child should be thoroughly investigated if he develops any signs and symptoms. Parents need to be educated about the signs and symptoms and the need to seek treatment promptly.

Upper respiratory tract infections: Children with Down's syndrome are prone to upper respiratory tract infections due to narrow openings to paranasal sinuses. These should be promptly treated as untoward sequelae like otitis media, pneumonia are more likely to develop. In children with congenital heart disease, parents may confuse an upper respiratory tract infection for congestive heart failure. These children should be examined at the first sign of symptoms. Also, these children need subacute bacterial endocarditis treatment. The narrow trachea can result in recurrent croup. In addition, infants with Down's syndrome have an increased likelihood of tracheomalacia.

Behavioral changes: Behavioral problems may be caused by a variety of conditions like:

  • Thyroid dysfunction
  • Obstructive sleep apnea
  • Neurodegeneration
  • Congestive heart failure
  • Disturbed home environment
  • Overstimulation

Trials of antidepressants and antipsychotics may be advised after a thorough evaluation.

Gastrointestinal symptoms: Complaints of persistent vomiting, constipation, or chronic diarrhea should be carefully pursued as pyloric stenosis and Hirschsprung's disease is more common in these patients. Constipation may be due to inadequate peristalsis, poor diet, lack of exercise, or thyroid dysfunction.

Gastroesophageal reflux (GER) occurs in infants with DS, as it does in the typical population. In addition to spitting up and vomiting, some children have respiratory symptoms, such as cough, stridor, wheezing, and pneumonia. GER must be part of the differential diagnosis for these conditions, and appropriate treatment is given.

Celiac disease occurs in from 7 to 16% of children with DS, though many of these studies are from European sources. Individuals with DS are predisposed to this condition because of the known increased incidence of autoimmune disorders. Screening is best accomplished using IgA antiendomysium antibodies, following up positive results with a villous biopsy. Symptoms usually resolve following institution of a gluten-free diet.

Drug interactions: Down's syndrome is associated with functional abnormalities in the neurotransmitter enzyme systems, with the cholinergic and noradrenergic systems particularly vulnerable. Caution is advised if atropine, pilocarpine, or other related medications are to be given.

Psychiatric disorders: Major depressive disorder, autism, attention deficit hyperactivity disorders, and conduct disorders may be observed at an increased frequency in persons with Down's syndrome. Therapeutically, it is important to make a specific diagnosis, since a number of interventions are available.

Skin disorders: Awareness of the nature and prevalence of certain skin disorders in persons with Down's syndrome ensures accurate and timely diagnosis and treatment. Seborrheic dermatitis, ichthyosis, and tinea pedis are easily recognized and managed with available medications. Atopic dermatitis may be severe enough to interfere with daily living. Lifestyle modifications are often necessary and include changes in bathing habits, clothing, and use of topical corticosteroids and lubricants.

Developmental Issues

Sleep patterns: Anatomic and immunologic differences predispose school-aged children to obstructive sleep apnea. This can lead to behavioral problems, pulmonary hypertension, failure to thrive, gastrointestinal reflux, and chronic lung aspiration with subsequent frequent lung infections. The way to test is through polysomnography.

The treatment of obstructive sleep apnea is usually the removal of adenoid and/or tonsils. In severe cases, a procedure called uvulopalatopharyngoplasty (UPP) is performed: this is basically for children with floppy soft palates. Some children also have a narrowing of the laryngotracheal area, which explains some failures after surgery. Other surgeries to enlarge the midfacial area have also been proposed for severe cases.

In adults and children in whom surgical treatment has failed or was not indicated one therapy is continuous partial airway pressure.

Toilet training: The average age for toilet training with Down's syndrome is approximately 36 months. Routine toilet training techniques are effective. It will take longer, however, to train a child with Down's syndrome and additional positive reinforcement will be necessary.

Children with Down's syndrome may suffer from constipation secondary to generalized muscle flaccidity and low activity levels. Dietary corrections, occasional use of bulk laxatives, and an increase in exercise can alleviate this problem.

Discipline: Children with Down's syndrome are not usually more difficult to discipline than normal children. Parents must be encouraged to remember that discipline needs to be appropriate for the child's developmental age, however, and not their chronological age.

Child care: Daycare should provide appropriate social, cognitive, and physical stimulation for the child with Down's syndrome. Primary care providers should be aware of resources in their community to which parents may be referred to assist with daycare placement

All young children who attend group daycare are more likely to experience a greater number of illnesses, have more frequent hospitalizations.

If the individual child has proven to be highly susceptible to infections, a home care setting is recommended.

Schooling: A variety of options for academic placement ranging from mainstreaming to residential placement exist. Parents and teachers working together to create a supportive environment can ensure that the child has some social and academic successes.

Sexuality: Individualized instructions about self-care skills, biologic changes, social implications, and contraception are paramount so that both appearances of sexual impropriety and the risk of being sexually exploited is minimized. Genetic counseling for both parents and children is necessary because although men are virtually always will be sterile, women are capable of reproducing.

Females With Down's Syndrome

Special health needs in females: Menarche is usually only slightly delayed in girls with Down's syndrome. Menstruation usually settles into a regular pattern and, although many cycles will be anovulatory, fertility should be presumed. It is hard to justify involuntary menstrual suppression or sterilization unless there are major medical indications.

Women with Down syndrome need annual pelvic exams, Pap smears, and breast exams beginning at age 18 years, even if they are not sexually active. Mammograms are recommended periodically after age 35, depending on age and personal risk of breast cancer. Mammograms and breast exams are crucial in women who are not functionally able to do this themselves. There is a slightly higher risk of breast cancer in

women who have never had children. Women with DS may have menstrual irregularities, painful menstruation, or bloating weight gain, and mood changes associated with premenstrual syndrome. Other women may have difficulty with menstrual hygiene, depending on their level of function.

Medications may be helpful for symptom management. Diuretics are used to rid the body of excess fluid and analgesics may relieve cramping. Oral contraceptives and long-term contraceptives such as Depo-Provera injections may be used to control bleeding irregularities and for contraception if needed

Transition Into Adulthood

Individuals with Down syndrome range in their abilities to live independently from requiring ongoing, consistent supervision to minimal guidance with complex tasks. Recreational activities such as bowling, swimming, and dancing are encouraged because these activities promote social relationships and physical fitness. Vocational choices are directed by the individual's cognitive abilities, social skills, and adaptive abilities. Many will be able to seek competitive employment in custodial work, offices, housekeeping, restaurants, landscaping, or other occupations where the required skills are not too difficult, fairly repetitive, and there is ongoing supervision. Skills necessary to survive in the workforce such as basic money management, telling time, or using public transportation need to be mastered before seeking such positions.

Generally, most individuals' overall health is good, although premature aging occurs as early as age 20 with dental changes. Dermatologic, thyroid, cardiac, and sensory problems are the most troublesome and worsen with aging. Perhaps of greatest concern is Alzheimer's disease, which may occur as early as age 20.

When an adult with Down's syndrome is diagnosed with Alzheimer's disease, focus on Safety, Stability (of the environment), Social (emotional) issues, and Symptoms. As the adult with Down's syndrome experiences a greater decline, the family will often have difficulty maintaining a safe environment. Falling because of gait apraxia, wandering from home, and touching or using objects in the home that can be harmful if used inappropriately (e.g., the stove) can all be problems that the family cannot prevent. In addition, when the adults become bed-bound, frequent turning, or changing the position to prevent bedsores is necessary and may be more than the family can provide. Safety is frequently the concern that requires a change in living arrangements and, if no specialty care programs are available, may require admission to a nursing facility

Down's syndrome - Development

Children with Down's syndrome will pass through the normal developmental milestones but at a much slower rate than expected. Early intervention programs are designed to monitor and enrich development focusing on feeding, gross and fine motor development, language, and personal/social development. Individuals with Down's syndrome may be taught language using a total communication approach, which includes signing as well as a spoken language. Sharing the results of the child's developmental gains with the parents will objectively demonstrate the child's improvement, reinforcing the parents' efforts.

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Down's Syndrome Down's Syndrome 2001-12-24
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