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.

GENERAL PRINCIPLES OF HEALTH CARE :


GENETIC COUNSELING :

Validation of Down 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 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 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 AND DEVELOPMENT :

GROWTH:

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 disease. 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.

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 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.

DIET :

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, breast feeding 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 breast feeding also helps develop the baby's orofacial muscles and tongue control and promotes greater jaw stability. Breast feeding 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 :

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 :

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 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.

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.