Down Syndrome

Down syndrome is sometimes referred to as Trisomy 21. The various physical and mental abnormalities associated with Down syndrome are caused by a genetic imbalance. Normally, every human cell contains 46 chromosomes.  However, individual diagnosed with Down syndrome will have 47 chromosomes in each cell, with the exception of the sperm and ova. This disorder occurs in approximately one out of every 800-1,000 live births. Presently about 4,000 children per year will be born with Down syndrome in the United States. Parents of any age may have a child with Down Syndrome, however it is more common in children born to women over the age of thirty-five. Down syndrome results in physical and developmental features including:

  • Poor muscle tone
  • Slanting eyes with folds of skin at the inner corners (epicanthal folds)
  • Hyperflexibility of joints (ex. "w" sitting)
  • Short, broad hands with a single crease across the palm on one or both hands
  • Broad feet with short toes
  • Flat bridge of the nose
  • Short, low-set ears
  • Short neck
  • Small head
  • Small oral cavity, resulting in a protruding tongue
  • Small stature
  • Speckling of the iris (Brushfield Spots)
  • Wide gap between the first and second toes
  • Short, high-pitched cries in infancy
  • Congenital heart disease
  • Mental Retardation

The presence and degree of the aforementioned characteristics vary with each child. Many other features are associated with Down syndrome, and some of those listed above may be found in children without this condition.

With present medical and surgical intervention, and with improved educational opportunities, the prognosis for children with Down syndrome has improved dramatically. Many individuals now survive beyond the ages of 50 or 60.The most significant improvement in their physical and mental development has resulted from deinstitutionalization and from training in self-help and work skills.

Children with Down syndrome tend to be hypotonic, that is, to have low muscle tone at birth, making them floppy and poorly coordinated; this does improve with age, however. Overall growth is relatively slow, and final height is reached at around age 16. Girls may menstruate and be fertile, but males are usually infertile.

Mental retardation, which is invariably associated with this syndrome, becomes more evident as the child grows older and IQ and social maturity tests include more items calling for abstract reasoning.  Performance on adaptive behavior tests usually improves. Serious health problems that may accompany Down syndrome's are congenital heart disease and blockage in the small intestine (duodenal atresia). Because these children have a lowered resistance to infection, they frequently have respiratory infections, runny nose (chronic rihinitis), and conjunctivitis. Also common are eye problems, such as crossing (strabismus) or refractive error (e.g. farsightedness and nearsightedness), and mild-to-moderate hearing loss. Children with Down syndrome are 10 to 20 times more likely to develop acute leukemia.

Children who have Down syndrome have specific developmental/medical needs which Respite Providers should be aware of. An infant with Down syndrome may be difficult to handle because of decreased muscle tone (i.e. may feel like the infant is "slipping" through your arms). Wrapping the infant in a blanket may make holding him/her easier.
Infants with Down syndrome should be fed slowly, with rest periods during feeding. This is especially important if the infant has congenital heart defect. The infant should be held with head slightly raised to prevent milk from flowing from the throat into the inner ear and solid food should be pushed towards the back of the infant's tongue. The filled spoon should be pressed down slightly on the infant's tongue to encourage lip closure and to facilitate food intake, and bits of solid food can be placed on one side of the mouth to encourage rotary movement and more mature chewing patterns. Many infants with Down syndrome need increased fiber and fluid in their diet as well. As Respite Providers, it is always important to check with parents on the individual child's nutritional needs.

Appropriate developmental stimulation of all children is important and especially for children with special needs, such as Down syndrome. Create a supportive learning/living environment that stimulates all the senses. It will also be important to prevent over-stimulation. Encourage the child to initiate and to take turns. Give the child ample time to act and then respond positively to the child's attempt to engage you.

Obesity is another problem that can occur. Short stature is common and accentuates weight, as does the tendency for children with Down syndrome to be more passive observers rather than active participants. This issue can be addressed through well-balanced diet, exercise, and inclusion of children with Down syndrome in all aspects of community life.

Funding for this program provided by the Department of Health and Human Services