Down syndrome is a developmental disability caused by an extra chromosome. This abnormality impairs physical and neurological development, resulting in mental retardation and such physical characteristics as poor muscle tone, short neck, broad hands and feet, and slanting eyes.
Children with DS may also have respiratory problems, gastrointestinal problems, spinal problems, heart problems, and problems with hearing and language.
They are also at increased risk for hypothyroidism (a low thyroid hormone level), eye abnormalities (cataracts, strabismus, nystagmus, glaucoma and refractive errors), hearing loss and deafness (usually from repeated ear infections), mental retardation (ranging from mild (IQ 50-70), moderate (IQ 35-50), and sometimes severe (IQ 20-35), developmental delays (including speech and motor delays), leukemia (<1%>
In the nursery, children who are suspected of having trisomy 21 will usually have an evaluation to make sure he doesn‘t have a heart problem. This will include an EKG, chest x-ray, and a cardiology consult with an echocardiogram.
He will also have blood drawn to check his chromosomes to confirm the diagnosis and make sure he doesn‘t have a balanced translocation (which requires consultation with a genetics specialist to discuss the risk of having another baby with this condition). He will also have a blood screening test to check for hypothryoidism.
Problems that can occur in the newborn period include difficulty with feeding and poor growth, especially if he also has a heart problem. He may have to be on a concentrated, high calorie formula to help him gain weight.
His initial visit during the newborn period will include a detailed evaluation of his growth and development, with special attention paid to look for eye abnormalities. It is also a good time to get a referral to a Down Syndrome specialty clinic or support group if one is available in your area and to an Early Child Intervention programme for occupational and physical therapy.
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