SPECIFIC MEDICAL CONCERNS :


Heart disease :

Early diagnosis and treatment of congenital heart disease in children with Down's syndrome is 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 a href="/fordoctor/diseasesandcondition/PEDIATRIC_OPTHALMOLGY/Squint.asp" style="color:#10a2e0;text-decoration:none;">strabismus and myopia are treatable. The absence of a red reflex is sufficient 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 till 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.
  
  
• Weaning children from the bottle by 18 months and diets that contain low-sugar crunchy foods, such as fresh vegetables should be encouraged.
  
  
• It is also important to avoid continuous sipping and snacking through the day.
  
  
• In areas where the water supply is nonfluoridated, 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 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 21/2 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.