The National Down Syndrome Society (NDSS) publishes a set of Health Care Guidelines for Individuals with Down Syndrome , which reflect current standards and practices in the United States. NDSS emphasizes that children with Down syndrome need the usual health care screening procedures, immunizations, and preventive health measures that are used for the pediatric population at large. NDSS also recognizes that youngsters with Down syndrome have some unique risks as well as different levels of risks for particular diseases and disorders. The health guidelines provide a framework to detect disorders within these risk categories.

Please visit the NDSS site for more details on Health Care Guidelines for Individuals with Down Syndrome

The NDSS Health Care Guidelines address the following categories for children with Down syndrome:

History
Exam
Lab and Consults
Developmental

The guidelines are broken down by three age groups within the pediatric population:

• Neonate: birth to one month
• Infancy: 1-12 months
• Childhood: 1-12 years
  

Beyond the age of 12 years, there are additional guidelines for both adolescents and for adults.

HISTORY: In addition to the usual medical history questions used for typically-developing children, the clinician should focus specifically on the following:

• Neonate:
  Parental concerns about the diagnosis of Down syndrome and family support issues
  Questions about hearing and vision
  Feeding history and caloric intake
  Issues with vomiting or absence of stools
• Infancy:
  Parental concerns, particularly regarding hearing and vision
  Questions about respiratory infections, especially otitis media
  Concerns about constipation and consideration of Hirschsprung disease
• Childhood:
  Parental concerns
  Child’s level of function and participation in developmental programs
  Sleep disturbances, particularly sleep apnea
  Ear and bowel problems
  Eye and dental care
  Behavioral issues
  

PHYSICAL EXAM: In addition to a general physical and neurological exam, the clinician should follow these recommendations:

• Neonate:
  Special attention to cardiac exam for congenital heart defects
  Evaluation for congenital cataracts
  Check for otitis media, and perform subjective assessment of hearing
  Check fontanelles for signs of hypothyroidism
• Infancy:
  Visualization of tympanic membranes
  Neuromotor and musculoskeletal examination
• Childhood:
  Evaluation for signs of spinal cord compression
  Brief vulvar examination for girls
  Use Down syndrome growth charts for weight and height
  

LAB AND CONSULTS:

• Neonate:
  Chromosomal karyotype and genetic counseling
  Hematocrit or CBC
  Thyroid function test
  Evaluation by pediatric cardiologist, including an echocardiogram
  Refer for auditory brainstem response (ABR) or otoacoustic emission (OAE) test at birth or by 3 months of age
  Refer to pediatric ophthalmologist for screening by 6 months of age
  Consultation with feeding specialist (O.T. or lactation nurse) if any feeding difficulties
• Infancy:
  Evaluation by pediatric cardiologist, with echocardiogram, if not done in neonate period
  ABR by 3 months of age if not done in neonate period
  Pediatric ophthalmology exam by 6 months of age
  Thyroid function test (TSH and T4) at 6 and 12 months of age
  Evaluation by ENT for recurrent otitis media if indicated
• Childhood:
  Echocardiogram by pediatric cardiologist if not done earlier
  Thyroid function tests (TSH and T4) annually
  Behavioral auditory testing every 6 months until 3 years and then annually
  Eye exams annually if vision is normal, or more frequently if indicated
  Lateral cervical spine x-rays to rule out atlantoaxial instability, between 3 and 5 years of age
  Screening for celiac disease at 2-3 years of age
  Administer pneumococcal vaccine at 2 years of age
  

DEVELOPMENTAL:Children with Down syndrome typically follow a normal developmental process, albeit at a slower rate. Clinicians working with this population should support the following interventions:

• Neonate:
  Discuss value of Early Intervention Programs and refer for enrollment.
  Discuss the unfolding nature of Down syndrome.
• Infancy:
  Discuss Early Intervention Programs and refer for enrollment if not done earlier.
  Tell parents that the program normally includes physical and occupational therapy evaluations, as well as a developmental assessment.
• Childhood:
  Encourage enrollment in appropriate developmental or education programs.
  Look for complete educational assessment annually (IFSP from ages birth to 3 years, then IEP from age 4 years and up).
  Strongly recommend evaluation by speech and language pathologist.
  Consider augmentative communication device for children with significant communication impairment.