In July of 2011, the American Academy of Pediatrics (AAP) Committee on Genetics published revised guidelines to assist physicians in providing care to individuals with Down syndrome (Ds). Previous guidelines were published in 1999. Eight years later, the most welcomed and updated guidelines provide clinicians assistance in the key areas including prenatal testing and counseling; feeding in the infant with Down syndrome; airway, cardiac , neurologic and gastrointestinal assessment; growth in children with focus on BMI or weight for length (no longer using Ds growth curves); evaluation for atlantoaxial instability (AAI), clarification about screening for thyroid disorders and celiac screening; and vision and hearing screening.
This article focuses on the specific needs for adults with Down syndrome and is based on Dr. Leigh Wilson’s “Preventive Care for Adults With Down Syndrome”, first published by the American College of Preventative Medicine. It is important to start looking for a knowledgeable primary care physician for your loved with Down syndrome as early at his or her 14th birthday. The transition from the pediatrician to an adult health care provider can be intimidating, so ask your own PCP what how they feel about caring for an adult with Down syndrome.
If they are hesitant, ask them if they could make a referral to a colleague who has experience and knowledge in this field, or ask other parents. Please remember that you are the advocate for your loved one and it is ok for you to ask questions and to make suggestions to your chosen MD. Many providers, despite their many years of practice, lack a comfort in caring for the adult with special needs. For this reason, it is essential that you empower yourself with the knowledge of the specific needs of individuals with Ds.