Family-Friendly Medical Guidelines for Adults With Down Syndrome

Advances in medical care have doubled the life expectancy of people with Down syndrome (DS), who a few decades ago rarely reached their 30th birthday. This positive development has resulted in a larger population of adults who are living with the mental and physical challenges that accompany this chromosomal abnormality, but comprehensive and accessible medical guidelines for families and caregivers did not exist until now. The nonprofit GLOBAL Down Syndrome Foundation has released a publication to fill this gap: Medical Care Guidelines for Adults with Down Syndrome, available for free download.   

The GLOBAL Down Syndrome Foundation, founded in 2009, seeks to improve the lives of people with Down syndrome through research, medical care, education, and advocacy. The new guidelines come in two versions: a detailed, comprehensive guide for the medical community, and a pared-down, family-friendly version for people with DS and their caregivers and guardians. While not a complete medical resource with detailed information on every disorder relevant to the DS community, these guidelines address some key issues that have been overlooked in the past, resulting in misdiagnoses, neglect, and other problems.

Insights From Adults With DS, Plus Their Families and Caregivers

As the medical community has traditionally focused more on caring for babies and children with DS, rather than on the challenges faced by those who become adults, research in this area has been scarce. To produce these new guidelines, the project brought together people with DS, their families and caregivers, and medical experts, and is based on evidence gathered from institutions, providers, and participants.

Adults with DS, as well as experts and caregivers, had the opportunity to review the drafts, with their feedback incorporated into the final version. Before releasing them to the public, GLOBAL published the guidelines in the Journal of the American Medical Association (JAMA).

The family-friendly version is organized into nine chapters, each focused on a health topic with special significance to the DS population: Behavior, Dementia, Diabetes, Cardiovascular Disease, Obesity, Atlantoaxial Instability (relating to weakness at the base of the skull and top of the neck), Osteoporosis, Thyroid, and Celiac Disease.

Each chapter presents the issue in broad terms, then explores the challenges and misunderstandings that affect how such disorders might be diagnosed and treated. Throughout the book are recommendations, called out in larger, color-coded type and written in accessible, straightforward language.

Weighing Physical and Behavioral Symptoms

Also featured are “standards of good practices” as they relate to the subject at hand. A common theme is the importance of monitoring the health and behavior of the DS adult regularly and noting the interplay between medical symptoms and behavior when considering diagnosis and treatment.

The chapter about Alzheimer’s, for instance, notes that a large percentage of adults with DS develop dementia, an issue that is covered elsewhere in Special Needs Answers. But the guidelines warn against automatically diagnosing Alzheimer’s in adults below the age of 40. They provide a basic series of questions for caregivers and families regarding behavioral changes, loss of cognitive and executive abilities, and other developments that could be related to dementia but require close observation before jumping to that conclusion.

The main takeaway is that these conditions affect the adult DS population differently than people without DS. In some cases, DS adults are more susceptible to disorders such as dementia and Celiac disease, and perhaps less susceptible to others, such as osteoporosis and cardiovascular disease, so the guidelines stress drawing on various factors — behavioral as well as medical — rather than arriving at a quick judgment. Throughout are suggestions for maintaining a healthy, nutritious diet and a steady exercise regimen.

While long overdue, these guidelines are an invaluable resource for this often neglected and misunderstood population and their families and caregivers. Access the new family-friendly guide online.