Health Care Guidelines

Original Interview with William I. Cohen, M.D. on the significance of Down syndrome health care guidelines.

The importance of the document is to support parents in getting the screening tests done that we believe are important to keep children and adults with Down syndrome healthy. Pediatricians may have between three and five children with Down syndrome in their practice, and although they may be knowledgeable about the current recommendations, I don’t expect them to be able to keep up in the same way as parents, who really become experts about the needs of their children. And even though we write about and present these issues in a variety of forums – at scientific meetings and continuing medical education conferences – the issue may not be as compelling for physicians as it is for parents.

Specialized guidelines help define for parents what is needed, so they can communicate with their primary care physician and say, “This is what is recommended. This is what we need to do.” It is a helpful tool for physicians, too, because it defines the medical vulnerabilities and the necessary screenings.

Original Interview with William I. Cohen, M.D. on the significance of Down syndrome health care guidelines.

The notion that many folks would have is that they need to find someone who’s very knowledgeable; that it really is going to help them to have somebody who is an expert on Down syndrome. In my experience, some of the people who believe they may be experts on Down syndrome may not be current. They may be enamored of their expertise and fail to listen to parents about what may be different with their child. A mother once came to me with a new baby and said, “My doctor is a family physician, and he said that he doesn’t know anything about Down syndrome.” I anticipated that she had reacted to this as if it was a problem, but she went on to say, “And so he told me that any information I could bring him would be so appreciated.” He, indeed, is the kind of physician you want - one who is open to partnering with a family. The knowledge that someone has is necessary, but not sufficient. In fact, not having the knowledge is less of a problem than believing you have it.

What we need when we have a child with special health care needs is someone who will collaborate, who is open to listening to parents and seeing them as partners. We need to know how to identify someone with that style. One of the best ways to find a pediatrician is to ask families of other children with Down syndrome in the area. Going to parent support groups can be very helpful. But I will tell you that the most effective thing is for parents to be the educator of the physician.

The American Academy of Pediatrics (AAP) has updated its recommendations for pediatricians and families affected by a diagnosis of Down syndrome with a clinical report written by the AAP Council on Genetics and published in the journal Pediatrics (Vol. 149, Issue 5, May 2022) called “Health Supervision for Children and Adolescents With Down Syndrome".

This clinical report is designed to assist the pediatrician in caring for the child, adolescent, and family in whom a diagnosis of Down syndrome has been confirmed by chromosome analysis or suspected by prenatal screening. Although a pediatrician’s initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given a prenatal diagnosis of Down syndrome will be referred for review of the condition and genetic counseling; this report offers guidance for this situation, as well.

Age-specific guidance for the clinician is also provided in this helpful chart.

The AAP also developed a helpful medical guide called “Health Care Information for Families of Children with Down Syndrome" that was based on the original Health Supervision Guidelines published in 2011. These guidelines help define the standards of quality care for individuals with Down syndrome. In addition to specific recommendations for screening tests, they include information about the kinds of medical conditions that individuals with Down syndrome are at risk for and suggestions for early intervention, diet and exercise, and other issues across the lifespan. This document focuses on medical topics that affect physical health. The medical issues for a child with Down syndrome change with age. For this reason, the document includes checklists by age spanning the prenatal period through age 21.

Children with Down syndrome (DS) tend to have lower birth weights and grow more slowly than children without DS. For this reason, the use of typical growth charts used by physicians may not accurately reflect the growth of a child with DS. The clinical growth charts specific for children with DS can be used as screening tools to assess growth and nutritional status and to provide indications of how the growth of an individual child compares with peers of the same age and sex with DS. Be sure to ask your child’s physician which growth charts they are using and make sure they are aware of the charts which include growth information specific to children with DS. 

In 2014, the Global Down Syndrome Foundation (GLOBAL) established an Adult Down Syndrome Task Force (Global Task Force) made up of over 60 adults with Down syndrome, family members, and professional experts.

The Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup (GLOBAL Workgroup) was formed in 2016 to create evidence-based and updated medical care guidelines for medical professionals and adults with Down syndrome and their families or caregivers, intended to improve health outcomes for this population.

The GLOBAL Medical Care Guidelines for Adults with Down Syndrome provide evidence-based medical recommendations to support clinicians in their care of adults with Down syndrome. This life-changing resource covers areas deemed critically important for the health and well-being of adults with Down syndrome and outlines critical future research needs. Adults with Down syndrome and their caregivers should review the GLOBAL Guidelines with their clinicians to ensure they are receiving care meeting best-practice standards for adults with Down syndrome.

The Family-Friendly GLOBAL Adult Guideline provides the same important information covered in the full GLOBAL Guideline in a family-friendly format with helpful pull-out quotes, definitions of medical terms, large photos and font, and is color-coded by medical topic.

In addition, GLOBAL has created this helpful checklist intended to support the health of adults with Down syndrome and shared with your medical professionals.