Focus on Subspecialties: Support groups lead effort to educate parents about Down
Peter J.Smith, M.D., M.A., FAAP and EdwardGoldson, M.D., FAAP
Focus on Subspecialties
The lives of individuals with Down syndrome are improving in every way measurable.
In addition, researchers are on the cusp of developing therapies that have the potential
to improve cognitive outcomes.
Unfortunately, this good news is not being shared with new and expectant families.
As a result, family support organizations have initiated a new “information rights”
movement to push for state laws that address this lack of information.
There is consensus that all parents of children with Down syndrome (both pre- and
postnatal) should receive information regarding the experiences, health outcomes,
lifespans and quality of life for individuals with Down syndrome. In addition, they
should be informed of clinical trials of new medications and treatments.
Multiple research teams have protocols enrolling study subjects. For example, a team
at the Jerome Lejeune Institute in Paris has a study of young children underway (https://clinicaltrials.gov/ct2/show/NCT01576705) that employs a combination of folic acid and thyroid hormone. Researchers primarily
are measuring cognitive performance during and after therapy. Preliminary work has
shown significant promise, and results might be released later this year. Because
of their early successes, efforts are ongoing to mount a similar study in the United
Other researchers, such as Alberto Costa, M.D., Ph.D., in Cleveland, and pharmaceutical
companies have new molecules that have shown potential to increase cognitive performance
in individuals with Down syndrome. In addition, the National Institutes of Health
has launched an international registry (https://dsconnect.nih.gov) to collect health care information from people with Down syndrome to aid researchers.
However, many worry that recruitment to these studies could be diminished due to the
lack of awareness among primary care providers and the general public.
A coalition led by family support organizations has emerged to raise awareness of
both the dramatic improvements in the lives of individuals with Down syndrome and
emerging clinical trials. The coalition includes clinicians, policymakers, legislators
and researchers who are working to enact state laws that would require the dissemination
of information to new or expectant parents.
In 2012, Massachusetts became the first state to pass legislation mandating that clinicians
provide accurate information to parents of children with Down syndrome and referral
to parent support organizations. Kentucky followed suit in 2013, proving that this
issue transcends the partisan divide. Most recently, Illinois unanimously passed similar
legislation despite having a notoriously divided government.
It is hoped that families of children with other disabilities will follow the lead
of the Down syndrome community and advocate for the dissemination of important information.
Pediatricians can join them in their work.
Dr. Smith is a member of the AAP Section on Developmental and Behavioral Pediatrics
Executive Committee. Dr. Goldson is a section member and former executive committee
member. James Ronayne, M.D., AAP candidate member, contributed to this article.