Healthcare – In General and in Central Texas

Children with Down syndrome generally require the same medical care as any other child. Because children with Down syndrome may be at risk for certain conditions, however, parents and medical professionals should carefully consult American Academy of Pediatrics “Health Supervision for Children with Down Syndrome” Guidelines (preventative checklist) for diagnostic care even if the child is not showing symptoms of a specific condition. This promotes prevention and early treatment of medical conditions, rather than waiting for problems and then playing catch-up. Find the Guidelines at http://pediatrics.aappublications.org/content/early/2011/07/21/peds.2011-1605; if your doctor is not familiar with them, take a copy to every well-check appointment and ask him or her to review and follow the Guidelines in ordering diagnostic and screening tests.

We also invite parents to download and take to your OBGYN and/or pediatrician, at the next well-check, our 2014 “DSACT Letter to Clinicians.” The letter outlines recent developments related to Down syndrome cognition research, pediatric healthcare guidelines and prenatal screening. It also lets doctors know that DSACT will provide materials for them to give new parents at the time of diagnosis. Thanks for getting the word out to the medical community!

Common medical considerations for individuals with Down syndrome occur at the following frequency (many of which are correctible through surgery and/or medical treatment):

  • 60 to 80% have hearing deficit
  • 60 to 80% have hearing deficits
  • 40 to 45% have congenital heart disease
  • 8 to 12% have intestinal abnormalities
  • 3% have cataracts, and children with DS often have other eye problems such as strabismus
  • 15 to 20% have hypothyroidism
  • 15% have atlantoaxial instability
  • 45% have sleep apnea

Other important medical aspects include immunologic concerns, leukemia, alzheimers disease (including early-onset), seizure disorders, celiac disease, skin disorders, nutritional concerns, and other skeletal problems.

Parents need to know it is very unlikely their child will develop all or even most of these medical conditions, and need to understand many are highly treatable. Parents also need to know that life expectancy is now 55-60 years with some individuals living into their 70′s, and individuals with DS have lower than average risk of developing solid tumors.

Depending on whether your child has any one or more of the medical conditions, he or she may benefit from seeing (in addition to the regular pediatrician) an ENT (ear, nose and throat doctor) for hearing and tonsil/adenoid issues, a pediatric ophthalmologist (not an optometrist) for eye issues, a pediatric endocrinologist for hypothyroidism, pediatric dermatologist, and/or a pediatric cardiologist. The DSACT yahoo group is a great place to ask for recommendations of pediatricians and specialists who welcome children with Down syndrome into their practice and provide attentive care. Many families use the specialists and subspecialists at ‘Specially for Children’, a large group of pediatric specialists who practice at Dell Children’s Medical Center.

There is no Down syndrome specialist or Down syndrome clinic in the Central Texas area. In 2014, a new clinical initiative has been made available to children with Down syndrome who live in Travis County and receive Medicaid. It’s offered by the Children’s Comprehensive Care program and is called Partners for Children’s Health (PCH). This community program allows patients to remain with their community pediatrician for their primary care services, but offers additional support services from a team of healthcare professionals including an RN case manager, social worker, child life specialist, family liaison, and community health workers. In addition, the PCH patients will have child psychology and child/ adolescent psychiatry available. This service is free for those who qualify. For more information, call Kendra Koch at (512) 538-2264 or email her at kdkoch@seton.org.

Cognition Research

Down syndrome cognition research is making great strides to:

  • identify the genes on chromosome 21 that cause characteristics of Down syndrome;
  • develop treatments for the cognitive effects of Down syndrome; and
  • transfer therapies developed for Alzheimer’s disease to Down syndrome.

Recent advances include:

  • 2005 establishment of the Center for Research and Treatment of Down Syndrome at Stanford University. The Center seeks to apply research discoveries to useful treatments and focuses on the cognitive effects of Down syndrome;
  • 2003 establishment of the Down Syndrome Research and Treatment Foundation. DSRTF’s mission is to stimulate biomedical research that will accelerate the development of treatments to significantly improve cognition, including memory, learning and speech, for individuals with Down syndrome.
  • 2007 Stanford study of Down syndrome mouse models noted 17 days’ of low-dose therapy with pentylenetetrazole (PTZ) produced normal learning behavior;
  • Kennedy Krieger Institute at Johns Hopkins has launched 2 studies of the use of Alzheimer’s treatments for individuals with Down syndrome;
  • 2008 establishment of Linda Crnic Institute for Down Syndrome at the University of Colorado – Denver with $34 million grant to address basic research, clinical research and clinical care.
  • 2011 formation of NIH Down Syndrome Consortium.
  • 2013 successful completion by Roche Pharmaceutical of a Phase I clinical trial to investigate safety of molecule to address cognitive and behavioral deficits associated with Down syndrome.
  • 2013 launch of national Down Syndrome Patient Registry. dsconnect.nih.gov.
  • Three different clinical trials (Phase II Roche study and two others) ongoing in 2014.

DSACT does not endorse (or discourage the use of) nutritional supplements developed specifically for Down syndrome (such as Nutrivene), or medications such as Piracetam, Aricept, or Exelon for use with individuals with Down syndrome. Whether or not to use these supplements or medications is a matter to be discussed with your child’s doctor.

DSACT Video “Down Syndrome in the 21st Century”

Parents and healthcare professionals interested in development of individuals with Down syndrome will want to watch DSACT’s video “Down Syndrome in the 21st Century.” This video profiles individuals with Down Syndrome from infancy through adulthood doing remarkable things and contributing to their families and communities in ways that were not thought possible ten or twenty years ago.

The video is ideal for new or expectant parents, educators, physicians or other healthcare professionals, and the community, and provides a current, first-hand view of individuals with Down Syndrome today.


Additional Resources

Email the DSACT yahoo group with health-related questions. Often another DSACT member will have a resource or suggestion.

Internet Resources on Health

  • www.ds-health.com – Website includes Health Care Guidelines for Individuals with Down Syndrome. This is a wonderful DS health-related website maintained by a Corpus Christi pediatrician, Len Leshin, M.D., who has a son with DS. Find a wealth of information and resources on this website, as well as abstracts of clinical research articles translated into plain English.
  • www.Txp2p.org (Texas Parent to Parent, support and information to families of children with disabilities)
  • www.ndsccenter.org – National Down Syndrome Congress
  • www.ndss.org – National Down Syndrome Society
  • http://www.kennedykrieger.org/kki_cp.jsp?pid=1399 – Down Syndrome Clinic at Kennedy Krieger Institute, part of Johns Hopkins Medical Center. The Kennedy Krieger DS Clinic provides comprehensive medical and therapeutic care to individuals with DS; the website lists current Johns Hopkins clinical research studies related to DS. Often the researchers are looking for individuals to participate in the research studies.
  • http://www.riverbendds.org – Wonderful, highly-informative and well-indexed website of an Illinois Down syndrome association. Find articles on health, development, education and a host of other topics.

Internet Resources on DS Research

Recommended Books about Therapy and other DS Issues

  • woodbinehouse.com (catalog of books on DS)
  • Winders, Patricia PT: “Gross Motor Skills in Children with Down Syndrome: A Guide for Parents and Professionals” ( Especially Recommended by DSACT)
  • Bruni, Maryanne: “Occupational Therapy and the Child with Down Syndrome
  • Kumin, Libby: “Communication Skills in Children with Down Syndrome: A Guide for Parents”

DSACT does not provide specific medical advice to any individual with Down syndrome. This website provides general health information about Down syndrome. For specific medical questions, contact your healthcare professional.