Member-generated provider list
DSACT often receives requests for referrals to local medical providers who have experience with and knowledge about the Down syndrome community.
As with many things in our lives, some of the best recommendations come from friends, family, and acquaintances. Our members are the best people to provide recommendations for welcoming medical professionals, so we maintain a list of medical providers that have received high praise from DSACT members.
It's time to update the list, so we're asking you to share your favorite providers here, along with sharing some insight into other areas to help inform our future medical outreach efforts. As the DSACT community grows, one of our goals is to the expansion of our outreach efforts to adult providers - to ensure we have competent and qualified medical professionals as our family members move past their childhood and adolescent years. And we also want to know how we can support members with their knowledge and comfort level regarding medical issues.
Thanks so much for your input and expertise!
DSACT-UT Dell Medical School Residency Project
In 2020, DSACT partnered with UT Dell Medical School to help medical residents learn from and about the Down syndrome community.
DSACT families are invited to sign up for a one-to-one, 60-minute virtual session with a UT Dell Medical School resident. Using this questionnaire, families and residents will discuss the medical, educational, and social experiences they’ve had with their loved one with Down syndrome. By participating in this project, medical residents will develop understanding and appreciation for the abilities of individuals with Down syndrome and the concerns they and their caregivers face.
We encourage parents and caregivers of an individual with Down syndrome of any age to participate and hope all DSACT families find value in helping future physicians learn about the Central Texas Down syndrome community, our strengths, and our concerns about our loved ones’ health.
All sessions are virtual and are scheduled per each resident’s availability. Families who sign up for this opportunity will be provided a Zoom link to log in at your scheduled time. Expect to spend an hour with the medical resident. The questionnaire provides an outline the resident will follow. Please prepare as you wish; the questionnaire is provided so you can think about what experiences you wish to share. The session will be more conversation than interview.
One of the most powerful things families remember is their diagnosis experience - what went well and what didn't. Sharing this helps medical professionals understand how important that conversation is. Discussing this and other life moments can lead to improved relationships for future families and physicians. Please consider helping a physician-in-training understand the world of Down syndrome.
If you have questions about this project or have feedback about your experience, please contact us at admin@dsact.org.
Overview
Individuals with Down syndrome need the same medical care as their same-age peers, However, there are additional measures physicians should be familiar with and conduct with individuals with Down syndrome. Parents are encouraged to ensure their child’s medical providers are familiar with these guidelines, even if their child shows no signs of a specific condition.
Common medical considerations for individuals with Down syndrome are listed below. May are correctible through surgery and/or medical treatment.
Hearing deficits
Congenital heart disease
Gastrointestinal concerns, such as celiac disease
Eye problems, such as cataracts or strabismus
Hypothyroidism
Atlantoaxial instability
Sleep apnea
Immunologic concerns
Leukemia
Alzheimer’s disease, early-onset (please see information from the National Task Group on Intellectual Disabilities and Dementia Practices on the AD drug aduhelm for individuals with Down syndrome and AD)
Parents should understand 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 60 years with some people living into their 70's.
Medical Transition to Adulthood
The transition from pediatric providers to adult providers, usually at age 18 years, is an important one and takes advance planning. The individual with Down syndrome, current and future caretakers (e.g., parents, sibling, other relatives, caregivers), pediatric providers, new adult providers, and sometimes school and therapists will all likely be involved. Use the button below to access some helpful planning documents.
Women’s Health Resources
Looking for information about menstruation, menopause, birth control, breast cancer, or hygiene? Check out the Adult Down Syndrome Center’s resources on women’s health with the button below.
Down Syndrome Clinics in Texas
There is not currently a Down syndrome clinic in the Austin area. There are Down syndrome clinics at Children’s Health in Dallas and Texas Children’s Hospital in Houston. Caregivers may also want to contact Down Syndrome Clinic to You (DSC2U) to be added to the outreach list. DSC2U is the brainchild of highly respected Down syndrome researcher and physician Brian Skotko, MD, and will allow caregivers to fill out an online form to outline health concerns and be provided with two personalized documents - one for the caregivers and one for the primary care provider.
The Adult Down Syndrome Center in Illinois has a wealth of resources available on its website, for adolescents and adults with Down syndrome, parents and families, and health care professionals.
Research
Why is participating in research important? Individuals with Down syndrome who have participated in research have played a significant role in extending the lifespan and improving the health of individuals in the Down syndrome community. Reviewing the list of advances below will help you understand the ways in which research has helped the Down syndrome population. Thanks to those who have dedicated their time and input, we now have medical care guidelines for children and adults, answers to the connection between Down syndrome and Alzheimer’s disease, and increased funding as grantors recognize the importance of including individuals with Down syndrome in research studies.
Below you will find various opportunities across the United States.
The Down Syndrome Clinical Trials Network (DS-CTN) was built to conduct large-scale, multi-site trials with experienced clinicians who are experts at providing medical care for individuals with Down syndrome. Founded in 2019, today the DS-CTN is accelerating research into the unmet medical needs of people with Down syndrome. DS-CTN sites are “clinical trial-ready” in that they already provide high quality clinical care to individuals with Down syndrome, have significant experience working with the population, and are skilled in the conduct of clinical trials and data collection.
In addition to conducting trials, DS-CTN services are available to trial sponsors who need consulting expertise in order to design, evaluate feasibility, and prepare a clinical trial for the Down syndrome population.
DSACT encourages families to engage with LuMind IDSC Foundation’s myDSC, a comprehensive, easy-to-search online library of lifestyle, educational, healthcare, medical and research information and tools for the personal goals of your loved one with Down syndrome. Resources include: webinars and podcasts, Q&A with Down syndrome medical experts, research survey results, clinical trials near you, general and healthcare surveys, easy access to DSC2U (see above), independence tracking via MapHabit (see below), and tracking for Alzheimer’s disease through GoalNav.
TRCDS (Trial-Ready Cohort - Down Syndrome)
TRC-DS matches healthy adults between ages 35-55 with Down syndrome to clinical trials related to Alzheimer’s disease. TRC-DS routinely monitors study participants for any changes to their brain health or function over time through blood tests and brain imaging to eventually match them with applicable Alzheimer’s disease clinical trials. Because participants are routinely evaluated, researchers can fast-track them for enrollment into qualifying clinical studies as soon as they are eligible and matched with one. There are various 12 locations across the United States and three in Europe.
Current research opportunities:
The Effect of Congenital Heart Disease on Employment, Neuropsychological Outcomes, and Quality of Life in Adults with Down Syndrome: The purpose of this research study is to collect information from adults with Down syndrome and their parents (or caregivers) to answer questions about the impact that heart disease may have on outcomes in adulthood. Researchers at the Medical University of South Carolina are looking for all adults (18-45 years old) with Down syndrome, both with and without congenital heart disease, and their parents or legal guardians who would like to participate. Participation will include completing a one-time online survey that should take approximately 1-2 hours. Questions can be answered in more than one sitting. Participants will be compensated for their time. Paper copies of the research survey are available by request.
Human Trisome Project: Designed to be the largest and most comprehensive study of its kind, the Human Trisome Project will help us understand why individuals with Down syndrome (caused by trisomy of chromosome 21) are protected from some medical conditions, such as cancer, while highly predisposed to others, such as Alzheimer's disease and autoimmune disorders. See here for details on getting in touch with the project team.
PrO-PEAR Research Study: Researchers at the University of Pittsburgh are recruiting families with a child ages 12-36 months with Down syndrome to participate in the Preventing Obesity through Parent Empowerment and Activation of Routines study. Two interviews will be conducted via phone and participants will be compensated for their time. This information will be used to design an obesity prevention intervention specifically designed to meet the needs of families with a young child with Down syndrome.
PODER (English; Español): Researchers at The University of Texas Steve Hicks School of Social Work are working to understand the health experiences of children and youth with developmental disabilities and their families. This study will help them learn about the eating, physical activity, and health behaviors of these families, so they can create better ways to support the health of families. Families with a child ages 6-17 years old are eligible. Nuestro objetivo es comprender las experiencias de salud de los niños/as y jóvenes Latinos con discapacidades del desarrollo y sus familias. Este estudio nos ayudara a aprender sobre su alimentación, actividad física y comportamientos de salud, para que podamos crear mejores formas de apoyar la salud de las familias Latinas como la suya.
MapHabit Research: LuMind IDSC is seeking 500 participants with Down syndrome (ages 7-17 years old) for a new study of technology to enhance independence. The MapHabit app aims to provide cutting-edge technology that will help those with Down syndrome and their caregivers manage their daily activities with visual maps. By using the MapHabit app for a period between 3 - 6 months, individuals and their caregivers will be able to work on important skills while providing data that will help improve the app. Participants must be members of the myDSC community (this is free and you can sign up with the link above).
Investigating Hip Helpers® for Infants with Down Syndrome: Researchers at the University of St. Augustine in Austin are conducting a long-term study to investigate Hip Helpers®, support shorts occasionally used for babies with low muscle tone. Babies 3-9 months old who are not yet able to sit up independently may be eligible to participate. Participation includes monthly gross motor assessments by a physical therapist (in home or virtually) and submitting videos when new motor milestones are reached.
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
transfer therapies developed for Alzheimer's disease to Down syndrome
Recent advances include:
2022: Updated Health Supervision for Children and Adolescents with Down Syndrome is published by the American Academy of Pediatrics.
2020: Medical Care Guidelines of Adults with Down Syndrome published in the October 20, 2020, Issue of JAMA, the Journal of the American Medical Association. Publication in JAMA underscores the quality of the Global Guideline and ensures that clinicians across the U.S. have access to this important resource. DSACT is a proud donor of this first evidence-based research.
2020: Research from Alzheimer’s Association, Global Down Syndrome Foundation, and LuMind IDSC Foundation further explores the connection between Alzheimer’s disease and Down syndrome, including known biomarkers as well as challenges and practical considerations for clinical trials. The results are published in The Journal of the Alzheimer’s Association and call for further study on preventing dementias in individuals with Down syndrome with pharmacological and non-pharmacological interventions.
2019: National Institutes of Health (NIH) awards $35M in grant funding to advance research on Down syndrome through the Investigation of Co-Occurring Conditions Across the Lifespan to Understand Down Syndrome (INCLUDE) project
2019: LuMind IDSC establishes the Down Syndrome Clinical Trials Network (DS-CTN) to provide a system of associated medical clinics aligned to conduct large-scale, multi-site clinical trials and studies that accelerate understanding of health conditions associated with Down syndrome.
2017: LuMind IDSC funds planning efforts to establish a Down Syndrome Clinical Trials Consortium, focused initially on advancing Alzheimer's therapies for individuals with Down syndrome
2015: DSRTF becomes LuMind IDSC Foundation.
2014: Three different clinical trials (Phase II Roche study and two others) ongoing.
2014: Kennedy Krieger Institute at Johns Hopkins has launched 2 studies of the use of Alzheimers treatments for individuals with Down syndrome.
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.
2011: Formation of NIH Down Syndrome Consortium.
2008: Establishment of Linda Crnic Institute for Down Syndrome at the University of Colorado at Denver with $34 million grant to address basic research, clinical research and clinical care.
2007: Stanford study of Down syndrome mouse models noted 17 days of low-dose therapy with pentylenetetrazole (PTZ) produced normal learning behavior.
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.
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.
Medical Financial Assistance Resources
Be An Angel: Financial assistance to help provide adaptive equipment and special services to children with multiple disabilities.
Variety, The Children’s Charity of Texas: The Heart of Variety Fund provides financial assistance to children with special needs for anything that might empower that child to live a full life. Variety also serves thousands of children every year at Variety's Peaceable Kingdom Retreat for Children, a fully accessible retreat in the heart of the Hill Country for children with special needs.
Children’s Special Needs Network: Children’s Special Needs Network (CSNN) is a non-profit organization based in Belton that assists families and professionals in providing services for children (birth to 21 years old) in Central Texas who are diagnosed with physical or psychological special needs. CSNN provides a wide range of direct services and connects families with medical, educational, and social service resources in their communities—regardless of diagnosis, condition, age, income, or residence. Families must have valid insurance and diagnosis/diagnoses provided by ECI or a doctor.
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.