Down Syndrome Clinic

A world where all individuals with Down syndrome are fully included and integrated into society and seen as valued members of our communities.

A world where all individuals with Down syndrome are provided with the support needed to reach their full potential and engage at the highest possible capacity in family, school and community life.

To evaluate and offer evidence-based care recommendations for each unique patient with Down syndrome according to his or her specific needs, focusing on medical comorbidities, cognitive and neurodevelopmental concerns, behavioral and mental health needs, and educational, vocational, and social challenges. To promote education about the issues that are important to individuals with Down syndrome, ranging from prenatal testing and counseling to the myriad of medical and developmental concerns that may arise throughout the lifespan. To promote research endeavors geared towards better understanding the medical and developmental consequences of trisomy 21, with the ultimate goal of positively impacting the lived experience of individuals with Down syndrome.

With medical advances, children with Down syndrome survive and thrive well into adulthood and beyond. While the initial primary focus tends to be on assuring that all medical issues are being appropriately addressed during infancy, as children with Down syndrome age, they may experience varying degrees of challenges with language development, hypotonia and gross motor delays, and cognitive or learning issues. Some children may also experience secondary impairments due to problems with sleep, behavioral and emotional issues, or other health conditions. Our team is here to assist families in assuring that supports are in place to address these challenges and, and to help with navigation through the complex health care, education, and early intervention services.

• Board-certified pediatrician and child neurologist
  
  • Meghan E. O’Neill, MD
    • Dr. O’Neill is a board certified child neurologist and pediatrician, specializing in the care of children with complex neurodevelopmental disabilities. She graduated from the University of Notre Dame and completed medical school at the Johns Hopkins University School of Medicine. She completed a three-year general pediatrics residency at Lurie Children’s and then returned to Johns Hopkins and the Kennedy Krieger Institute in Baltimore, MD where she completed a four-year combined residency/fellowship in Neurodevelopmental Disabilities. Dr. O’Neill sees patients in the division of child neurology and the division of developmental and behavioral pediatrics and Lurie Children’s. She specializes in the care of individuals with Down syndrome, intellectual disability, autism spectrum disorder, ADHD, cerebral palsy, and a variety of neurobehavioral and neurogenetic disorders. In addition to clinical care, she is working to develop a research program through the Down syndrome clinic, with the goals of characterizing medical, developmental, and behavioral profiles of children with Down syndrome and exploring interventions and therapeutic strategies that might benefit individuals with Down syndrome.
    • “My goal is to provide support, advice, and a listening ear to every individual child with Down syndrome and every family I am privileged to work with through our Down syndrome clinic at Lurie Children’s. I hope to assist children and families in navigating the complex systems of health care, education, and community services not only to ensure optimal medical care and developmental outcomes, but also to enhance quality of life and functioning in the home, at school, and in the community. On a more global scale, through professional activities, education, and advocacy, I hope to promote the reframing of how our society views Down syndrome and disability in general. I believe we need to shift our perspective from viewing those with disabilities as “deficient” and instead move toward a greater acceptance of neurodiversity with societal celebration and support of these developmental differences.”
    • Favorite quote: “Some luck lies in not getting what you thought you wanted but getting what you have, which once you have it you may be smart enough to see is what you would have wanted had you known. ” ― Garrison Keillor

• Speech therapists
  • Elise O’Brien, SLP
• Occupational therapists
• Physical therapists
  • Stephanie Fitzsimmons, PT
• Nurse practitioners
• Psychologists
• Social workers
  • Emily Mehta, MSW
• Nurses
• Dedicated office staff

We have several different visit types to ensure that individuals with Down syndrome receive age appropriate care.

Prenatal Services

In collaboration with The Chicago Institute for Fetal Health through Ann & Robert H. Lurie Children’s Hospital of Chicago, we offer confidential prenatal consultation for families who receive a prenatal diagnosis of Down syndrome. Parents who receive a prenatal diagnosis are given an opportunity to meet and talk with a developmental pediatrician about Down syndrome and ask questions.

Whether or not you opt for a visit at The Chicago Institute for Fetal Health, we welcome you to join the clinic after the baby is born. Please contact the Lurie Children’s Division of Developmental and Behavioral Pediatrics for more information on the Down syndrome clinic.

Infant Appointments

Families of newborns or young infants are welcome to come in for a "new baby visit" with one of our providers, and if desired, with a physical therapist as well. The physician will review medical history, discuss development, and answer any questions the family may have.

Interdisciplinary Infant and Toddler Appointment  

This clinic for children from 12 months to 5 years provides a comprehensive evaluation using an interdisciplinary team approach, usually with speech, occupational, and physical therapy. These visits are held on Monday afternoons several times a month. This consists of a two hour appointment during which the physician and therapist team evaluates the child at once. Children are typically seen in this clinic once to twice yearly. 

Individualized Visits for Children and Teens

For children ages 0 to 11 years, we offer an individualized approach. We provide a comprehensive developmental pediatrics/neurology visit on an approximately annual basis or more often as needed depending on the child’s needs. We have several designated relationships with subspecialty providers who have a special interest in Down syndrome, so the referral process for this is straight-forward. We can also work to coordinate same-day visits or co-visits with therapists in our division. This is individualized for each family based on individual needs and desires. We work with each family to make their visits as efficient and accommodating as possible.

Specialty Referrals

During the visit to the Down syndrome clinic, your physician might discuss with you the need for other specialty providers to be involved in your child’s care. If your child is followed by a specialist elsewhere, you can certainly continue care with that provider. The following is a partial list of providers that are available through Lurie Children's:

• Gastroenterology
• Cardiology
• Endocrinology
• Pulmonary/Sleep Medicine
• Otolaryngology/ENT
• Nephrology
• Orthopedics
• Dermatology
• Dental
• Psychiatry
• Neuropsychiatry

COVID-19 Resources

• Vaccinations for Home Caregivers

National Down Syndrome Resources

• General Resources:
  • National Down Syndrome Society
  • National Down Syndrome Congress
  • International Mosaic Down Syndrome Association
  • Adoption Resources
    • National Down Syndrome Adoption Network 
• Educational Resources:
  • Down Syndrome Education USA
  • The Allen C Crocker Speaker Series through Boston Children’s Hospital
• Research Resources:
  • NIH Down syndrome Research
  • Jerome Lejeune Foundation
  • Global Down Syndrome Foundation
  • Lumind Foundation
  • Patient Registry: DS-Connect
    • DS-Connect, sponsored by The National Institutes of Health (NIH), is a voluntary registry for families who want to participate in research opportunities, receive updates on research initiatives, and be included in the collection of data about Down syndrome.
    • Research on cognition and health can also greatly improve outcomes for people with Down syndrome in the future.