Down Syndrome Clinic

The Down Syndrome Clinic, a subspecialty program within the Division of Developmental and Behavioral Pediatrics, offers specialized services as well as interdisciplinary and comprehensive evaluations for children with Down syndrome and their families, providing care from birth through late adolescence. During your visit, you can expect to meet with a physician as well as a care team of experts from other therapy disciplines. The team is structured to meet the needs of your child and may grow over time. Clinic staff also work closely with children, parents, medical specialists, community physicians, community-based parent groups and educators to best care for and support your child before, during and after your initial visit.

 

Our Vision

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.

 

Our Mission

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.

Meet the Team

  • 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

Our Approach

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. We can provide evaluation, consultation, and treatment recommendations in a variety of areas:

  • Complex Medical Concerns: Certain health conditions associated with Down syndrome can cause complications. Our clinic may provide the following medical services to patients in an effort to help prevent or appropriately address such problems:
    • Medical consultation/targeted referral for specific concerns
    • Preventative medical screenings and recommendations
    • Comprehensive neurologic assessment and workup 
  • Speech and Language Therapy: Children evaluated and treated at our clinic may experience delays that can cause functional communication and behavioral difficulties. Our speech and language pathologist will develop a profile of speech, oral-motor, language and communication abilities, formulate recommendations to help maximize language and communication potential, and provide parent training.
  • Occupational Therapy: Occupational therapists facilitate fine motor and adaptive skill development, with an emphasis on general functional assessments, evaluations of arm and hand use, promotion of independent participation in daily living activities, and recommendations to address sensory processing and feeding differences.
  • Physical Therapy: Our physical therapist will provide a comprehensive assessment of motor skills with the goal of determining what specific therapies or adaptive equipment might best promote achievement of gross motor milestones. We can help with hoe programs and parent training.
  • Psychology, Behavior & Mental Health: Individuals with Down syndrome may experience different behavioral and mental health issues that vary by age. Our clinic is equipped to diagnose and treat many developmental and behavioral concerns such as attention concerns, autism spectrum disorder, mood or behavioral disturbances, etc.
    • Parent training, behavioral consultation and treatment are available for individuals with a wide range of behavioral challenges, including aggression or self-injury, tantrums and non-compliance, toileting skills, sleep problems, social adaptive skills, etc. 
    • We can identify strengths and weaknesses to help develop goals for your child’s individualized education program (IEP) to ensure an appropriate educational curriculum.
  • Nutrition & Feeding Support: We work with experienced dieticians and feeding therapists through other divisions at Lurie Children’s.
  • Audiology: Hearing loss frequently occurs in children and young adults with Down syndrome. Hearing loss in young children can potentially affect the development of speech and language, cognition, behavior, and social skills.
  • Others: Our social workers, nurses and psychologists are available to provide the following services, as necessary, in order to help families cope throughout their child's care plan: 
    • Mental health support 
    • Referral to parent groups and other community resources
    • Assistance with life-care planning and transition to adulthood
    • Individual and family counseling upon request
    • Patient-oriented group based therapies

 

Make an Appointment

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 5 to 18 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:

Please call 1.800.543.7362 (1.800.KIDS DOC) to initiate all referrals into the Down syndrome clinic. Once the referral has been entered, then the office staff will reach out to you to complete questionnaires. Appointments are scheduled after questionnaires have been completed. Prior to your appointment, we also encourage you to sign up for MyChart.

 

What to Expect at Your Appointment 

To help you prepare for your child's appointment with the Down Syndrome Clinic, download our informational sheet

Resources & General Information

National Down Syndrome Resources

National Down Syndrome Organizations

National Disability Organizations

Illinois Down Syndrome Organizations

Prenatal Information

  • “A Patient's Guide to Understanding Non-Invasive Prenatal Testing” | neobgyn.org
  • National Center for Prenatal and Postnatal Down Syndrome Resources | downsyndromediagnosis.org
    • A website with a resource directory for new and expectant parents learning about Down syndrome.
  • “Understanding a Down Syndrome Diagnosis” | lettercase.org
    • A booklet reviewed by representatives of national medical and Down syndrome organizations for patients first learning about a prenatal diagnosis of Down syndrome.
  • “Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome” | downsyndromepregnancy.org
    • A book and website with detailed information for new and expectant parents anticipating the birth of a child with Down syndrome.
  • “Planning for a Loving Future” and “A Loving Choice: Making an Adoption Plan” | ndsan.org
    • Pamphlets and website for parents considering placing their child for adoption.
  • Brighter Tomorrows | brightertomorrows.org
    • A website for both new and expectant parents.
  • “Facts about Down Syndrome” Center for Disease Control and Prevention (CDC) | cdc.gov
    • A website with facts about Down syndrome.

Books Publications

  • “Babies with Down Syndrome,” Edited by Susan J. Skallerup | woodbinehouse.com
    • An extensive book for new parents
  • “Gifts: Mothers Reflect on How Children with Down Syndrome Enrich Their Lives" | woodbinehouse.com
    • Book with personal essays and quotes by new and expectant parents.
  • “What Parents Wish They’d Known: Reflections on Parenting a Child with Down Syndrome,” Ed. by Kathryn Soper | ndsccenter.org
  • New Growth Charts for Children with Down Syndrome, 2015 | cdc.gov
  • Health Care Guidelines for Providers | aap.org
  • Health Care Information for Families of Children with Down Syndrome, American Academy of Pediatrics | healthychildren.org
    • Guidelines focused on recommended healthcare and treatment.

Specific Issues of Concern

  • Advocacy:
  • Down syndrome through the lifespan | NDSS
    • Links to information about health care and research, economic self-sufficiency, community integration, education, employment, etc.
  • Health Care Information for Families of Children with Down Syndrome | AAP
    • Checklist for parents
  • Early Intervention | NDSS

Additional Recommendations for Interested Families

  • Initial connections after birth
    • Contact Early Intervention to initiate supportive services
    • Join the Down syndrome program at Lurie Children’s and set up your first appointment
    • Join DS-Connect – Patient registry
    • Connect with local parent groups – in person AND online groups available
    • Apply for Supplemental Security Income (SSI)/ Medicaid insurance
  • Once you are settled in a bit…
    • Connect with statewide parent organizations and advocacy
    • Connect with national organizations for information
    • Participate in local conferences or parent workshops
    • If interested in research, look into options through the NIH
    • Most importantly, enjoy your little one!

Philanthropy

Your support is vital in helping us continue to make a difference in the lives of patients and families. Lurie Children’s relies on philanthropic funding to enhance its programs, services and research for children. To learn more, please e-mail the Ann & Robert H. Lurie Children’s Hospital of Chicago Foundation at foundation@luriechildrens.org or call 312.227.7500