Trisomy 21 Program at CHOP

Mission Statement:

Established June 2002 to help the 4,000 in the Delaware Valley with Trisomy 21 / Down Syndrome benefit from the best medical care and information. The Trisomy 21 Center at Children's Hospital of Philadelphia will include:

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Trisomy 21 is the most frequently occurring chromosomal abnormality, found once every 800 to 1,000 live births. More than 350,000 people in the United States have Down syndrome. The diagnosis of Trisomy 21 presents a number of challenges for patients and families that can be overwhelming. Children with Trisomy 21 are at higher risk for congenital heart disease, gastrointestinal abnormalities, endocrinologic disorders, epilepsy, musculoskeletal issues that affect motor abilities, hearing loss, speech apraxia, sleep disorders, feeding disorders and developmental disabilities including learning disabilities, mental retardation and autism. Deficits in any of these areas can adversely affect the child's development and  adaptive behavior. Thus, in order to assess development and behavior, it is necessary to review both medical and developmental aspects of each child.

Overview

Established in March 2003, the goal of The Children's Hospital of Philadelphia Trisomy 21 Program is to establish a multidisciplinary team approach for the clinical assessment and ongoing treatment of neurobehavioral health needs of children and young adults with Trisomy 21. Our program is designed to support the individuals, their families and healthcare teams by providing educational material, healthcare collaboration and a comprehensive review of developmental, behavioral, educational, psychosocial and medical issues prevalent to individuals with Trisomy 21.

Initial Appointments

An appointment at the Trisomy 21 clinic first involves eliciting your concerns about your child. Then, the physician will review your child's history, including any current or past medical problems, developmental and behavioral issues, and their educational placements and therapies. The physician will also be sure that your child is up-to-date on all testing recommended specifically for children with Trisomy 21. The second part of the evaluation involves developmental testing and a physical examination. The doctor will also review any recent testing your child has had. Finally, the doctor will discuss his or her findings with you and make recommendations for any further testing, therapies or educational programming that the evaluation supports. Our adult patients are evaluated through Children's Hosptial's Division of Neurology where the focus is on the neurological status of adults with Trisomy 21. During this visit, the patient's medical history will be reviewed and the physician will make sure all recommended testing for individuals with Trisomy 21 have been addressed. New neurological problems will be evaluated as they arise.

Our Services

In addition to developmental behavioral pediatrics and neurology, the Trisomy 21 Program at The Children's Hospital of Philadelphia has access to a numerous subspecialties throughout the Hospital. Referrals are made based upon findings during an evaluation at the Trisomy 21 clinic.

Professional Training

The Children's Hospital of Philadelphia is a teaching institution. We feel strongly that pediatricians in training need to learn about the needs of children with Down syndrome. Fellows training in developmental behavioral pediatrics or the clinic's nurse practitioner may see your child initially, but will be supervised by the developmental-behavioral pediatrician or neurologist. Other health professional trainees may also be observing our doctors in the Trisomy 21 clinic.

Research

Future progress in our understanding of Trisomy 21 requires the development of research into its biologic basis, its medical and neurodevelopmental consequences and effective interventions. In addition to sponsoring research, the Trisomy 21 program at Children's Hospital will stay abreast of ongoing research that could benefit your child.

Team Members:

Program director
David Lynch, MD, PhD

Clinical director
Mary Pipan, MD

Program coordinator
Kim Schadt, RN, BSN, CCRP

Nurse practitioner
Rosemary Eikov, RN, MSN, CRNP

Developmental pediatrician
Hillary Kruger, MD
Tahira Adelekan, MD

Developmental-behavioral pediatrics fellow
Patty Huang, MD

Director of community education
Symme Trachtenberg, MSW

Occupational therapist
April Andrescavage

Physical therapist
Helen Milligan, MPT

Family consultant
Dorothy Brightcliffe, RN

Medical secretary
Rita McGeever

For appointments or more information: