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Read the video transcript.
The Program for the Study of Neurodevelopment in Rare Disorders (NDRD), part of Children’s Hospital’s Brain Care Institute, is committed to helping families search for answers surrounding their children’s rare disorders. Started in 2000 to improve the understanding of these genetic neurodegenerative diseases, the program has performed more than 1,500 standardized evaluations on more than 500 children.
As of July 2013, the NDRD has had patients from 47 of 50 of the United States and from 27 countries.
Our goal is to improve the quality of life for children with rare neurodegenerative disorders through education, innovative research, and clinical interventions. Our multidisciplinary approach focuses on the interactions of genes, the brain, and behavior and their effects on child development.
The NDRD also trains investigators and clinicians in the diagnosis and comprehensive management of these disorders, and builds awareness throughout the general population and the scientific community.
At the NDRD Program, we offer educational interventions, medication management, therapy, and recommendations for adaptive equipment. Our primary goal is to improve the quality of life for children with rare disorders and to help them develop to their full potential.
Maria Escolar, MD, and her team provide ongoing services for more than 500 patients with rare metabolic disorders from across the country. This experience, combined with ongoing clinical research, provides the expertise to assess the multisystem needs of these children and to plan appropriate management, therapies, and palliative care when needed. The NDRD team also consults with local health care providers and educators to assist them in providing care to children with these rare diseases.
Assessments provided by the NDRD Program include:
Management recommendations include:
Learn more with these resources and downloads.
Learn more about the NDRD staff.
To make an appointment or inquire about the program, please call 412-692-6350.
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Clinical Studies
DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment
The Natural History of Infantile Globoid Cell Leukodystrophy
Natural History Study of Children with Metachromatic Leukodystrophy
Longitudinal Investigation of Neurodegenerative Disorders in Children
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh One Children’s Hospital Way 4401 Penn Ave. Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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