Program for the Study of Neurodevelopment in Rare Disorders (NDRD)

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.

NDRD Program Services

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 :

  • Neurodevelopmental assessments
  • Comprehensive physical and neurological exams, including interpretation of clinical testing
  • Hearing evaluations
  • Speech and language
  • Educational testing
  • Nutrition and feeding
  • Motor testing
  • Cognitive testing
  • Medical Imaging
  • Neurophysiologic testing
  • Medical treatment for seizures and spasticity
  • Advice about individualized education plans (IEPs)

Management recommendations include:

  • Adaptive equipment
  • Augmentative communication
  • Visual and hearing aids
  • Behavioral interventions

Learn more with these resources and downloads. 

Referral Requirements

To make an appointment or inquire about the program, please call 412-692-6350.

Additional Information



Clinical Studies

  • Program for the Study of Neurodevelopment in Rare Disorders (NDRD)

    UPMC Children's Hospital of Pittsburgh
    4401 Penn Ave
    Floor 4
    Pittsburgh, PA 15224
  • Krabbe Disease and Motor Impairment Identification Using MRI

    DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment

    Read more

    Krabbe Disease Progression Study

    The Natural History of Infantile Globoid Cell Leukodystrophy

    Read more

    Metachromatic Leukodystrophy Progression Study

    Natural History Study of Children with Metachromatic Leukodystrophy

    Read more

    Neurodegenerative Disorders Study

    Longitudinal Investigation of Neurodegenerative Disorders in Children

    Read more