Office for People With Developmental Disabilities

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The Batten Disease Center

07/18/12

About

The Batten Disease Center is a specialty center at IBR’s George A. Jervis Clinic for individuals with Batten disease, or neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative disorders of childhood, characterized by mental impairment, seizures, and progressive loss of sight and motor skills. The Jervis Clinic is a specialized diagnostic and research center, providing neurological, psychiatric, psychological, and genetic services to individuals with developmental disabilities.

The Batten Disease Center consists of a clinic, diagnostic laboratories, and a research program that address Batten disease.

Clinical Services Offered

  • Medical evaluations, including:
    • Genetic evaluation and counseling
    • Neurology—Epilepsy management
    • Psychiatry—Medication review and recommendations
  • Laboratory services, including:
    • Electron microscopy testing for lysosomal inclusions (for all types of NCL)
    • Enzyme activity testing: TPP1 activity (for the Late Infantile type)
    • DNA mutation testing: CLN3 common mutation (for the Juvenile type)

Since 1998, IBR staff have evaluated more than 100 patients with suspected Batten disease annually.

Research Program

Batten disease has been a priority area of research for Institute scientists and clinicians. IBR is one of the few centers in the United States that performs complex clinical studies and research (clinicopathologic, biochemical, and molecular genetic studies) on Batten disease. Through the research program, new methods for diagnosing and eventually treating Batten disease are being developed. IBR scientists developed the first non-invasive diagnostic test for the late-infantile and juvenile forms of this group of disorders.

Batten Disease Registry - IBR is the home of the Batten Disease Registry, which collects data on all NCL cases in the USA and some foreign countries. Over 1200 patients with Batten disease of most types are enrolled in the Registry. The Cell Culture Repository established at IBR houses the largest collection of fibroblasts and long lymphocytic cell lines from individuals with Batten disease and their families in the United States. These cells are distributed to researchers from both the United States and other countries to study the cause of this disease and to develop potential therapeutic strategies.

This recent article in ADVANCE for Nurses details the symptoms, diagnosis, and treatment of Batten disease as well as research efforts in this area: Battling Batten Disease—ADVANCE for Nurses.

Referrals

Appointments for evaluations at the Batten Disease Center of the George A. Jervis Clinic are scheduled on the basis of individual needs. Referrals to the Batten Disease Center are generally made by physicians, educators, social workers, and other professionals caring for individuals known or suspected to have Batten Disease.

To request Batten Disease Center services from the Jervis Clinic:

Call Ms. Lorie Rivera at (718) 494-5313.

Payment

The Jervis Clinic is dedicated to serving the people of New York State with developmental disabilities, regardless of their ability to pay. Except for individuals from OPWDD-certified providers, reimbursement for any diagnostic, clinical, or laboratory service will be sought from the following:

  • Most third-party insurance carriers
  • Family/guardian, on a zero-basis sliding fee scale, or
  • The individual, through direct billing.

For further information, or to request referral forms, contact either:

Ms. Lorie Rivera:
Call: (718) 494-5313
Fax: (718) 494-2258

Or

Dr. Milen Velinov:
Call: (718) 494-5219

Write: Dr. M. Velinov
George A. Jervis Clinic
IBR
1050 Forest Hill Road
Staten Island, NY 10314

Travel directions to IBR