George A. Jervis Clinic

IBR's George A. Jervis Clinic offers specialized diagnostic and consultative services for children, adolescents, and adults with intellectual and/or developmental disabilities.  The Clinic's multidisciplinary team of physicians, psychologists, nurses, and social workers conducts intensive diagnostic procedures and develops a treatment plan for people with developmental disabilities that primary care physicians have not been able to diagnose or treat, such as seizure or behavioral disorders.  Staff also conduct clinical research and provide education in improving the diagnosis and treatment of developmental disabilities.

Services Offered

• Neurological examination and evaluation
• Genetic evaluation, testing, and counseling
• Early screening and neurodevelopmental follow-up
• Developmental Behavioral pediatrics evaluation
• Autism evaluation
• Fragile X evaluation
• Batten disease evaluation
• Consultation for management of uncontrollable seizures
• Psychiatric and behavioral evaluations, including recommendations for psychotropic medications for people displaying self-injurious, aggressive and other challenging behaviors, or signs of dementia
• Psycholinguistic evaluation
• Neuropsychological evaluation
• Psychological testing (in combination with diagnostic evaluation)
• Other specialized tests including EEG or EEG with video monitoring; BAER and EMG; Muscle and skin biopsy; and biochemical, molecular and cytogenetic tests.

Any person with a developmental disability or who is suspected of having one and who has been seen by a specialist who feels that the patient would benefit from our services requiring further evaluation is eligible to receive services at the Clinic.

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.

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.

The Fragile X Center is a specialty center at IBR’s George A. Jervis Clinic for individuals with fragile X syndrome and their families. The Jervis Clinic is a specialized diagnostic and research center, providing neurological, psychiatric, psychological, and genetic services to individuals with developmental disabilities. Fragile X is a priority area of research for Institute scientists and clinicians.

Services Offered

• Genetic evaluation and counseling
• Genetic and prenatal testing
• Medical evaluations, including:
  • Psychiatry
  • Medication review and recommendations
  • Developmental Behavioral Pediatrics
  • Neurology
• Psychological evaluations, including:
  • Speech and language
  • Neuropsychology
  • Behavioral support
• Other services, including:
  • Educational consultation

Evaluations at the Fragile X Center

Individuals referred to the Fragile X Center are seen by several clinicians to complete the comprehensive evaluation. Additional appointments will be recommended as necessary. Services will be ongoing, offering a continuum of care over the life of the individual. While at the Center, parents will be provided with appropriate resource materials and information about fragile X syndrome.

Referrals

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

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.
   

The Jervis Infant Clinic is a program for early screening and neurodevelopmental follow-up.  In collaboration with IBR’s Departments of Human Genetics and Infant Development and hospitals in Staten Island, it currently provides screening for fragile X syndrome at birth. The screening is done after consent is signed by the patient’s mother. 

Families of babies found to be at risk for developmental problems based on their screening are invited to come for an initial visit at the Jervis Clinic, where genetic counseling and confirmatory tests are done. 

Babies with fragile X syndrome full mutation or premutation are enrolled in a developmental follow-up program specifically developed for these infants. They will receive evaluations by a developmental specialist, feedback about their child’s development, suggestions for activities to facilitate their child’s development, parent training, and referrals to early intervention programs as indicated. 

The program is in the process of further development and is planned to involve additional New York hospitals and additional disorders associated with developmental disabilities.