Families should expect to receive a comprehensive evaluation for their child or children with Batten disease when they visit the Batten Disease Diagnostic and Clinical Research Center at the University of Rochester. The visit will begin in the morning with a comprehensive medical history obtained by a Nurse Practitioner in Child Neurology. Results of previous diagnostic testing and treatments will be reviewed. A Child Neurologist will perform a complete physical and neurological examination. The UBDRS and other appropriate rating scales will be administered.

The cognitive and behavioral difficulties experienced by many children with Batten Disease can have a significant impact on their day-to-day functioning. Understanding a child’s cognitive and behavioral needs and adapting their environment accordingly may help reduce frustration. The Batten Disease Center will offer neuropsychological and behavioral assessment to help clarify your child’s pattern of cognitive strengths and weaknesses, and develop recommendations for educational services and behavior management. Neuropsychological assessment is available to all children who are able to provide verbal responses to questions - vision is not required to complete the assessment. Children who are able to participate in neuropsychological testing will receive a brief (20-30 mins maximum) assessment of cognitive abilities, including attention, memory, and language skills. In addition, the neuropsychologist will meet with parents to discuss their specific concerns about their child’s learning and behavior. Parents will receive a written report that summarizes test results and recommendations. Educational consultation is also available, including review of school records, providing schools with information on Batten Disease, and assisting schools with planning their own evaluations and services for the child with Batten’s. Follow-up assessment is also available to track changes over time and help adjust services as needed.

Evaluation by other health care professionals will depend on whether necessary evaluations have been done previously and on the parents’ wishes. These could include evaluation by a Pediatric Ophthalmologist or other Pediatric specialists and a visit with a genetic counselor. If the diagnosis has not yet been confirmed, genetic testing will be offered and other recommended diagnostic testing will be arranged either at the University of Rochester or at a medical center near the family’s home. If the diagnosis is confirmed after the visit to the center, genetic counseling will be arranged at a medical center near the family’s home if desired.

Upon conclusion of the evaluation, a formal report will be prepared and sent to the patient’s primary care physician and to the patient’s family.

A major goal of the center is to conduct clinical research on Batten disease. Therefore, current research protocols will be discussed prior to the visit and each family will be given the opportunity to participate in our research. However, participation in research is not a requirement to be evaluated at the center.

Reimbursement will be sought from the patient’s insurance provider for the clinical components of the evaluation. Our office will assist in securing required referrals and authorization from insurance providers. There will be no charge for the research components.

Travel and Lodging

The University of Rochester is located in Rochester, NY. The following airlines service the Greater Rochester International Airport:

Air Canada
Air Tran
American
Continental
Delta
Independence Air
Jet Blue
Northwest
United
US Airways

Since most patients will be coming to the center from outside of western New York, a visit to the Batten Disease Diagnostic and Clinical Research Center will entail an overnight stay in Rochester and up to a full day of evaluation. Lodging can be arranged at the Ronald McDonald House or at a nearby hotel depending on the family’s preference. Our staff will assist with lodging arrangements.

Ronald MacDonald House- cost $10 per day. A shuttle is available for transportation to the Medical Center 4 times a day at 9:15 am, 12 noon, 1 pm and 7 pm. Reservations must be scheduled through our office at (585) 275-4762. The house is located several blocks from the Medical Center.
Unified Batten’s Disease Rating Scale (UBDRS) Project
University of Rochester Medical Center

 

 

Clinical Evaluation

 

 

 

 

 

 

 

 

 

 

 
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