- Patient Care
Here at the University of Pennsylvania Huntington's Disease Center, we provide the following services:
The neurologist in our HD multidisciplinary team helps develop an overall treatment strategy incorporating recommendations from all providers. The neurologist also specifically addresses symptoms that affect movement and coordination. This evaluation includes assessment and treatment of involuntary movements such as chorea, coordination, and gait difficulties or symptoms related to speech and swallowing, among others. A discussion of potential clinical trials or research studies that the patient might be eligible for is also included in this evaluation.
The psychiatrist provides care for symptoms related to mood changes, depression, irritability, or behavioral symptoms that might be present in our patients. The clinical evaluation includes identification of the symptoms that affect the patient's quality of life and the design of a treatment strategy to address them. Recommendation for treatment might include medications, psychotherapy ("talk therapy"), or both.
The Nurse Clinical Coordinator and Research Nurse is the primary point of contact for the HDSA Center of Excellence for patients, families, outside health care professionals and Pennsylvania Hospital’s HD Interdisciplinary Health Care team. She coordinates the weekly HD clinics, and assists families with problem-solving in the daily management of HD and issues that arise between clinic visits, such as new or changing motor, psychiatric, and cognitive symptoms, collaborating with HD team members, ancillary departments, and external facilities where our patients receive care as needed. As the Research Nurse, she acts as a resource for current studies at the Center, providing information and performing study activities, including recruitment, administration of study components, and maintaining statistical data. She assists with coordination of community educational programs and outreach to families and health care professionals.
Genetic testing for Huntington's Disease (HD) is a process that involves much more than just getting the results of a lab test. This process includes considering social, emotional, financial, and familial implications of proceeding with genetic testing for HD. The actual testing is not complicated; whether it is a saliva sample or blood sample, the actual DNA test itself will be taken and sent to a laboratory where the genetic testing will be performed. However, the emotional considerations of pursuing testing can have significant implications.
A genetic counselor works with individuals in both predictive and diagnostic settings to ensure that the patient and family members are supported and informed through the process. The first visit includes a discussion with a genetic counselor, a neurologist and if needed a mental health professional. Genetic counselors are non-directive and non-judgmental and work to make sure a patient is making an informed decision about their healthcare. By discussing the issues with a genetic counselor, individuals, as well as their family members, can make informed decisions about whether or not testing is right for them at this time.
Genetic testing can be used for:
- Predictive/pre-symptomatic testing (if the individual does not have symptoms of HD yet)
- Diagnostic testing (the individual is starting to show some signs of HD)
Neuropsychology is a sub-specialty within psychology focused on the standardized assessment of cognitive function in relation to specific neurological disorders. Services are focused on the assessment of cognition in individuals at various stages of Huntington’s Disease. Cognitive functions assessed include attention, processing speed, learning/memory, language, visual perception, and executive functioning. We provide information about cognition and affect/mood to help determine the best treatment options for individuals with HD. We provide recommendations for issues such as driving, the possible need for supervision, accommodations (educational and/or vocational), disability applications, cognitive therapy, and psychological treatment.
The physical therapist evaluates walking, balance, coordination, and then provides recommendations to individuals with HD to maximize their safety and independence with functional mobility. An appropriate exercise regimen is important in all stages of the disease. The physical therapist will recommend an exercise regimen tailored to the individual. An exercise program for individuals with HD is usually geared to improve/maintain cardiovascular fitness and to capture the neuroprotective benefits of exercise, with the goal of slowing disease progression and maintaining function.
Our Occupational Therapist (OT) provides training and education in the use of strategies and adaptive aids to support independence and safety for individuals with Huntington’s disease. The OT collaborates with PT and SLP to determine needs to support safety and independence in daily living tasks. In addition, the OT provides education on strategies to support overall wellness and quality of life.
The Speech-Language Pathologist (SLP) will interview you and your family to find out about any difficulties you have with swallowing or communication. The SLP will complete a clinical swallowing evaluation and discuss with you and your family some ways to compensate for difficulty eating, such as diet modification and behavioral strategies. Additional instrumental swallowing assessment with an SLP may be recommended. The SLP will also assess communication and provide strategies to enhance communication.
The Social Worker for the HD Center offers information, education, and access to community-based services and assists in developing resources for HD families. Collaboration with our interdisciplinary team is done to evaluate patients' needs. The Social Worker advocates for patients and intervenes in crisis situations. Counsel and support are offered on things such as home healthcare, disclosure of condition to an employer, Medicaid/Medicare, and SSI/SSDI applications. Support groups are organized to assist HD families in understanding and coping with the condition. The Social Worker also provides in-services to long term care facilities where persons with HD reside to strengthen the continuity of care between the HD Center and the facilities.