We are happy to announce that Dr. Jessica Klusek and PhD candidate Thomas R. Christensen have recently contributed to a research article titled “Comprehensive, multidisciplinary care for fragile X-associated tremor/ataxia syndrome” along with co-authors Bourgeois, Schneider, Levin, Gardner, Jacobi, and Hagerman.

Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative condition that many FMR1 premutation individuals develop later in life, results in complex symptoms that require comprehensive attention and care. The time of onset and the clinical expression of symptoms for this condition vary, and it is important to observe and address each aspect of the condition to achieve successful support outcomes at all stages of illness progression.

The authors outline a variety of FXTAS symptom management strategies. Recommendations are provided regarding medical management, genetic counseling, clinical/neurological evaluations, speech-language pathology, and social strategizing for FXTAS patients. The authors emphasize that these implementations should be made in tandem for the individual to receive the best possible care and that a patient-centered model is critical to accomplishing their goals.

The objective of these clinical recommendations is ultimately to preserve the comfort and quality of life for these patients. Some precautions can be taken as soon as the condition is recognized to prevent deterioration as much as possible, and others can be taken further into an individual’s life to address existing issues in a way that suits them best. FXTAS can greatly debilitate a person physically, cognitively, and emotionally, so it is imperative for each step of the therapeutic process to address a patient’s needs.

To read the full article, click here!