Date of Award
Thesis - Open Access
Hereditary neuropathy with liability to pressure palsies (HNPP) and Charcot-Marie- Tooth Disease type 1A (CMT1A) are autosomal dominant hereditary neuropathies caused by different mutations in the PMP22 gene. The chronic features of CMT1A and HNPP are almost identical, leaving electrodiagnostic testing to assess nerve conduction as the vital distinguisher between these two diagnoses. Differing onset, duration and recovery, as well as genetic testing, can also help distinguish the diagnosis. Patients with CMT1A often have chronic and progressively worsening symptoms, whereas patients with HNPP experience transient, acute symptoms that may or may not be associated with pain and with possible milder and later onset chronic progressive symptoms. The intent of this study is to address the hypothesis that the intermittent pattern of symptoms is the reason for worse QOL observed in HNPP patients as compared to CMT1A, as well as to establish other potential reasons behind differing perceptions in quality of life between CMT1A and HNPP patients. A questionnaire consisting of nine Likert scaled questions, four binary questions, and four questions with an open-ended component was distributed to hereditary neuropathy associations and support groups. A total of 287 individuals with CMT1A and 84 individuals with HNPP completed the survey. Data analysis was performed using the “R” platform for statistical computing and subsequent application of Welch's Two- Sample T-Test. Our results support an argument in opposition to the original hypothesis, concluding that CMT1A and HNPP patients with chronic symptoms spend more time worrying about their symptoms, thereby negatively impacting their QOL. There are many confounding medical, social and psychological factors associated with chronic disease and pain that could be the true reason behind worse QOL reports. Further research using quality of life assessments, taking into account patient demographics and ascertainment biases, can guide how healthcare providers, including general practitioners, genetic counselors and rehabilitative specialists, modify patient management throughout the diagnostic and treatment processes in order to improve quality of life in this population.
Walsh, Caitlin and Rodriguez, Sophia, "An Investigation Into The Reasons Behind Quality Of Life Perception In Individuals With HNPP As Compared To Individuals With CMT1A" (2020). Human Genetics Theses. 83.
Under author imposed embargo.
Available for download on Saturday, January 08, 2022