The "Deep cognitive and behavioral phenotyping of patients with Dystrophinopaties" dataset encompasses comprehensive results focused on understanding the prevalence and nature of brain-related behavioral and cognitive comorbidities in individuals diagnosed with dystrophinopathies. Dystrophinopathies, primarily characterized by muscular dystrophy, often have accompanying neurological components, the exploration of which is the central aim of this dataset.
This dataset is derived from responses collected via online survey platforms (REDCap and DAWBA) and from face-to-face neuropsychological assessments performed in clinic.
The respondents in online-based questionnaires consist of individuals diagnosed with dystrophinopathies, or their caregivers, providing firsthand information on their experiences and health status. Neuropsychological data is derived from face-to-face assessment of patients.
The primary objective of this dataset is to provide researchers and healthcare professionals with insights into the behavioral and cognitive aspects of dystrophinopathies. It aims to assist in the development of comprehensive care strategies, inform clinical practices, and contribute to ongoing research in neuromuscular disorders. The data is invaluable for epidemiological studies, for understanding patient experiences, and for shaping future therapeutic interventions.
The dataset is structured in a mixed (questionnaires + neuropsychological tests results) format, with each entry representing an individual respondent. It includes both quantitative and qualitative data, encompassing multiple-choice questions, rating scales, open-ended responses and performance results in cognitive tasks or tests.
Major attributes include demographic information (age, gender, location), diagnosis details, mutation site (according to four different groups: exon ≤ 44, group 1; exon 45-50, group 2; exon 51-62, group3; exon >= 63, group 4),
neurocognitive, behavioral and psychiatric symptoms reported, severity and frequency of these symptoms, current treatment regimens, and performance in multiple cognitive tasks and tests.