An Assessment of the Knowledge, Attitudes, and Practices of Patients and Families with Diagnoses of Hereditary Neuromuscular Disorders

Abstract

Background: Hereditary neuromuscular disorders (NMDs) result in progressive disability with no definitive disease modifying treatments. There is a delay in diagnosis, and lack of awareness among affected individuals about these disorders, which can affect quality of life of patients. Objective: The aim of this study is to identify gaps in patient knowledge, factors affecting attitudes toward the diagnoses, and specific practices to create better awareness among patients and healthcare providers to improve care and overall outcomes. Methods: This is a cross-sectional study of 130 patients diagnosed with an NMD, recruited from the outpatient neurology clinics at the Aga Khan University Hospital. After telephonic consent, a 28 item survey questionnaire was administered. Knowledge, attitude, and practice scores were measured. Results: One hundred and thirty of 198 study participants responded. The average age was 26.3 years; 75% were male. More than 38% (n = 50) had a middle grade or less education. The average knowledge, attitude, and practice scores were 7.9, 2.7, and 3.8 respectively. There was a low but statistically significant correlation between knowledgeattitude and attitude-practice scores. Almost 80% of respon-dents believed that dystrophy or spinal muscular atrophy is curable, while a majority considered that physical activity should be avoided. Conclusions: Our study presents new insights into the role of clarifying misconceptions about NMD and to correct attitudes among patients, their families and communities. It underscores the need for early interventions with demonstrably positive effects on disease progression such as physical therapy, as well as emphasizes the provision of accessible and affordable centers for such services.

Spinal muscular atrophy: health related quality of life and burden to parents

“…Most parents reported that understanding SMA was one of the difficulties faced after diagnosis confirmation. This difficulty was previously described not only by parents of individuals with SMA 13 but also by caregivers of children with Duchenne and Becker Muscular Dystrophy 14 and Autism Spectrum Disorder (ASD) 15 . Specifically regarding SMA, there is insufficient knowledge of its characteristics which can have consequences for the affected individuals and their families.…”

Psychosocial Basis of Human Sufferings and Poverty in Patients with Neurological and Psychiatric Disorders

“…This evidenced by the diseases with initial psychological/behavioral issues later mingled with neurological ailments, reflecting and at the same time enforcing the basic need for understanding of the complete spectrum of the disease under neuropsychiatric conundrum. [46][47][48][49] Families with genetically triggered psychological issues have every chance of heralding neurological ailments and vice versa. An overlapping spectrum of neurological and psychiatric issues harboring several genetic correlations underneath, only visible by its finer sense, reflects the two sides of a similar disease conundrum.…”

“…An overlapping spectrum of neurological and psychiatric issues harboring several genetic correlations underneath, only visible by its finer sense, reflects the two sides of a similar disease conundrum. [45][46][47][48][49]…”

Duchenne Musküler Distrofide Pediatri Uzmanları ve Pediatri Uzmanlık Öğrencilerinin Bilgi, Tutum ve Uygulamalarının Değerlendirilmesi

“…Thus, pediatricians and pediatric residents are expected to have detailed knowledge of diagnostic and management features of DMD in addition to the routine treatment options along with the natural course of the disease. The knowledge levels and attitudes towards the disease and coping strategies of the patients and parents on hereditary neuromuscular diseases have been subject to numerous studies (4)(5)(6). However, no study concerning the knowledge levels, attitudes, and practices of the medical doctors with the most frequent exposure to this diseasepediatricians and pediatric residents -could be found in the literature.…”