G.P.306 : Pediatric Neuromuscular Diseases Patient Profiles from Family Perspective in Turkey

Abstract

This study aimed to determine general knowledge levels of the families about pediatric neuromuscular diseases and specify their descriptive profiles. Participants and methods: A family seminar was announced to 560 patient families who come from different regions of Turkey and followed regularly at our pediatric neuromuscular disorders unit. The questionnaire which covered child's overall health status (10 questions), child's disease (14 questions) and family's knowledge level about the diseases (14 questions) was sent to families before the seminar. Evaluations were based on 156 full replies. Results: Children's mean age was 10.9±5.9 years. Mean of disease duration was 7.2±4.3 year. The age of diagnosis was 4.4±2.4 years. Clinical diagnoses were as follows: Duchenne Muscular Dystrophy (%77), Spinal Muscular Atrophy (%12.2) and the other neuromuscular diseases (%10.8). %20.4 of the cases had a family history. %21.3 of the families had more than one child with disease. Most of the children (%69.9) diagnosed with the DNA analysis tests. Families reported that their children were affected negatively in the following aspects inquired: physical (%59.5), psychological (%31.4), intellectual (%25) and social (%9.7). Most experienced difficulties in basic daily life of the children were reported as transfer activities (walking % 84, stairs % 89), wearing clothes (%76), personal hygiene (%73) and eating (%40). Children were also affected in joining game activities and going to school. %77.2 of the families expressed their need of informative seminars. Conclusion: Informing families about neuromuscular diseases which cause progressive inabilities must be on an escalating scale. Better interaction is what we all need.