Epilepsja i problemy poznawcze w dystrofinopatiach: perspektywa opiekunów
Epilepsy and Neurocognitive Profile in Dystrophinopathies: Insights from Caregiver Perspectives
W skrócie
Badanie wykazało, że u pacjentów z dystrofinopatiami (rzadkimi chorobami mięśni) oprócz problemów motorycznych występują również ataki padaczki, trudności w nauce i problemy w kontaktach społecznych. Ankieta przeprowadzona wśród opiekunów wykazała, że epilepsja dotyka 2,3% pacjentów, problemy z pamięcią i liczeniem dotyczy ponad 30%, a komunikacja z rówieśnikami jest utrudniona u prawie jednej trzeciej chorych. Badacze podkreślają, że kompleksowa opieka obejmująca neurologa, nauczyciela i psychologa jest konieczna do poprawy jakości życia tych pacjentów.
Oryginalny abstract (angielski)
BACKGROUND AND OBJECTIVES: Dystrophinopathies, including Duchenne and Becker muscular dystrophy, are multisystem disorders characterized by progressive motor decline, epilepsy, cognitive impairments, and psychosocial challenges. However, data from Turkey, particularly from caregivers, remain limited. This study evaluated caregiver-reported outcomes of motor function, cognitive abilities, language, attention, fine motor skills, social functioning, and seizure history in dystrophinopathies. METHODS: A cross-sectional survey was conducted with 267 primary caregivers using a structured questionnaire via Google Forms. The survey addressed motor function, seizure history, educational participation, cognitive and language abilities, attention, fine motor skills, and social functioning. RESULTS: Motor assessment showed that 35.2% of participants required a wheelchair. Febrile seizures occurred in 5% and epilepsy in 2.3%, with only half of affected individuals receiving antiseizure medication. Educational participation varied: 56.8% attended mainstream schooling independently, while 5.7% could not access education due to combined motor and cognitive impairments. Language difficulties included expressive (34.9%) and receptive delays (23.9%), as well as problems with word retrieval (18.8%) and comprehension of complex sentences (26.1%). Learning difficulties were common, especially in memory retention (32.1%) and arithmetic (26.3%). Attention problems were reported in 39.8% of cases. Fine motor difficulties involved pencil use (35.2%) and writing alignment (30.9%). Social challenges included impaired peer communication (32.2%) and low self-confidence (35.3%). CONCLUSIONS: Dystrophinopathies impose a major extramuscular burden beyond motor decline, including epilepsy, cognitive deficits, and psychosocial difficulties. Importantly, the caregiver perspective highlights underrecognized cognitive and behavioral challenges, as well as barriers to education, providing actionable insights to guide multidisciplinary follow-up. These findings emphasize the importance of early recognition and comprehensive care that integrates neurological, educational, and psychosocial support to improve outcomes for individuals with dystrophinopathies.