Psychological impact of motor impairment in tow forms of congenital muscular dystrophy

Introduction Congenital muscular dystrophies (CMDs) represent a heterogeneous group of early-onset muscle disorders presenting primarily with hypotonia and delayed motor development. Several genes are known to be responsible for CMDs, including the LAMA2 gene, involved in merosin-deficient type 1A (MDC1A), FKRP gene dystrophy-dystroglycanopathy B5 (MDDGB5). These two forms CMD autosomal recessive each characterized by presence mutation founder effect South Tunisia. Cognitive development associated (c.8007delT) is often conserved, whereas (c.1364 C>A), impairment intellectual disability (ID). Objectives To compare psychological impact children these their families. Methods The study consisted survey parents confirmed diagnosis MDC1A (5 from 3 unrelated families) or MDDGB5 (3 families). correspondent was already identified homozygous state targeted sequencing. Participants’ completed Parent Strengths Difficulties Questionnaire (SDQ), behavioral screening tool designed aged 2 17 years. SDQ assesses emotional symptoms, behavior problems, hyperactivity, peer relationships; Impact Supplement all children’s difficulties on Results average age 4.95±3.92 who were not assessable (age< years). Unlike MDC1A, ID has been reported MDDGB5. mean total score 11, 14.875, reflecting greater difficulty family higher families than (10,5 vs 7), which may due burden management impairment. more pronounced likely related ID. Whereas observed direct cognitive deficit aggravates adaptation makes difficult. Conclusions In absence comparable literature, present conducting future studies profile obtain better understanding everyday life develop interventions adapted Disclosure Interest None Declared