Congenital myasthenic syndromes (CMS) are inherited disorders caused by defects in proteins essential for neuromuscular transmission. In this nationwide, multicenter retrospective study, we analyzed 133 genetically confirmed CMS cases from 118 unrelated families between 2017 and 2024 across 28 centers in Türkiye. Clinical, electrophysiological, and genetic data were collected from medical records. In addition, we performed a PubMed-based review of previously reported genetically confirmed Turkish CMS cases to place our findings in a broader national context. The median age at symptom onset, and the median diagnostic delay were 6 months and 24 months, respectively. Ocular involvement was the most common clinical feature, followed by respiratory and bulbar involvement. High consanguinity (82%) contributed to a predominance of homozygous variants. Variants were identified in 16 CMS-associated genes, with COLQ (34.6%), CHRNE (24.1%), and CHAT (12.8%) being the most frequent. Postsynaptic CMS was the most common anatomical subgroup. Eighteen novel variants across 11 genes expanded the mutational spectrum of CMS. Review of 23 previously published studies from Türkiye identified 139 additional genetically confirmed cases, showing a broadly similar genetic distribution, with CHRNE and COLQ predominating, followed by CHAT, whereas other CMS-associated genes were reported only sporadically. >These findings define the clinical and genetic landscape of CMS in Türkiye and, together with previously published Turkish cases, provide a broad national overview based on 272 genetically confirmed cases. The results highlight the major contribution of a limited number of genes and underscore the importance of early molecular diagnosis in a population with high consanguinity.
Canan Üstün, I. Polat, Gülten Öztürk et al.· Neuromuscular Disorders· 0 citations
BACKGROUND
Although seizure self-efficacy is recognized as an important factor in epilepsy management, its relationship with psychological outcomes such as depression and anxiety in pediatric populations remains underexplored. This study aimed to evaluate seizure self-efficacy in children and adolescents with epilepsy and to examine its associations with depression, anxiety, and relevant clinical and psychosocial factors.
METHODS
This cross-sectional observational study included 121 patients aged 9-17 years with epilepsy. Seizure self-efficacy was assessed using the Seizure Self-Efficacy Scale for Children (SSES-C), while depressive symptoms and anxiety levels were measured using the Children's Depression Inventory (CDI) and the State-Trait Anxiety Inventory for Children (STAIC). Associations were analyzed using correlation and group comparison tests, and multivariable logistic regression was performed to identify independent predictors of depression.
RESULTS
The median age was 14 years (IQR: 12-15), and 53.7% were male. The median self-efficacy score was 3.80 (IQR: 3.20-4.40). Seizure self-efficacy was significantly and inversely correlated with depression (r = - 0.546), state anxiety (r = - 0.437), and trait anxiety (r = - 0.348) (all p < 0.001). Depression showed strong positive correlations with both anxiety measures. Patients with lower self-efficacy had higher depression and anxiety scores, with a clear gradient across levels. In multivariable analysis, lower self-efficacy remained independently associated with depression (OR: 0.35, p = 0.001). Lower income and lack of family support were also independent risk factors.
CONCLUSION
Seizure self-efficacy is closely associated with psychological outcomes in pediatric epilepsy and may represent a modifiable risk factor for depression. These findings support routine assessment and targeted interventions, although they should be interpreted in light of the study's single-center, cross-sectional design and reliance on self-reported measures, which may limit generalizability and preclude causal inferences.
Gözde Örçen Ergun, Gokce Yagmur Efendi, A. Güneş et al.· Epilepsy & Behavior· 0 citations
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