Çaksen Hüseyin, Aktar Fesih, Yıldırım Gökçen, Ceylaner Serdar
Department of Pediatric Neurology, Necmettin Erbakan University Meram Medical Faculty, Konya, Turkey.
Department of Pediatrics, Dicle University Faculty of Medicine, Diyarbakır, Turkey.
Sudan J Paediatr. 2019;19(1):52-56. doi: 10.24911/SJP.106-1536222362.
In this study, we prospectively evaluated demographic characteristics, clinical findings and pedigree patterns in 70 patients with familial epilepsy and/or intellectual disability (ID)/global developmental delay (GDD) and/or motor retardation but without specific etiologic diagnosis to determine genetic inheritance patterns by using at least a three-generation pedigree analysis. Mean age of the patients was 6.85 ± 3.93 years and male/female ratio was 1.50. There was consanguinity between the parents of 47 (67.1%) patients. Only epilepsy was diagnosed in 14 patients; only ID/GDD in 22; epilepsy and ID/GDD in 9 and epilepsy and ID/GDD and motor retardation in 25 patients. Genetic inheritance pattern was definitely determined in 60 (85.7%) patients, and most of the patients (61.4%) displayed autosomal recessive inheritance. Based on our findings, we suggest that a three-generation pedigree analysis should be obtained in all patients with familial neurological disorders, including epilepsy, ID/GDD and motor retardation, to optimise counselling, screening and diagnostic testing.
在本研究中，我们前瞻性评估了70例患有家族性癫痫和/或智力残疾（ID）/全面发育迟缓（GDD）和/或运动发育迟缓但无特定病因诊断的患者的人口统计学特征、临床发现和家系模式，通过至少三代家系分析来确定遗传遗传模式。患者的平均年龄为6.85±3.93岁，男女比例为1.50。47例（67.1%）患者的父母之间存在近亲关系。仅14例患者被诊断为癫痫；仅22例为ID/GDD；9例为癫痫和ID/GDD；25例为癫痫、ID/GDD和运动发育迟缓。60例（85.7%）患者明确确定了遗传遗传模式，大多数患者（61.4%）表现为常染色体隐性遗传。基于我们发现，我们建议对所有患有家族性神经系统疾病（包括癫痫、ID/GDD和运动发育迟缓）的患者进行三代家系分析，以优化咨询、筛查和诊断测试。
