Zengin-Akkuş Pınar, Taşkıran Ekim Z, Kabaçam Serkan, Şimşek-Kiper Pelin Özlem, Haliloğlu Göknur, Boduroğlu Koray, Utine Gülen Eda
Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Department of Pediatrics Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2018;60(1):1-9. doi: 10.24953/turkjped.2018.01.001.
Zengin-Akkuş P, Taşkıran EZ, Kabaçam S, Şimşek-Kiper PÖ, Haliloğlu G, Boduroğlu K, Utine GE. Clinical and molecular evaluation of 16 patients with Rett syndrome. Turk J Pediatr 2018; 60: 1-9. Rett syndrome is a neurodevelopmental disorder caused by mutations in MECP2. The disease is characterized by early neurological regression following a normal initial development. The diagnosis is a clinical one, based on major and minor diagnostic criteria. This study, in a group of patients from a single tertiary center, aimed to evaluate the efficiency of clinical diagnosis and to see if there was a diagnostic delay. A second aim was to investigate genotype-phenotype correlations, based on Pineda scores. In this study, sixteen patients with a median age of 6.5 years (2.5-22 years) were included, following molecular confirmation of clinical diagnosis. The median age at the onset of symptoms and the median age at clinical diagnosis was 1.5 years and 2.5 years, respectively, the difference being statistically significant. Considering the Rett syndrome diagnostic criteria, initially regulated in 2002 and revised in 2010, seven and two patients in our group, respectively, did not meet the main criteria. Pineda scores among mutation groups were statistically not different. To conclude, the present study revealed presence of a diagnostic delay. The challenge may be that the patients do not exhibit full-blown clinical picture initially. No genotype-phenotype correlations were detected in clinical severity, as measured by Pineda scores. Moreover, the diagnostic criteria revised in 2010 are more comprehensive as compared to the 2002 criteria; however, further revision may increase diagnostic sensitivity.
曾金-阿库什P、塔什基兰EZ、卡巴恰姆S、西姆谢克-基珀PÖ、哈利洛格鲁G、博杜罗格鲁K、乌蒂内GE。16例雷特综合征患者的临床和分子评估。《土耳其儿科学杂志》2018年；60：1 - 9。雷特综合征是一种由MECP2基因突变引起的神经发育障碍。该疾病的特征是在最初正常发育后出现早期神经功能衰退。诊断是基于主要和次要诊断标准的临床诊断。本研究在来自单一三级中心的一组患者中，旨在评估临床诊断的效率并查看是否存在诊断延迟。第二个目的是基于皮内达评分研究基因型与表型的相关性。在本研究中，纳入了16例中位年龄为6.5岁（2.5 - 22岁）的患者，临床诊断经分子确认。症状出现的中位年龄和临床诊断的中位年龄分别为1.5岁和2.5岁，差异具有统计学意义。考虑到2002年最初制定并于2010年修订的雷特综合征诊断标准，我们组分别有7例和2例患者不符合主要标准。突变组之间的皮内达评分在统计学上无差异。总之，本研究揭示了存在诊断延迟。挑战可能在于患者最初并未表现出典型的临床症状。在以皮内达评分衡量的临床严重程度方面未检测到基因型与表型的相关性。此外，与2002年标准相比，2010年修订的诊断标准更全面；然而，进一步修订可能会提高诊断敏感性。
