Milutinovic Luka, Grujicic Roberto, Mandic Maravic Vanja, Joksic Ivana, Ljubomirovic Natasa, Pejovic Milovancevic Milica
Clinical Department for Children and Adolescents, Institute of Mental Health, Belgrade, Serbia.
Day Hospital for Psychotic Disorders, Institute of Mental Health, Belgrade, Serbia.
Front Psychiatry. 2023 Aug 24;14:1199710. doi: 10.3389/fpsyt.2023.1199710. eCollection 2023.
Autism spectrum disorders (ASDs) are a group of developmental disorders characterized by deficits in social communicative skills and the occurrence of repetitive and/or stereotyped behaviors. Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degrees, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. In this study, we present a detailed description of autistic traits in a boy diagnosed with CSS and further discuss their genetic backgrounds.
An 8-year-old boy with ASD, congenital anomalies, and neurological problems had been diagnosed with Coffin-Siris syndrome after genetic testing. Genetic testing revealed a heterozygous pathogenic variant (class 5) c.1638_1647del in the gene that is causative of Coffin-Siris syndrome but also other intellectual disability (ID)-related disorders, including autism. Tests that preceded the diagnoses, as well as congenital anomalies and developmental issues, were further described in an attempt to better present his phenotype.
Both autism and -related disorders are on a spectrum. This report points out the importance and necessity of further research regarding the genetic backgrounds of these disorders to understand their complex etiology.
自闭症谱系障碍（ASD）是一组发育障碍，其特征是社交沟通技能缺陷以及重复和/或刻板行为的出现。科芬 - 西里综合征（CSS）的典型特征是第五指及其他手指的远端指骨或指甲发育不全或发育不良、不同程度的发育或认知延迟、独特的面部特征、肌张力减退、多毛症/多毛、头皮毛发稀疏。在本研究中，我们详细描述了一名被诊断为CSS的男孩的自闭症特征，并进一步讨论了其遗传背景。
一名患有自闭症谱系障碍、先天性异常和神经问题的8岁男孩在基因检测后被诊断为科芬 - 西里综合征。基因检测发现一个杂合致病性变异（5类）c.1638_1647del，该基因不仅导致科芬 - 西里综合征，还导致其他与智力残疾（ID）相关的疾病，包括自闭症。为了更好地呈现他的表型，还进一步描述了诊断前的检查以及先天性异常和发育问题。
自闭症及相关疾病都在一个谱系范围内。本报告指出了进一步研究这些疾病遗传背景以了解其复杂病因学的重要性和必要性。
