Abstract：
Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by the presence of particular facies, congenital malformations, intellectual developmental disorder, behavioral issues, and speech and language impairment. Thorough neuropsychological assessments in the case of CSS have been reported infrequently, and its subdomains are poorly defined. A detailed description of the clinical, neurocognitive, behavioral, socio-adaptive sequelae of the patient with CSS is provided.
The clinical diagnosis in the patient was confirmed by genetic analysis, which identified the presence of mutation of ARID1B gene; the parents\' Sanger sequencing reported normal. The neuropsychological assessments revealed borderline intellectual functioning (IQ-75, verbal > performance) with a mild socio-adaptive deficit score of 64 as suggested by the adaptive scale. The behavioral profile reported that the child had significant difficulties in the attention subdomain with concern in social and thought subdomains. The child met the profile for mild severity of Autism Spectrum Disorder and did not meet the criteria for Attention Deficit Hyperactivity Disorder. In addition, the child had scholastic difficulties in reading and mathematical skills.
Neurocognitive, behavioral, socio-adaptive functioning and comorbidity assessment in order to provide holistic management of such children after thorough evaluation is essential for their overall functioning.
The clinical diagnosis in the patient was confirmed by genetic analysis, which identified the presence of mutation of ARID1B gene; the parents\' Sanger sequencing reported normal. The neuropsychological assessments revealed borderline intellectual functioning (IQ-75, verbal > performance) with a mild socio-adaptive deficit score of 64 as suggested by the adaptive scale. The behavioral profile reported that the child had significant difficulties in the attention subdomain with concern in social and thought subdomains. The child met the profile for mild severity of Autism Spectrum Disorder and did not meet the criteria for Attention Deficit Hyperactivity Disorder. In addition, the child had scholastic difficulties in reading and mathematical skills.
Neurocognitive, behavioral, socio-adaptive functioning and comorbidity assessment in order to provide holistic management of such children after thorough evaluation is essential for their overall functioning.
摘要：
Coffin-Siris综合征（CSS）是一种罕见的遗传性疾病，其特征是存在特定的相，先天性畸形,智力发育障碍,行为问题,以及言语和语言障碍。在CSS的情况下，彻底的神经心理学评估很少被报道，和它的子域定义不明确。详细的临床描述，神经认知，行为，提供了CSS患者的社会适应性后遗症。
通过基因分析证实了患者的临床诊断，鉴定出ARID1B基因突变的存在；父母的Sanger测序报告正常。神经心理学评估显示，智力功能处于边缘（IQ-75，言语表现>表现），如适应性量表所示，轻度社会适应性缺陷得分为64。行为概况报告说，孩子在注意力子领域遇到了重大困难，而在社会和思想子领域则受到关注。该儿童符合自闭症谱系障碍的轻度严重程度，并且不符合注意力缺陷多动障碍的标准。此外,这个孩子在阅读和数学技能方面有学习困难。
神经认知，行为，社会适应功能和合并症评估，以便在全面评估后对此类儿童进行全面管理，这对其整体功能至关重要。
通过基因分析证实了患者的临床诊断，鉴定出ARID1B基因突变的存在；父母的Sanger测序报告正常。神经心理学评估显示，智力功能处于边缘（IQ-75，言语表现>表现），如适应性量表所示，轻度社会适应性缺陷得分为64。行为概况报告说，孩子在注意力子领域遇到了重大困难，而在社会和思想子领域则受到关注。该儿童符合自闭症谱系障碍的轻度严重程度，并且不符合注意力缺陷多动障碍的标准。此外,这个孩子在阅读和数学技能方面有学习困难。
神经认知，行为，社会适应功能和合并症评估，以便在全面评估后对此类儿童进行全面管理，这对其整体功能至关重要。
