Abstract：
ARID1B-related disorders constitute a clinical continuum, from classic Coffin-Siris syndrome to intellectual disability (ID) with or without nonspecific dysmorphic features. Here, we describe an 11-year-old boy with an ARID1B mutation whose phenotype changed from severe developmental delay and ID to a complex neurodevelopmental disorder with multidimensional impairments, including normal intelligence despite heterogeneous IQ scores, severe motor coordination disorder, oral language disorder and attention-deficit/hyperactivity disorder. Phenotypic changes occurred after early intensive remediation and paralleled the normalization of myelination impairments, as evidenced by early brain imaging. WHAT THIS PAPER ADDS?: This report describes a 10-year multidisciplinary follow-up of a child with an ARID1B mutation who received early intensive remediation and whose phenotype changed during development. Clinical improvement paralleled the normalization of myelination impairments. This case supports a dimensional approach for complex neurodevelopmental disorders.
摘要：
ARID1B相关疾病构成临床连续体，从经典的Coffin-Siris综合征到有或没有非特异性异形特征的智力残疾(ID)。这里,我们描述了一个具有ARID1B突变的11岁男孩，其表型从严重的发育迟缓和ID转变为具有多维损伤的复杂神经发育障碍，包括正常的智力，尽管智商得分不同，严重的运动协调障碍,口头语言障碍和注意力缺陷/多动障碍。表型变化发生在早期强化修复后，与髓鞘形成损伤的正常化平行。早期大脑成像证明了这一点。这篇论文有什么进展？：该报告描述了一个患有ARID1B突变的儿童的10年多学科随访，该儿童接受了早期强化修复，其表型在发育过程中发生了变化。临床改善与髓鞘形成障碍的正常化平行。此案例支持复杂神经发育障碍的多维方法。
