First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review.

IF 3 3区 心理学 Q2 CLINICAL NEUROLOGY Clinical Neuropsychologist Pub Date : 2024-07-04 DOI:10.1080/13854046.2024.2372879
Massimo Apicella, Andrea Battisti, Elisa Pisaneschi, Deny Menghini, Maria Cristina Digilio, Stefano Vicari
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Abstract

Background: The SMARCB1 gene encodes a subunit of the BRG1-Associated Factor (BAF) complex, and mutations in this gene have been linked to Coffin-Siris Syndrome (CSS) type 3. CSS is characterized by a range of developmental disabilities, facial dysmorphic features, and feeding difficulties. There's been noted genotype-phenotype correlation in CSS, with cases involving SMARCB1 mutations often exhibiting more severe language impairment and intellectual disability. Method: We conducted a review of reported CSS type 3 cases and presented the first instance of CSS associated with a SMARCB1 variant wherein the patient exhibited normal intelligence and only mild selective neuropsychological deficits. The patient underwent evaluation for feeding challenges, growth delay, and dysmorphic features during their second year of life. Subsequently, CSS diagnosis was confirmed due to a de novo heterozygous c.568C > T (p.Arg190Trp) variant in the SMARCB1 gene. Due to learning difficulties, the patient underwent a comprehensive neuropsychological assessment, which was related to the retrospective reconstruction of her medical and developmental history. Results: The patient demonstrated normal intelligence and adaptive functioning, with specific deficits in arithmetic and selective difficulties in verbal learning and long-term memory. Feeding difficulties and language delay observed in early childhood showed significant improvement over time. Discussion: We discuss this case in relation to previously reported CSS type 3 cases, emphasizing neuropsychological aspects. It's evident that neuropsychological features of CSS can vary among affected individuals, highlighting the importance of personalized support and interventions tailored to specific cognitive and emotional needs by healthcare professionals. Our case suggests avenues for future research to identify specific modifiers of phenotypic expression to explain variability in intellect among patients and pinpoint potential targets for gene therapy.

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首次报道科芬-西里斯综合征(Coffin-Siris Syndrome)伴有 SMARCB1 变异、正常智力和轻度选择性神经心理障碍:病例报告和文献综述。
背景:SMARCB1 基因编码 BRG1 相关因子(BAF)复合物的一个亚基,该基因突变与科芬-西里斯综合征(Coffin-Siris Syndrome,CSS)3 型有关。CSS 的特征是一系列发育障碍、面部畸形和喂养困难。CSS的基因型与表型之间存在显著的相关性,涉及SMARCB1基因突变的病例通常表现出更严重的语言障碍和智力障碍。研究方法我们回顾了已报道的3型CSS病例,并首次发现了与SMARCB1变异相关的CSS病例,患者智力正常,仅有轻度选择性神经心理障碍。患者在出生后第二年接受了喂养困难、发育迟缓和畸形特征评估。随后,由于SMARCB1基因中的c.568C > T (p.Arg190Trp) 杂合子变异,CSS诊断得到确诊。由于存在学习困难,患者接受了全面的神经心理学评估,并对其病史和发育史进行了回顾性重建。结果显示患者的智力和适应能力正常,但在算术方面存在特殊缺陷,在语言学习和长期记忆方面存在选择性困难。幼儿期发现的喂养困难和语言发育迟缓随着时间的推移有了明显改善。讨论:我们结合之前报道的 CSS 3 型病例对该病例进行了讨论,并强调了神经心理学方面的问题。显而易见,不同患者的 CSS 神经心理特征可能会有所不同,这突出了医护人员针对特定认知和情感需求提供个性化支持和干预的重要性。我们的病例为今后的研究指明了方向,即找出表型表达的特定修饰因子,以解释患者智力的差异,并确定基因治疗的潜在靶点。
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来源期刊
Clinical Neuropsychologist
Clinical Neuropsychologist 医学-临床神经学
CiteScore
8.40
自引率
12.80%
发文量
61
审稿时长
6-12 weeks
期刊介绍: The Clinical Neuropsychologist (TCN) serves as the premier forum for (1) state-of-the-art clinically-relevant scientific research, (2) in-depth professional discussions of matters germane to evidence-based practice, and (3) clinical case studies in neuropsychology. Of particular interest are papers that can make definitive statements about a given topic (thereby having implications for the standards of clinical practice) and those with the potential to expand today’s clinical frontiers. Research on all age groups, and on both clinical and normal populations, is considered.
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