Morel Aurore, Peyroux Elodie, Leleu Arnaud, Favre Emilie, Franck Nicolas, Demily Caroline
Scientific Brain Training, Reference Center for Rare Diseases GénoPsy, CH Le Vinatier, UMR 5229, Université Lyon 1, CNRS, Lyon, France.
Reference Center for Rare Diseases GénoPsy, SUR/CL3R: Service Universitaire de Réhabilitation, CH Le Vinatier, UMR 5229, Université Lyon 1, CNRS, Lyon, France.
Front Pediatr. 2018 May 3;6:102. doi: 10.3389/fped.2018.00102. eCollection 2018.
Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11.2 deletion syndrome, Angelman syndrome, Fragile X syndrome, Klinefelter syndrome, Prader-Willi syndrome, Rett syndrome, Smith-Magenis syndrome, Turner syndrome, and Williams syndrome) and shed some light on the specific mechanisms that may underlie these skills in each clinical presentation. We first detail the different processes included in the generic expression "social cognition" before summarizing the genotype, psychiatric phenotype, and non-social cognitive profile in each syndrome. Then, we offer a systematic review of the social cognitive abilities and the disturbed mechanisms they are likely associated with. We followed the PRISMA process, including the definition of the relevant search terms, the selection of studies based on clear inclusion, and exclusion criteria and the quality appraisal of papers. We finally provide insights that may have considerable influence on the development of adapted therapeutic interventions such as social cognitive training (SCT) therapies specifically designed to target the psychiatric phenotype. The results of this review suggest that social cognition impairments share some similarities across syndromes. We propose that social cognitive impairments are strongly involved in behavioral symptoms regardless of the overall cognitive level measured by intelligence quotient. Better understanding the mechanisms underlying impaired social cognition may lead to adapt therapeutic interventions. The studies targeting social cognition processes offer new thoughts about the development of specific cognitive training programs, as they highlight the importance of connecting neurocognitive and SCT techniques.
罕见神经发育综合征常表现出社会认知缺陷，这些缺陷可能是社交互动困难的潜在原因，并增加患精神病或自闭症谱系障碍的风险。然而，对于不同综合征中社会认知障碍的特异性了解甚少，而这仍然是护理工作面临的一项重大挑战。我们的综述概述了与精神症状相关的罕见疾病中的社会认知功能障碍（估计患病率在每1200至25000例活产中有1例：22q11.2缺失综合征、天使综合征、脆性X综合征、克兰费尔特综合征、普拉德-威利综合征、雷特综合征、史密斯-马吉尼斯综合征、特纳综合征和威廉姆斯综合征），并揭示了每种临床表现中这些技能可能潜在的具体机制。我们首先详细阐述了“社会认知”这一通用表述所包含的不同过程，然后总结了每种综合征的基因型、精神表型和非社会认知概况。接着，我们对社会认知能力及其可能相关的紊乱机制进行了系统综述。我们遵循了PRISMA流程，包括相关检索词的定义、基于明确纳入和排除标准的研究选择以及论文的质量评估。我们最终提供了一些见解，这些见解可能对适应性治疗干预措施的开发产生重大影响，例如专门针对精神表型设计的社会认知训练（SCT）疗法。本综述结果表明，不同综合征中的社会认知障碍存在一些相似之处。我们提出，无论通过智商衡量的总体认知水平如何，社会认知障碍都与行为症状密切相关。更好地理解社会认知受损的潜在机制可能会带来适应性治疗干预措施。针对社会认知过程的研究为特定认知训练项目的开发提供了新思路，因为它们强调了将神经认知和SCT技术相结合的重要性。
