Butti Niccolò, Urgesi Cosimo, Mussa Alessandro, Montirosso Rosario
Scientific Institute, IRCCS E. Medea, 0-3 Centre for the at-Risk Infant, Bosisio Parini, Lecco, Italy.
PhD Program in Neural and Cognitive Sciences, Department of Life Sciences, University of Trieste, Trieste, Italy.
Am J Med Genet B Neuropsychiatr Genet. 2025 Mar;198(2):e33006. doi: 10.1002/ajmg.b.33006. Epub 2024 Sep 25.
Although Beckwith-Wiedemann syndrome spectrum (BWSp) is not usually associated with intellectual disability, recent evidences calls for further investigation of cognitive development and academic skills in children with BWSp. Moreover, research has documented social difficulties and emotional-behavioral problems associated with BWSp. Nevertheless, a full characterization of socio-emotional development in BWSp is still lacking. In the current study, cognitive and socio-emotional development was assessed in 29 children with BWSp aged 5-18 years, using a test of nonverbal intelligence, a neuropsychological battery covering multiple domains, academic skills tests, and questionnaires evaluating autistic traits and emotional-behavioral problems. As expected, most participants showed adequate performance in cognitive tests. However, the findings also highlighted greater difficulties in language than visuospatial processing, strengths in social perception, as well as slowness in reading and mental calculation. The assessment of emotional-behavioral difficulties indicated a prevalent phenotype characterized by increased anxiety, low self-esteem, social withdrawal and a tendency to control externalizing reactions, but no associations with autistic traits, cognitive outcomes, and the clinical score proposed by the recent Consensus statement. Increased social perception and internalization problems likely result from coping strategies with social and care-related stress. Overall, the findings of this study inform clinical management and genetic counseling for children and adolescents with BWSp.
尽管贝克威思-维德曼综合征谱系（BWSp）通常与智力残疾无关，但最近的证据表明需要进一步研究BWSp患儿的认知发展和学业技能。此外，研究记录了与BWSp相关的社交困难和情绪行为问题。然而，BWSp中社会情感发展的全面特征仍然缺乏。在本研究中，对29名年龄在5至18岁的BWSp患儿进行了认知和社会情感发展评估，使用了非言语智力测试、涵盖多个领域的神经心理测验组、学业技能测试以及评估自闭症特征和情绪行为问题的问卷。正如预期的那样，大多数参与者在认知测试中表现良好。然而，研究结果也突出了语言方面比视觉空间处理方面存在更大困难、社会感知方面的优势以及阅读和心算方面的迟缓。情绪行为困难的评估表明，一种普遍的表型特征是焦虑增加、自尊心低、社交退缩以及控制外化反应的倾向，但与自闭症特征、认知结果以及最近的共识声明提出的临床评分无关。社会感知和内化问题的增加可能是应对社会和护理相关压力的策略所致。总体而言，本研究结果为BWSp儿童和青少年的临床管理和遗传咨询提供了参考。
