Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, London, UK.
Departamento de Psiquiatría del Niño y del Adolescente, Instituto de Investigación Sanitaria Gregorio Marañón, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
J Neurodev Disord. 2024 Nov 19;16(1):64. doi: 10.1186/s11689-024-09564-7.
Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates of autistic features. However, it is currently unknown whether people with PMS have similar neurocognitive atypicalities to those previously identified in idiopathic autism. Disruption in social orienting has previously been suggested as an early hallmark feature of idiopathic autism that impacts social learning and social interaction.
This study used a semi-naturalistic task to explore orienting to social versus non-social stimuli and its relation to clinical features in individuals diagnosed with PMS, autism, and neurotypical children recruited in the United States and the United Kingdom.
At the group level, autistic and neurotypical children responded on average more often to social than non-social stimuli, while children with PMS responded similarly to both stimulus types. Both clinical groups responded significantly less often to social stimuli than neurotypical children. In addition, we found considerable variability in orienting responses within each group that were of clinical relevance. In the autism group, non-social orienting was associated with mental age, while in the PMS group social and non-social orienting were related to strength of autistic features.
These findings do not support specific social motivation difficulties in either clinical group. Instead, they highlight the importance of exploring individual differences in orienting responses in Phelan-McDermid Syndrome in relation to autistic features.
NA.
Phelan-McDermid 综合征（PMS）是一种罕见的遗传综合征，其特征为发育迟缓/智力残疾、言语缺失或延迟、身体形态异常以及自闭症特征高发。然而，目前尚不清楚 PMS 患者是否具有与特发性自闭症患者先前确定的类似神经认知异常。社交定向障碍先前被认为是特发性自闭症的早期标志性特征之一，会影响社交学习和社交互动。
本研究使用半自然任务来探索个体对社交与非社交刺激的定向作用，及其与 PMS、自闭症和神经典型儿童临床特征的关系，这些儿童是在美国和英国招募的。
在组水平上，自闭症和神经典型儿童平均对社交刺激的反应比非社交刺激更频繁，而 PMS 儿童对这两种刺激类型的反应相似。两个临床组对社交刺激的反应频率明显低于神经典型儿童。此外，我们还发现每个组内的定向反应存在相当大的个体差异，这些差异与临床相关。在自闭症组中，非社交定向与心理年龄有关，而在 PMS 组中，社交和非社交定向与自闭症特征的强度有关。
这些发现并不支持两个临床组在社交动机方面存在特定困难。相反，它们强调了在 Phelan-McDermid 综合征中探索与自闭症特征相关的定向反应个体差异的重要性。
无。
