Dutch Growth Research Foundation, Westzeedijk 106, P.O. 23068, 3001 KB Rotterdam, The Netherlands.
Res Dev Disabil. 2013 Sep;34(9):2764-73. doi: 10.1016/j.ridd.2013.05.024. Epub 2013 Jun 19.
In order to evaluate the social cognitive functioning in children with Prader-Willi syndrome (PWS), Theory of Mind (ToM) and symptoms of Autism Spectrum Disorder were evaluated. Sixty-six children with PWS aged 7-17 years were tested using the Theory of Mind test-R and the Diagnostic Interview for Social Communication disorders. We tested the correlation between Total ToM Standard Deviation Score (Total ToM SDS) and genetic subtype of paternal deletion or maternal uniparental disomy, and total IQ, verbal IQ and performal IQ. Prevalence and symptoms of Autism Spectrum Disorder were assessed. Median (interquartile range) of total ToM SDS of those aged 7-17 years was -3.84 (-5.73, -1.57). Their Total ToM SDS correlated with total IQ (β=0.662, p<0.001, adj.R(2)=0.407), in particular with verbal IQ (β=0.502, p=0.001, adj.R(2)=0.409), but not with performal IQ (β=0.241, p>0.05, adj.R(2)=0.259). No difference in Total ToM SDS was found between children with deletion and maternal uniparental disomy (β=-0.143, p>0.05, adj.R(2)=-0.016). Compared to the reference group of healthy children aged 7-12 years, children with PWS in the same age group had a median ToM developmental delay of 4 (3-5) years. One third of children with PWS scored positive for Autism Spectrum Disorder. Most prominent aberrations in Autism Spectrum Disorder were focused on maladaptive behavior. Our findings demonstrate a markedly reduced level of social cognitive functioning, which has consequences for the approach of children with PWS, i.e. adjustment to the child's level of social cognitive functioning.
为了评估普瑞德威利综合征（PWS）患儿的社会认知功能，评估了他们的心理理论（Theory of Mind，ToM）和自闭症谱系障碍（Autism Spectrum Disorder，ASD）症状。我们使用心理理论测试-R（Theory of Mind test-R）和自闭症谱系障碍诊断访谈（Diagnostic Interview for Social Communication disorders）对 66 名 7-17 岁的 PWS 患儿进行了测试。我们测试了总心理理论标准偏差分数（Total ToM Standard Deviation Score，Total ToM SDS）与父源缺失或母源单亲二体遗传亚型以及总智商、言语智商和操作智商之间的相关性。评估了自闭症谱系障碍的患病率和症状。7-17 岁儿童的总心理理论 SDS 中位数（四分位距）为-3.84（-5.73，-1.57）。他们的总心理理论 SDS 与总智商（β=0.662，p<0.001，adj.R(2)=0.407），特别是言语智商（β=0.502，p=0.001，adj.R(2)=0.409），但与操作智商（β=0.241，p>0.05，adj.R(2)=0.259）无关。缺失组和母源单亲二体组的总心理理论 SDS 无差异（β=-0.143，p>0.05，adj.R(2)=-0.016）。与 7-12 岁健康儿童参考组相比，同年龄组的 PWS 儿童心理理论发育延迟中位数为 4（3-5）年。三分之一的 PWS 儿童的 ASD 评分呈阳性。ASD 最突出的异常表现是行为适应不良。我们的研究结果表明，儿童的社会认知功能明显下降，这对 PWS 患儿的治疗方法有影响，即根据儿童的社会认知功能水平进行调整。
