Hepburn Susan, Philofsky Amy, Fidler Deborah J, Rogers Sally
Department of Psychiatry, University of Colorado Health Science Center, Denver, CO, USA.
Human Development & Family Studies, Colorado State University, Denver, CO, USA.
J Appl Res Intellect Disabil. 2008 Jan;21(1):48-57. doi: 10.1111/j.1468-3148.2007.00368.x.
Research suggests that children with Down syndrome may be at increased risk of having an autism spectrum disorder; however, previous studies have not utilized comprehensive, state-of-the-art diagnostic tools to address the question of comorbid autism and Down syndrome.
Comprehensive evaluations for autism were conducted in 20 2-year-old children with Down syndrome. The Autism Diagnostic Observation Schedule-Generic (ADOS-G) and the Autism Diagnostic Interview-Revised (ADI-R) were administered by experienced clinicians, who then determined if the child presented with significant symptoms of autism. Eighteen children participated in a follow-up evaluation at age 4 years.
Three children (15%) met criteria for an autism spectrum disorder at both time points, and two (10%) for autistic disorder. Case descriptions are provided. Several children presented with difficulties in communication and play, but did not show problems in core social relatedness. The ADOS-G, if used alone, over-identifies autism in toddlers with Down syndrome.
Clinical judgement is critical in diagnosing autism in Down syndrome. Young children may show some signs of autism (particularly in the area of communication) and not have the disorder. Children who have comorbid Down syndrome and autism are particularly challenged, relative to their peers without autism.
研究表明,唐氏综合征患儿患自闭症谱系障碍的风险可能更高;然而,以往的研究并未使用全面、先进的诊断工具来探讨自闭症与唐氏综合征共病的问题。
对20名2岁唐氏综合征患儿进行了自闭症综合评估。由经验丰富的临床医生实施《自闭症诊断观察量表通用版》(ADOS-G)和《自闭症诊断访谈修订版》(ADI-R),然后他们确定患儿是否表现出明显的自闭症症状。18名儿童在4岁时参加了随访评估。
3名儿童(15%)在两个时间点均符合自闭症谱系障碍的标准,2名儿童(10%)符合自闭症障碍的标准。提供了病例描述。几名儿童在沟通和玩耍方面存在困难,但在核心社交关系方面没有问题。如果单独使用ADOS-G,会过度诊断唐氏综合征幼儿的自闭症。
临床判断对于诊断唐氏综合征患儿的自闭症至关重要。幼儿可能会表现出一些自闭症迹象(尤其是在沟通方面),但并未患该疾病。与没有自闭症的同龄人相比,患有唐氏综合征和自闭症共病的儿童面临的挑战更大。