Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, California, USA.
Autism Res. 2023 Sep;16(9):1739-1749. doi: 10.1002/aur.2973. Epub 2023 Jul 5.
Evidence suggests autistic individuals at elevated familial likelihood of autism spectrum disorder (by virtue of having an autistic sibling) have stronger cognitive abilities on average than autistic individuals with no family history of the condition, who have a low familial likelihood of autism. Investigating phenotypic differences between community-referred infants and toddlers with autism symptoms at elevated or low familial likelihood of autism may provide important insight into heterogeneity in the emerging autism phenotype. This study compared behavioral, cognitive, and language abilities of community-referred infants and toddlers with confirmed autism symptoms at elevated (EL) or low familial likelihood of autism (LL). Participants were 121 children aged 12 to 36 months who participated in two larger randomized trials of parent-mediated interventions for children with autism symptoms. Behavioral phenotypes were compared across three groups: children with at least one autistic sibling (EL-Sibs, n = 30), those with at least one older, non-autistic sibling and no family history of autism (LL-Sibs, n = 40), and first-born children with no family history of autism (LL-FB, n = 51). EL-Sibs had less severe autism symptoms and stronger cognitive abilities than children in LL groups. While the rate of receptive language delay was similar across groups, the rate of expressive language delay was markedly lower among EL-Sibs. After controlling for age and nonverbal cognitive ability, EL-Sibs were significantly less likely to present with expressive language delay than LL-Sibs. Familial likelihood of autism may play an important role in shaping the emerging autism phenotype in infancy and toddlerhood.
有证据表明，家族中自闭症谱系障碍（ASD）发病率较高的自闭症个体（由于有自闭症兄弟姐妹）的认知能力通常比家族中 ASD 发病率较低的自闭症个体更强，后者的家族 ASD 发病率较低。研究具有 ASD 症状的社区转诊婴儿和幼儿中发病率较高和较低的个体之间的表型差异，可能为新兴自闭症表型的异质性提供重要的见解。本研究比较了发病率较高（EL）或较低（LL）家族自闭症可能性的社区转诊自闭症症状儿童的行为、认知和语言能力。参与者为 121 名 12 至 36 个月大的儿童，他们参加了两项针对自闭症症状儿童的家长介导干预的更大规模随机试验。在三个组之间比较了行为表型：至少有一个自闭症兄弟姐妹的儿童（EL-Sibs，n=30）、至少有一个年龄较大的非自闭症兄弟姐妹且无自闭症家族史的儿童（LL-Sibs，n=40）和无自闭症家族史的第一个出生的儿童（LL-FB，n=51）。EL-Sibs 的自闭症症状较严重，认知能力较强。虽然各组的接受性语言延迟率相似，但 EL-Sibs 的表达性语言延迟率明显较低。在控制年龄和非语言认知能力后，EL-Sibs 出现表达性语言延迟的可能性明显低于 LL-Sibs。自闭症家族发病率可能在塑造婴儿和幼儿期的新兴自闭症表型方面发挥重要作用。
