McDonald Nicole M, Hyde Carly, Choi April Boin, Gulsrud Amanda C, Kasari Connie, Nelson Charles A, Jeste Shafali S
UCLA Semel Institute for Neuroscience and Human Behavior, Los Angeles, California (Dr McDonald, Gulsrud, Kasari, and Jeste and Ms Hyde); Harvard Graduate School of Education, Boston, Massachusetts (Ms Choi); and Boston Children's Hospital, Harvard University, Boston, Massachusetts (Dr Nelson).
Infants Young Child. 2020 Apr-Jun;33(2):108-118. doi: 10.1097/iyc.0000000000000160.
Tuberous sclerosis complex (TSC) is a rare genetic syndrome that confers risk for neurodevelopmental disorders, including autism spectrum disorder and intellectual disability. Delays in social communication and early cognitive abilities are observable as early as 9 months of age in children with TSC; however, there have been no studies of early behavioral intervention in TSC. We conducted a pilot study of an evidence-based, parent-mediated behavioral intervention focused on improving early social communication and play skills in 5 children with TSC (aged 1-3 years). Participants showed maintenance and sometimes gains in developmental abilities, relative to peers, following intervention. Parents generally found the intervention to be helpful and were able to administer the intervention with fidelity. Preliminary results demonstrate initial feasibility of an early play-based, parent-mediated intervention and support the need for a large-scale, randomized clinical trial in TSC.
结节性硬化症(TSC)是一种罕见的遗传综合征,会增加患神经发育障碍的风险,包括自闭症谱系障碍和智力残疾。TSC患儿早在9个月大时就可观察到社交沟通和早期认知能力的延迟;然而,目前尚无关于TSC早期行为干预的研究。我们开展了一项试点研究,对一项基于证据、由家长介导的行为干预进行了研究,该干预旨在提高5名TSC患儿(年龄1至3岁)的早期社交沟通和玩耍技能。干预后,与同龄人相比,参与者的发育能力得到了维持,有时还有所提高。家长们普遍认为该干预有帮助,并且能够忠实地实施干预。初步结果证明了早期基于玩耍、由家长介导的干预的初步可行性,并支持在TSC中开展大规模随机临床试验的必要性。