Goodman Lynnel C, Richard Melissa A, Woodhouse John P, Ihnen S Katie Z, Capal Jamie K, Northrup Hope, Krueger Darcy A, Bebin E Martina, Wu Joyce Y, Sahin Mustafa, Pearson Deborah A
Louis A. Faillace, MD Department of Psychiatry and Behavioral Sciences, McGovern Medical School, The University of Texas Health Science Center at Houston (UT Health), Houston, Texas; Center for Depression Research and Clinical Care, Peter O'Donnell Jr. Brain Institute and the Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, Texas.
Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
Pediatr Neurol. 2025 Oct;171:54-62. doi: 10.1016/j.pediatrneurol.2025.07.008. Epub 2025 Jul 19.
Tuberous sclerosis complex (TSC) is associated with higher risk of adaptive problems, behavior/emotional problems, and autism spectrum disorder (ASD). This study evaluated the adaptive and behavioral developmental trajectories of children with TSC with and without a diagnosis of ASD at 36 months.
The Tuberous Sclerosis Complex Autism Center of Excellence Research Network study longitudinally assessed infants with TSC. Developmental (Mullen Scales of Early Learning), adaptive (Vineland Adaptive Behavior Scales, 2nd Edition, Survey Interview), and behavior/emotional (Child Behavior Checklist) functioning at 18, 24, and 36 months were examined in relationship to an ASD clinical diagnosis at 36 months.
Deficits in all adaptive functioning domains were observed starting at age 18 months among those ultimately diagnosed with ASD but were largely explained after adjustment for developmental functioning except for lower social functioning at 36 months among individuals with ASD. Behavior/emotional problems did not consistently differ at 18 or 24 months, but nearly all emotional/behavioral problem domains were more severe in the children with ASD, relative to their peers without ASD at 36 months, even after adjusting for developmental functioning. These findings were not attributable to seizure burden.
Although children with TSC and ASD did not differ in their adaptive functioning compared with children with TSC without ASD before 36 months, by 36 months, their social adjustment and emotional/behavioral functioning was significantly poorer than their peers without ASD, underscoring the importance of early detection of developmental concerns and targeted treatments.
结节性硬化症(TSC)与适应性问题、行为/情绪问题及自闭症谱系障碍(ASD)的较高风险相关。本研究评估了36个月时患有和未患有ASD诊断的TSC儿童的适应性和行为发育轨迹。
结节性硬化症自闭症卓越研究网络中心对患有TSC的婴儿进行纵向评估。研究了18、24和36个月时的发育情况(早期学习的莫伦量表)、适应性情况(文兰适应行为量表第二版,调查访谈)以及行为/情绪情况(儿童行为检查表)与36个月时ASD临床诊断的关系。
在最终被诊断为ASD的儿童中,从18个月起就观察到所有适应性功能领域的缺陷,但在对发育功能进行调整后,这些缺陷在很大程度上得到了解释,不过ASD患者在36个月时的社交功能较低除外。行为/情绪问题在18或24个月时并无一致差异,但在36个月时,相对于无ASD的同龄人,几乎所有情绪/行为问题领域在ASD儿童中更为严重,即使在对发育功能进行调整后也是如此。这些发现并非归因于癫痫负担。
虽然在36个月之前,患有TSC和ASD的儿童与未患有ASD的TSC儿童在适应性功能方面没有差异,但到36个月时,他们的社会适应能力以及情绪/行为功能明显比无ASD的同龄人差,这凸显了早期发现发育问题和进行针对性治疗的重要性。