Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex

Shafali Spurling Jeste, Joyce Y. Wu, Damla Senturk, Kandice Varcin, Jordan Ko, Brigid McCarthy, Christina Shimizu, Kira Dies, Vanessa Vogel-Farley, Mustafa Sahin, Charles A. Nelson

Research output: Contribution to journalArticlepeer-review

58 Citations (Scopus)


Objective: We performed a longitudinal cohort study of infants with tuberous sclerosis complex (TSC), with the overarching goal of defining early clinical, behavioral, and biological markers of autism spectrum disorder (ASD) in this high-risk population. Methods: Infants with TSC and typically developing controls were recruited as early as 3 months of age and followed longitudinally until 36 months of age. Data gathered at each time point included detailed seizure history, developmental testing using the Mullen Scales of Early Learning, and socialcommunication assessments using the Autism Observation Scale for Infants. At 18 to 36 months, a diagnostic evaluation for ASD was performed using the Autism Diagnostic Observation Schedule. Results: Infants with TSC demonstrated delays confined to nonverbal abilities, particularly in the visual domain, which then generalized to more global delays by age 9 months. Twenty-two of 40 infants with TSC were diagnosed with ASD. Both 12-month cognitive ability and developmental trajectories over the second and third years of life differentiated the groups. By 12 months of age, the ASD group demonstrated significantly greater cognitive delays and a significant decline in nonverbal IQ from 12 to 36 months. Conclusions: This prospective study characterizes early developmental markers of ASD in infants with TSC. The early delay in visual reception and fine motor ability in the TSC group as a whole, coupled with the decline in nonverbal ability in infants diagnosed with ASD, suggests a domainspecific pathway to ASD that can inform more targeted interventions for these high-risk infants.

Original languageEnglish
Pages (from-to)160-168
Number of pages9
Issue number2
Early online date11 Jun 2014
Publication statusPublished - 8 Jul 2014
Externally publishedYes


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