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July 08, 2014; 83 (2) Article

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
First published June 11, 2014, DOI: https://doi.org/10.1212/WNL.0000000000000568
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Abstract

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 social-communication 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 domain-specific pathway to ASD that can inform more targeted interventions for these high-risk infants.

GLOSSARY

ADOS=
Autism Diagnostic Observation Schedule;
AOSI=
Autism Observation Scale for Infants;
ASD=
autism spectrum disorder;
DQ=
developmental quotient;
EL=
expressive language;
FM=
fine motor;
GM=
gross motor;
IRB=
institutional review board;
MSEL=
Mullen Scales of Early Learning;
NVIQ=
nonverbal IQ;
RL=
receptive language;
TSC=
tuberous sclerosis complex;
UCLA=
University of California, Los Angeles;
VIQ=
verbal IQ;
VR=
visual reception

Footnotes

  • Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Received October 9, 2013.
  • Accepted in final form March 31, 2014.
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