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

Shafali Spurling Jeste1, Joyce Y Wu2, Damla Senturk2

  • 1From the Departments of Psychiatry and Neurology (S.S.J.), and Department of Psychiatry (J.K., B.M., C.S.), UCLA Semel Institute of Neuroscience and Human Behavior, Los Angeles, CA; Division of Pediatric Neurology (J.Y.W.), Mattel Children's Hospital, UCLA, Los Angeles; Department of Biostatistics (D.S.), School of Public Health, UCLA, Los Angeles; and Laboratories of Cognitive Neuroscience (K.V., V.V.-F., C.A.N.), Division of Developmental Medicine, Department of Neurology (K.D.), F.M. Kirby Neurobiology Center (M.S.), Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA. Sjeste@mednet.ucla.edu.

Neurology
|June 13, 2014
PubMed

Insights

Infants with tuberous sclerosis complex (TSC) show early nonverbal delays. Those diagnosed with autism spectrum disorder (ASD) experience further cognitive decline, suggesting specific pathways for targeted interventions.

Area of Science:

  • Neurodevelopmental disorders
  • Pediatric neurology
  • Autism research

Background:

  • Tuberous sclerosis complex (TSC) is a genetic disorder associated with increased risk of autism spectrum disorder (ASD).
  • Early identification of ASD markers in infants with TSC is crucial for timely intervention.

Purpose of the Study:

  • To define early clinical, behavioral, and biological markers of ASD in infants with TSC.
  • To identify predictive developmental trajectories for ASD in this high-risk population.

Main Methods:

  • Longitudinal cohort study of infants with TSC and typically developing controls from 3 to 36 months.
  • Developmental assessments included Mullen Scales of Early Learning and Autism Observation Scale for Infants.
  • Diagnostic evaluation for ASD using the Autism Diagnostic Observation Schedule.

Main Results:

  • Infants with TSC exhibited early nonverbal delays, particularly in visual reception and fine motor skills.
  • Twenty-two of 40 infants with TSC were diagnosed with ASD.
  • The ASD group showed greater cognitive delays by 12 months and a decline in nonverbal IQ from 12 to 36 months.

Conclusions:

  • Early delays in visual and motor abilities are characteristic of infants with TSC.
  • A decline in nonverbal ability by 12 months predicts ASD diagnosis in infants with TSC.
  • Findings suggest a domain-specific pathway to ASD in TSC, informing targeted interventions.
Abstract

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