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

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.