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From Infancy to Early School Age: Longitudinal Developmental Outcomes and Autism Diagnostic Stability in Tuberous
Jamie K Capal1, David M Ritter1, Paul S Horn1
1Cincinnati Children's Hospital Medical Center, Department of Neurology, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Insights
Tuberous sclerosis complex (TSC) in children shows stable neurodevelopmental outcomes and autism spectrum disorder (ASD) diagnosis over time. Early assessments predict later development, but social impairments may be missed.
Area of Science:
- Neurodevelopmental disorders
- Pediatric neurology
- Genetics
Background:
- Tuberous sclerosis complex (TSC) is linked to intellectual disability, autism spectrum disorder (ASD), and neuropsychiatric conditions.
- Previous studies focused on early neurodevelopmental outcomes in TSC infants and toddlers.
Purpose of the Study:
- To examine longer-term developmental trajectories in children with TSC.
- To assess the diagnostic stability of ASD in this cohort over time.
Main Methods:
- Longitudinal neurodevelopmental assessments were conducted on children with TSC.
- Data from the TSC Autism Center of Excellence Research Network and Rare Diseases Clinical Research Network were utilized.
- Analyses compared outcomes by ASD status, sex, and adaptive functioning.
Main Results:
- 48% of participants met ASD criteria, with diagnosis stability observed in most.
- Cognitive and adaptive functioning scores were generally delayed but stable.
- Lower adaptive functioning correlated with ASD diagnosis and increased social/behavioral impairment.
Conclusions:
- Early neurodevelopmental assessments in TSC predict later outcomes.
- While ASD diagnosis is stable, subtle social impairments require attention.
- Longitudinal screening for TSC-associated neuropsychiatric disorders is crucial for early intervention.
Background:
Tuberous sclerosis complex (TSC) is associated with intellectual disability (ID), autism spectrum disorder (ASD), and TSC-associated neuropsychiatric disorders. Early prospective studies have characterized neurodevelopmental outcomes in infants and toddlers with TSC. Leveraging longitudinal data from the TSC Autism Center of Excellence Research Network and the Rare Diseases Clinical Research Network, we examined longer-term developmental trajectories and ASD diagnostic stability in a cohort of children with TSC.
Methods:
Participants were originally enrolled in TSC Autism Center of Excellence Research Network and followed through 36 months and then subsequently enrolled in Rare Diseases Clinical Research Network for continued follow-up. Longitudinal neurodevelopmental assessments were performed. Analyses focused on participants' most recent assessment to accommodate study overlap and missing data. Outcomes were compared by ASD status, sex, and adaptive functioning.
Results:
Thirty-two participants with TSC (50% female; mean age 4.5 years) were included. Cognitive and adaptive functioning scores were generally in the delayed range and remained relatively stable over time. At the most recent visit, 48% met criteria for ASD, with ASD diagnosis remaining stable in most participants. Lower adaptive functioning was significantly associated with ASD diagnosis (P = 0.016) and greater social and behavioral impairment. Females demonstrated significantly higher levels of social impairment on the Social Responsiveness Scale, Second Edition compared to males, even after adjusting for ASD diagnosis.
Conclusions:
Early cognitive and adaptive assessments in children with TSC inform later neurodevelopmental outcomes. While ASD diagnosis is largely stable over time, subtle social impairments may be under-recognized. Routine, longitudinal screening for TSC-associated neuropsychiatric disorders symptoms is essential to support timely identification and intervention in TSC.
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