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Updated: Mar 17, 2026
Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder
Published on: April 22, 2015
Symptom profiles of autism spectrum disorder in tuberous sclerosis complex
Shafali S Jeste1, Kandice J Varcin2, Gerhard S Hellemann2
1From the UCLA Semel Institute of Neuroscience and Human Behavior (S.S.J., G.S.H., A.C.G., R.B., C.K.) and Division of Pediatric Neurology, Mattel Children's Hospital UCLA (R.B., J.Y.W.), David Geffen School of Medicine, Los Angeles, CA; Laboratories of Cognitive Neuroscience, Division of Developmental Medicine (K.J.V., C.A.N.), and F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology (M.S.), Boston Children's Hospital/Harvard Medical School; and Harvard Graduate School of Education (C.A.N.), Harvard University, Cambridge, MA. sjeste@mednet.ucla.edu.
Insights
Autism spectrum disorder (ASD) symptoms in toddlers with tuberous sclerosis complex (TSC) closely mirror those in toddlers with nonsyndromic ASD. Early intervention targeting social communication is crucial for toddlers with TSC.
Area of Science:
- Neurodevelopmental disorders
- Pediatric neurology
- Genetics and rare diseases
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder associated with an increased risk of autism spectrum disorder (ASD).
- Understanding the specific deficits in toddlers with TSC and comorbid ASD is crucial for targeted interventions.
- Previous research has explored ASD risk factors in children with TSC, with this study providing endpoint analysis.
Purpose of the Study:
- To compare autism spectrum disorder (ASD) deficits in toddlers with tuberous sclerosis complex (TSC) and comorbid ASD to those in toddlers with nonsyndromic ASD (nsASD).
- To examine cognitive function and epilepsy severity in toddlers with TSC and ASD.
- To analyze the overlap in social communication and repetitive behavior symptoms.
Main Methods:
- Longitudinal investigation utilizing the Autism Diagnostic Observation Schedule (ADOS) and Mullen Scales of Early Learning.
- Repeated-measures analysis of variance comparing groups: typically developing, TSC/no ASD, TSC/ASD, and nsASD.
- Independent-samples t tests to compare epilepsy characteristics and cognitive domains within the TSC group.
Main Results:
- Children with TSC and ASD exhibited social communication impairments that completely converged with those seen in nonsyndromic ASD (nsASD).
- Specific social communication deficits included impairments in gestures, pointing, eye contact, responsive social smile, and shared enjoyment.
- This symptom convergence persisted despite the high rate of cognitive impairment in toddlers with TSC and ASD.
Conclusions:
- The findings support the clinical diagnosis of ASD in young children with TSC, showing significant symptom overlap with nsASD.
- Early intervention for toddlers with TSC is strongly recommended, focusing on social communication and broader developmental areas.
- Intervention strategies should be implemented before the emergence of overt autism symptoms to improve outcomes.
Objective:
To determine the extent to which deficits associated with autism spectrum disorder (ASD) in toddlers with tuberous sclerosis complex (TSC) overlap with those in toddlers with nonsyndromic ASD (nsASD) and to examine cognitive function and epilepsy severity in toddlers with TSC and comorbid ASD. This is the endpoint analysis from a longitudinal investigation of ASD risk factors in children with TSC.
Methods:
Measures included the Autism Diagnostic Observation Schedule (ADOS), the Mullen Scales of Early Learning, and clinical epilepsy variables. A repeated-measures analysis of variance was performed with between-subjects factor of group (typically developing, TSC/no ASD, TSC/ASD, nsASD) and within-subjects factors of individual ADOS item scores in the social communication and repetitive behavior/restricted interest domains. Within the TSC group, comparisons of epilepsy characteristics and cognitive domains were performed using independent-samples t tests.
Results:
Children with TSC/ASD demonstrated a profile of social communication impairment that had complete convergence with nsASD. Measured social communication impairments included gestures, pointing, eye contact, responsive social smile, and shared enjoyment. This convergence was observed despite the high comorbidity between ASD and cognitive impairment in TSC.
Conclusions:
This study supports the clinical diagnosis of ASD in young children with TSC and demonstrates remarkable convergence of autism symptoms between TSC/ASD and nsASD. Our results strongly suggest the need for early intervention in toddlers with TSC, with treatment strategies targeting social communication function as well as broader developmental domains, before the onset of autism symptoms.
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