Related Experiment Video

Updated: Jul 7, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

Correlation of autism with temporal tubers in tuberous sclerosis complex

Kavitha Kothur1, Munni Ray, Prahbhjot Malhi

  • 1Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Neurology India
|March 4, 2008
PubMed

Insights

Tuberous sclerosis complex (TSC), a genetic disorder, is linked to autism in 1-4% of cases. Specific brain lesions (temporal tubers) are more common in TSC patients with autism, suggesting a potential diagnostic marker.

Area of Science:

  • Neurogenetics
  • Developmental Neuroscience
  • Pediatric Neurology

Background:

  • Tuberous sclerosis complex (TSC) is an inherited disorder affecting multiple organs, frequently causing neuropsychiatric issues.
  • Autism Spectrum Disorder (ASD) affects 1-4% of individuals with TSC, with mental retardation and seizures being key risk factors.
  • Understanding the neurobiological underpinnings of TSC-associated autism is crucial for diagnosis and management.

Observation:

  • This report details two cases of TSC presenting with autism.
  • Clinical and neuroimaging data were collected for both patients.
  • Specific attention was given to the presence and location of cortical tubers.

Findings:

  • Patients with TSC and autism exhibited distinct neuroimaging findings compared to those without autism.
  • Temporal tubers were identified more frequently in TSC patients diagnosed with autism.
  • These findings suggest a potential correlation between specific lesion locations and the co-occurrence of TSC and autism.

Implications:

  • Identifying specific neuroimaging markers like temporal tubers could aid in the early diagnosis of autism in TSC patients.
  • Further research into the relationship between TSC, tubers, and autism may reveal underlying pathogenic mechanisms.
  • This understanding can inform targeted interventions and improve outcomes for individuals with TSC and co-occurring autism.

More Related Videos

Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder09:13

Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder

Published on: April 22, 2015

Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
Pedigree Analysis01:35

Pedigree Analysis

Overview