ArticleOrphanet journal of rare diseases2015
Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers.
Article in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 3 of them syntheses that pooled it.
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Who cites it
47 citing papers in PubMed, 3 syntheses or guidelines pooled it, 93 citations in OpenAlex.
- Burden of illness in tuberous sclerosis complex-associated epilepsy: a systematic literature review of epidemiology, health-related quality of life, costs and resource use.Orphanet journal of rare diseases · 2025Pooled it
- A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC).Orphanet journal of rare diseases · 2020Pooled it
- Autism and Epilepsy in Patients With Tuberous Sclerosis Complex.Frontiers in neurology · 2020Pooled it
- Influence of seizures on early development in tuberous sclerosis complex.Epilepsy & behavior : E&B · 2017Trial
- A two-step temporal data augmentation and supervised learning framework for predicting autism diagnosis at 36 months in patients with tuberous sclerosis complex.Computers in biology and medicine · 2026Article
- The interactions between sleep difficulties and clinical features in children with rare genetic syndromes: a structural equation modelling approach.BMC pediatrics · 2026Article
- Approaches for identification of 5' UTR mutations impacting translation and protein production from neurodevelopmental disorder genes.Cell reports methods · 2025Article
- Mechanisms of brain overgrowth in autism spectrum disorder with macrocephaly.Frontiers in neuroscience · 2025Review
- Antiseizure Medications: Advancements, Challenges, and Prospects in Drug Development.Current neuropharmacology · 2025Review
- Central nervous system manifestations of tuberous sclerosis complex: A single centre experience in Qatar.Saudi medical journal · 2024Article
- Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience.Neurosciences (Riyadh, Saudi Arabia) · 2024Article
- The prevalence of autism among children with albinism.European journal of ophthalmology · 2024Article
- Mechanistic insight of curcumin: a potential pharmacological candidate for epilepsy.Frontiers in pharmacology · 2024Review
- A Massively Parallel Screen of 5'UTR Mutations Identifies Variants Impacting Translation and Protein Production in Neurodevelopmental Disorder Genes.medRxiv : the preprint server for health sciences · 2023Article
- The intersection of genome, epigenome and social experience in autism spectrum disorder: Exploring modifiable pathways for intervention.Neurobiology of learning and memory · 2023Article
- Role of Type I Interferon Signaling and Microglia in the Abnormal Long-term Potentiation and Object Place Recognition Deficits of Male Mice With a Mutation of the Tuberous Sclerosis 2 Gene.Biological psychiatry global open science · 2023Article
- Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex.Pediatric neurology · 2023Observational
- Heterogeneity of Autism Characteristics in Genetic Syndromes: Key Considerations for Assessment and Support.Current developmental disorders reports · 2023Review
- Sex-Dependent Social and Repetitive Behavior and Neurochemical Profile in Mouse Model of Autism Spectrum Disorder.Metabolites · 2022Article
- mTOR-Dependent Spine Dynamics in Autism.Frontiers in molecular neuroscience · 2022Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeuropsychiatric disorders are present in up to 90% of patients with Tuberous Sclerosis Complex (TSC), and represent an important issue for families. Autism Spectrum Disorder (ASD) is the most common neurobehavioral disease, affecting up to 61% of patients. The aims of this study were: 1) to assess the prevalence of ASD in a TSC population; 2) to describe the severity of ASD; 3) to identify potential risk factors associated with the development of ASD in TSC patients.
methodsWe selected 42 individuals over age 4 years with a definite diagnosis of TSC and followed at a TSC clinic in Northern Italy. We collected and reported clinical and genetic data, as well as cognitive level, for each of them. We administered the Social Communication Questionnaire (SCQ) as a reliable screening tool for ASD, and performed comparisons between the average scores and each clinical and genetic feature.
resultsSeventeen out of 42 patients (40.5%) had a score at the SCQ suggestive of ASD (≥15 points). When calculated for each cognitive level category, the average SCQ score tended to be progressively higher in patients with a worse cognitive level, and the number of pathological SCQ scores increased with worsening of intellectual disability. With respect to ASD severity, the scores were equally distributed, indicating that the degree of ASD in TSC patients may have a large variability. By comparing the average SCQ scores with the clinical features, we found statistically significant correlations with epilepsy, seizure onset before age one year, spasms, mutations in TSC2, cognitive level, sleep disorders, and other psychiatric problems, but not with seizure frequency, tubers localization and gender.
conclusionsOur study showed a prevalence of ASD of 40.5%, confirming the higher risk for this disorder in patients with TSC. However, the severity seems to have a notable variability in TSC patients. Risk factors for ASD are epilepsy, infantile spams, and mutations in TSC2.
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