Observational studyAnnals of neurology2021
Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite Study.
Observational study in Annals of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
24 citing papers in PubMed, 34 citations in OpenAlex.
- Genetic architecture of patients with autism spectrum disorder - data analysis based on the literature review.BMC medical genomics · 2026Review
- 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
- Neurodevelopmental and Behavioral Profiles in Children with Tuberous Sclerosis Complex: Exploratory Associations with Epilepsy Onset and Cortical Tuber Burden.Journal of clinical medicine · 2026Article
- Tuberous sclerosis complex.Nature reviews. Disease primers · 2026Review
- Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex.Annals of the Child Neurology Society · 2026Article
- Clinical outcomes following stereotactic MRI-guided laser ablation in children with tuberous sclerosis complex and intractable epilepsy.Epilepsia · 2026Article
- Investigation of risk factors for autism spectrum disorder in children with tuberous sclerosis complex.BMC psychiatry · 2026Article
- Early motor trajectories in infants at increased genetic likelihood for autism.Frontiers in developmental psychology · 2026Article
- Developmental Trajectories of Adaptive Functioning and Behavior Problems in Children With Co-Occurring Tuberous Sclerosis Complex and Autism Spectrum Disorder, With and Without Seizures.Pediatric neurology · 2025Article
- The clinical interface of tuberous sclerosis complex and autism spectrum disorder: insights and future directions.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Genetic changes linked to two different syndromic forms of autism enhance reinforcement learning in early adolescent male but not female mice.bioRxiv : the preprint server for biology · 2025Article
- Genetic advances in neurodevelopmental disorders.Medical review (2021) · 2025Review
- Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in patients with tuberous sclerosis complex.Epilepsia · 2025Article
- Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results.Annals of the Child Neurology Society · 2024Article
- Neuroanatomy of autism: what is the role of the cerebellum?Cerebral cortex (New York, N.Y. : 1991) · 2024Review
- Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures.Journal of child neurology · 2024Article
- International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).Journal of neurodevelopmental disorders · 2023Article
- Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy.Brain : a journal of neurology · 2023Review
- Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis.Annals of neurology · 2023Article
- Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach.Molecular autism · 2023Article
Corrections and comments
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Authors and funding
14 authors at 8 institutions in 1 country.
Funding
Abstract
objectiveTuberous sclerosis complex (TSC) is highly associated with autism spectrum disorder (ASD). Objectives of the study were to characterize autistic features in young children with TSC.
methodsParticipants included 138 children followed from ages 3 to 36 months with TSC from the Tuberous Sclerosis Complex Autism Center of Excellence Research Network (TACERN), a multicenter, prospective observational study aimed at understanding the underlying mechanisms of ASD in TSC. Developmental and autism-specific assessments were administered, and a clinical diagnosis of ASD was determined for all participants at 36 months. Further analyses were performed on 117 participants with valid autism assessments based on nonverbal mental age greater than 15 months.
resultsPrevalence of clinical diagnosis of ASD at 36 months was 25%. Nearly all autistic behaviors on the Autism Diagnostic Observation Schedule-2 (ADOS-2) and Autism Diagnostic Interview-Revised (ADI-R) were more prevalent in children diagnosed with ASD; however, autism-specific behaviors were also observed in children without ASD. Overall quality of social overtures, facial expressions, and abnormal repetitive interests and behaviors were characteristics most likely to distinguish children with ASD from those without an ASD diagnosis. Participants meeting ADOS-2 criteria but not a clinical ASD diagnosis exhibited intermediate developmental and ADOS-2 scores compared to individuals with and without ASD.
interpretationASD is highly prevalent in TSC, and many additional individuals with TSC exhibit a broad range of subthreshold autistic behaviors. Our findings reveal a broader autism phenotype that can be identified in young children with TSC, which provides opportunity for early targeted treatments. ANN NEUROL 2021;90:874-886.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.