ArticleNeurology2016
Symptom profiles of autism spectrum disorder in tuberous sclerosis complex.
Article in Neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 1 of them a synthesis that pooled it.
What it found
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
62 citing papers in PubMed, 1 synthesis or guideline pooled it, 117 citations in OpenAlex.
- Autism and Epilepsy in Patients With Tuberous Sclerosis Complex.Frontiers in neurology · 2020Pooled it
- Attrition in a telehealth caregiver-mediated behavioral intervention for children with tuberous sclerosis complex: A mixed-methods study.Developmental medicine and child neurology · 2026Trial
- A telehealth approach to improving clinical trial access for infants with tuberous sclerosis complex.Journal of neurodevelopmental disorders · 2020Trial
- 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
- Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1.Journal of autism and developmental disorders · 2026Article
- Early motor trajectories in infants at increased genetic likelihood for autism.Frontiers in developmental psychology · 2026Article
- Deep developmental phenotyping in children with tuberous sclerosis complex, with and without autism.Developmental medicine and child neurology · 2025Article
- Behavioral phenotyping identifies autism-like repetitive stereotypies in a Tsc2 haploinsufficient rat model.Behavioral and brain functions : BBF · 2025Article
- Neuronal cell type specific roles for Nprl2 in neurodevelopmental disorder-relevant behaviors.Neurobiology of disease · 2025Article
- Mechanisms of brain overgrowth in autism spectrum disorder with macrocephaly.Frontiers in neuroscience · 2025Review
- Measurement of Developmental and Behavioral Concerns in Toddlers With Tuberous Sclerosis Complex.Pediatric neurology · 2024Article
- Melatonin in Neurodevelopmental Disorders: A Critical Literature Review.Antioxidants (Basel, Switzerland) · 2023Review
- Microtubule Cytoskeletal Network Alterations in a Transgenic Model of Tuberous Sclerosis Complex: Relevance to Autism Spectrum Disorders.International journal of molecular sciences · 2023Article
- Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis.Annals of neurology · 2023Article
- Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex.Human genomics · 2023Article
- Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach.Molecular autism · 2023Article
- Heterogeneity of Autism Characteristics in Genetic Syndromes: Key Considerations for Assessment and Support.Current developmental disorders reports · 2023Review
- Understanding speech and language in tuberous sclerosis complex.Frontiers in human neuroscience · 2023Review
2 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo 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.
methodsMeasures 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.
resultsChildren 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.
conclusionsThis 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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Registered trials
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.