ArticleTranslational psychiatry2019
Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN.
Article in Translational psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
68 citing papers in PubMed, 1 synthesis or guideline pooled it, 113 citations in OpenAlex.
- Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics.Journal of neurodevelopmental disorders · 2022Pooled it
- A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.Human molecular genetics · 2022Trial
- Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- The Microbiota in the Diagnosis and Treatment of Autism Spectrum Disorder.International journal of molecular sciences · 2026Review
- Variant-resolved prediction of context-specific isoform variation with a graph-based attention model.Cell genomics · 2026Article
- Knockdown of Ddx3x in mPFC induces autistic-like phenotype in mice via altered synaptic plasticity.Translational psychiatry · 2026Article
- Voluntary running reduces loss of PTEN-deficient Purkinje cells, modulates their metabolic signaling, and improves motor deficits in mice.Frontiers in cellular neuroscience · 2026Article
- Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities.Frontiers in genetics · 2026Article
- A Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case Report.Cureus · 2026Article
- Mapping rare protein-coding variants on multi-organ imaging traits.Nature communications · 2025Article
- Altered Primary Somatosensory Neuron Development in a Pten Heterozygous Model for Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2025Article
- Neurodevelopmental and Neurologic Manifestations ofNeurology. Genetics · 2025Review
- Review
- Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints.American journal on intellectual and developmental disabilities · 2025Article
- Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change.American journal on intellectual and developmental disabilities · 2025Article
- Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR Pathway.medRxiv : the preprint server for health sciences · 2025Article
- PTEN deficiency in postnatally developing Purkinje cells disrupts metabolic signaling, leading to dendritic abnormalities and sex-specific behavioral deficits.Scientific reports · 2025Article
- Altered Expression of MeCP2 and PTEN Genes in the Molecular Basis of Specific Learning Disorder.Journal of molecular neuroscience : MN · 2025Article
- Review
- Calcitriol Modulates Hippocampal Axon Guidance Through Enhanced EfnA4-Mediated PI3K/AKT Signaling in an Autism Mouse Model.CNS neuroscience & therapeutics · 2025Article
8 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 1 country.
Funding
Abstract
Germline mutations in PTEN, the gene that encodes phosphatase and tensin homolog, have been identified in up to 20% of children with autism spectrum disorder (ASD) and macrocephaly and are associated with marked abnormalities in the white matter of the brain. This study sought to characterize the neurobehavioral phenotype of PTEN-ASD. Comprehensive neurobehavioral evaluations were conducted in 36 participants (ages 3-21 years) with PTEN-ASD and compared to two groups of controls: non-syndromic ASD with macrocephaly (Macro-ASD, n = 25) and those with PTEN mutations without ASD (PTEN-no ASD, n = 23). Linear regression analysis or Kruskal-Wallis tests were used to examine group differences on neurobehavioral measures (cognitive, behavioral, sensory, and adaptive functioning) and, for select measures, one-sample t-tests were used to compare group performance to healthy control norms. These analyses revealed a distinct neuropsychological profile associated with mutations in PTEN suggesting primary disruption of frontal lobe systems (i.e., attention, impulsivity, reaction time, processing speed, and motor coordination). Cognitive deficits in PTEN-ASD are more severe than those in PTEN-no ASD and extend to other areas of neurobehavioral function, specifically, adaptive behavior and sensory deficits. While core ASD symptoms are similar in PTEN-ASD and Macro-ASD, PTEN-ASD had lower clinical ratings of autism severity and showed more sensory abnormalities suggestive of less sensory responsiveness. Together, these results suggest that PTEN-ASD has a distinct neurobehavioral phenotype compared to idiopathic ASD that is likely to warrant special consideration for overall assessment and treatment.
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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.