ArticleAutism research : official journal of the International Society for Autism Research2009
Novel clustering of items from the Autism Diagnostic Interview-Revised to define phenotypes within autism spectrum disorders.
Article in Autism research : official journal of the International Society for Autism Research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 1 of them a synthesis that pooled it.
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Who cites it
60 citing papers in PubMed, 1 synthesis or guideline pooled it, 117 citations in OpenAlex.
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- Utilising Behavioural and Sensory Profiles and Associated Perinatal Factors to Identify Meaningful Subgroups in Autism Spectrum Disorder.Journal of autism and developmental disorders · 2025Article
- Subgrouping autism and ADHD based on structural MRI population modelling centiles.Molecular autism · 2025Article
- Machine learning of clinical phenotypes facilitates autism screening and identifies novel subgroups with distinct transcriptomic profiles.Scientific reports · 2025Article
- Investigation of chimeric transcripts derived from LINE-1 and Alu retrotransposons in cerebellar tissues of individuals with autism spectrum disorder (ASD).Scientific reports · 2024Article
- Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome.Journal of autism and developmental disorders · 2024Article
- LINE-1 and Alu methylation signatures in autism spectrum disorder and their associations with the expression of autism-related genes.Scientific reports · 2022Article
- The Role of Transposable Elements of the Human Genome in Neuronal Function and Pathology.International journal of molecular sciences · 2022Review
- Examining Phenotypical Heterogeneity in Language Abilities in Chinese-Speaking Children with Autism: A Naturalistic Sampling Approach.Journal of autism and developmental disorders · 2022Article
- Features that best define the heterogeneity and homogeneity of autism in preschool-age children: A multisite case-control analysis replicated across two independent samples.Autism research : official journal of the International Society for Autism Research · 2022Article
- Multi-faceted semantic clustering with text-derived phenotypes.Computers in biology and medicine · 2021Article
- Imbalanced social-communicative and restricted repetitive behavior subtypes of autism spectrum disorder exhibit different neural circuitry.Communications biology · 2021Article
- Sex differences in the effects of prenatal bisphenol A exposure on autism-related genes and their relationships with the hippocampus functions.Scientific reports · 2021Article
- Clustering Analysis Supports the Detection of Biological Processes Related to Autism Spectrum Disorder.Genes · 2020Article
- Fractionating autism based on neuroanatomical normative modeling.Translational psychiatry · 2020Article
- Differences in Language Ability and Emotional-Behavioral Problems according to Symptom Severity in Children with Autism Spectrum Disorder.Yonsei medical journal · 2020Article
- Phenotypic Subtyping and Re-Analysis of Existing Methylation Data from Autistic Probands in Simplex Families Reveal ASD Subtype-Associated Differentially Methylated Genes and Biological Functions.International journal of molecular sciences · 2020Article
- Exploring the familial role of social responsiveness differences between savant and non-savant children with autism.Scientific reports · 2020Article
- Identification of biological mechanisms underlying a multidimensional ASD phenotype using machine learning.Translational psychiatry · 2020Article
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2 authors at 1 institution in 1 country.
Funding
Abstract
Heterogeneity in phenotypic presentation of Autism spectrum disorders has been cited as one explanation for the difficulty in pinpointing specific genes involved in autism. Recent studies have attempted to reduce the "noise" in genetic and other biological data by reducing the phenotypic heterogeneity of the sample population. The current study employs multiple clustering algorithms on 123 item scores from the Autism Diagnostic Interview-Revised (ADI-R) diagnostic instrument of nearly 2,000 autistic individuals to identify subgroups of autistic probands with clinically relevant behavioral phenotypes in order to isolate more homogeneous groups of subjects for gene expression analyses. Our combined cluster analyses suggest optimal division of the autistic probands into four phenotypic clusters based on similarity of symptom severity across the 123 selected item scores. One cluster is characterized by severe language deficits, while another exhibits milder symptoms across the domains. A third group possesses a higher frequency of savant skills while the fourth group exhibited intermediate severity across all domains. Grouping autistic individuals by multivariate cluster analysis of ADI-R scores reveals meaningful phenotypes of subgroups within the autistic spectrum, which we show, in a related (accompanying) study, to be associated with distinct gene expression profiles.
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