ArticleArchives of disease in childhood2011
Autism, language and communication in children with sex chromosome trisomies.
Article in Archives of disease in childhood, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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
82 citing papers in PubMed, 2 syntheses or guidelines pooled it, 182 citations in OpenAlex.
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature.European journal of pediatrics · 2014Pooled it
- Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome.Journal of neurodevelopmental disorders · 2018Trial
- Are There Sex or Gender Differences in Autistic Characteristics? An Umbrella Systematic Review.Journal of autism and developmental disorders · 2026Article
- Jacob's Syndrome and Hearing Loss: A Case Study.Clinical case reports · 2026Article
- Xp22.33 Duplication Encompassing PAR1 in a Male with Syndromic Neurodevelopmental Disorder and Tall Stature.Genes · 2026Article
- Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center.Molecular genetics & genomic medicine · 2026Article
- Prevalence and Application of Speech-Language Therapy in Individuals With Klinefelter Syndrome: A Scoping Review.Cureus · 2025Review
- Social communication skills profile in infants with sex chromosome trisomy at 12 months of age.Infant behavior & development · 2025Article
- A qualitative exploration of experiences of gender identity and gender questioning among adults with Klinefelter syndrome/XXY.Journal of genetic counseling · 2025Article
- Article
- Review
- X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes.Journal of neurodevelopmental disorders · 2024Article
- Social Communication in Young Children With Sex Chromosome Trisomy (XXY, XXX, XYY): A Study With Eye Tracking and Heart Rate Measures.Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists · 2024Article
- Between Dysbiosis, Maternal Immune Activation and Autism: Is There a Common Pathway?Nutrients · 2024Review
- Towards Biomarkers for Autism Spectrum Disorder: Contributions of Magnetoencephalography (MEG).Advances in neurobiology · 2024Review
- Genetic outcomes in children with developmental language disorder: a systematic review.Frontiers in pediatrics · 2024Review
- Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review.Endocrine connections · 2023Review
- Structural and pragmatic language in young children with sex chromosome trisomy (XXX, XXY, XYY): Predictive value for neurobehavioral problems one year later.The Clinical neuropsychologist · 2023Article
- Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome.Journal of neurodevelopmental disorders · 2023Article
22 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
14 authors at 7 institutions in 1 country.
Funding
Abstract
purposeSex chromosome trisomies (SCTs) are found on amniocentesis in 2.3-3.7 per 1000 same-sex births, yet there is a limited database on which to base a prognosis. Autism has been described in postnatally diagnosed cases of Klinefelter syndrome (XXY karyotype), but the prevalence in non-referred samples, and in other trisomies, is unclear. The authors recruited the largest sample including all three SCTs to be reported to date, including children identified on prenatal screening, to clarify this issue.
designParents of children with a SCT were recruited either via prenatal screening or via a parental support group, to give a sample of 58 XXX, 19 XXY and 58 XYY cases. Parents were interviewed using the Vineland Adaptive Behavior Scales and completed questionnaires about the communicative development of children with SCTs and their siblings (42 brothers and 26 sisters).
resultsRates of language and communication problems were high in all three trisomies. Diagnoses of autism spectrum disorder (ASD) were found in 2/19 cases of XXY (11%) and 11/58 XYY (19%). After excluding those with an ASD diagnosis, communicative profiles indicative of mild autistic features were common, although there was wide individual variation.
conclusionsAutistic features have not previously been remarked upon in studies of non-referred samples with SCTs, yet the rate is substantially above population levels in this sample, even when attention is restricted to early-identified cases. The authors hypothesise that X-linked and Y-linked neuroligins may play a significant role in the aetiology of communication impairments and ASD.
Indexed as
Identifiers
What OpenQuestion holds
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.