ArticleGenome medicine2015
An assessment of sex bias in neurodevelopmental disorders.
Article in Genome medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 2 of them syntheses that pooled it.
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Who cites it
71 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Emerging behavioral and neuroimaging biomarkers for early and accurate characterization of autism spectrum disorders: a systematic review.Translational psychiatry · 2021Pooled it
- Prevalence of Autism Spectrum Disorder and Co-morbidities in Children and Adolescents: A Systematic Literature Review.Frontiers in psychiatry · 2021Pooled it
- Motor Impairment in Children with 16p11.2-Deletion and -Duplication Syndromes.Journal of autism and developmental disorders · 2026Article
- Phenotypic spectrum of 1q21.1 copy number variants in 42 children: genotype-phenotype correlations and clinical implications.European journal of pediatrics · 2026Article
- Trends in Parent-Reported Developmental Disabilities: 2019-2024.Pediatrics · 2026Article
- Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders-the DDD-Africa study.European journal of human genetics : EJHG · 2026Article
- Neurodevelopmental copy-number variants increase risk of internalizing and cardiometabolic multimorbidity: Findings from the UK Biobank.American journal of human genetics · 2026Article
- The inactive X chromosome as a female protector in autism and beyond.Nature genetics · 2026Review
- Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders - the DDD-Africa study.medRxiv : the preprint server for health sciences · 2026Article
- Explicit Applicability Domain Calculations Can Help Determine When Uncertainty Estimates Are Less Reliable.ACS omega · 2026Article
- Pathological Insights into Neurodegenerative and Neurodevelopmental Disorders: Perspectives for the Development of Novel Treatment Approaches.CNS & neurological disorders drug targets · 2026Review
- Maternal Apocynin During Experimental Preeclampsia Prevents BBB Permeability and Increased Vascular Tone of Cerebral Arteries in Male but Not Female Rat Adult Offspring.Microcirculation (New York, N.Y. : 1994) · 2026Article
- Neurodevelopmental Trajectories at 3 Years: Insights From the NASCITA Italian Birth Cohort.International journal of pediatrics · 2026Article
- Burden of Neurodevelopmental Disorders in Kenyan Children.JAMA network open · 2025Article
- The inactive X chromosome as a female protector in autism and beyond.Research square · 2025Article
- Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.Genome medicine · 2025Article
- Neurodevelopmental status of children aged 12 to 60 months conceived with artificial oocyte activation in a Cross-Sectional study.Scientific reports · 2025Article
- The transcriptome of playfulness is sex biased in the juvenile rat medial amygdala: A role for inhibitory neurons.Cell reports · 2025Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism.Genome medicine · 2024Article
11 more citing papers are in PubMed but not listed here.
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3 authors.
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Abstract
backgroundNeurodevelopmental disorders such as autism and intellectual disability have a sex bias skewed towards boys; however, systematic assessment of this bias is complicated by the presence of significant genetic and phenotypic heterogeneity of these disorders.
methodsTo assess the extent and characteristics of sex bias, we analyzed the frequency of comorbid features, the magnitude of genetic load, and the existence of family history within 32,155 individuals ascertained clinically for autism or intellectual disability/developmental delay (ID/DD), including a subset of 8,373 individuals carrying rare copy-number variants (CNVs).
resultsWe find that girls were more likely than boys to show comorbid features within both autism (P = 2.9 × 10(-6), OR = 1.34) and ID/DD (P = 7.2 × 10(-4), OR = 1.08) cohorts. The frequency of comorbid features in ID/DD was higher in boys (1q21.1 deletion, 15q11.2q13.1 duplication) or girls (15q13.3 deletion, 16p11.2 deletion) carrying specific CNVs associated with variable expressivity while such differences were the smallest for syndromic CNVs (Smith-Magenis syndrome, DiGeorge syndrome). The extent of the male sex bias also varied according to the specific comorbid feature, being most extreme for autism with psychiatric comorbidities and least extreme for autism comorbid with epilepsy. The sex ratio was also specific to certain CNVs, from an 8:1 male:female ratio observed among autistic individuals carrying the 22q11.2 duplication to 1.3:1 male:female ratio in those carrying the 16p11.2 deletion. Girls carried a higher burden of large CNVs compared to boys for autism or ID/DD, and this difference diminished when severe comorbidities were considered. Affected boys showed a higher frequency of neuropsychiatric family histories such as autism (P = 0.01) or specific learning disability (P = 0.03), while affected girls showed a higher frequency of developmental family histories such as growth abnormalities (P = 0.02).
conclusionsThe sex bias within neurodevelopmental disorders is influenced by the presence of specific comorbidities, specific CNVs, mutational burden, and pre-existing family history of neurodevelopmental phenotypes.
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