Sex and gender in neurodevelopmental conditions

S Bölte, J Neufeld, PB Marschik, ZJ Williams… - Nature Reviews …, 2023 - nature.com
Health-related conditions often differ qualitatively or quantitatively between individuals of
different birth-assigned sexes and gender identities, and/or with different gendered …

[PDF][PDF] Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?

JD Dougherty, N Marrus, SE Maloney, B Yip, S Sandin… - Neuron, 2022 - cell.com
Male sex is a strong risk factor for autism spectrum disorder (ASD). The leading theory for a"
female protective effect"(FPE) envisions males and females have" differing thresholds" …

Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes

V Warrier, EM Stauffer, QQ Huang, EM Wigdor… - Nature …, 2023 - nature.com
Our understanding of the genetics of the human cerebral cortex is limited both in terms of the
diversity and the anatomical granularity of brain structural phenotypes. Here we conducted a …

The contributions of rare inherited and polygenic risk to ASD in multiplex families

M Cirnigliaro, TS Chang, SA Arteaga… - Proceedings of the …, 2023 - National Acad Sciences
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …

[HTML][HTML] Genomic findings in schizophrenia and their implications

MJ Owen, SE Legge, E Rees, JTR Walters… - Molecular …, 2023 - nature.com
There has been substantial progress in understanding the genetics of schizophrenia over
the past 15 years. This has revealed a highly polygenic condition with the majority of the …

Mental health challenges faced by autistic people

MC Lai - Nature Human Behaviour, 2023 - nature.com
Mental health challenges impede the well-being of autistic people. This Review outlines
contributing neurodevelopmental and physical health conditions, rates and developmental …

[PDF][PDF] Mouse population genetics phenocopies heterogeneity of human Chd8 haploinsufficiency

M Tabbaa, A Knoll, P Levitt - Neuron, 2023 - cell.com
Preclinical models of neurodevelopmental disorders typically use single inbred mouse
strains, which fail to capture the genetic diversity and symptom heterogeneity that is common …

[HTML][HTML] The foundations of autistic flourishing

E Pellicano, M Heyworth - Current Psychiatry Reports, 2023 - Springer
Abstract Purpose of Review All people—including Autistic people—deserve to live
flourishing lives. But what does a flourishing life look like for Autistic people? We suggest …

[HTML][HTML] Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome

A Vitrac, CS Leblond, T Rolland, F Cliquet… - European journal of …, 2023 - Elsevier
SHANK3-related Phelan-McDermid syndrome (PMS) is caused by a loss of the distal part of
chromosome 22, including SHANK3, or by a pathological SHANK3 variant. There is an …

[HTML][HTML] A systematic review of non-coding RNA genes with differential expression profiles associated with autism spectrum disorders

J Stott, T Wright, J Holmes, J Wilson, S Griffiths-Jones… - Plos one, 2023 - journals.plos.org
Aims To identify differential expression of shorter non-coding RNA (ncRNA) genes
associated with autism spectrum disorders (ASD). Background ncRNA are functional …