neurodevelopmental-disorders

Nature Communications, Published online: 01 May 2026; doi:10.1038/s41467-026-72598-z Genetic variants can lead to variable outcomes in neurodevelopmental disorders. Here, the authors show that the 16p12.1 deletion and genetic background jointly shape chromatin regulation and neurodevelopmental phenotypes, explaining variable disease expressivity.

X-linked intellectual disability (XLID) is a well-recognized group of neurodevelopmental disorders, with pathogenic variants in X-chromosomal genes accounting for approximately 16% of intellectual disability cases in males. Clinical expression in females is variable and depends on patterns of X-chromosome inactivation. We describe three affected individuals from a single family with XLID caused b…

Hearing tests administered to most newborn babies in Michigan could hold clues to which ones might later be diagnosed with neurodevelopmental conditions, such as autism spectrum disorder. Such a finding could identify at-risk children who could benefit from early interventions, and support their participation in family, school, and community activities, said Nicole Talge, a College of … The post …

BackgroundAutism spectrum disorder (ASD) is a complex neurodevelopmental condition often accompanied by gastrointestinal (GI) symptoms. Inflammatory proteins in stool have been proposed as potential biomarkers, but evidence remains inconsistent. We compared fecal levels of α1-antitrypsin (A1AT), immunoglobulin A (IgA), and calprotectin (Cal) in 57 children with ASD and 57 biological siblings with…

Three studies published in Nature Genetics look at the identification of a common recessive neurodevelopmental disorder (NDD). Cornelius Gross, Head of EMBL, Rome, said: “This study is a significant advance in understanding neurodevelopment disorders because it identifies a set of surprisingly common recessive disease mutations in the dark genome – the 98% of our genome that is non-coding. Tracki…

IntroductionCerebral Palsy (CP) is characterized by permanent, non-degenerative motor function deficits with increasing evidence of genetic contributions. Although prenatal and perinatal risk factors are well recognized, the underlying etiopathology remains incompletely understood. This study aimed to improve diagnostic accuracy and elucidate the genetic architecture of CP and CP-like phenotypes …

A study published in JAMA Network Open looks at parental valproate use and neurodevelopmental disorders in offspring.  Dr Channa Jayasena, Associate Professor … read more

Air pollution has long been linked to respiratory and cardiovascular disease, but over the past decade, neuroscience has begun uncovering another, less visible consequence: its effect on the developing brain. Increasing evidence now suggests that maternal exposure to fine particulate matter during pregnancy, particularly PM2.5, may contribute to neurodevelopmental disorders such as autism spectru…

Scientists have implemented a novel gene-editing approach that may be an effective treatment for alternating hemiplegia of childhood (AHC), a rare neurodevelopmental disorder in children, according to a recent study published in Cell. The post Successful Gene Editing Demonstrated for a Rare Neurodevelopmental Disorder appeared first on News Center .

Researchers at Washington University School of Medicine in St. Louis have received an $11.85 million grant to create a resource for the WashU and national research communities to study the growing number of neurodevelopmental and psychiatric disorders known to be caused by a single gene mutation. Funded by the National Institute of Mental Health of […]

Neurodevelopmental disorders (NDDs) are a group of conditions affecting brain development and function. While genetic factors play a significant role, traditional methods often fail to identify the underlying cause. This is where a powerful new technique called optical genome mapping (OGM) offers a fresh perspective on NDD diagnosis. Current methods like short-read sequencing struggle to [..] The…

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder. It can be diagnosed as early as the age of 2, although some adults with milder symptoms live undiagnosed. Males are four times more likely to develop a form of autism than females. ASD is complex, and there is a lot of false information out there. ... Read more The post The Truth About Autism appeared first on Evolution Re…

Autism, ADHD, learning disabilities, developmental delays and intellectual retardation are among the neurodevelopmental disorders that extract an enormous emotional, mental and financial toll in terms of compromised quality of life and lifelong disability. Additionally, these require special education, psychological and medical support services that drain resources and contribute to further stres…