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Zinc could treat a rare genetic disorder

Researchers discovered that zinc can restore the functioning of proteins affected by mutations in the GNAO1 gene, leading to severe mental and motor disabilities. By reactivating hydrolysis, zinc enables neurons to communicate correctly with their environment.

SourceUniversité de Genève·JournalScience Advances·TypeNews article·DateOct 10, 2022

Children with rare genetic disorders more likely to be diagnosed with developmental, behavioural and mental health problems

Children with rare genetic disorders are more likely to be diagnosed with developmental, behavioural and mental health problems. A study of 2,800 young people found that those with intellectual disabilities were almost 30 times as likely to be autistic and over 13 times more likely to have ADHD.

SourceUniversity of Cambridge·JournalThe Lancet Psychiatry·TypeObservational study·DateAug 2, 2022

Intelligent wireless walls for contactless in-home monitoring

A team of scientists has developed a reconfigurable intelligent surface (RIS) called 'Intelligent Walls' for controlling electromagnetic waves to monitor human activities remotely. The technology harnesses ambient signals and can track activities like walking, sitting, and standing with high resolution.

Scientists uncover key factor in human brain development

Researchers at Texas A&M University College of Medicine have identified a crucial mechanism driving the evolution of the neocortex, leading to increased intelligence and surface area. This breakthrough understanding contributes to insights into developmental deficits linked to autism spectrum disorders and intellectual disabilities.

SourceTexas A&M University·JournalCell Reports·TypeNews article·DateJun 2, 2022

Protein linked to intellectual disability has complex role

The study found that the fragile X protein regulates the opening and closing of the GABA-A receptor in neurons from the brain's memory center, influencing how such neurons process information. This nuanced understanding may hold the key to developing effective therapies for fragile X syndrome.

SourceWashU Medicine·JournalCell Reports·TypeExperimental study·DateMay 17, 2022

Blood adenosine levels as a potential biomarker of white matter disease in a selected population of very low birth weight premature infants

A study found that high blood adenosine levels at 15 days of life correlated with white matter lesions and brain injury in very low birth weight premature infants. Adenosine may play a role in oligodendrocyte maturation and neuronal development, suggesting its potential as a biomarker for complications of prematurity.

SourceBentham Science Publishers·JournalCurrent Pediatric Reviews·DateMay 13, 2022

Research in brief: Science one step closer to "turning off" seizures, sleep disturbances linked to intellectual disability

Researchers have identified a key brain protein to target for new customized drug therapies treating adverse symptoms of developmental disorder subtypes. The study found that mutations in ARHGEF9 lead to intellectual disability through impaired α2 subunit function, which is a central hub for many neurological symptoms.

Experimental compound, which has received orphan drug and pediatric rare disease designations from the FDA, displays effectiveness in treating symptoms of Autism and Alzheimer’s disease

An experimental drug called NAP has been found effective in treating a broad spectrum of symptoms related to autism, intellectual disability, and Alzheimer's disease. Researchers discovered that NAP normalizes brain function in mice modeling ADNP syndrome, a rare disorder linked to these conditions.

SourceTel-Aviv University·JournalBiological Psychiatry·DateDec 8, 2021

National study aims to document relationship between language and cognition in childhood language disorders

Researchers aim to understand language development in children with developmental language disorder (DLD) and Fragile X syndrome by examining grammar skills and executive functions. The study will gather data on a two-year developmental window, providing comprehensive insights for families and potential improvements in communication.

Excess deaths in people with mental health conditions increased during the COVID-19 pandemic

The study found that deaths from COVID-19 among people with learning disabilities were nine times higher than the general population, while those with eating disorders saw a five-fold increase. The research highlighted the need to prioritize vaccination and physical health care for vulnerable groups during the pandemic.

SourceKing's College London·JournalThe Lancet·TypeData/statistical analysis·DateOct 8, 2021

A genetic brain disease reversed after birth

Researchers at RIKEN Cluster for Pioneering Research have found that Kleefstra syndrome, a genetic disorder leading to intellectual disability, can be reversed after birth. Postnatal treatment with artificially induced GLP production resulted in improved brain and behavioral symptoms.

SourceRIKEN·JournaliScience·DateSep 20, 2021

Report: Autistic individuals have increased risk of COVID-19

Research from Drexel University's Autism Institute identifies higher odds of living in residential facilities, receiving outside caregiver services, and having high-risk health conditions among autistic adults, as well as those with intellectual disability and mental health diagnoses. These groups are more likely to contract COVID-19 a...

SourceDrexel University·JournalAutism·DateAug 30, 2021

Genetic cause of neurodevelopmental disorder discovered

A team of researchers at the University of Maryland School of Medicine has identified a new gene, AP1G1, that is associated with neurodevelopmental disorders and intellectual disabilities. The gene plays a crucial role in transporting essential materials within brain cells, and its disruption can lead to significant developmental delays.

SourceUniversity of Maryland School of Medicine·JournalAmerican Journal of Human Genetics·DateJun 21, 2021

People with disabilities faced pandemic triage biases

A new study found that unconscious biases in emergency triage protocols led to prioritization of able-bodied patients over those with intellectual disabilities. Social workers can act as advocates for these individuals, while educational changes are needed to address structural inequalities and biases.

SourceUniversity of Georgia·JournalDisaster Medicine and Public Health Preparedness·DateMay 4, 2021

Medicinal cannabis may reduce behavioral problems in kids with intellectual disabilities

A pilot study found that cannabidiol significantly reduced irritability, aggression, self-injury, and yelling in children and adolescents with intellectual disabilities. The intervention was safe and well-tolerated by most participants, providing hope for a larger-scale trial to definitively test its effectiveness.

SourceMurdoch Childrens Research Institute·JournalBritish Journal of Clinical Pharmacology·DateJun 24, 2020

New therapeutic targets for treating memory impairment in Down syndrome

A team of researchers has discovered that neural networks relevant to memory and learning are over-activated and connectivity is poor in mice with Down syndrome. Chronic treatment with epigallocatechin gallate improves memory deficits. The study identifies biomarkers in brain rhythms that can predict memory deficits.

SourceIMIM (Hospital del Mar Medical Research Institute)·JournalProceedings of the National Academy of Sciences·DateMay 5, 2020

Five language outcome measures evaluated for intellectual disabilities studies

Researchers developed five language outcome measures using expressive language sampling (ELS) to assess treatment efficacy in individuals with fragile X syndrome and intellectual disabilities. The study found that ELS yielded valid and reliable measures for most participants, but were more challenging for younger or less able individuals.

SourceUniversity of California - Davis Health·JournalJournal of Neurodevelopmental Disorders·DateMar 23, 2020

Researchers adapt cognitive assessment for people with intellectual disability

Researchers adapted the NIH Toolbox Cognitive Battery to assess cognitive ability in people with intellectual disabilities aged 5 years and above, providing objective measures. The validated battery produces reliable and valid results, paving the way for further research on its adaptation for lower mental ages and older adults.