Articles tagged with Developmental Disorders
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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.
Researchers discovered that hair follicle stem cells play a key role in healing skin blisters, which delays the growth of hair follicles in regenerated skin tissue. This balance between wound healing and development has implications for treating epidermolysis bullosa, pemphigoid diseases and other blistering conditions.
Research has found that strict lockdowns during the COVID-19 pandemic delayed normal cardiorespiratory development in adolescents. The study, which involved 89 children aged 12-14 from Spain, found lower levels of fitness and health based on age and sex.
A new study found that autistic adults are often misjudged due to stereotypical behaviors, leading to disadvantage in the legal system. The researchers argue that these behaviors can be misinterpreted by judges and juries, resulting in harsher sentences for autistic individuals.
Researchers developed a computational model to simulate cell division and apoptosis in the cerebral cortex, finding that early cell death influences brain structure. The study replicated various brain structures in rats, macaques, and humans.
Researchers identify a new genetic disease causing delayed intellectual development and cataracts in children, with the COPB1 gene variant as the underlying cause. The study uses tadpoles to mimic human gene variants, demonstrating the link between the gene and disease.
Individuals with ADHD earn 17% less than controls, finds study analyzing 1.2 million Swedish high school graduates. Higher rates of comorbid developmental disorders and intellectual disability exacerbate the occupational burden.
A new DNA biomarker method can screen pregnant women for prenatal environmental contaminants, predicting childhood developmental disorders and chronic illness. The approach has the potential to prevent health problems through early identification of high-risk children.
A study published in Child Development has linked children at risk for developmental coordination disorder (DCD) to difficulties with auditory time perception, crucial for basic skills like walking and processing speech. The research suggests that music with salient beats could be used as a therapy to help treat children with DCD.
A study published in JAACAP found associations between physical discipline, cognitive deprivation, and specific types of developmental delay. The research indicates that physical discipline is linked to a higher risk of socioemotional delay, while cognitive deprivation is associated with cognitive delay.
The global Phase 2/3 study with orally-administered opaganib in patients hospitalized with severe COVID-19 pneumonia has received a second unanimous recommendation to continue, based on an analysis of unblinded safety data from the first 155 patients treated for 14 days. Enrollment is over 60% complete and top-line data expected in Q1/...
Researchers found that maternal immune activation induces sustained changes in fetal microglia motility, contributing to developmental disorders and schizophrenia. Microglial process motility changes remained after birth and were linked to social behavior deficits characteristic of autism spectrum disorders.
A new study explores the climate consequences of developing countries reaching a specific per-capita GDP level before reducing carbon emissions. The research suggests that delaying decarbonization in these countries would result in less than 0.3°C of additional warming and only a 6% increase in total cumulative CO2 emissions by 2100.
A team of researchers used a novel approach to study the human gene responsible for Meier-Gorlin syndrome, a rare genetic disorder causing dwarfism and skeletal abnormalities. They discovered that a mutation in this gene affects its ability to bind to DNA, leading to defective cell division and growth.
A recent study used real British Railway data and an artificial intelligence model to improve the ability to predict delays in railway networks. The Spatial-Temporal Graph Convolutional Network model outperformed other statistical models for forecasting delays up to 60 minutes in the future.
A Rutgers study found antipsychotic prescribing in young children is declining, but doctors continue to prescribe for conditions lacking FDA approval and without recommended psychiatric consultations. The study highlights the need for safer first-line psychosocial treatments to minimize risks associated with antipsychotic treatment.
Researchers identified 28 new genes associated with developmental disorders, including 500 families, using the largest genetic resource available. The study estimates that another 1,000 genes linked to these conditions remain undiscovered.
Chinese researchers discovered a link between liquid-liquid phase separation and human developmental disorders like Noonan syndrome. Gain-of-function mutations in the SHP2 protein lead to hyperactivation of downstream signaling pathways, providing a therapeutic strategy for targeting SHP2-associated disorders.
A NIH-funded study identified neuronal abnormalities in cortical cells from individuals with 22q11.2 deletion syndrome, a genetic disorder associated with mental illnesses and developmental delays. The study suggests that overexpression of the DGCR8 gene and exposure to certain antipsychotic drugs can restore normal cellular functioning.
Research using a mouse model of DiGeorge syndrome found misfiring motor neurons responsible for tongue movement, leading to swallowing difficulties. The study aims to improve function in young children with difficulty eating or making sounds.
AUC Riverside researchers find ephrin-B1 regulates E/I balance in hippocampus, leading to seizures and social abnormalities. The study provides new insights into mechanisms behind neurodevelopmental disorders.
Researchers found a cumulative incidence of 3.1% of autism spectrum disorders among children screened at 18 months, with impaired motor skills and social communication skills as predictive factors. Early detection through health checkups can lead to better prognosis for children with ASD.
Researchers will generate a novel mouse model of TSC, characterize molecular pathways, and test two potential drug therapies to treat SEGAs. Early intervention improves prognosis for children with TSC.
A new neurodegenerative disorder has been discovered in children, characterized by developmental regression and severe epilepsy. The disorder is caused by a variation in the NRROS gene and appears to require two copies of the defective gene.
Research finds poor connectivity between brain hubs rather than specific regions causes learning difficulties. Children with well-connected hubs have either specific cognitive difficulties or none at all, while poorly connected hubs lead to widespread and severe problems.
Researchers describe five new cases of KAT6A syndrome, a rare genetic disorder characterized by intellectual disability, language impairment, and cardiovascular malformations. The study reveals novel symptoms such as cryptorchidism, syndactyly, and trigonocephaly, expanding the clinical phenotype of patients.
Researchers found that cells from children with NGLY1 deficiency lack sufficient water channel proteins called aquaporins, leading to inability to produce tears and other wide-ranging symptoms. The discovery opens new avenues for finding therapies to treat the disorder.
A new live-imaging technique reveals the key role of Hes7 in regulating the segmentation clock, a process that governs vertebrae formation. The study also highlights the importance of timing in intercellular communication for normal development.
Researchers at the University of Missouri conducted a longitudinal study on catatonia in Down syndrome, identifying Lorazepam and electroconvulsive therapy as effective treatments. The study highlights the need for sustained treatment to maintain recovery long-term.
The Institute for Basic Research in Developmental Disabilities has received a $1.95 million grant from the National Institutes of Health to support Dr. Gholson Lyon's research on rare human diseases. Dr. Lyon plans to expand his studies on Ogden syndrome and other diseases related to N-terminal acetylation, aiming to better understand ...
A study of nearly 1,000 mother-child pairs found an association between fetal exposure to acetaminophen and increased risk of childhood attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). The research used umbilical cord blood samples to investigate potential developmental effects.
Researchers discovered that jumping genes cause genetic changes in some patients with undiagnosed neurodevelopmental diseases. Diagnoses were achieved for three previously undiagnosed children, helping their families access support and understand disease risks.
Research from the University of Colorado Boulder found autism rates increasing by double digits among racial minorities, with black rates exceeding those of whites in most states. Hispanic rates grew faster than any other group, while prevalence among white youth is ticking up again after a plateau in the mid-2000s.
Researchers identified the molecular mechanism linking a protein mutation with abnormal nervous system development in neurodevelopmental disorders. A complex of proteins called the SWI/SNF complex was found to be affected, leading to changes in gene expression and brain development.
The PREGCARE study provides personalized pre-conception risk evaluation for healthy couples with a child affected by a developmental disorder. The researchers aim to identify families at high risk of recurrence and provide accurate assessment of their chances of having an unaffected child.
Researchers analyzed genomic data from over 31,000 parent-child trios and identified 307 significantly enriched genes, 49 of which are novel. The study explains about 51% of the DNM burden in their dataset, leaving half unexplained, providing clues for future discovery.
A new study found that people with autistic traits show less empathy and reduced understanding of others' feelings. However, the researchers suggest that this lower empathy may have unforeseen benefits, such as selective empathy, which can lead to positive outcomes.
Researchers at Rensselaer Polytechnic Institute developed a classification system for autism spectrum disorder (ASD) based on co-occurring conditions, revealing three subgroups within the cohort. The study found that certain conditions like gastrointestinal and immune disorders often co-occurred in children with autism.
A study published in JAMA Pediatrics found that autism diagnoses become stable starting at 14 months, with a mean age of diagnosis being significantly lower than previously reported. This suggests that accurate screening and earlier treatment can result in improved therapeutic benefits for children with ASD.
Salil Lachke's research aims to understand the developmental disorders that cause anophthalmia and microphthalmia, rare eye defects occurring in 1 in every 5,300 babies born in the US. The NIH grant will support his investigation of Rbm24, a gene implicated in eye development and potentially other diseases.
A new collaboration will create a centralized biobank of induced-pluripotent stem cells for Prader-Willi syndrome, enabling researchers to investigate the genetic basis of the disease and explore potential therapies. The biobank will provide high-quality cellular resources to accelerate research and development of new treatments.
A study of 2,400 Canadian children found that higher screen time at ages 2 and 3 was associated with poorer performance on developmental screening measures by age 5. The opposite association wasn't observed, suggesting potential drawbacks to excessive screen time in young children.
Researchers used a massive dataset of over 100,000 individuals to identify constrained regions of genes that may underlie developmental disorders. These 'constrained' regions are intolerant to DNA changes and may cause disease when mutated, according to the study published in Nature Genetics.
A recent study by the University of Helsinki found a connection between autism spectrum disorders and stem cell dysfunction. Gene mutations in certain genes were linked to abnormalities in neuronal network formation and function in individuals with autistic spectrum disorders.
A novel multisystem disorder has been identified due to bi-allelic variants in the CCDC47 gene, affecting individuals with symptoms such as woolly hair, liver dysfunction, and global developmental delay. The study demonstrates the importance of CCDC47 in normal development and highlights the need for further research into this condition.
A saliva-based RNA panel and algorithm can differentiate children with autism from non-autistic peers with 85% accuracy. This test could improve early diagnosis, enabling earlier intensive behavioral therapy to improve symptoms.
A study has discovered that only a small fraction of rare, undiagnosed developmental disorders in the British Isles are caused by recessive genes. The researchers found that five percent of patients had inherited disease-causing gene mutations from both parents, far fewer than previously thought.
A new study reveals that children with autism spectrum disorder (ASD) and developmental delays are up to 50% more likely to be overweight or obese compared to the general population. Children with severe ASD symptoms are at an even higher risk, being 1.7 times more likely to be classified as overweight or obese.
Researchers have identified 102 genes associated with autism spectrum disorder (ASD) through the largest genetic sequencing study to date. This study distinguishes between ASD and intellectual disability, providing valuable insights into the genetics of ASD.
A new study reveals that common genetic variants can affect the risk of rare developmental disorders, changing our understanding of their causes. The research found that these variants can contribute to a range of conditions, including autism and schizophrenia.
Researchers identified a rare genetic disorder in a human patient caused by mutations in the ornithine decarboxylase 1 (ODC1) gene. The disorder is characterized by large birth weight, hair loss, and developmental delays, and may be treatable with the FDA-approved drug DFMO.
A novel saliva-based panel is being developed to aid clinicians in the early diagnosis of autism spectrum disorder based on changes in oral microbial communities. The study found altered microbial gene expression patterns associated with energy processing and lysine degradation, indicating potential biomarkers for ASD.
A TGen-led study has identified a mutated gene, FBXO28, as the likely cause of a 3-year-old girl's severe neurological symptoms. The research found a frameshift mutation in the gene that led to a cascade of symptoms, including developmental delay and intellectual disability.
A recent study published in JAMA Ophthalmology found that children with developmental dyslexia are more prone to visual deficits than their typically developing peers. Visual function deficiencies were common among the children with dyslexia, suggesting a potential link between vision processing and reading difficulties.
According to a Dartmouth College study, airlines can avoid 60-80 percent of crew-related delays through sophisticated crew scheduling practices. This results in savings of up to $13 billion system-wide each year in terms of reduction in delay costs to airlines and consumers.
Researchers at Cold Spring Harbor Laboratory have discovered a genetic mutation associated with intellectual disability, developmental delays, autism spectrum disorder, and congenital cardiac anomalies. The mutation, in the NAA15 gene, is linked to Ogden syndrome, a more severe condition also caused by a mutation in the NAA10 gene.
Researchers found that genetic changes outside of genes, specifically regulatory elements, can cause rare developmental disorders. This discovery is a positive step towards providing an explanation for children with undiagnosed neurodevelopmental disorders, and could lead to diagnoses and treatment options for thousands of families.
A recent study has estimated the frequency of fetal alcohol spectrum disorders among first-graders in four US communities, finding rates as high as 50 per 1,000 children. The findings suggest a more accurate prevalence estimate than previous studies, but may not be generalizable to all communities.
Researchers identified unique epigenetic signatures for nine neurodevelopmental disorders, enabling better diagnosis with minimal clinical overlap. The signatures can be used to screen for multiple syndromes simultaneously and distinguish between similar cases.
A new study published in Child Development suggests that bilingualism may increase cognitive flexibility in kids with Autism Spectrum Disorders (ASD). Bilingual children with ASD outperformed their monolingual peers in shifting tasks, indicating a potential benefit of language exposure on executive functions.