Articles tagged with Developmental Disorders
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.
A new study provides preliminary data for a human clinical trial of a treatment that targets the root cause of Alexander disease. The treatment has shown promising results in halting the progression of the disease and even reversing some symptoms in rat models, which better represent the human condition.
A new study documents that observable social-communication differences for infants with ASD unfold by 9 months, pointing to a critical window for targeted intervention. Infants with ASD exhibit significantly fewer social and early speech skills than their typically-developing peers at 9 months of age.
Researchers from NTU Singapore found significant increases in pollutant emissions at major international seaports during the COVID-19 pandemic. Emissions rose by over 100% in some ports, with container ships and dry bulk carriers experiencing the largest spikes.
A new study by Kennedy Krieger Institute found that children with autism spectrum disorder are twice as likely to report suicidal thoughts during routine medical screenings. The study highlights the importance of implementing suicide risk screenings for all children, especially those with neurodevelopmental disorders.
A Rutgers study found that up to 8% of children in certain New Jersey communities have autism spectrum disorder (ASD), significantly higher than the national average. The study also identified disparities in ASD identification, particularly among Hispanic children.
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.
Researchers found that somatostatin interneurons can cause seizures when they go haywire, disrupting the brain's balance. The study identified a rare epilepsy syndrome and developed mouse models to understand the neurological dysfunction, paving the way for new treatments.
A UC Davis MIND Institute study suggests telehealth evaluation can help families access care and diagnose autism earlier. The research found that telehealth approaches in the first year of life improved access to care for infants with elevated autism risk, reducing waitlists and parental stress.
A new study reveals that sensitive skin surfaces are overrepresented in the brain due to stronger connections between sensory neurons and brain stem neurons. This mechanism may explain why certain body parts, like hands and lips, are more sensitive than others.
Research published in Journal of Autism and Developmental Disorders found that autistic children with difficulties integrating narrative context with facial expressions, leading to inaccurate emotion recognition. This highlights the importance of contextual cues in social exchanges for effectively managing interactions.
Researchers have detected the earliest effects of Huntington's disease in the first two weeks of human embryonic development. The findings suggest that the disease process starts decades earlier than previously thought, and point to new approaches for finding treatments.
Researchers at UIC will evaluate the effectiveness of integrated behavioral health care coordination on mental health outcomes for teens with intellectual and developmental disabilities. The study aims to identify better care coordination models to reduce barriers to access to behavioral health care for this vulnerable population.
A new study from Anglia Ruskin University found that increasing space between letters can improve reading speed for both dyslexic and non-dyslexic children. Dyslexic children showed a 13% increase in reading speed, while non-dyslexic children saw a 5% improvement.
Researchers at Boston Medical Center have identified six stages of engagement in ADHD treatment, highlighting the importance of breaking down barriers for racial and ethnic minority families. The study provides a comprehensive framework that can help healthcare systems better match the needs of children with ADHD and their families.
The university will support research on normal and abnormal brain development, including rare diseases that cause intellectual disabilities. Researchers aim to improve care and treatment for children with IDDs.
Researchers at UCLA developed brain organoids that mimic human brain structure and function, allowing for the study of neurological disorders like Rett syndrome. The organoids showed organized waves of activity similar to those found in living brains and responded to treatment with an experimental drug.
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 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.
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.
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.