Articles tagged with Developmental Disorders
Researchers found that the amyloid precursor protein (APP) regulates human neurogenesis, which could be linked to Alzheimer's disease. APP promotes a balance between stem cell proliferation and differentiation, suggesting its disruption may cause premature neurogenesis and cellular stress.
The study reveals that spontaneous waves of neurotransmitter glutamate facilitate dendrite pruning, while a unique protection/punishment machinery strengthens certain connections and eliminates others. Proper pruning is critical for neural development, with insufficient or excessive connections linked to neurophysiological disorders.
Researchers have developed a simple blood test that can diagnose De Vivo disease, a rare and disabling neurological disorder. The test, called METAglut1, has a high sensitivity and specificity, allowing for accurate diagnosis in a short amount of time.
A team of researchers from UNIGE and Beihang University has identified the FOXI3 gene as responsible for one form of Goldenhar syndrome, a rare congenital disorder. Pathogenic variants in both copies of the FOXI3 gene are necessary for the disease to develop, following an autosomal recessive inheritance pattern.
A UToledo-led study found early exposure to pyrethroids may increase the risk of autism and developmental disorders in mice. The researchers discovered behavioral changes, including hyperactivity and repetitive behaviors, which are similar to symptoms seen in human patients with neurodevelopmental disorders.
A new study from the University of East Anglia found that children with larger vocabularies look quickly towards objects when learning new words, while those with smaller vocabularies take more time and look back and forth. The research team hopes to identify children at risk for language delay earlier and provide targeted support.
A nationwide UK research study has diagnosed around 5,500 children with severe developmental disorders, identifying the genetic cause of their condition. The Deciphering Developmental Disorders study used genomic sequencing technology to provide diagnoses for families from across the UK and Ireland.
Researchers have linked higher lithium levels in drinking water to a moderately higher risk of autism spectrum disorder in offspring. The study found that mothers living in urban areas had a slightly stronger association between lithium exposure and autism risk.
Researchers at Texas A&M University have developed the first molecular therapeutic for Angelman syndrome, a devastating neurogenetic disorder. The therapy targets an evolutionarily conserved region in the UBE3A-AS transcript and has shown promising results in clinical trials.
Researchers say parents' well-intentioned efforts to protect children from harm have inadvertently deprived them of independence and opportunities for self-directed play. This decline in 'child's play' is linked to rising anxiety, depression, and suicide rates among school-aged children.
A Keck School of Medicine study found exposure to PFAS, known as 'forever chemicals,' disrupts key biological processes in children and young adults, increasing risk of diseases such as developmental disorders, cardiovascular disease, and cancer. The study highlights the importance of regulating PFAS as a class of chemicals.
Researchers developed a new imaging technique revealing abnormal circulation patterns of brain fluid in developing brains. Disruptions to cerebrospinal fluid flow may underlie cognitive deficits and developmental delays in conditions like hydrocephalus.
A germline mutation of topoisomerase II B affects the movement of proteins in the nuclei of cells with this mutation. The study reveals that the mutation impacts nuclear dynamics and provides a platform to understand the biological relevance of such mutations.
Internet-delivered parent-child interaction therapy shows promise in expanding care for underserved children with developmental delay. The study found significant improvements in child behavior that were maintained across follow-up visits.
Researchers identified the molecular mechanism underlying Weiss-Kruszka syndrome, a rare neurodevelopmental disorder characterized by craniofacial anomalies and autistic features. The study reveals that the ZFP462 gene mutation leads to a failure to safeguard neural lineage specification during early embryonic development.
Research published in Developmental Medicine & Child Neurology reveals a link between maternal diabetes and neurodevelopmental disorders such as autism, ADHD, and intellectual disability in children. Type 1 and type 2 diabetes were associated with increased risks of these conditions, while gestational diabetes was linked to autism spec...
Researchers have discovered physical forces and hydrodynamic flows that ensure proper functioning of life's blueprint. The study provides insights into the genome's organization and function, shedding light on its biophysical origins. This knowledge is crucial for understanding genetic disorders and human diseases.
Researchers use novel interferometric technique to measure time delay between H2 and D2 isotopes, finding phase shift of nearly 3 attoseconds caused by nuclear motion. The study uses high harmonic generation and advanced theoretical modeling to validate the method.
A study of 2 million births found maternal unintentional injury during pregnancy increases risk of cerebral palsy. Children exposed to maternal injuries that resulted in hospitalization or preterm delivery are at higher risk.
A Rutgers-led study found that a gene mutation associated with autism causes an overstimulation of brain cells, disrupting the normal information flow. The researchers used human stem cells and transplanting them into mouse brains to understand how the mutation affects brain development.
A new study by University of Wisconsin-Madison professor Andre Sousa investigates the differences and similarities of cells in the prefrontal cortex between humans and non-human primates. The researchers found five cell types unique to humans and differences in cell abundance across species.
A study published in JAMA Pediatrics found that developmental-behavioral pediatricians can diagnose most autism cases in young children without ADOS testing. In 90% of cases, the ADOS results did not change the original clinical diagnosis, suggesting that DBPs can accurately assess ASD symptoms.
A recent study at the Max Planck Institute for Human Cognitive and Brain Sciences found that mothers' postnatal depressive moods can impact their babies' ability to distinguish speech sounds. Mothers in a negative mood tend to use less infant-directed speech, leading to delayed language development in infants.
Researchers analyzed data from 145,000 pregnancies and found that antidepressant exposure was not associated with autism spectrum disorder or other neurodevelopmental disorders. The study suggests that antidepressant use during pregnancy may not increase the risk of these conditions in children.
A study by Brigham Young University found that parent-led interventions significantly improve social and communication skills in children with autism spectrum disorder. The meta-analysis of over 50 studies included 2,895 child participants who received about 90 minutes of intervention training each week.
A study found that genetic testing before pregnancy can detect the risk of severe developmental disorders in 44% of cases if parents are related. However, non-hereditary mutations play a larger role in children of non-consanguineous couples, and many genes remain undetected.
Researchers identified a molecule produced by astrocytes that interferes with normal neuron development in Rett, fragile X and Down syndromes. Blocking this molecule reduces disease signs in mice brains, suggesting potential therapeutics to treat these disorders.
A new study of over 150,000 participants has identified more than 70 genes strongly associated with autism and over 250 with strong links to the condition. The analysis provides insights into the molecular roots of brain development and neurodiversity.
Children with complex congenital heart defects are 5 times more likely to receive an anxiety diagnosis, highlighting the need for mental health assessment and treatment. For adults, 50% experience mood or anxiety disorders, underscoring the importance of integrated mental health care in CHD specialty teams.
A new genetic disease has been identified that causes abnormal brain development in children, resulting in severe learning difficulties. Researchers have discovered the underlying cause of the condition by analyzing changes in a protein coding gene called GRIA1, which helps move electrical signals around the brain.
A survey study examined sociodemographic factors influencing the association between neurodevelopmental disorders and bullying. The study found that certain factors, such as socioeconomic status and parental education, may modify this association.
Researchers have developed a new tool to visualize leukocytes in the brain vasculature during in vivo two-photon laser scanning microscopy. The tool uses a fluorescent antibody targeting CD45, a ubiquitously expressed protein on white blood cells, allowing for tracking of circulating leukocytes over time and space.
A new study from Keck Medicine of USC found that cochlear implants improve deaf children's cognitive, adaptive behavior, language, and auditory skills, regardless of developmental impairments. The study suggests that deaf children with learning delays should receive cochlear implants to reach their full potential.
A proof-of-concept study suggests that postnatal gene therapy may prevent or reverse deleterious effects of Pitt-Hopkins syndrome, a rare genetic disorder. The treatment restored normal activity of the deficient gene, preventing anxiety-like behavior and memory problems in an animal model.
A study found a connection between learning and memory deficits in children with Joubert Syndrome and defects in the hippocampus. The researchers used animal models to create a genetic mutation that mimicked the human disease, revealing key findings about the role of primary cilia in brain development.
A study led by Kobe University researchers found that idiopathic autism is caused by epigenetic abnormalities in hematopoietic cells, leading to immune dysregulation and brain-gut axis disorders. The study used BTBR mice as a model and identified histone deacetylase HDAC1 as a common mechanism underlying these pathologies.
Researchers have discovered 15 genomic loci that either accelerate or decelerate brain aging, offering potential new drug targets to combat Alzheimer's disease and other degenerative brain disorders. The study, led by USC researchers, found overlap with genes involved in depression, schizophrenia, and cognitive functioning.
H. Alex Choi receives NIH grant to develop protein biomarkers for delayed cerebral ischemia, a complication after subarachnoid hemorrhage that affects approximately 50,000 Americans annually. The goal is to predict which patients will worsen and identify biological processes causing worsening patients.
A recent study found that approximately 1 in 3 heart attack survivors experience significant mental decline in the days and months following their heart attack. Cognitive deficits can impact quality of life and treatment adherence, emphasizing the need for cardiologists to monitor patients regularly.
The collaboration aims to prepare professionals to support school-aged students with autism spectrum disorder and related disabilities. Full scholarships will be awarded to 24 graduate students starting in Fall 2022.
A new study found that siblings of children with disabilities score higher in self-reported cognitive empathy than typically developing peers. This may be due to the specific 'advantage' of cognitive empathy in understanding and supporting their sibling relationship.
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.
A study published in Human Reproduction found that smoking by mothers during the periconceptional period is associated with delayed embryonic development, smaller foetuses at the 20-week ultrasound scan, and lower birth weights. The delay in embryonic development was found to have a greater impact in the second trimester of pregnancy.
Researchers found that blocking an overactive signaling pathway during the first five weeks of life prevents autism symptoms from developing in mice. The study suggests that targeting this critical period could lead to a potential cure for autism.
Researchers found high levels of per- and polyfluorinated alkyl substances (PFAS) in anti-fogging sprays and cloths sold on Amazon. The products contained fluorotelomer alcohols and fluorotelomer ethoxylates, which are associated with impaired immune function, cancer, and other health disorders. The study highlights the need for more r...
Research by University of Texas Health Science Center at San Antonio scientists found that mice missing one copy of the Tbx1 gene exhibit slower cognitive processing. The gene's deletion led to diminished myelin insulation around nerves, impacting signal conduction between brain regions.
Researchers found that a genetic mutation associated with severe congenital epilepsy also leads to neural degeneration, inflammation and behavioral symptoms in mice. The study suggests the mutation as a potential target for treatment.
Researchers from UNIGE found that a single missing genetic switch can lead to clubfoot and other malformations by disrupting cellular activation. The study highlights the crucial role of genetic switches in developmental disorders, suggesting that flaws in these mechanisms may be responsible for numerous malformations.
Children with congenital zika syndrome exhibit different neurological development profiles, with varying abilities to respond to stimuli. Larger head circumference is associated with higher cognitive and motor scores, according to the study published in PLOS ONE.
A new study by researchers at Mount Sinai found that a specific gene, HHIP, helps regulate the development of the coronal suture, a fibrous joint that connects the front and middle bone plates. The study showed that embryos with a missing HHIP gene had misshapen skulls and fewer mesenchymal cells separating the bones.
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.
Children with autism benefit from group-based weight management and family-centered nutrition education, which improves eating habits and exercise motivation. The program's success rate is higher among families who complete the entire program, indicating its potential as an adjunct or alternative to traditional interventions.
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 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.
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.
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.