Articles tagged with Developmental Disorders
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.
Researchers used magnetoencephalography to study brain processing in young children with autism and delayed language development. They found significant differences in magnetic mismatch fields, indicating altered recognition of change in emotional tones. This discovery may lead to earlier diagnosis and support for these children.
Research published in eNeuro reveals that fragile X syndrome affects the development of sound-processing neurons in the brainstem. The study found reduced cell sizes in mice with FXS, indicating a role for FMRP in auditory system development.
A study published in Autism Research found a correlation between shorter time intervals between pregnancies and increased risk of Autism Spectrum Disorder in second-born children. The researchers suggested that couples planning pregnancy should discuss their options with a trusted doctor or healthcare provider.
A new video game-based training program has shown significant improvements in balance and posture for children and youth with autism spectrum disorder. The six-week program, which rewards participants for holding 'ninja' poses, also improved in-game performance outside the gaming environment.
Researchers developed the Mentalized Affectivity Scale (MAS) to assess emotion regulation, breaking it into three elements: identifying, processing, and expressing. The study found that processing emotions was linked to personality and wellbeing, while identifying and expressing were not.
A new Harvard Medical School study suggests that brain regions key to facial recognition form only through experience and are absent in primates who don't encounter faces. This finding sheds light on neuro-developmental conditions such as autism and developmental prosopagnosia, where individuals struggle with recognizing familiar faces.
Researchers found that honeybees fed plant microRNA supplements developed more slowly and had smaller bodies than those not receiving the supplements. The study reveals a previously unknown function of plant microRNAs in fine-tuning larval development.
A recent study found improved survival rates among premature babies, with increased rates of survival without neuromotor and sensory disabilities at 2 years of age. However, a significant risk of developmental delay remains for children born between 24-34 weeks' gestation, with language development delays being the most common concern.
Children with autism spectrum disorder may benefit from assessments for developmental coordination disorder (DCD) due to overlapping symptoms and co-occurrence. The UTA study highlights the importance of evaluating individuals with autism thoroughly for DCD, which affects up to 7% of school-age children.
A new control mechanism for the Opitz syndrome gene has been discovered, revealing a previously unknown cell signaling pathway. This finding could lead to the development of new treatments targeting this pathway.
Researchers found that breathing low-oxygen air reversed brain damage caused by mitochondrial defects in mice. The study suggests that hypoxia therapy may be a potential treatment for mitochondrial diseases, including Leigh syndrome. Further research is needed to confirm these findings and develop a practical regimen.
A new study by the University of Sussex reveals that delaying marriage for young women in developing countries has significant positive effects on their children's wellbeing. The research found that children of women who get married later are more likely to complete vaccinations, have better grades, and be healthier.
A new study examines neonicotinoid pesticides' effect on wood frog development, finding slight delays that may not be detrimental. Additional studies are needed to investigate the indirect effects of these pesticides on amphibian populations.
Researchers at Osaka University create tri-color changing materials that exhibit efficient thermally activated delayed fluorescence and enable the production of high-performance OLEDs devices. The materials display a range of colors in response to temperature and pressure, showing promise for applications such as pressure- and temperat...
Researchers uncovered 91 genes linked to neurodevelopmental disorders, including 38 previously unknown risk factors. The study found overlap between conditions like autism and intellectual impairments, with some genes associated with both. Additional findings suggest less severe mutations may cause autism without intellectual disability.
A new study led by Duke Health has found that babies born at 23-24 weeks of pregnancy are showing small but measurable improvements in survival rates and neurodevelopment. The study analyzed the records of over 4,200 infants and found a larger percentage developing into toddlers without cognitive or motor delays.
Researchers identified key genes in copy number variants (CNVs) associated with neurodevelopmental disorders, including autism, schizophrenia, ADHD, and intellectual disability. These genes have a 'Goldilocks' effect, requiring precise duplication levels to function properly.
Researchers at TGen identified a novel mutation in brain protein CASK that causes physical abnormalities and developmental delays in children. The study found a nearly 40% diagnosis rate among 440 sequenced genomes, offering insights into rare medical disorders.
Research at Princeton University finds that premature babies don't use sensory-prediction brain process to shape their brains like full-term babies do. This lack of processing is linked to higher risks of developmental delays as they grow.
A recent genetic study discovered 14 new developmental disorders in children, providing diagnoses for over 1,000 individuals and their families. The study revealed that nearly 400,000 annual births worldwide are affected by rare developmental disorders caused by spontaneous mutations.
Babies with flat head syndrome are at heightened risk of motor, language, and cognitive delays. Early and prompt assessment and intervention are crucial to mitigate these delays.
An international team of scientists has identified variants of the EBF3 gene causing a developmental disorder with features in common with autism. The discovery opens the possibility of diagnosing other patients with similar clinical disorders, providing relief to their parents and improving genetic diagnosis.
Researchers found that providing GlcNAc supplement to Pngl-deficient flies prevents death, with nearly 70% surviving to adulthood. The study suggests a potential diet-based treatment for the rare disease NGLY1 deficiency.
Researchers have identified a new genetic syndrome tied to defects in protein transport, causing craniofacial abnormalities and developmental delays. The study found that mutations in the ARCN1 gene disrupt normal protein trafficking, leading to intellectual disability and bone development issues.
Research suggests that aerial pesticide spraying may increase the risk of autism spectrum disorder and developmental delays among children. Children living in areas where aerial pesticide spraying occurs are approximately 25% more likely to have an autism diagnosis or documented developmental delay.
SPARK aims to advance our understanding of autism's causes by collecting DNA from 50,000 individuals with autism and their families. Researchers will study genetic mechanisms and environmental factors to develop new supports and treatments.
The Canadian Medical Association Journal has updated its guideline, recommending against the use of screening tools to identify developmental delay in healthy young children with no apparent signs or parental concerns. Developmental surveillance is now advised instead, where clinicians regularly monitor a child's development and consid...
A new study by Cohen Children's Medical Center suggests that over a quarter million school-age children with autism spectrum disorder or other developmental disorders wander away from adult supervision annually. Public places are the most common location for wandering, which poses significant risks to safety and well-being.
Researchers at Cincinnati Children's Hospital Medical Center found a strong link between autism and maternal obesity-diabetes, with pregnant mothers 1.5 times more likely to have a child with ASD. The study used electronic medical records and analyzed birth data from over 35,000 mothers.
Researchers defined the makeup of synaptic clefts, the gaps between nerve cells, and found dynamic structures that can be altered by genetic mutations. The study sheds light on potential causes of autism and related disorders, including increased risk for drug addiction and impaired learning and memory.
A geneticist has used powerful internet and social media tools to find doctors and researchers worldwide to confirm a new X-linked intellectual disability syndrome in young boys. The syndrome is characterized by severe developmental delays, facial malformations, and generalized hypotonia, with 14 cases involving 11 unrelated families.
A recent study using zebrafish has uncovered new insights into the causes of congenital heart defects associated with Cornelia de Lange Syndrome. The research found that lowering levels of a specific cohesin protein in embryonic zebrafish produces similar types of heart defects as those found in people with CdLS.
A study found that nearly three quarters of doctors surveyed wouldn't refer children with multiple developmental delays to a genetics specialist. This may delay diagnosis and treatment of genetic disorders, which can be treated earlier.
A new study has identified four previously uncharacterized genetic disorders in children, using a computational approach to analyze DNA samples from over 4,000 families across the UK and Republic of Ireland. The researchers compared these samples with data from millions of people who have agreed to share their genetic information.
A study found that people with delayed orthostatic hypotension are at risk of progressing to a more serious condition, Parkinson's disease, or dementia. Over 10 years, 54% of participants with the delayed condition progressed to orthostatic hypotension and 31% developed a degenerative brain disease.
A new study at Georgia State University links delay of gratification in chimpanzees to white matter connectivity between the caudate and dorsal prefrontal cortex. The researchers found that higher connectivity was associated with better delay of gratification performance, a crucial ability for mental health.
A survey of nearly 7000 people found that 98% want to be informed if researchers stumble upon disease indicators in their genetic data. Genomic data has a perceived value, but clinically actionable data is the main interest. Healthcare professionals are concerned about sharing incidental findings and ancestry info.
A study found that children with autism spectrum disorder were more likely to experience gastrointestinal symptoms, such as constipation and diarrhea, and food allergies/intolerances than their typical development peers. Mothers of children with ASD also reported more persistent GI symptoms in the first three years of life.
A research collaboration found that induced or augmented labor does not increase the risk of children developing autism spectrum disorder. The study, which analyzed data from over 167,000 births, suggests that labor induction or augmentation is safe for mothers and babies.
Researchers mapped 184 genetic duplications to aid in the interpretation of copy number variations (CNVs) found in individuals referred for genetic testing. The study found that most CNVs were inherited from a parent and often disrupted nearby genes, making it difficult to pinpoint particular genes responsible for medical conditions.
A nationwide project has revealed 12 new genetic causes of developmental disorders, including intellectual disabilities and congenital heart defects. The Deciphering Developmental Disorders (DDD) project sequenced DNA from over 1,000 children to identify the genes responsible for their conditions.
A nationwide project is diagnosing rare diseases in children, finding a cause for nearly a third of first 1,000 families. Genome-wide sequencing and database comparison help identify genetic keys to disorders.