Articles tagged with Developmental Disabilities
A new study reveals that autistic college students face dramatically higher rates of anxiety and depression compared to their non-autistic peers. The research highlights the need for more mental health support for this underrepresented population.
A new study found a link between parents' workplace chemical exposure and their child's autism severity, with certain chemicals associated with cognitive deficits and developmental delays. The research emphasizes the need for workplace safety measures to protect not only workers but also their future children.
Researchers at UC Davis Health developed a promising gene therapy that could treat Rett syndrome by reactivating healthy but silent genes responsible for this rare disorder. The therapy showed impressive results in female mouse models of Rett syndrome, with treated mice living longer and showing better movement and cognition.
Researchers discovered a two-step mechanism where inhibitory neurons release nitric oxide to rapidly dilate blood vessels, followed by slower, localized vasodilation via astrocyte activation. This breakthrough sheds light on how neural signals are translated into blood volume changes in brain imaging.
A study by autistic researchers reveals the challenges of navigating nonverbal cues, including body language, facial expressions, and tone of voice. Autistic adults often struggle to process these signals in real-time, leading to misunderstandings and social anxiety.
Researchers found that inhibitory neurons born later in brain development mature faster than those produced earlier, ensuring a balanced neural network. This regulation is controlled by genetic mechanisms and may contribute to developmental disorders.
Biomolecular condensates play a critical role in organizing and regulating proteins within the postsynaptic density of neurons. Prof. Strømgaard's research aims to develop condensate-modifying compounds that restore normal function in SYNGAP1-related disorders, offering new avenues for therapeutic interventions.
A new nutritional epigenetics study protocol aims to reduce lead and mercury exposures in pregnant women to prevent childhood autism and ADHD. The protocol provides a valid method for measuring changes in ultra-processed food intake and diet, which may impact child neurodevelopment.
Mark Ramos developed software to help therapists measure children's skill development in autism therapy, providing a more accurate estimate of mastery. The tool, called MIEBL, employs Bayesian estimates to set performance criteria based on predicted success and observed data.
The Autism Inpatient Collection (AIC) has released a comprehensive dataset of over 1,500 children with autism, ages 4-20, providing valuable insights into their phenotypic and genetic profiles. The data includes measures of behavior, communication, emotion regulation, and more.
The National Urea Cycle Disorders Foundation is establishing a multistakeholder Partner Network to guide health care decisions and build a sustainable infrastructure for UCD research. The project aims to empower the broad UCD community to work together effectively, identify research needs, and create a roadmap for future studies.
Researchers discovered dynamic cells coordinate movements to sculpt living tissue in developing fruit flies, highlighting a powerful role of migrating cells in organ formation. This finding suggests similar systems may shape different organs, including the brain and testis.
A study by University of Rochester Medical Center researchers reveals that caregivers of medically complex children (CMC) can build resilience by practicing self-care and building support networks. The study identifies three critical strategies for successful adaptation, including developing a support community and engaging in coping s...
Researchers found that playing Dixit helped evoke emotions in autistic participants, covering three main themes: anxiety, social relationships, and sensory experiences. The study suggests the game could be an effective tool for bridging gaps between autistic and neurotypical people.
Researchers from Japan conducted a cross-cultural analysis to compare mentalizing difficulties in British and Japanese autistic and non-autistic adults. They found that Japanese autistic participants outperformed both groups of British participants, suggesting cultural differences in interpreting social cues.
A recent epigenetic study identified RABGGTB as a promising biomarker for autism spectrum disorder, revealing extensive DNA methylation abnormalities in key brain regions. The findings suggest that studying this gene could unlock new doors to understanding ASD and lead to future diagnostic breakthroughs.
Children with autism who engage in whole-body movement show improved executive functioning and cognitive performance compared to those who participate in sedentary play. The study, led by University of Delaware professor Anjana Bhat, found that exercise increases blood supply to the prefrontal cortex and enhances attention span and lea...
The PEERS for Preschoolers program is an evidence-based solution designed to help young children on the autism spectrum learn fundamental social skills needed to form lasting friendships. The program focuses on key areas such as turn-taking, sharing, cooperative play, and good sportsmanship.
A new study reports a substantial increase in mental health and neurodevelopmental disorder diagnoses among publicly insured children between 2010-19. The percentage of diagnoses rose from 10.7% to 16.5%, with a significant increase observed even before the COVID-19 pandemic began.
A new study published by Kennedy Krieger Institute found that targeted coaching for caregivers of infants as young as 8 months significantly enhances babies' communication and cognitive development. This early intervention model empowers families to learn strategies to increase their infant's engagement and communication.
Researchers at UCLA Health are launching a clinical trial to test whether wearable nerve stimulation can ease ADHD symptoms in children with prenatal alcohol exposure. The study aims to improve focus and behavior by gently stimulating the trigeminal nerve, which is linked to attention and executive function.
Researchers at UT Arlington's CIHI are developing innovative solutions to address complex health needs in children with disabilities, behavioral health issues, and medical conditions. The projects aim to improve healthcare services, enhance quality of life, and promote healthier aging through cutting-edge research and model organisms.
Researchers have identified a molecular pathway that disrupts brain development in children with myotonic dystrophy, leading to symptoms of autism. The study reveals how genetic mutations affect the splicing process, resulting in characteristic features of autism.
The SynGAP Research Fund has announced the appointment of four new members to its Board of Trustees, bringing diverse expertise to the organization's mission. Jaime Aranda, Steve Gore, Heather Mestemaker, and Brian Smith will succeed outgoing Trustees, driving the development of therapies and enhancing SYNGAP1 quality of life.
Researchers studied active and passive touch tasks using virtual reality and EEG to better understand how people with autism process touch. The study found that individuals with autism showed little variation in brain response to active and passive touch, suggesting difficulty predicting consequences of actions.
Researchers have initiated a clinical trial using an investigational medicine to lower amyloid precursor protein, targeting Alzheimer's disease in adults with Down syndrome. The study aims to prevent the development of Alzheimer's disease by addressing its underlying genetic cause.
The International Society for Autism Research (INSAR) will hold its 24th Annual Meeting in Seattle, featuring 1600 posters, 28 oral sessions, and keynotes on topics such as daily challenges faced by the autism community and implementation science aimed at enhancing systems of care.
Neuro-immunologist Stephen Hauser has won the 2025 Breakthrough Prize in Life Sciences for his role in identifying the immune system's primary driver of damage to nerve cells in multiple sclerosis. His B-cell theory has led to the development of therapies that have transformed treatment, reducing relapses and improving prognosis.
Dr. Vikaas Sohal's research focuses on cognitive flexibility and prefrontal gamma oscillations to improve cognitive function in individuals with SYNGAP1-related disorders. The grant aims to confirm findings in Syngap1 mutant mice and explore new therapeutic strategies.
Dr. Julia Dallman has been awarded a $65,000 grant by the SynGAP Research Fund to screen pro-GI motility compounds for reducing gut transit time in her zebrafish SYNGAP1 model. The project aims to identify therapeutic options that can alleviate severe GI symptoms and improve quality of life for individuals with SYNGAP1-related disorders.
A new study published in Child Maltreatment found that adults who experienced childhood physical and sexual abuse had double the odds of developing health and mental health conditions. The presence of a protective adult in the home was associated with better long-term health outcomes among children who experienced abuse.
A new Clinical Research Center of Excellence will improve care for individuals with SYNGAP1-related disorders and expand the Natural History Study to include Prospective Multidisciplinary Multisite Study. The center, established at Children's Hospital Colorado, aims to accelerate research and provide specialized care.
The Whole Health Consortium at Virginia Tech has funded several research projects, including one that uses geospatial analysis to improve healthcare access for veterans. Another project aims to develop a 'just-in-time' intervention for chronic pain and opioid use disorder in Appalachia.
A new gene therapy has shown promise in treating a rare form of epilepsy, specifically Dravet syndrome, by replacing the SCN1B gene variant. The therapy increased survival rates, reduced seizure severity, and restored brain neuron excitability in mice with the condition.
The Syngap Research Fund's 2024 Impact Report showcases the organization's progress in accelerating SYNGAP1 research, collaborating with academia and industry, and advocating for patients' rights. The report highlights seven core scientific programs and over $6M in funding for SYNGAP1-related disorders science.
Researchers at Texas A&M University have developed a low-cost technology using curcumin to curb bacterial resistance. The study shows that photodynamic inactivation can trigger deleterious reactions within bacteria, killing them and reducing the number of antibiotic-resistant strains.
Researchers from Japan found that organizational strategies, third-wave techniques, and problem-solving techniques are the most effective components of cognitive–behavioral therapy in treating ADHD. These approaches can help improve planning, prioritization, organization, emotional regulation, and stress management.
A preliminary study presents a link between stroke and mental health challenges in children, highlighting the need for early intervention and screening. The analysis found that kids who have a stroke are at higher risk of developing anxiety, depression, and related physical symptoms.
Researchers at Waseda University found that somatosensory electrical stimulation on the wrist can bias subsequent motor decisions, increasing the likelihood of using the stimulated hand. This phenomenon highlights a connection between sensory input and motor choices, with potential implications for individuals with motor impairments.
Dr. Michael Courtney's team will use advanced phenotyping techniques to assess how SYNGAP1 missense variants impact protein function, focusing on pathogenic or uncertain variants. The project aims to inform therapeutic strategies for patients with SYNGAP1-related disorders through drug repurposing and functional assays.
A phase 1/2 clinical trial has demonstrated the safety and effectiveness of the AEF0217 molecule in improving cognitive function in people with Down syndrome. Measured outcomes showed significant improvements in behavioral skills, social interactions, and cognitive flexibility.
Researchers identified the critical role of TIMM50 protein in mitochondrial energy production and its link to a severe and rare neurological disease. The study's findings suggest potential targets for future drug treatments and advance research on protein import into mitochondria in brain cells.
Scientists at UCSF have developed engineered T cells that act as immune referees to soothe overreacting immune responses and mope up inflammatory molecules. These cells could improve treatment for organ transplants, type 1 diabetes and other autoimmune conditions by reducing the need for harsh immunosuppressant drugs.
The Jackson Laboratory (JAX) has been awarded a $230,000 grant from the SynGAP Research Fund to characterize a mouse model for SYNGAP1-Related Disorders. This work aims to test innovative tRNA suppressor therapies and generate patient-derived research models.
SynGAP Research Fund appoints Virginie McNamar as President and COO, bringing extensive Rare Disease advocacy experience. The organization aims to accelerate progress with robust organizational structure and strategic focus.
A new project at the University of Kansas aims to examine medical ableism and its effects on health outcomes among people with disabilities. The study will gather information directly from individuals with disabilities through the National Survey on Health and Disability.
A $500K grant will support awareness and training for neurodivergent participation in the workplace, with a focus on building inclusive models. The goal is to strengthen employment prospects for those with neurological differences, who face difficulty finding or keeping jobs.
Researchers are using historical, qualitative, and statistical methods to investigate the needs of over 70 million people in the US who self-identify as having a disability. The study aims to measure specific dimensions of structural ableism and create ways to address its impact on healthcare disparities.
A team of researchers has identified a genetic link between rare brain malformations and protein folding defects in children. The study found that specific genetic changes can affect the function of proteins within cells, leading to abnormal cell behavior.
Researchers found that polypharmacy in older adults with Alzheimer's disease exacerbates symptoms, functional decline, and health outcomes. The study highlights the need for medication optimization strategies to improve quality of life among this vulnerable population.
The SynGAP Research Fund has awarded grants to Dr. Clement Chow to advance therapeutic development for SYNGAP1-Related Disorders. His research uses drug repurposing to identify compounds like N-acetyl-L-leucine as potential treatments.
A new study in mice shows a unique mRNA delivery method can successfully edit faulty genes in fetal brain cells. The technology has the potential to stop progression of genetic-based neurodevelopmental conditions like Angelman syndrome and Rett syndrome before birth.
Researchers found that female mouse models of Rett syndrome have a mosaic-like distribution of cells expressing wild-type and mutant MeCP2 protein, leading to dysregulated genes. The study also discovered an unusual disease progression, with females having more dysregulated genes at the pre-symptomatic stage than later on.
A study by Johns Hopkins Medicine found distinct immune 'signatures' in patients who developed adverse events while taking immunotherapy. These signatures, including increases in white blood cells known as Th2 and Th17, predict the development of immune-related adverse events and may be targeted for treatment.
Researchers found that two human-specific genes, SRGAP2B and SRGAP2C, regulate the SYNGAP1 gene involved in autism spectrum disorder. The study provides a direct link between human brain evolution and neurodevelopmental disorders.
Researchers found lower neuron density in regions of the cerebral cortex responsible for tasks like memory, learning, and problem-solving in children with autism. In contrast, other brain regions like the amygdala showed increased neuron density, suggesting unique promise in characterizing individuals with autism.
Research has shown that people with hip osteoarthritis are unable to activate their muscles as efficiently due to the brain's inhibitory response. Dr. Myles Murphy and his team investigated muscle function in patients with hip osteoarthritis, finding a strong correlation between muscle activation and joint degeneration.
Research on children in foster care with disabilities found that they are less likely to achieve a positive outcome like adoption or guardianship, and have a higher risk of mortality. Children with specific disabilities, such as intellectual disability, physical disability, and emotional disturbance, were particularly vulnerable.
Researchers will classify autism types, identify responsible genes, and develop precision therapy for autistic patients. The team will employ neural organoids derived from diverse brain samples to accelerate autism research.
The study examines breast cancer incidence, mortality, and disease burden in China to inform urgent prevention and treatment strategies. The Age-Standardized Incidence Rate is relatively low compared to other countries, but the sheer number of cases and DALYs highlights a significant public health challenge.