Articles tagged with Developmental Disabilities
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.
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.
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.
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 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.
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.
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.
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.
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.
Non-Communicable Diseases (NCDs) are a major global health issue, characterized by their chronic nature and long-term impact on quality of life. In China, understanding the extent and distribution of NCDs is essential for developing effective public health strategies.
A new study from the University of Kansas reveals that individuals with pre-existing disabilities are more than twice as likely to develop long COVID. The research found that chronic illnesses and mental illness/psychiatric disabilities were the most common types of disabilities among those experiencing long COVID.
New research finds that Dungeons & Dragons provides a friendly environment for autistic adults to engage in social interactions, build confidence, and feel included. The study shows that playing the game allows participants to relax without pressure and take on new personas outside of the game.
A new study published in the Stroke journal found that people with brain aneurysms are at higher risk of developing mental health conditions, including anxiety. The study, which analyzed data from over 85,000 people, found that younger adults were particularly vulnerable to this increased risk.
A scoping review from the University of Gothenburg found that music-based movement therapy, known as the Ronnie Gardiner Method, can improve rehabilitation outcomes in individuals with brain disorders. The method has been shown to be challenging, motivating, and enjoyable for participants, leading to improved recovery and quality of life.
A study published in Neuron reveals that neurons are wired to connect seemingly unrelated concepts, enhancing the brain's ability to predict what we see based on past experiences. Visual experience influences the organisation of feedback projections, which store information about the world.
A new poll finds that over 30% of people in their 50s and early 60s provide care to at least one person with a health issue or disability, while 1 in 10 juggle taking care of three or more people. The majority of caregivers are caring for someone with a physical disability or mobility problem, followed by memory or thinking issues.
A new study from Michigan Medicine suggests that inhibiting the SWI/SNF epigenetic complex can therapeutically target oncogenic transcription factors. The research, led by Arul Chinnaiyan, builds on previous work to find genetic vulnerabilities in transcription factor-driven cancers.
A new global definition of sarcopenia is proposed, aiming to unify research and clinical practice. The definition may help identify low muscle mass or strength in older people, increasing the risk of poor outcomes such as fragility and disability.
Research on mouse models reveals that CBD and metformin can alleviate repetitive behaviour, impaired speech, and learning impairments associated with these genetic conditions. The study also explores the potential for broader use of these treatments in autism spectrum disorder-related conditions.
A new study by Johns Hopkins School of Nursing found that WIC staff need additional accommodations to provide inclusive care for parents with intellectual and developmental disabilities. The research highlights the importance of accessible teaching materials and respectful communication to improve access and quality of services for the...
Scientists discover that multiciliated cells use cell division to control hair-like projections called cilia. This adaptation breaks the cancer-preventing rule of making only four centrioles per cell, producing hundreds instead.
A new study reveals the challenges faced by autistic girls, women and gender diverse people in healthcare, education and society. Autistic young people express a pressing need for tailored support at school, better understanding of their experiences and strengths, and specialised mental health services.
A new study published in npj Mental Health Research reveals three distinct language comprehension mechanisms in autistic children, challenging the common linear trajectory of language development. The findings support the idea that intensive language therapy should start earlier and highlight the importance of improving language compre...
Children with developmental disabilities increased their moderate to vigorous physical activity by 17 minutes per day, while reducing sedentary time by nearly an hour per day through the 'Do As I Do' training intervention. The program also helped build responsibility, independence, and awareness of nonverbal cues.
Researchers discovered two novel GNE gene mutations that may cause a rare blood disorder called macrothrombocytopenia. The mutations affect the synthesis of sialic acid, critical for brain development and angiogenesis. Further studies are needed to understand the mechanism underlying this disorder and explore therapeutic interventions.
A large-scale animal study reveals that brain pH and lactate levels are a common feature across various neuropsychiatric conditions, including schizophrenia, bipolar disorder, autism, depression, epilepsy, and Alzheimer's disease. Changes in brain energy metabolism are linked to cognitive impairment, particularly working memory.
A new study published in Stroke found that exposure to artificial, bright outdoor nighttime light may increase the risk of cerebrovascular disease and stroke. The research, which analyzed data from over 28,000 adults living in China, suggests that higher levels of outdoor light pollution at night may be a risk factor for these conditions.
Researchers have identified a potential therapeutic target for Borjeson-Forssman-Lehman Syndrome, a neurodevelopmental disorder characterized by seizures and intellectual disability. The study found that PHF6 gene mutations impair Ephrin receptor regulation, leading to neural stem cell misregulation.
Researchers deciphered a novel process helping viruses choose to be nasty or friendly to their host bacteria. Phages use the bacterial immune system to make decisions, activating violent mode when necessary.
The Federation of European Neuroscience Societies is open to media registration for its 2024 event. Journalists can access the latest research discoveries in neuroscience fields such as dementia, addiction and depression.
A genome-wide meta-analysis study found that early vocabulary size is genetically linked to ADHD, literacy and cognitive abilities in children. The study used data from over 17,000 English-, Danish- or Dutch-speaking children and identified multiple genetic factors underlying vocabulary size in infancy and toddlerhood.