A study from Boston Children's Hospital found distinguishing EEG features in children with autism as early as age 2. Researchers used computer algorithms to analyze EEG data and identified 33 coherence factors that consistently distinguished children with autism from controls.
Researchers developed a new scoring system that identifies adolescents with the metabolic syndrome, increasing the chances of early intervention and preventive therapy. The system shows promise in diagnosing the condition in racial-ethnic groups, particularly male African Americans.
Researchers have found an imbalance between neuronal excitation and inhibition in individuals with Angelman syndrome, a neurodevelopmental disorder characterized by seizures, cognitive delay, and severe intellectual disability. This imbalance may underlie the high seizure activity observed in AS patients.
The Maryland Stem Cell Research Fund has awarded grants to 29 Johns Hopkins researchers working on stem cell metabolism, disease modeling, and therapy development. New therapies aim to replace damaged cells in patients with conditions like schizophrenia and Rett syndrome.
Research identifies CDKN1C gene mutation as cause of IMAGe syndrome, a rare developmental disorder affecting fetal growth and organ size. The study also reveals the gene's role in regulating cell growth and division, with implications for understanding tumour development.
Scientists have discovered that mice lacking Snf2l gene have larger brains, more cells and actively dividing brain stem cells, providing a new approach to stimulate brain regeneration and understand developmental disorders. The research may lead to potential treatments for conditions like autism and Rett syndrome.
Researchers identified C5ORF42 as the gene causing Joubert Syndrome in French Canadian families in the Lower St. Lawrence region of Quebec. The study, published in The American Journal of Human Genetics, provides a genetic basis for the syndrome and allows family members to assess their children's genetic risks with a simple DNA test.
A new study finds that chronic fatigue syndrome patients have decreased activation of the basal ganglia in response to reward, associated with increased fatigue levels. The findings shed light on the biology of this mysterious disease and may lead to better treatments.
People of African descent may be at risk for cardiovascular disease despite normal triglyceride levels, highlighting a paradox known as the TG paradox. Researchers call for further study and development of new screening guidelines to better identify metabolic syndrome in this population.
Dr. Harry Dietz has been recognized for his groundbreaking work on Marfan syndrome, an inherited connective tissue disorder that affects approximately 1 in 5,000 people worldwide. His research has identified the genetic cause of the disease and a potential treatment using an FDA-approved high blood pressure medication.
Researchers found that aggressive treatment for chronic DVT can restore blood flow and improve quality of life for those with post-thrombotic syndrome. Minimally invasive procedures like angioplasty, stenting, and thrombolytic therapy showed promising technical and clinical outcomes.
A bone marrow transplant has been shown to arrest severe symptoms of Rett syndrome, a devastating neurological disorder, by replacing faulty immune system cells. The procedure significantly extended the lifespan of Rett mouse models and improved their mobility, breathing, and overall health.
Researchers present new information on neural diseases and kidney stones using the fruit fly Drosophila melanogaster model. Studies reveal links between cellular changes and behaviors in flies with human counterparts such as ataxia-telangiectasia and Rett Syndrome.
A recent study published in The Endocrine Society's Journal of Clinical Endocrinology & Metabolism found that elderly people with the metabolic syndrome are at a higher risk of chronic kidney disease. Insulin resistance and high blood glucose levels were also linked to rapid decline in renal function.
Around 70% of young adults with Asperger Syndrome reported at least one episode of depression, while up to 50% experienced repeated episodes. One third of individuals also have ADHD, and characteristics between Asperger and schizophrenia share similarities in autistic traits and social cognitive ability
Researchers at Stanford University highlight potential treatments for cognitive dysfunction in Down syndrome, which shares similarities with Alzheimer's disease. The review focuses on insights from animal models and structural abnormalities in the DS brain.
Researchers have identified two new genes associated with Baraitser-Winter syndrome, a rare brain malformation characterized by droopy eyelids and intellectual disabilities. The study reveals the defects occur in actin genes critical for cell division and movement.
Scientists developed a novel biochemical assay and algorithm to detect fetal chromosomal abnormalities in maternal blood, achieving high accuracy and efficiency compared to existing methods. The new approach has the potential to reduce unnecessary invasive testing and improve screening for Down syndrome and Edwards syndrome.
A new study found people with Lynch syndrome have an increased risk of developing several types of cancer, including bowel, uterus, ovarian, kidney, stomach, and bladder cancers. The study also revealed a moderately increased risk of breast and pancreatic cancer in those with the condition.
A prospective study links Lynch syndrome with significantly increased risks of breast and pancreatic cancers, while relatives without genetic mutations have no increased risk. The study provides clearer estimates of cancer risks associated with Lynch syndrome and may inform screening and early detection strategies.
A study presented at the Society for Maternal-Fetal Medicine's annual meeting demonstrated that massively parallel sequencing of maternal plasma DNA can detect all three most prevalent fetal aneuploidies. The test showed 100% sensitivity and specificity for trisomy 21 (Down syndrome) and high accuracy for other autosomal aneuploidies.
A new DNA-based prenatal blood test can identify pregnancies with Down syndrome, Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). The test was found to be highly effective in detecting these conditions, with a detection rate of 100% for trisomy 18 and 91.7% for trisomy 13.
Researchers at OHSU have discovered a critical link between brain-derived neurotrophic factor (BDNF) and Rett syndrome, a neurological disorder affecting one in 10,000 baby girls. The study found that mutant neurons in the brainstem fail to produce BDNF, leading to breathing difficulties and other symptoms.
Scientists discovered a new link between mutations in an evolved gene module and syndromic autism, specifically Joubert syndrome. The study found that alterations in cellular primary cilia led to malformation or underdevelopment of the cerebellum and brainstem.
Researchers identified genetic mutations in OATP1B1 and OATP1B3 proteins as the underlying cause of Rotor syndrome, a condition characterized by conjugated bilirubin buildup. Complete deficiency of these proteins can cause hypersensitivity to certain drugs and interrupt conjugated bilirubin reuptake into the liver.
A team of researchers identified genetic mutations in OATP1B1 and OATP1B3 as the cause of Rotor syndrome, a rare genetic disorder characterized by jaundice. Complete deficiency of these proteins causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.
A new study published in The Lancet shows that memantine is ineffective for patients with Alzheimer's disease and Down syndrome aged 40 years and older. The drug was tested on 88 patients with or without dementia, but showed no significant improvement in cognition and function compared to a placebo group.
Researchers found that Crh and Oprm1 genes are implicated in anxiety and social behavior problems caused by excess MeCP2 protein in mice. Reducing levels of these genes alleviated symptoms, suggesting a potential treatment approach for patients with MeCP2 duplication syndrome.
William C. Mobley, chair of UC San Diego's Department of Neurosciences, received the International Sisley-Jérôme Lejeune Prize for his innovative research on treatments for neurological disabilities, including Down syndrome. The prize acknowledges his contributions to advancing care and management of intellectual disabilities.
Scientists have identified a gene mutation in the EZH2 gene that causes Weaver syndrome, a rare genetic disorder characterized by large size at birth and intellectual disability. This breakthrough discovery enables DNA-based diagnostic testing for the disease, providing definitive answers for families seeking a diagnosis.
Researchers found that heart problems in Rett syndrome originate from the loss of the Rett gene (MeCP2) in nerve cells, not heart muscle cells. Abnormalities in brain activity can lead to cardiac malfunctions and death.
A new study published in Journal of Molecular Neuroscience emphasizes the significance of identifying 'overlap syndrome' between ALS and FTD, which can impact patient survival. The research also explores clinical characteristics, diagnostic criteria, and screening strategies for this syndrome.
Researchers found a gene mutation causing calcium channels to be defective, leading to impaired neuronal communication and development. The study used induced pluripotent stem cells to grow brain-like spheres from skin cells of patients with Timothy syndrome, which showed abnormalities in calcium levels and gene expression.
A recent study published in Neurology found that people with Parkinson's disease are nearly three times more likely to experience leg motor restlessness than those without the disease. However, restless legs syndrome was not significantly more common among patients with early-stage Parkinson's disease.
A new DNA-based prenatal blood test can significantly reduce the number of risky diagnostic procedures needed to identify pregnancies with Down syndrome. The test identified 98.6% of affected pregnancies while only 0.2% of normal pregnancies were misidentified as positive.
A 16-year study confirms the accuracy of autism diagnosis in children with Down syndrome using the Diagnostic and Statistical Manual of Mental Disorders (DSM). The research found that clinicians can use the DSM to identify autism spectrum disorders in these individuals, providing them with targeted educational and intervention services.
Researchers found a shared, unusual genomic architecture in patients with severe diseases, including MECP2 duplication syndrome and Pelizaeus-Merzbacher Disease. This structure is associated with increased genetic material dosage and makes the disorder worse.
According to a Canadian Medical Association Journal study, approximately 19% of Canadians have metabolic syndrome. The syndrome is more common among people with lower income and education levels, particularly those with abdominal obesity.
Researchers have discovered a new genetic defect linked to Leigh syndrome, a devastating mitochondrial disease. The finding offers promise for improved diagnosis and potential treatments.
A UCLA study reveals that the loss of a critical protein regulating estrogen and immune activity can lead to metabolic syndrome, characterized by Type 2 diabetes, atherosclerosis, and cancer. The research found that this protein's absence promotes increased fat accumulation, inflammation, and glucose intolerance in female mice.
A new study found that plerixafor, a drug already approved for bone marrow transplants, corrects panleukopenia in patients with WHIM syndrome. This targeted therapy may provide a more effective treatment for this rare immune deficiency.
Researchers at SUNY Downstate have developed a diagnostic test to measure the risk of folate receptor autoantibodies, associated with neural tube defects, autism spectrum disorders, and other neurodevelopmental diseases. The test aims to identify women and children at risk for these conditions, potentially preventing neural tube defect...
A researcher has found that individuals with Down syndrome have substantially altered key eye reflexes, leading to poor balance and motor coordination. The study's findings could lead to new tools for assessing the effectiveness of treatments aimed at improving quality of life.
A study by UC Davis researchers found biological indicators of toxic fat cells in those with metabolic syndrome, which may lead to diabetes and cardiovascular disease. The discovery supports a new high-risk obesity category for these conditions.
People with metabolic syndrome have a 55% increased risk of developing kidney problems, especially lower kidney function. Preventing and managing metabolic syndrome through healthy diet, exercise, and weight loss may help prevent kidney disease.
A team of researchers at Children's National Medical Center has identified the genetic mutation causing Proteus syndrome, a rare disorder characterized by excessive tissue and bone growth. The study found that a point mutation in the AKT1 gene activates sporadic tissue growth associated with Proteus syndrome.
A clinical trial is underway at the University of Colorado to test a drug that could improve memory and learning in those with Down syndrome. The study, led by Dr. Alberto Costa, aims to enhance brain function and potentially increase hope for those affected.
A large-scale study found metabolic syndrome significantly increases risk of developing hepatocellular carcinoma and intrahepatic cholangiocarcinoma, two major types of primary liver cancer. Metabolic syndrome was present in 37% of persons who developed HCC and 30% of those who developed ICC, compared to 17% of those without cancer.
Researchers found that testing for Lynch Syndrome in all colorectal cancer patients is cost-effective and can help identify families at risk. Antiretroviral therapy also increased life expectancy for HIV patients in Africa to nearly normal levels, with men showing lower survival rates than women. In contrast, low health literacy was li...
Researchers found that testing every new colon cancer patient for Lynch syndrome can reduce cancer deaths at a reasonable cost. Testing multiple family members after the initial diagnosis is crucial to spreading the benefit across more relatives, according to the study.
Researchers found that glia support neurons and provide energy substrates necessary for function. Re-expression of MeCP2 solely in astrocytes rescues lifespan, breathing, anxiety, and locomotor activities associated with Rett Syndrome in mouse models.
Researchers found that oxytocin improved trust, mood, and reduced disruptive behavior in Prader-Willi syndrome patients. The hormone, which plays a key role in social interactions and empathy, showed promise as a potential treatment for the condition.
Researchers identified genetic mutations associated with lower cancer risk (e.g., MSH6) and increased risk (e.g., MLH1, MSH2) for ovarian and endometrial cancer in individuals with Lynch syndrome. The study provides age- and gene-specific risk estimates for each tumor type.
Researchers successfully recreated Rett syndrome in adult mice by 'switching off' a critical disease-causing gene, challenging the notion that early expression of the gene protects against the development of symptoms. The study suggests therapies for Rett syndrome may need to be continuously maintained throughout an individual's life.
Researchers at Baylor College of Medicine have found that neurons need the MeCP2 protein throughout their entire existence. Without it, even as an adult, neurons can develop Rett-like behaviors and die prematurely. This discovery opens up new possibilities for treating Rett syndrome patients by providing a steady supply of the protein.
Research by Baylor College of Medicine reveals MeCP2 is required throughout life to maintain healthy brain function. The findings suggest that certain treatments may need to be maintained throughout the lifetime of individuals with Rett Syndrome.
A new UCSF study finds no evidence of a mouse virus in human blood, contradicting previous claims that it caused Chronic Fatigue Syndrome. The study suggests the virus was detected in contaminated laboratory samples, and scientists need to continue searching for the real cause of the illness.
A study found that patients with Sjögren's syndrome are more likely to experience difficulty identifying and describing emotions (alexithymia), which is associated with poorer mental wellbeing. The inability to cry may also contribute to this issue, as patients rely on words and facial expressions instead of tears.
Researchers at the Salk Institute will investigate the connection between genetics and social behavior using Williams syndrome as a model. They hope to gain insight into other neurodevelopmental disorders such as autism.
Mayo Clinic researchers developed a protocol that increased testing for Lynch syndrome by nearly 90%, helping doctors make informed decisions on care timing and delivery. The testing caught 11% of MSI-H tumors that would have been missed, improving early cancer detection.