Chances are you know someone with obsessive-compulsive disorder (OCD). It’s estimated that more than 2 million Americans struggle with this mental health condition, characterized by unwanted recurring thoughts and/or repetitive behaviors, such as excessive hand washing or constant counting of objects. While we know that OCD tends to run in families, it’s been frustratingly difficult to identify specific genes that influence OCD risk.
Now, an international research team, partly funded by NIH, has made progress thanks to an innovative genomic approach involving dogs, mice, and people. The strategy allowed them to uncover four genes involved in OCD that turn out to play a role in synapses, where nerve impulses are transmitted between neurons in the brain. While more research is needed to confirm the findings and better understand the molecular mechanisms of OCD, these findings offer important new leads that could point the way to more effective treatments.
Tags: ASD, autism, Autism Spectrum Disorder, brain, citizen science, compulsive behavior, CTTNBP2, Darwin's Dogs, DNA, DNA sequencing, Doberman Pinscher, dogs, gene variants, genomics, German Shepherd, HTR2A, Jack Russell terrier, mental health, mental illnesses, neurology, non-coding DNA, NRXN1, obsessive-compulsive disorder, OCD, pets, REEP3, regulatory elements, repetitive thoughts, serotonin, serotonin reuptake inhibitors, Shetland Sheepdog, SSRI, synapse
Research shows that the roots of autism spectrum disorder (ASD) generally start early—most likely in the womb. That’s one more reason, on top of a large number of epidemiological studies, why current claims about the role of vaccines in causing autism can’t be right. But how early is ASD detectable? It’s a critical question, since early intervention has been shown to help limit the effects of autism. The problem is there’s currently no reliable way to detect ASD until around 18–24 months, when the social deficits and repetitive behaviors associated with the condition begin to appear.
Several months ago, an NIH-funded team offered promising evidence that it may be possible to detect ASD in high-risk 1-year-olds by shifting attention from how kids act to how their brains have grown . Now, new evidence from that same team suggests that neurological signs of ASD might be detectable even earlier.
Tags: ASD, autism, Autism Spectrum Disorder, brain, brain connectivity, brain connectivity maps, brain development, brain scans, childhood disease, childhood vaccinations, computer learning, diagnosis, early detection, fMRI, Functional magnetic resonance imaging, imaging, infants, machine learning, neuroimaging, neurology, vaccines
For children with autism spectrum disorder (ASD), early diagnosis is critical to allow for possible interventions at a time when the brain is most amenable to change. But that’s been tough to implement for a simple reason: the symptoms of ASD, such as communication difficulties, social deficits, and repetitive behaviors, often do not show up until a child turns 2 or even 3 years old.
Now, an NIH-funded research team has news that may pave the way for earlier detection of ASD. The key is to shift the diagnostic focus from how kids act to how their brains grow. In their brain imaging study, the researchers found that, compared to other children, youngsters with ASD showed unusually rapid brain growth from infancy to age 2. In fact, the growth differences were already evident by their first birthdays, well before autistic behaviors typically emerge.
Tags: ASD, Asperger syndrome, autism, Autism Spectrum Disorder, brain, brain imaging, child health, communication disorder, diagnostics, infant, Infant Brain Imaging Study, machine learning, MRI, pediatrics
We know that a combination of genetic and environmental factors influence a child’s risk of autism spectrum disorder (ASD), which is a diverse group of developmental brain conditions that disrupt language, communication, and social interaction. Still, there remain a great many unknowns, including the crucial issues of what proportion of ASD risk is due to genes and what sorts of genes are involved. Answering such questions may hold the key to expanding our understanding of the disorder—and thereby to devising better ways to help the millions of Americans whose lives are touched by ASD .
Last year, I shared how NIH-funded researchers had identified rare, spontaneous genetic mutations that appear to play a role in causing ASD. Now, there’s additional news to report. In the largest study of its kind to date, an international team supported by NIH recently discovered that common, inherited genetic variants, acting in tandem with each other or with rarer variants, can also set the stage for ASD—accounting for nearly half of the risk for what’s called “strictly defined autism,” the full-blown manifestation of the disorder. And, when the effects of both rare and common genetic variants are tallied up, we can now trace about 50 to 60 percent of the risk of strictly defined autism to genetic factors.
Posted In: Science
Tags: ASD, autism, Autism Spectrum Disorder, brain development, environment, environmental factors, genes, genetic variants, PAGES, Population-Based Autism Genetics and Environment Study, risk, strictly defined autism