Autism (sometimes called “classical autism”) is the most common condition in a group of developmental disorders known as the autism spectrum disorders (ASDs). Autism is characterized by impaired social interaction, problems with verbal and nonverbal communication, and unusual, repetitive, or severely limited activities and interests. Other ASDs include Asperger syndrome, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (usually referred to as PDD-NOS). Experts estimate that three to six children out of every 1,000 will have autism. Males are four times more likely to have autism than females.
For patients with disorders such as autism and schizophrenia, mutations in the same gene could require different treatments, according to new research from Yale School of Medicine (YSM).
Researchers from the University of Las Vegas Nevada (UNLV) and The Hospital for Sick Children (SickKids) have discovered a genetic connection between autism spectrum disorder (ASD) and myotonic dystrophy type 1 (DM1), a rare genetic disorder.
In a manuscript published today in the American Journal of Psychiatry titled Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation, authors describe how they leveraged long-read genomic sequencing (LRS) to make a genetic diagnosis in a17-year-old male with autism spectrum disorder, intellectual disability, and acute behavioral decompensation that would not have been possible by standard methods.
A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs).
Riddle me this: how can it be that reading these words activates nearly identical word-sensitive patches of the brain's visual system in you and nearly every other reader of this story? And that a different set of face-sensitive visual regions-again in almost identical positions in each reader's brain-would activate to process the faces of the researchers, should you meet them?
You may scarcely notice it, but much of what you do every day requires your brain to engage in perceptual learning.
A new study published in Cell Reports reveals a breakthrough discovery linking genetic variants in the gene ITSN1 to a significantly elevated risk of Parkinson's disease, a neurodegenerative condition that affects nearly 2% of adults older than 65 years.
A study of artificial human and chimpanzee nerve cells revealed how faster-evolving DNA gives neurons the ability to build increasingly complex brain power.
Building on more than two decades of research, a study by MIT neuroscientists at The Picower Institute for Learning and Memory reports a new way to treat pathology and symptoms of fragile X syndrome, the most common genetically-caused autism spectrum disorder.
The origins of human language remain mysterious. Are we the only animals truly capable of complex speech? Are Homo sapiens the only hominids who could give detailed directions to a far-off freshwater source or describe the nuanced purples and reds of a dramatic sunset?
Virginia Tech neuroscientists have uncovered a mitochondrial process that supports the brain cells critical for learning, memory, and social recognition.
A recent study has uncovered how specific genetic mutations in α2δ-1 and α2δ-3 proteins linked to autism spectrum disorders (ASD) alter neuronal functionality. These mutations significantly reduce the proteins’ membrane expression and synaptic targeting but do not impair calcium channel activity or trans-synaptic signalling.
The gene neuropilin2 encodes a receptor involved in cell-cell interactions in the brain and plays a key role in regulating the development of neural circuits.
In a comprehensive Genomic Press Interview, researchers from the University of Texas Health Science Center at San Antonio and Hirosaki University have uncovered critical new insights into the developmental trajectory of social behaviors in fragile X syndrome, the leading genetic cause of autism spectrum disorder.
New research published in The American Journal of Human Genetics has identified a previously unknown genetic link to autism spectrum disorder (ASD). The study found that variants in the DDX53 gene contribute to ASD, providing new insights into the genetic underpinnings of the condition.
If you've heard of two of the brain's chemical neurotransmitters, it's probably dopamine and serotonin. Never mind that glutamate and GABA do most of the work -; it's the thrill of dopamine as the "pleasure chemical" and serotonin as tender mood-stabilizer that attract all the headlines.
Findings from marmoset studies highlight the role of social interactions in brain development, providing clues to the evolution of human social skills.
Using stem cells generated from patients with a rare and severe form of autism spectrum disorder and intellectual disability, Scripps Research scientists have grown personalized "mini-brains" (or organoids) to study the disorder in new detail.
When a gene produces too much protein, it can have devastating consequences on brain development and function.
The mechanisms behind intellectual disabilities and autism remain largely unknown. However, researchers from the labs of Prof. Pierre Vanderhaeghen and Prof. Vincent Bonin at the VIB-KU Leuven Center for Brain & Disease Research and NERF have identified that mutations in the SYNGAP1 gene interfere with the extended development of human neurons, a process believed to be critical for normal cognitive function.
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