Cerebellar check: The cerebellum, an old and understudied brain region, may be less connected to autism than previously thought. Some genomic areas that help determine cerebellar size are associated with autism, schizophrenia and bipolar disorder, according to a new study. But heritable genetic variants across the genome that also influence cerebellar size are not. The […]
Research summary People with autism are at increased risk of developing gastrointestinal disorders such as inflammatory bowel disease, ulcerative colitis, or Crohn’s disease, according to a review of eight studies. Autism research Various interventions to improve balance have been shown to be helpful in autistic children and adolescents. Perception and motor skills The severity of […]
Yongyuan Dai / Getty Images Researchers in China have cataloged genetic variations in nearly 3,000 Chinese and constructed a comprehensive new reference genome for that population. The resource, called NyuWa, freely available online, could help researchers understand the effects of genetic variants in people with autism. “The NyuWa resource will help advance medical research in […]
Multiple hits: Combinations of genetic variants can affect autism traits by altering the expression of other genes. Westend61 / Getty Images Rare genetic variants that alter the expression of genes in the brain contribute to autism in people who also have a rare autism-related mutation, according to a new study. The results help explain how […]
Common and rare variants in or near certain autism-associated genes can have opposite effects on cognition. Likewise, some autistic people carry autism-related variants with opposing effects on levels of intelligence. Two independent teams presented the unpublished results yesterday at the American Society of Human Genetics 2021 conference, which is being held virtually for the second […]
Missed Opportunity: Few autistic people undergo genetic testing despite being recommended by experts. SDI Productions / iStock Brenda Finucane Deputy Director, Institute for Autism and Developmental Medicine at Geisinger When Brenda Finucane began working as a genetic counselor, few DNA testing tools were available to her and her colleagues. They relied mainly on karyotyping, which […]
Missed Opportunity: Few autistic people undergo genetic testing despite being recommended by experts. SDI Productions / iStock Brenda Finucane Deputy Director, Institute for Autism and Developmental Medicine at Geisinger When Brenda Finucane began her work as a genetic counselor, few DNA testing tools were available to her and her colleagues. They relied mainly on karyotyping, […]
Research summary An independent analysis confirmed diagnoses of autism reported by home and caregivers in 251 of 254 participants in SPARK, a large genetic autism study. (SPARK is funded by the Simons Foundation, Spectrum’s parent organization.) Journal of Autism and Developmental Disorders Children with dup15q syndrome, an autism-related disorder, exhibit altered brain wave activity while […]
Anna Gui Postdoctoral researcher, Birkbeck, University of London Emily Jones professor, Birkbeck, University of London Advances in genetics have revolutionized our understanding of the origins of autism. We know that hundreds of genes with different functions can contribute to the disease, and many of these genes primarily affect the formation of the brain during prenatal […]
Double diagnosis: when one twin has autism or autism characteristics, the other twin often has insomnia, a new study shows. Getty Images The genetic factors influencing autism may overlap with those underlying insomnia, according to a new study of autistic people and their relatives. In contrast, the two conditions show a minimal overlap of environmental […]
Earlier this month, researchers reported unpublished preliminary results from a pilot drug study for ADNP syndrome, a rare genetic disorder often accompanied by autism. During the nearly one-year study, 10 children, ages 6 to 12, took a low dose of ketamine. The drug is approved for the treatment of depression and is used in higher […]
Most mornings, Huda Zoghbi, 67, climbs a glass-encased, curling staircase to reach her lab on the top and 13th floor of the Jan and Dan Duncan Neurological Research Institute in Houston, Texas. The twisting glass tower, which she designed with a team of architects, echoes the double helix of DNA — a structure that has […]
