People with autism who are diagnosed earlier as opposed to later in life have distinct genetic profiles, according to a study published last month in Nature. Many factors may influence when someone receives their diagnosis, and several theories explain how genetics contributes. By one line of thinking, people who have subtle autism-related traits during early […]
Rare variation: A new study describes a specific two-hit genetic variation in a cohort of autistic families, in which a gene deletion on one allele and a genetic variant on the other allele may combine. Called “deletion compound heterozygosity,” the phenomenon is difficult to pinpoint with conventional genetic analysis even as it may contribute to […]
Low genetic diversity across a person’s genome predisposes those with PTEN variants to neurodevelopmental conditions, a new study suggests. The findings may explain why people carrying the same PTEN variant often experience different clinical outcomes. Among people with neurodevelopmental conditions and PTEN variants, increased homozygosity—which occurs when a person carries the same variant in both […]
Guidance counseled: Less than 26 percent of U.S. children with autism and intellectual disability on Medicaid receive genetic testing for the conditions, according to a new study. The study cohort, which included 241,060 children, tracked Medicaid claims from 2008 to 2016. The rate of genetic testing is low, considering that since 2010 the American College […]
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 […]
