Children with autism spectrum disorder (ASD) are at risk for co-occurring medical conditions, many of which have also been reported among individuals with mutations in ASD-associated genes. This study examined rates of co-occurring medical conditions across 301 individuals with disruptive mutations to 1 of 18 ASD-risk genes in comparison to rates of conditions in an idiopathic ASD sample. Rates of gastrointestinal problems, seizures, physical anomalies, and immune problems were generally elevated, with significant differences in rates observed between groups. Results may inform medical care of individuals with ASD-associated mutations and research into mechanisms of co-occurring medical conditions in ASD.
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http://dx.doi.org/10.1080/02739615.2020.1741361 | DOI Listing |
JCO Precis Oncol
January 2025
McGill University Faculty of Medicine, Montréal, QC, Canada.
Purpose: MAP2K1/MEK1 mutations are potentially actionable drivers in cancer. MAP2K1 mutations have been functionally classified into three groups according to their dependency on upstream RAS/RAF signaling. However, the clinical efficacy of mitogen-activated protein kinase (MAPK) pathway inhibitors (MAPKi) for MAP2K1-mutant tumors is not well defined.
View Article and Find Full Text PDFJ Autism Dev Disord
January 2025
Institutes for Behavior Resources, Inc, 2104 Maryland Ave., Baltimore, MD, 21218, USA.
We aimed to compare sleep problems in autistic and non-autistic adults with co-occurring depression and anxiety. The primary research question was whether autism status influences sleep quality, after accounting for the effects of depression and anxiety. We hypothesized that autistic adults would report higher levels of depression, anxiety, and sleep problems compared to non-autistic adults, after controlling for these covariates.
View Article and Find Full Text PDFJ Autism Dev Disord
January 2025
Department of Psychology, University of Alabama at Birmingham, AL, Birmingham, USA.
Purpose: Prior research demonstrates that children with autism are more likely to experience unintentional injuries than the general population. Limited research exists on the symptoms or traits directly related to autism and this elevated injury rate, especially from the perspective of families with children with autism. This study used qualitative methodology to elucidate risk factors that may contribute to unintentional injuries in children with autism from the perspective of mothers raising children with autism.
View Article and Find Full Text PDFAutism Res
January 2025
Department of Psychiatry, Harvard Medical School, Boston, Massachusetts, USA.
Catatonia is a highly morbid psychomotor and affective disorder, which can affect autistic individuals with and without intellectual disability. Catatonic symptoms are treatable with pharmacotherapy and electroconvulsive therapy, but the longitudinal effectiveness of these treatments in autistic individuals has not been described. We conducted a prospective observational cohort study of patients with autism and co-morbid catatonia who received outpatient care in a specialized outpatient clinic from July 1, 2021 to May 31, 2024.
View Article and Find Full Text PDFJ Autism Dev Disord
January 2025
School of Psychological Sciences, Monash University, 18 Innovation Walk, Melbourne, VIC, 3800, Australia.
Oculomotor characteristics, including accuracy, timing, and sensorimotor processing, are considered sensitive intermediate phenotypes for understanding the etiology of neurodevelopmental conditions, such as autism and ADHD. Oculomotor characteristics have predominantly been studied separately in autism and ADHD. Despite the high rates of co-occurrence between these conditions, only one study has investigated oculomotor processes among those with co-occurring autism + ADHD.
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