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Last Posted: Sep 19, 2023
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Underdiagnosis of autism in children with fragile X syndrome reveals need for better education, early screening
E Bluvas, Medical Xpress, August 2023

From the article: A recent study "conducted comprehensive, best-practice clinical autism diagnostic assessments in young males (ages 15-24) with fragile X syndrome (i.e., the most common single-gene cause of autism spectrum disorder and other intellectual disabilities). The study found that, although 75 percent of participants met criteria for autism through the research protocol, only 31 percent had been identified as having autism in the community."

Study proposes use of artificial intelligence to diagnose autism spectrum disorder
R Muniz, Medical XPress, August 2023

Much recent research proposes methods for diagnosing ASD based on machine learning but uses a single statistical parameter, ignoring brain network organization, which is the innovation featured by this study, the article notes. The analysis of fMRI data highlighted changes in certain brain regions associated with cognitive, emotional, learning and memory processes.

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
C Lowther et al, AJHG, August 17, 2023

Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic approach for the assessment of autism spectrum disorder (ASD) and fetal structural anomalies (FSAs). However, few studies have comprehensively evaluated its performance against current standard-of-care diagnostic tests: karyotype, chromosomal microarray (CMA), and exome sequencing (ES). Overall, this large-scale evaluation demonstrated that GS significantly outperforms each individual standard-of-care test while also outperforming the combination of all three tests, thus warranting consideration as the first-tier diagnostic approach for the assessment of ASD and FSAs.

Evaluation of Birth Weight and Neurodevelopmental Conditions Among Monozygotic and Dizygotic Twins.
Johan Isaksson et al. JAMA Netw Open 2023 6 (6) e2321165

After adjustment for genetic factors, is birth weight associated with neurodevelopmental conditions? In this case-control study of 393 twins in Sweden, the twin with a lower birth weight in monozygotic twin pairs, but not dizygotic pairs, had more autism and attention-deficit/hyperactivity disorder (ADHD) symptoms, lower IQ ratings, and higher odds of having a diagnosis of autism and ADHD compared with their co-twin. These findings suggest that birth weight contributes to neurodevelopmental conditions when adjusting for genetic factors.

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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