Editorial: Personalized precision medicine in autism spectrum related disorders, volume II
This publication is included in the Autistic Autism Scholarship Project. one author of this publication is identified as autistic in the project.
About the autistic author markerGabis, L. V., Nissenkorn, A., & Barbaro, J. (2024). Editorial: Personalized precision medicine in autism spectrum related disorders, volume II. Frontiers in Neurology, 15, 1392642-1392642. https://doi.org/10.3389/fneur.2024.1392642
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Abstract
Individuals with a diagnosis of Autism Spectrum Disorder (ASD, "autism") share differences in social attention and communication, and the presence of repetitive and sensory behaviors and/or focused and specialized interests, as defined by the Diagnostic and Statistical Manual of Mental Disorders-5-TR (DSM-5-TR; APA, 2022 in First MB, 2022). However, individual differences in specific developmental trajectories linked to autism include different etiologies (genetic and environmental, such as premature birth), different age of identification, diagnosis and cooccurring conditions.As a result of these individual differences, it is pertinent that a personalized approach is taken to providing supports and services for individual diagnosed with ASD that not only relate to the core traits of autism, but also the management of its many cooccurring conditions. Thus, this research topic explores a more personalized approach to the identification, diagnosis, and support of children with autism, commencing in infancy.In this edition, early identification of autism is discussed in relation to a large, state-wide rollout of training on autism to primary health practitioners, with the aim of providing Tailoring supports for autism with and without co-occurring conditions, is critical. To assist with this, we can investigate the path from etiology to supports within related neurodevelopmental conditions such as Fragile X syndrome and Down Syndrome. In "A Longitudinal Investigation of Pragmatic Language Across Contexts in Autism and Related Neurodevelopmental Conditions", the researchers focused on pragmatic language skills in individuals with autism and those with related neurodevelopmental conditions (Martin et al 2023). The study included boys with "idiopathic autism spectrum disorder (ASD)", fragile X syndrome with and without ASD (FXS-ASD, FXS-O), Down syndrome (DS), and typically developing (TD) boys. Results indicated that boys with idiopathic ASD and FXS-ASD showed the most significant difficulties in pragmatic language across different contexts, with the most pronounced difficulties observed in unstructured conversations. The study highlighted the importance of understanding social language difficulties across various neurodevelopmental conditions and tailoring assessments and supports accordingly.In the study "An escalating continuum of learning and attention difficulties from premutation to full mutation in female carriers of FMR1 expansion" (Gabis et al, 2023), the cognitive effects of Fragile X premutation in females was examined. Findings revealed a correlation between the number of CGG repeats and learning and attention difficulties, impacting daily functioning skills such as driving and handling schedules. Despite these challenges, most carriers of premutation and full mutation functioned well in many areas. This study highlighted the need for specific interventions to address learning difficulties and improve daily functioning linked to premutation of FMR1 gene. These manuscripts collectively underscore the significance of early autism identification and examining genetic linked trajectories and sex differences in children with autism. It highlights the importance of training of healthcare practitioners on early autism presentation, and tailoring supports for people with autism with and without co-occurring conditions such as Fragile X and Down Syndrome, particularly in understanding and supporting communication and learning differences.
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Josephine Barbaro *Autistic author. Learn more… , Nancy Sadka , Melissa Gilbert , Erin Beattie , Xia Li , Lael Ridgway et al. (2022). Diagnostic Accuracy of the Social Attention and Communication Surveillance–Revised With Preschool Tool for Early Autism Detection in Very Young Children . JAMA Network Open, 5(3), e2146415. American Medical Association (AMA).
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Michael B. First , Diana E. Clarke , Lamyaa Yousif , Ann M. Eng , Nitin Gogtay , Paul S. Appelbaum (2023). DSM-5-TR: Rationale, Process, and Overview of Changes . Psychiatric Services, 74(8), 869-875. American Psychiatric Association Publishing.Crossref OpenAlex OpenCitations