Kanner, in 1943, and Asperger, in 1944, published papers that have been considered the first descriptions of autism. Kanner is acknowledged as having been the first to recognise this condition, while Asperger is attributed with the identification of a milder form of autism which has been denominated Asperger's syndrome. Kanner's paper played an important role in the development of the conceptualisation of autism due to its being published in the United States, where it became popular in the field of child psychiatry. In contrast, Asperger's work, written in German during the period dominated by Nazism, was practically ignored until almost four decades later. A review of the historical data, mostly collected by Silberman, reveals that Kanner had first-hand knowledge of the work on autism that Asperger had begun ten years earlier. Moreover, on re-reading and analysing the pioneering publications it becomes clear that the contributions made by Asperger are still fully valid today, to the point of having intuited a complex polygenic aetiology and that it would fit in perfectly with autism spectrum disorder in the DSM-5.
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J Racial Ethn Health Disparities
January 2025
Louis A. Faillace, MD, Department of Psychiatry and Behavioral Sciences, McGovern Medical School, UTHealth Science Center at Houston, UTHealth Houston Behavioral and Biomedical Sciences Building, 1941 East Rd, Houston, TX, 77054, USA.
The present study examined the effects of a culturally adapted intervention, ¡Iniciando! la Adultez, on sleep and health-related quality of life (HRQoL) in Latino young adults with autism spectrum disorder (ASD) and their Spanish-speaking parents. The intervention targeted the transition to adulthood, a period associated with increased challenges in sleep and HRQoL, particularly for underserved Latino populations. Participants included 26 young adults and 38 parents who completed assessments at baseline and post-treatment.
View Article and Find Full Text PDFPsychiatr Clin North Am
March 2025
Harvard University, Boston Children's Hospital, Tic Disorders and Tourette Syndrome Program, Department of Neurology, 300 Longwood Avenue, Boston, MA 02115, USA. Electronic address:
Repetitive behaviors are the hallmark of many neuropsychiatric disorders, including Tourette syndrome (TS), obsessive-compulsive disorder (OCD), and autism spectrum disorder (ASD). Tics, compulsions, and stereotypies may appear similar and can be difficult to disentangle. This review addresses similarities and differences between these behaviors including clinical presentations, neuroimaging, genetics, and treatment paradigms in order to clarify the relationship between these disorders.
View Article and Find Full Text PDFCell Rep Med
January 2025
DiMePRe-J-Department of Precision and Rigenerative Medicine-Jonic Area, University of Bari "Aldo Moro", Bari, Italy.
The diagnosis of autism is currently based on the developmental history, direct observation of behavior, and reported symptoms, supplemented by rating scales/interviews/structured observational evaluations-which is influenced by the clinician's knowledge and experience-with no established diagnostic biomarkers. A growing body of research has been conducted over the past decades to improve diagnostic accuracy. Here, we provide an overview of the current diagnostic assessment process as well as of recent and ongoing developments to support diagnosis in terms of genetic evaluation, telemedicine, digital technologies, use of machine learning/artificial intelligence, and research on candidate diagnostic biomarkers.
View Article and Find Full Text PDFAm J Hum Genet
January 2025
Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA. Electronic address:
Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDDs), including autism, attention-deficit/hyperactivity disorder, and epilepsy.
View Article and Find Full Text PDFJ Speech Lang Hear Res
January 2025
Speech-Language-Hearing Center, School of Foreign Languages, Shanghai Jiao Tong University, China.
Purpose: Neurotypical individuals show a robust "global precedence effect (GPE)" when processing hierarchically structured visual information. However, the auditory domain remains understudied. The current research serves to fill the knowledge gap on auditory global-local processing across the broader autism phenotype under the tonal language background.
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