Autism is a developmental disability characterized by atypical social interaction, interests or body movements, and communication. Our review examines the empirical status of three communication phenomena believed to be unique to autism: pronoun reversal (using the pronoun when the pronoun is intended, and vice versa), echolalia (repeating what someone has said), and a reduced or even reversed production-comprehension lag (a reduction or reversal of the well-established finding that speakers produce less sophisticated language than they can comprehend). Each of these three phenomena has been claimed to be unique to autism; therefore, each has been proposed to be diagnostic of autism, and each has been interpreted in autism-centric ways (psychoanalytic interpretations of pronoun reversal, behaviorist interpretations of echolalia, and clinical lore about the production-comprehension lag). However, as our review demonstrates, none of these three phenomena is in fact unique to autism; none can or should serve as diagnostic of autism, and all call into question unwarranted assumptions about autistic persons and their language development and use.
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http://dx.doi.org/10.1146/annurev-linguist-030514-124824 | DOI Listing |
Genet Med
December 2024
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Division of Clinical Medicine, University of Sheffield, Sheffield, UK. Electronic address:
Purpose: The TAOK proteins are a group of serine/threonine-protein kinases involved in signalling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity.
View Article and Find Full Text PDFJ Autism Dev Disord
December 2024
Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, 1977 Butler Boulevard, Houston, TX, 77030, USA.
Parent-led cognitive behavioral therapy (CBT) is an efficient, promising form of therapy that may be well suited for autistic youth with anxiety disorders. A recent clinical trial found that parent-led CBT - in which parents led their child through a guided CBT workbook with varying degrees of therapist support - was efficacious for reducing anxiety and associated functional impairment. While such findings demonstrate promise for future intervention development and dissemination efforts with this population, more work is needed to elucidate clinical factors that impact response to treatment as well as drop-out.
View Article and Find Full Text PDFmedRxiv
December 2024
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Postpartum psychosis is a severe psychiatric condition marked by the abrupt onset of psychosis, mania, or psychotic depression following childbirth. Despite evidence for a strong genetic basis, the roles of common and rare genetic variation remain poorly understood. Leveraging data from Swedish national registers and genomic data from the All of Us Research Program, we estimated family-based heritability at 55% and WGS-based heritability at 37%, with an overrepresentation on the X chromosome.
View Article and Find Full Text PDFAutism
December 2024
Autism and Related Neurodevelopmental Disorders Research Team, Tabriz University of Medical Sciences, Tabriz, Iran.
The autism spectrum disorder (ASD) registry program presents a unique opportunity to facilitate advanced research in various aspects of ASD, particularly in low-resource countries like Iran. Given the international significance of autism research, registry programs play a critical role in data sharing. ASD registry programs have been effectively established in high-income countries over a few decades; however, there are limited examples from low- and middle-income countries.
View Article and Find Full Text PDFAm J Med Genet A
December 2024
Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12.
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