Three experiments examined the role of attention in explaining dyadic (child-adult) and triadic (child-adult-object) joint attention difficulties in autism. Experiments 1 and 2 investigated children's ability to orient to an adult's attention bid and to follow the direction of a human or nonhuman cue. Experiment 3 tested ability to disengage and shift attention to objects. Results showed autism-specific difficulties at both dyadic and triadic levels. Children with autism were less responsive than developmentally delayed controls in orienting to attention bids and in following a human head-turn cue yet had no difficulty in shifting attention and were faster overall in orienting to targets. Results suggest a specific developmental delay in which children with autism rely on the presence of objects in the visual field to guide action. The relation between this problem and autistic children's difficulties with human communicative signals is discussed.
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http://dx.doi.org/10.1037//0012-1649.36.2.261 | DOI Listing |
Psychiatr 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
Center for Autism Services, Science and Innovation, Kennedy Krieger Institute, Baltimore, MD.
Purpose: Despite group-level improvements in active engagement and related outcomes, significant individual variability in response to early intervention exists. The purpose of this preliminary study was to examine the effects of a group-based Naturalistic Developmental Behavioral Intervention (NDBI) on active engagement among a heterogeneous sample of young autistic children in a clinical setting.
Method: Sixty-three autistic children aged 24-60 months ( = 44.
Biol Open
January 2025
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Cell fate decisions during cortical development sculpt the identity of long-range connections that subserve complex behaviors. These decisions are largely dictated by mutually exclusive transcription factors, including CTIP2/Bcl11b for subcerebral projection neurons and BRN1/Pou3f3 for intra-telencephalic projection neurons. We have recently reported that the balance of cortical CTIP2-expressing neurons is altered in a mouse model of DDX3X syndrome, a female-biased neurodevelopmental disorder associated with intellectual disability, autism spectrum disorder, and significant motor challenges.
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