Within the autistic spectrum, there is remarkable variability in the etiology, presentation, and treatment response. This prospective study was designed to identify, through cluster analysis, subgroups of individuals with ASD without intellectual disability (ID) based on the severity of the core symptoms in childhood. The secondary aim was to explore whether these subgroups and a group with typical development (TD) differ in cognitive, adaptive, and social aspects measured in adolescence. The sample at baseline was comprised of 52 children with ASD without ID and 37 children with TD, aged 7-11. Among the ASD group, three clusters were identified. Cluster 1 (40%), 'high severity', presented high symptom severity on the DSM-5 criteria and the Social Communication Questionnaire. Cluster 2 (34%) showed 'moderate severity' on most of the scores. Cluster 3 (25%) corresponded to 'low severity', showing moderate social impairment and low restrictive, repetitive patterns of behavior, interests and activities. At 5-year follow-up, 45 adolescents with ASD without ID and 27 adolescents with TD were assessed. All clusters had significantly more difficulties in EF, ToM, socialization and adaptive behavior compared to TD. Social and adaptive trajectories between the ASD subgroups were relatively different; Cluster 3 showed poorer socialization and daily living skills than the other two subgroups. These findings highlight the importance of fully assessing social, cognitive, and adaptive profiles to develop care plans tailored to specific needs.
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http://dx.doi.org/10.3390/jcm10102220 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6.
Although chromatin remodelers are among the most important risk genes associated with neurodevelopmental disorders (NDDs), the roles of these complexes during brain development are in many cases unclear. Here, we focused on the recently discovered ChAHP chromatin remodeling complex. The zinc finger and homeodomain transcription factor ADNP is a core subunit of this complex, and de novo mutations lead to intellectual disability and autism spectrum disorder.
View Article and Find Full Text PDFTurk J Pediatr
December 2024
Department of Pediatric Neurology, Ankara Bilkent City Hospital, Ankara Yildirim Beyazit University Faculty of Medicine, Ankara, Türkiye.
Background: Metoclopramide, a dopamine antagonist employed for its antiemetic effects, can precipitate neuropsychiatric adverse effects, including extrapyramidal symptoms and, in a few instances, acute psychosis. Although there have been reports of metoclopramide-induced psychosis in elderly individuals, there is no documentation of such incidents in children as far as we are aware.
Case Presentation: This case report describes an 11-year-old girl with a history of mild intellectual disability and attention deficit hyperactivity disorder, managed with 10 mg of methylphenidate daily.
Ther Adv Rare Dis
January 2025
SynGAP Research Fund, 2856 Curie Pl., San Diego, CA 92122, USA.
-related disorder (SRD) is a developmental and epileptic encephalopathy caused by a disruption of the gene. At the beginning of 2024, it is one of many rare monogenic brain disorders without disease-modifying treatments, but that is changing. This article chronicles the last 5 years, beginning when treatments for SRD were not publicly in development, to the start of 2024 when many SRD-specific treatments are advancing.
View Article and Find Full Text PDFEpilepsia Open
January 2025
Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Protein-activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is part of the p21-activated kinases (PAKs) family of Ras-signaling serine/threonine kinases. Pathogenic variants in the X-linked gene PAK3 have been described in patients with neurodevelopmental syndromes.
View Article and Find Full Text PDFJ Appl Res Intellect Disabil
January 2025
The Ohio State University, Columbus, USA.
Introduction: Sedentary behaviour among individuals with intellectual disabilities, driven by barriers such as limited access to adapted programs and low self-efficacy, contributes to chronic health conditions. This study evaluates the effectiveness of the Valemee Visual System (VVS), a novel tool offering visual support and structured exercise programming, in improving physical fitness and promoting exercise independence in this population.
Methods: A repeated measures design was employed with an 8-week intervention involving 22 participants aged 22-44 with mild to moderate intellectual disabilities.
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