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Background: Atypical reactions to the sensory environment are often reported in autistic individuals, with a high degree of variability across the sensory modalities. These sensory differences have been shown to promote challenging behaviours and distress in autistic individuals and are predictive of other functions including motor, social, and cognitive abilities. Preliminary research suggests that specific sensory differences may cluster together within individuals creating discrete sensory phenotypes. However, the manner in which these sensory differences cluster, and whether the resulting phenotypes are associated with specific cognitive and social challenges is unclear.
Methods: Short sensory profile data from 599 autistic children and adults between the ages of 1 and 21 years were subjected to a K-means cluster analysis. Analysis of variances compared age, adaptive behaviour, and traits associated with autism, attention-deficit and hyperactivity disorder, and obsessive and compulsive disorder across the resultant clusters.
Results: A five-cluster model was found to minimize error variance and produce five sensory phenotypes: (1) sensory adaptive, (2) generalized sensory differences, (3) taste and smell sensitivity, (4) under-responsive and sensation seeking, and (5) movement difficulties with low energy. Age, adaptive behaviour, and traits associated with autism, attention-deficit and hyperactivity disorder, and obsessive and compulsive disorder were found to differ significantly across the five phenotypes.
Limitations: The results were based on parent-report measures of sensory processing, adaptive behaviour, traits associated with autism, attention-deficit and hyperactivity disorder, and obsessive and compulsive disorder, which may limit the generalizability of the findings. Further, not all measures are standardized, or psychometrically validated with an autism population. Autistic individuals with an intellectual disability were underrepresented in this sample. Further, as these data were obtained from established records from a large provincial database, not all measures were completed for all individuals.
Conclusions: These findings suggest that sensory difficulties in autistic individuals can be clustered into sensory phenotypes, and that these phenotypes are associated with behavioural differences. Given the large degree of heterogeneity in sensory difficulties seen in the autistic population, these sensory phenotypes represent an effective way to parse that heterogeneity and create phenotypes that may aid in the development of effective treatments and interventions for sensory difficulties.
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http://dx.doi.org/10.1186/s13229-021-00471-5 | DOI Listing |
J Anat
September 2025
Institute of Biology, Biotechnology and Environmental Protection, Faculty of Natural Sciences, University of Silesia in Katowice, Katowice, Poland.
Vertebrates exhibit remarkable morphological diversity, with the head representing an exceptionally complex anatomical structure shaped by adaptations to feeding ecology, brain size, and sensory organ specialization. Proper fusion of facial prominences and the coordinated growth of the skull and brain are essential for normal craniofacial development in vertebrates, including humans. Disruptions in these processes, whether due to gene mutations or external factors, can result in craniofacial malformations.
View Article and Find Full Text PDFEMBO Mol Med
September 2025
Department of Neurology, Columbia University, New York, NY, 10032, USA.
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by ubiquitous deficiency in the SMN protein. The identification of disease modifiers is key to understanding pathogenic mechanisms and broadening the range of targets for developing SMA therapies that complement SMN upregulation. Here, we report a cell-based screen that identified inhibitors of p38 mitogen-activated protein kinase (p38 MAPK) as suppressors of proliferation defects induced by SMN deficiency in mouse fibroblasts.
View Article and Find Full Text PDFCommun Biol
September 2025
Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.
Neuronal development and function are orchestrated by a plethora of regulatory mechanisms that control the abundance, localization, interactions, and function of proteins. A key role in this regard is assumed by post-translational protein modifications (PTMs). While some PTM types, such as phosphorylation or ubiquitination, have been explored comprehensively, PTMs involving ubiquitin-like modifiers (Ubls) have remained comparably enigmatic (Ubls).
View Article and Find Full Text PDFIntroduction: Frailty, characterized by a reduction in intrinsic capacity across multiple physiological systems, is a key concern in healthy aging. Insight in the trajectory of an individual's functional ability and intrinsic reserve capacity in a relatively younger population of older adults is lacking. This study aims to investigate the early stages of frailty by tracking trajectories of physical indicators of intrinsic capacity before frailty becomes clinically evident.
View Article and Find Full Text PDFNurs Res
September 2025
College of Nursing & Institute of Nursing Research, Korea University, Seoul, South Korea.
Background: Existing research fails to address the complex nature of nonspecific chronic lower back pain (cLBP ) despite its detrimental effect on economic, societal, and medical expenditures.
Objectives: We developed a nurse-led, mobile-delivered self-management intervention-Problem-Solving Pain to Enhance Living Well (PROPEL-M)-and evaluated its usability, feasibility, and initial efficacy for South Korean adults with nonspecific cLBP.
Methods: This study was composed of two phases: (a) lab and field usability testing for a gamified mobile device application; and (b) a pilot study employing a one-arm pre-test and post-test design among adults aged 18-60 years with nonspecific cLBP.