Pubmed du 25/01/23
1. Gunderson J, Worthley E, Byiers B, Symons F, Wolff J. Self and caregiver report measurement of sensory features in autism spectrum disorder: a systematic review of psychometric properties. J Neurodev Disord;2023 (Jan 25);15(1):5.
BACKGROUND: Unusual responses to sensory stimuli are considered a diagnostic symptom of autism spectrum disorder with mounting research efforts put towards understanding, characterizing, and treating such symptoms. METHODS: This paper examines self and caregiver report tools used to measure sensory features in ASD through a systematic review of the psychometric evidence for their use. A total of 31 empirical papers were reviewed across 20 assessment tools. Substantial differences were identified in the specific sensory features defined across assessment tools. Sensory assessment questionnaires were evaluated against quality psychometric evidence criteria to provide a use recommendation. RESULTS: Five assessments were identified to be « appropriate with conditions, » while no sensory assessment tools were identified to have sufficient quality psychometric evidence to provide a recommendation of « Appropriate » for measuring sensory features in ASD. CONCLUSION: Evidence from this review highlights potentially significant shortcomings among the current methods used to measure sensory features in ASD and suggests the need for more efforts in developing psychometrically sound sensory assessment tools for use in ASD populations.
Lien vers le texte intégral (Open Access ou abonnement)
2. Willemsen R, Kooy RF. Mouse models of fragile X-related disorders. Dis Model Mech;2023 (Feb 1);16(2)
The fragile X-related disorders are an important group of hereditary disorders that are caused by expanded CGG repeats in the 5′ untranslated region of the FMR1 gene or by mutations in the coding sequence of this gene. Two categories of pathological CGG repeats are associated with these disorders, full mutation alleles and shorter premutation alleles. Individuals with full mutation alleles develop fragile X syndrome, which causes autism and intellectual disability, whereas those with premutation alleles, which have shorter CGG expansions, can develop fragile X-associated tremor/ataxia syndrome, a progressive neurodegenerative disease. Thus, fragile X-related disorders can manifest as neurodegenerative or neurodevelopmental disorders, depending on the size of the repeat expansion. Here, we review mouse models of fragile X-related disorders and discuss how they have informed our understanding of neurodegenerative and neurodevelopmental disorders. We also assess the translational value of these models for developing rational targeted therapies for intellectual disability and autism disorders.
