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Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.
Osteoporos Int
January 2025
Hospital del Mar Research Institute, Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERFES), Barcelona, Spain.
A 29-year-old Spanish Caucasian man, without relevant family history, was attended in our unit due to an undiagnosed skeletal dysplasia associated with low bone mass and several fragility fractures throughout his childhood and adolescence. DXA exams throughout his life showed very low BMD values; currently, his spinal and femoral neck T-scores were - 4.3 and - 3.
View Article and Find Full Text PDFImpact of a Structured Social Skills Training Program on Adolescents and Young Adults with Level 1 Autism.
Pediatr Rep
January 2025
Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona, 37126 Verona, Italy.
Background/objectives: Level 1 autism spectrum disorder (ASD) is a neurodevelopmental condition characterised by challenges in social and communication skills. Despite these difficulties, individuals with level 1 ASD often exhibit average intelligence and typical language development. Improving socialisation skills in this population requires tailored approaches that address their specific needs and include targeted strategies.
View Article and Find Full Text PDFAutistic Sensory Traits and Psychological Distress: Mediating Role of Worry and Intolerance of Uncertainty.
Brain Sci
October 2024
Department of Methodology of Behavioral Sciences, Faculty of Psychology, National University for Distance Education (UNED), 28040 Madrid, Spain.
Background/objectives: Autistic adults exhibit core and comorbid features that can have an impact on their daily functioning and lead to considerable psychological distress. Significant and consistent associations have been identified between autism characteristics-restricted repetitive behaviors and sensory features-and high levels of stress and anxiety. For a better understanding of the issue, it is necessary to consider the cognitive aspects that can help explain variations in stress and anxiety levels among adults with autism.
View Article and Find Full Text PDFAssessing neuropsychological profiles in adolescent females with suspected autism spectrum disorder: a multiple case study.
Appl Neuropsychol Child
November 2024
School of Psychology, University of La Laguna, La Laguna, Spain.
This study evaluates the neuropsychological profiles of three adolescent females with suspected Autism Spectrum Disorder (ASD). The study was conducted at My Blue Side, a support organization in Southern Tenerife. The research included a detailed assessment using standardized neuropsychological tests to identify the neuropsychological characteristics associated with ASD in adolescent females.
View Article and Find Full Text PDFAutism Spectrum Disorder Pathogenesis-A Cross-Sectional Literature Review Emphasizing Molecular Aspects.
Int J Mol Sci
October 2024
Institute of Medical Sciences, Jan Kochanowski University, Al. IX Wiekow Kielc 19A, 25-516 Kielce, Poland.
The etiology of autism spectrum disorder (ASD) has not yet been completely elucidated. Through time, multiple attempts have been made to uncover the causes of ASD. Different theories have been proposed, such as being caused by alterations in the gut-brain axis with an emphasis on gut dysbiosis, post-vaccine complications, and genetic or even autoimmune causes.
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