Unlabelled: There is increased recognition that women and girls with autism spectrum disorders (ASD) are underserved by the clinical criteria and processes required to receive a diagnosis. This mixed-methods systematic review aimed to identify key barriers to obtaining an ASD diagnosis in girls and young women under 21 years. Six themes were identified that focused on perceived gendered symptoms, namely behavioural problems, social and communication abilities, language, relationships, additional diagnoses/difficulties and restricted and repetitive behaviours and interests. Five themes were identified as (parental) perceived barriers to diagnosis, namely compensatory behaviours, parental concerns, others' perceptions, lack of information/resources and clinician bias. This review highlights the importance of enhancing widespread understanding and recognition of ASD presentation in females across development. PROSPERO Centre for Reviews and Dissemination (ID 2018 CRD42018087235).
Supplementary Information: The online version of this article (10.1007/s40489-020-00225-8) contains supplementary material, which is available to authorized users.
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http://dx.doi.org/10.1007/s40489-020-00225-8 | DOI Listing |
Glob Ment Health (Camb)
December 2024
The Warren Alpert Medical School of Brown University, Providence, RI, USA.
This study analyzes 2022 data from SAMHSA's Mental Health Client-Level Data (MH-CLD) to investigate ADHD prevalence and comorbidity. The findings reveal that 10.70% of the 5,899,698 patients were diagnosed with ADHD, indicating a high demand for targeted resources.
View Article and Find Full Text PDFFront Hum Neurosci
December 2024
Department of Neuroscience, Erasmus Medical Center, Rotterdam, Netherlands.
Introduction: Global Visual Selective Attention (VSA) is the ability to integrate multiple visual elements of a scene to achieve visual overview. This is essential for navigating crowded environments and recognizing objects or faces. Clinical pediatric research on global VSA deficits primarily focuses on autism spectrum disorder (ASD).
View Article and Find Full Text PDFJ Appl Genet
January 2025
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Multiple sulfatase deficiency (MSD) is an ultra-rare lysosomal disease caused by defective activation of cellular sulfatases comprising clinical features of mucopolysaccharidoses, sphingolipidoses, and other sulfatase deficiencies. We present a case of an infant with feeding difficulties related to autism spectrum disorder (ASD) who was diagnosed at 10 months of age with MSD by next-generation sequencing (NGS). Biochemical results obtained in dried blood spot (DBS) samples were inconsistent and not suggesting MSD in the light of identified pathogenic SUMF1 variants.
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