The prevalence of Autism Spectrum Disorder (ASD) is four times higher in males than females; however, females are significantly more likely to go undiagnosed due to the existence of a "female autistic phenotype", a manifestation unique to females that conflicts with conventional, masculine conceptualizations of ASD. Furthermore, subthreshold autistic traits, which exert a significantly negative impact on quality of life and represent a vulnerability factor for the development of other psychopathological conditions, may remain even more under-recognized. Subsequently, many women with ASD may never receive a diagnosis or any resulting care, with serious consequences for their health. We aimed to describe two brief cases in order to confirm the diagnostic difficulties that ASD female undergo during their clinical evaluation and the possible alternative phenotype that they can manifest. We reported the cases of two young women on the autism spectrum that came to clinical attention only after the development of severe symptomatology attributed to other mental disorders, overlooking the presence of underlying autism spectrum features and a brief résumé of the literature on this topic. These cases confirm the need for a timely and proper identification of females on the autism spectrum in order to prevent complications and improve the outcome. Research on gender differences could lead to a reexamination of the sex ratio in the prevalence of ASD and provide a better understanding of several psychiatric conditions that are frequently diagnosed in women, supporting the neurodevelopmental approach to psychopathology.
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http://dx.doi.org/10.3390/brainsci14010037 | DOI Listing |
J Mol Neurosci
January 2025
Department II of Acupuncture and Moxibustion, Dongzhimen Hospital Beijing University of Chinese Medicine, No. 116, Cuiping West Road, Tongzhou District, Beijing, 101121, China.
The purpose of this study was to investigate the expression of miR-499a-5p in children with autism spectrum disorders (ASD) and its value in early diagnosis of ASD. This is a retrospective case-control study that included 40 children with ASD as a case group and 43 healthy children as a control group. Magnetic resonance imaging (MRI) was performed on all subjects, and the children were scored with childhood autism rating scale (CARS) and autism behavior checklist (ABC).
View Article and Find Full Text PDFPhys Eng Sci Med
January 2025
Institute of Digital Technologies for Personalized Healthcare (MeDiTech), University of Applied Sciences and Arts of Southern Switzerland, Via Pobiette, Manno, 6928, Manno, Switzerland.
The analysis of repetitive hand movements and behavioral transition patterns holds particular significance in detecting atypical behaviors in early child development. Early recognition of these behaviors holds immense promise for timely interventions, which can profoundly impact a child's well-being and future prospects. However, the scarcity of specialized medical professionals and limited facilities has made detecting these behaviors and unique patterns challenging using traditional manual methods.
View Article and Find Full Text PDFFront Psychiatry
January 2025
Department of Psychiatry, Nara Medical University School of Medicine, Kashihara, Japan.
Aim: Functional neuroimaging studies have suggested that prefrontal cortex dysfunction occurs in individuals with autism spectrum disorder (ASD). Near-infrared spectroscopy (NIRS) is a noninvasive optical tool used to investigate oxygenation and hemodynamic responses in the cerebral cortex by measuring changes in oxygenated hemoglobin. Previous studies using NIRS have suggested that male children with ASD exhibit reduced hemodynamic responses in the dorsolateral prefrontal cortex; however, only a few studies examined this response in adults with ASD.
View Article and Find Full Text PDFFront Psychiatry
January 2025
School of Education Science, Jiangsu Normal University, Xuzhou, China.
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by significant impairments in social interaction, often manifested in facial recognition deficits. These deficits hinder individuals with ASD from recognizing facial identities and interpreting emotions, further complicating social communication. This review explores the neural mechanisms underlying these deficits, focusing on both functional anomalies and anatomical differences in key brain regions such as the fusiform gyrus (FG), amygdala, superior temporal sulcus (STS), and prefrontal cortex (PFC).
View Article and Find Full Text PDFFront Pediatr
January 2025
IRCCS Fondazione Don Carlo Gnocchi, Milano, Italy.
Background: It has been widely demonstrated that siblings of children with autism spectrum disorder (ASD) have an increased risk of abnormal developmental trajectories. In response to this, early recognition protocols have been developed worldwide, aiming to promote early interventions that can positively impact the neurodevelopment of this population. This paper presents the protocol of a controlled trial: ERI-SIBS (Early Recognition and Intervention in SIBlingS at High Risk for Neurodevelopment Disorders) is an innovative and ecological early recognition and intervention program designed specifically for siblings of children with ASD.
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