Carpita Barbara, Nardi Benedetta, Pronestì Cristiana, Parri Francesca, Giovannoni Federico, Cremone Ivan Mirko, Pini Stefano, Dell'Osso Liliana
Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
Brain Sci. 2023 Dec 30;14(1):37. doi: 10.3390/brainsci14010037.
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.
自闭症谱系障碍（ASD）在男性中的患病率比女性高四倍；然而，由于存在“女性自闭症表型”，女性未被诊断出来的可能性要大得多。“女性自闭症表型”是女性特有的一种表现，与传统的、男性化的ASD概念相冲突。此外，阈下自闭症特征对生活质量有显著负面影响，是其他精神病理状况发展的一个易患因素，可能更未得到充分认识。随后，许多患有ASD的女性可能永远无法得到诊断或任何相应的治疗，这对她们的健康会造成严重后果。我们旨在描述两个简短案例，以证实患有ASD的女性在临床评估过程中所经历的诊断困难以及她们可能表现出的替代表型。我们报告了两名自闭症谱系年轻女性的案例，她们仅在出现归因于其他精神障碍的严重症状后才引起临床关注，而忽视了潜在的自闭症谱系特征以及关于该主题的文献简述。这些案例证实了及时、正确识别自闭症谱系女性的必要性，以便预防并发症并改善预后。对性别差异的研究可能会促使重新审视ASD患病率中的性别比例，并更好地理解女性中经常被诊断出的几种精神疾病，支持精神病理学的神经发育方法。
