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What is the most appropriate therapy for women with Autism Spectrum Disorder (ASD)?

Neurodevelopmental disorders group and Laboratori Clínic - Drs Esteba, S., Palacín, A., Ribas, N., Novell, R., Mademont, I. and Obon, M.
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About the project

Women with autism spectrum disorder, depression and high rates of suicide: need for a paradigm shift


Summary of the idea:

Women with autism spectrum disorder (ASD) are misdiagnosed. There is a high association between women with ASD, depression and risk of suicide. Erroneous diagnoses imply poor therapeutic decisions.

Although the related genes are being studied, these women are not being studied. As a specialised team, we believe that a paradigm shift is needed in their care and we propose a new model that includes comprehensive care for both the woman and her family.


Objectives, impact and proposed solution:

Women with ASD are the great unknown and forgotten. The term "camouflaged" is used in their attempt to minimise their difficulties. There is a high prevalence of depression and risk of suicide. It has been shown that genetic segregation is important in ASD. The genetic architecture is complex, with many common genetic variants with a low effect per se and rare, highly penetrant variants with a strong effect. New technologies (exome sequencing) are an emerging tool of great efficiency in the diagnosis of ASD, as well as those that are well known and those that have not yet been associated.

This study is not usually carried out in women. The clinical ignorance about the phenotypic expression (phenotype that is confused with other disorders) and depression goes unnoticed, in most cases for the rest of their lives, and the information associated with the phenotype itself is not taken into account. Recognising and offering multidisciplinary support, both to the woman and her family, is a pending task.