Females and Autism

by

Agnieszka Rynkiewicz, Amandine Lassalle, Bryan King, Rachael Smith, Artur Mazur, Justyna Podgórska-Bednarz, Agnieszka Słopień, Jacek Tabarkiewicz

• LAST REVIEWED: 28 August 2018
• LAST MODIFIED: 28 August 2018
• DOI: 10.1093/obo/9780199791231-0209

Introduction

Females with autism are often undiagnosed, misdiagnosed, or receive a diagnosis of autism at a later age than males. This can result in adverse outcomes in their well-being, mental health, education, employment, and independence. Furthermore, the autism spectrum in females is associated with adverse outcomes after puberty, including anxiety, depression, high incidence of suicide, eating disorders, and high rates of other medical problems. The term “autism spectrum disorder” (ASD) and “autism spectrum condition” (ASC) and autism are used interchangeably, including in the citations of this article, and in the article itself. The term “autism spectrum condition” (ASC), coined by Simon Baron-Cohen, is used in the literature to respect both females and males on the autism spectrum who feel that the term “disorder” is stigmatizing, whereas ASC presents both the strengths and difficulties of individuals on the autism spectrum. Autism has traditionally been considered a male-dominated diagnosis, and its current features linked with descriptions in the major diagnostic classification systems are based primarily on males. While researchers continue to question the epidemiology, prevalence, and presentation of autism, there is an emerging awareness and growing clinical recognition that autism in females has a unique symptomatology and may, in fact, be more common in this population than previously acknowledged. Cultural and social aspects may also impact on the autistic characteristics presented by autistic females. Autism may also manifest itself differently, and more subtly, especially in individuals who are not recognized early in life or who do not have profound intellectual or communication difficulties. The current diagnostic assessments have mainly been developed for an autistic male population, and thus may lack the required sensitivity to identify autistic females. It is argued that these assessments may have an inhibitory potential in confirming the diagnosis of autism in females, as they do not reflect the unique presentation of autism in females, demonstrated by greater compensatory capacity and an ability to develop sophisticated methods of “camouflaging” and masquerading in order to blend in with neurotypical peers. Sex and gender stereotypes and differences in patterns of autistic behavior may contribute to females being overlooked in a diagnostic setting. Timely diagnosis and support, however, can reduce the difficulties that females with autism experience. Timely diagnosis can reduce abuse, exploitation, and certain co-occurring conditions, allowing us to better inform females’ needs in education, leisure, social relationships, and employment, so as to promote their well-being and independence.

General Overviews

Autism spectrum condition (ASC)—or autism spectrum disorder (ASD), or simply “autism,”—as described by Baron-Cohen 2015, is diagnosed more frequently in males than in females. Autism sex ratio varies from 4:1 to 2.0–2.6:1 and is influenced by a number of biases, as explored in Halladay, et al. 2015 and Rynkiewicz 2016. Most clinicians agree that there is a sex/gender effect in the prevalence and symptomatology of autism, as presented in Lai, et al. 2015, and that high-functioning ASC females can pretend not to show autism, a phenomenon called “camouflaging” (Rynkiewicz, et al. 2016). This phenomenon has been described in published autobiographies as well. Jacquemont, et al. 2014 hypothesized that females may require a greater assault at the genetic level in order to develop autism, which is referred to in the literature as the “female protective effect.” Nichols, et al. 2009 argues that females with autism hide complex social confusion and sensory struggles, and ASC females report them as exhausting and disorienting. Females with autism have a higher rate of comorbid conditions than males with autism, including depression, anxiety, and eating disorders, and they are often misdiagnosed, diagnosed late in life, or may never come to clinical attention at all (Rynkiewicz and Łucka 2015). Most diagnostic assessments are based on research with ASC males and are not sensitive enough to ASC females’ presentations, allowing females with autism to “slip through the diagnostic net” (Bargiela, et al. 2016; p. 3292). As a result, as Ormond, et al. 2018 argues, sex-specific diagnostic assessment tools may need to be considered. Females with autism are prone to abuse and sexual victimization, as explored in Bargiela, et al. 2016, and even those who are high-functioning need substantial support to become healthy and independent adults.

• Bargiela, Sarah, Robyn Steward, and William Mandy. “The Experiences of Late-Diagnosed Women with Autism Spectrum Conditions: An Investigation of the Female Autism Phenotype.” Journal of Autism and Developmental Disorders 46.10 (2016): 3281–3294.

  DOI: 10.1007/s10803-016-2872-8

  Fourteen late-diagnosed high-functioning young adult females with autism participated in this study. All had an official diagnosis of ASC made by a psychiatrist or clinical psychologist. Framework analysis was chosen for the research. The phenomenon of “camouflaging,” or “pretending to be normal,” was confirmed.

• Baron-Cohen, Simon. “ASD vs. ASC: Is One Small Letter Important?.” Paper presented at the 14th Annual International Meeting for Autism Research (IMFAR 2015). Salt Lake City, UT: International Society for Autism Research, 2015.

  The author argues that the term “condition” is more respectful and neutral than “disorder.” “Condition” represents “a state of being” or a different “cognitive style,” and is less stigmatizing than “disorder.” Autism is biomedical, entails disability and vulnerability, and in many cases requires services, but the scientific evidence shows difference, not dysfunction.

• Halladay, Alycia K., Somer Bishop, John N. Constantino, et al. “Sex and Gender Differences in Autism Spectrum Disorder: Summarizing Evidence Gaps and Identifying Emerging Areas of Priority.” Molecular Autism 6.36 (2015).

  DOI: 10.1186/s13229-015-0019-y

  This is the summary of the meeting organized by the Autism Speaks and the Autism Science Foundation with clinicians, researchers, parents, and individuals with autism to discuss priority topics like sex differences in autism, females with autism, and challenges for ASC females when they transition into adulthood. The summary provides the recommendations on directions of future research.

• Jacquemont, Sébastien, Bradley P. Coe, Micha Hersch, et al. “A Higher Mutational Burden in Females Supports a ‘Female Protective Model’ in Neurodevelopmental Disorders.” American Journal of Human Genetics 94.3 (2014): 415–425.

  DOI: 10.1016/j.ajhg.2014.02.001

  In this study the concept of a “female protective model” is addressed. The results of the study show convincing evidence that females have an increased etiological burden unlinked to rare deleterious variants on the X chromosome. A much more severe “genetic hit” is needed for autism to appear in females. As a result, more severe autism symptoms appear in these cases.

• Lai, Meng-Chuan, Michael V. Lombardo, Bonnie Auyeung, Bhismadev Chakrabarti, and Simon Baron-Cohen. “Sex/Gender Differences and Autism: Setting the Scene for Future Research.” Journal of the American Academy of Child and Adolescent Psychiatry 54.1 (2015): 11–24.

  DOI: 10.1016/j.jaac.2014.10.003

  A review of 329 selected articles was performed. The four-level framework was applied to summarize the findings. The articles were selected on the relevance to the topics of sex, gender, females, and autism. The review suggests topics of immediate importance in research where doubts and uncertainties exist.

• Nichols, Shana, Gina Marie Moravcik, and Samara Pulver Tetenbaum. Girls Growing Up on the Autism Spectrum: What Parents and Professionals Should Know about the Pre-teen and Teenage Years. London: Jessica Kingsley, 2009.

  This book presents many important issues on difficulties encountered by girls with ASC in different areas (e.g., personal hygiene, relationships, sex) and is related to their sensory sensitivity. The book presents strategies on how to cope with sensory problems and is valuable for both parents/guardians and practitioners.

• Ormond, Sarah, Charlotte Brownlow, Michelle Sarah Garnett, Agnieszka Rynkiewicz, and Tony Attwood. “Profiling Autism Symptomatology: An Exploration of the Q-ASC Parental Report Scale in Capturing Sex Differences in Autism.” Journal of Autism and Developmental Disorders 48.2 (2018): 389–403.

  DOI: 10.1007/s10803-017-3324-9

  In this study the Questionnaire for Autism Spectrum Conditions (Q-ASC) was used to identify gender-sensitive profiles of autism symptomatology. It explores the sensitivity and diversity of presentations of autism among female children and adolescents with no intellectual disability. The study provides empirical and preliminary evidence that ASC females have a greater level of observed characteristics associated with gendered behavior issues, sensory sensitivity, social masking, use of imagination, and imitation than ASC boys. Available online by subscription.

• Rynkiewicz, Agnieszka. “Autism Spectrum Disorders In Females: Sex/Gender Differences in Clinical Manifestation and Co-existing Psychopathology.” PhD diss., Gdańsk Medical University, 2016.

  A collection of research on females with autism. It presents clinical data and evidence that adolescent females with autism are at greater risk of developing anxiety, depression, and suicidal ideation, and that they undergo psychiatric hospitalization more than males with this condition. The evidence suggests that high-functioning ASC adolescent and young adult females present with more abnormalities in sensory profiles, and that diagnostic instruments like ADOS, ADOS-2, and SCQ are not sensitive enough to ASC females’ presentations.

• Rynkiewicz, Agnieszka, and Izabela Łucka. “Autism Spectrum Disorder (ASD) in Girls: Co-occurring Psychopathology; Sex Differences in Clinical Manifestation.” Psychiatria Polska (Online First, 27 September 2015).

  DOI: 10.12740/PP/OnlineFirst/58837

  The study shows that adolescent high-functioning females with autism are at risk of receiving a non-spectrum result in ADOS and ADOS-2 classification while their developmental history and clinical manifestation confirms ASC. The collected clinical data suggests that ASC females present with more abnormalities in sensory profiles than ASC males.

• Rynkiewicz, Agnieszka, Björn Schuller, Erik Marchi, et al. “An Investigation of the ‘Female Camouflage Effect’ in Autism Using a Computerized ADOS-2 and a Test of Sex/Gender Differences.” Molecular Autism 7 (2016): 10.

  DOI: 10.1186/s13229-016-0073-0

  This first-of-its-kind study presents a new technique during two demonstration activities of ADOS-2, Module 3, administered in Polish, and coded using Polish codes. The technique uses the EyesWeb software platform and the Kinect sensor, allowing automated coding of nonverbal modes of communication (gestures), and offers the possibility of objective evaluation of gestures, independent of human judgment. ASC females presented better on nonverbal (gestures) modes of communication than ASC boys.