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Summary

Autism often goes unrecognized and undiagnosed in girls. In this episode we explore the diagnostic challenges, common misdiagnoses, and possible reasons why girls are underdiagnosed. Girls Can Be Autistic Too

Roadblocks and detours on pathways to a clinical diagnosis of autism for girls and women: A qualitative secondary analysis

Yani Hamdani, Caroline Kassee, Meaghan Walker, Yona Lunsky, Brenda Gladstone, Amanda Sawyer, Stephanie H Ameis, Pushpal Desarkar, Peter Szatmari, and Meng-Chuan Lai

Background: Autism is not always considered for girls and women until later along their clinical diagnostic pathways. Misdiagnosis or late diagnosis can pose significant disadvantages with respect to accessing timely health and autism- related services and supports. Understanding what contributes to roadblocks and detours along clinical pathways to an autism diagnosis can shed light on missed opportunities for earlier recognition.
Objective: Our objective was to examine what contributed to roadblocks, detours, and missed opportunities for earlier recognition and clinical diagnosis of autism for girls and women.
Design: We conducted a qualitative secondary analysis using data from a Canadian primary study that examined the health and healthcare experiences of autistic girls and women through interviews and focus groups.
Methods: Transcript data of 22 girls and women clinically diagnosed with autism and 15 parents were analysed, drawing on reflexive thematic analysis procedures. Techniques included coding data both inductively based on descriptions of roadblocks and detours and deductively based on conceptualizations of sex and gender. Patterns of ideas were categorized into themes and the ‘story’ of each theme was refined through writing and discussing analytic memos, reflecting on sex and gender assumptions, and creating a visual map of clinical pathways.
Results: Contributing factors to roadblocks, detours, and missed opportunities for earlier recognition and diagnosis were categorized as follows: (1) age of pre-diagnosis ‘red flags’ and ‘signals’; (2) ‘non-autism’ mental health diagnoses first; (3) narrow understandings of autism based on male stereotypes; and (4) unavailable and unaffordable diagnostic services. Conclusion: Professionals providing developmental, mental health, educational, and/or employment supports can be more attuned to nuanced autism presentations. Research in collaboration with autistic girls and women and their childhood caregivers can help to identify examples of nuanced autistic features and how context plays a role in how these are experienced and navigated. access article This qualitative study identified themes accross Canadian girls seeking an autism diagnosis. They found that many girls were first misdiagnosed with mental health diagnoses, and that they often faced narrow understandings and stereotypes based on the assumption that autism is only found in men.

Autism Spectrum Disorder in Females and Borderline Personality Disorder: The Diagnostic Challenge

Sofia Pires, Pedro Felgueiras, Sandra Borges, and Joana Jorge

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by pervasive deficits in communication and social interaction and patterns of repetitive, restrictive interests and/or stereotyped behaviors. Female sex/gender is not represented in the current conceptualization of ASD, and there is emerging evidence of a female phenotype. The etiology of ASD and borderline personality disorder (BPD) is not fully understood. Clinical observations suggest that ASD and BPD can overlap in clinical presentation and diagnostic characteristics, especially in female ASD cases.
We report two clinical cases of two adolescent girls presenting overlap symptoms between ASD and BPD, raising questions about the female ASD phenotype and the potential misdiagnosis of ASD characteristics with BPD, as well as its impact on diagnosis and management.
Diagnostic differentiation is crucial for targeted therapeutic interventions (psychopharmacological and psychosocial). Further studies are needed to enlighten the clinical similarities and diagnostic overlap between ASD females and BPD. access article This article focuses on the misdiagnosis of BPD in autistic girls. Female ASD often presents with overlapping symptoms/phenotypes to BPD.

Linguistic markers of autism in girls: evidence of a “blended phenotype” during storytelling

Jaclin Boorse, Meredith Cola, Samantha Plate, Lisa Yankowitz, Juhi Pandey, Robert T. Schultz, and Julia Parish-Morris

Background: Narrative abilities are linked to social impairment in autism spectrum disorder (ASD), such that reductions in words about cognitive processes (e.g., think, know) are thought to reflect underlying deficits in social cognition, including Theory of Mind. However, research suggests that typically developing (TD) boys and girls tell narratives in sex-specific ways, including differential reliance on cognitive process words. Given that most studies of narration in ASD have been conducted in predominantly male samples, it is possible that prior results showing reduced cognitive processing language in ASD may not generalize to autistic girls. To answer this question, we measured the relative frequency of two kinds of words in stories told by autistic girls and boys: nouns (words that indicate object-oriented storytelling) and cognitive process words (words like think and know that indicate mentalizing or attention to other peoples’ internal states).
Methods: One hundred two verbally fluent school-aged children [girls with ASD (N = 21) and TD (N = 19), and boys with ASD (N = 41) and TD (N = 21)] were matched on age, IQ, and maternal education. Children told a story from a sequence of pictures, and word frequencies (nouns, cognitive process words) were compared.
Results: Autistic children of both sexes consistently produced a greater number of nouns than TD controls, indicating object-focused storytelling. There were no sex differences in cognitive process word use in the TD group, but autistic girls produced significantly more cognitive process words than autistic boys, despite comparable autism symptom severity. Thus, autistic girls showed a unique narrative profile that overlapped with autistic boys and typical girls/boys. Noun use correlated significantly with parent reports of social symptom severity in all groups, but cognitive process word use correlated with social ability in boys only.
Conclusion: This study extends prior research on autistic children’s storytelling by measuring sex differences in the narratives of a relatively large, well-matched sample of children with and without ASD. Importantly, prior research showing that autistic children use fewer cognitive process words is true for boys only, while object-focused language is a sex-neutral linguistic marker of ASD. These findings suggest that sex-sensitive screening and diagnostic methods—preferably using objective metrics like natural language processing—may be helpful for identifying autistic girls, and could guide the development of future personalized treatment strategies. access article This article demonstrates one way that diagnostic criteria are focused on the way autism presents in boys, often making it harder to diagnose in girls. It also proposes a change to diagnostic practices with this knowledge in mind.

Engendering misunderstanding: autism and borderline personality disorder

Jay Watts

Objective and Method: Female autism can be misdiagnosed as borderline personality disorder, leading to mistreatment and unnecessary harm. By educating clinicians on how female autism can mimic borderline personality disorder, we can increase the accuracy and effectiveness of diagnosis, ultimately improving patient outcomes.
Result: There is a common myth that clinicians can easily recognise borderline personality disorder, leading to a shortcut in the diagnostic process and the potential for missing signs of autism in early childhood.
Conclusion: Clinicians must be encouraged to pursue thorough differential diagnoses, especially for women and transgender individuals who experience emotional lability with self-harm.
KEY POINTS

Autism is underdiagnosed in girls, women, and transgender individuals due both to diagnostic bias, and the quieter, less visible signs and symptoms of female autism.
As females are so adept at camouflaging difference, distress generally only becomes manifest during mid childhood and adolescence, when mental illness gets misidentified as primary cause.
Early mood difficulties often transform into more serious distress with emotional lability and self-harm. This can get misrecognised as borderline personality disorder, causing preventable harm.
Borderline personality disorder is something that clinicians often feel they can recognise immediately, increasing the need to consciously think about differential diagnoses especially when presented with females who self-injure.

access article This article is further reading on BPD and autism in girls

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