What misdiagnoses do women with autism spectrum disorder receive in the DSM-5?

Abstract

Recently, increasing literature is focusing on sex differences in the manifestations of autism spectrum disorder (ASD), highlighting the presence of several possible female-specific features of this condition. 1 Some authors also pointed out that ASD diagnostic criteria would be tailored on the typical male presentations of the disorder, leading to an under-recognition of ASD among females. Subsequently ASD females, in particular those without language or intellectual impairment, would likely receive other kinds of diagnoses, with a consequent negative impact on the course of the disease and on the treatment outcome. One of the first line of investigations in this field focused on anorexia nervosa (AN). Intriguingly, AN shows an opposite gender ratio when compared to ASD, featuring a strikingly higher prevalence among females but also a familiar aggregation with ASD. AN patients were also reported to share with ASD the presence of social difficulties, lack of socioemotional reciprocity, and an altered theory of mind. Several epidemiological studies, including longitudinal ones, highlighted significant overlaps between AN and ASD diagnoses, while more recently the presence of significant autistic traits was reported also in other feeding and eating disorders (FED), such as bulimia nervosa or the emerging condition of orthorexia nervosa. These findings progressively provided support to the possibility of a reconceptualization of AN as a female phenotype of ASD, and, in parallel, increased the interest in investigating other sex-specific manifestations of the autism spectrum. Several authors reported possible features of female ASD phenotypes, suggesting that ASD females would focus on different kinds of interests with respect to males, including fictions, celebrities, or fashion. In addition, ASD females would often show a milder impairment in socioemotional reciprocity and would be more oriented toward interacting with others, usually adopting camouflaging behaviors in order to cope with social interactions. ASD females would be more aware of their social difficulties and the need of being, or at least appearing to be, socially integrated: however, the continuous use of camouflaging strategies would result in greater levels of social anxiety, distress, and depression, leading to live every relational situation as a performance. 2 Noticeably, social anxiety disorder (SAD) is another condition which was described as more common among females and might be considered as one of the possible diagnoses that ASD females could receive: among females without language or intellectual impairment, social anxiety symptoms, together with the eventual use of camouflaging strategies, may mask autistic-like social difficulties as well as the autistic-like tendency toward focusing on lonely activities and interests. Further support to this hypothesis may come from findings that highlighted social brain alterations and impaired theory of mind networks among patients with SAD. It should be noted that SAD itself was reported to be under-diagnosed and often confused with nonpathological shyness, and this fact may have contributed to further preventing women in the autism spectrum from reaching clinical attention. ED and SAD may be not the only diagnoses, which females with ASD are likely to receive. Subjects with borderline personality disorder (BPD), a condition mostly diagnosed among females, may show traits that are also typical of ASD, such as reduced empathy and socialemotional reciprocity, difficulties in regulating emotions, altered reactivity and reactions to stimuli or outbursts of anger, increased self-injuring and/or suicidal ideation or behaviors. An increased prevalence of ASD or subthreshold autistic traits was reported among patients with BPD, while, in turn, ASD patients show a greater frequency of BPD. BPD patients are known to usually report a history of traumatic events, while emerging evidence is suggesting that ASD, or also subthreshold autistic traits, could be considered as a vulnerability factor toward developing trauma and stress-related conditions. It should be noted that, according to the complex Post-traumatic stress disorder (PTSD) (cPTSD) model, subjects with increased vulnerability may develop a peculiar form of PTSD after traumatic events of milder intensity with respect to those described in DSM-5 criterion A for PTSD diagnosis, in particular, if events were repeated or prolonged in time, such as in the case of interpersonal traumatic events. cPTSD features a chronic course, dissociative symptoms and negative alterations in cognition and mood, emotional liability, maladaptive behaviors, instability in self-perception, and interpersonal relationships. The similarities

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