Gender ratio in a clinical population sample, age of diagnosis and duration of assessment in children and adults with autism spectrum disorder

Rutherford, Marion; McKenzie, Karen; Johnson, Tess; Catchpole, Ciara; O’Hare, Anne; McClure, Iain; Forsyth, Kirsty; McCartney, Deborah L.; Murray, Aja Louise

doi:10.1177/1362361315617879

Cited by 135 publications

(99 citation statements)

References 27 publications

(47 reference statements)

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“…First, they likely help explain the fact that autistic females receive their diagnosis later on average than autistic males, and are more likely to reach adulthood without appropriate understanding and support (Bargiela et al., ; Giarelli et al., ). They also fit with the observation that the male‐to‐female ratio is lower in adult and adolescent autism clinics (~2‐to‐1) compared to child ones (~6‐to‐1) (Rutherford et al., ). It is important that educational and clinical services are responsive to the fact that some autistic females may first present in adolescence, after the age at which most autism cases are identified, without an extensive history of obvious childhood autistic difficulties.…”

Section: Discussionsupporting

confidence: 80%

The development of autistic social traits across childhood and adolescence in males and females

Mandy¹,

Pellicano

Pourcain

et al. 2018

Child Psychology Psychiatry

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Section: Discussionsupporting

confidence: 80%

The development of autistic social traits across childhood and adolescence in males and females

Mandy¹,

Pellicano

Pourcain

et al. 2018

Child Psychology Psychiatry

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“…Diagnosis with a co-occurring disorder can lead to under-diagnosis of ASD in females (see [17] for review). Not only are fewer girls diagnosed with autism, but they are diagnosed later than males on average [174,175]. The reason for this is contentious.…”

Section: Are Sex Differences In Autism Overstated?: Possible Underdiamentioning

confidence: 99%

Sex Differences in Autism Spectrum Disorder: a Review

Ferri

Brodkin

2018

Curr Psychiatry Rep

237

155

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Recent work on the biological basis of the male preponderance of autism and other neurodevelopmental disorders includes discussion of a higher genetic burden in females and sex-specific gene mutations or epigenetic changes that differentially confer risk to males or protection to females. Other mechanisms discussed are sex chromosome and sex hormone involvement. Specifically, fetal testosterone is involved in many aspects of development and may interact with neurotransmitter, neuropeptide, or immune pathways to contribute to male vulnerability. Finally, the possibilities of female underdiagnosis and a multi-hit hypothesis are discussed. This review highlights current theories of male bias in developmental disorders. Topics include environmental, genetic, and epigenetic mechanisms; theories of sex chromosomes, hormones, neuroendocrine, and immune function; underdiagnosis of females; and a multi-hit hypothesis.

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“…Autistic girls and adolescents may therefore miss out on official diagnosis for years due to lack of awareness of their difficulties from others around them. It may however be difficult to maintain this camouflaging as girls get older, as evidenced by reduced gender ratios in clinics assessing adults in comparison to children or adolescents [69] -females may be more easily identified as they get older and their camouflaging strategies fail.…”

Section: Missing Women: Co-occurring Conditions and Environmental Fitmentioning

confidence: 99%

Protective effect or missed diagnosis? Females with autism spectrum disorder

Hull

Mandy

2017

Future Neurology

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Autism Spectrum Disorder (ASD) has historically been diagnosed more frequently in males than females. One explanation for this is the 'female protective effect': that there is something inherent in being female that makes girls and women less susceptible to ASD.Another possibility is that ASD is under-diagnosed in girls and women, due to the existence of a 'female autism phenotype', which is not well captured by current, male-biased diagnostic criteria. To evaluate the 'female protective effect' and 'female autism phenotype' hypotheses, this narrative review describes recent developments exploring the genetic underpinning and behavioural expression of ASD in females. We then look at ways to better identify females with ASD who may be missed under the current diagnostic criteria. KeywordsAutism, Autism Spectrum Disorders, Gender Differences, Sex Differences, Genetics, Diagnosis, Person-Environment Fit IntroductionAutism Spectrum Disorder (ASD) is a group of neurodevelopmental conditions characterised by deficits in social communication and reciprocity, and by restricted and repetitive interests and behaviours 1 . ASD is the current term used to integrate the previously separate diagnostic categories of autistic disorder, Asperger's disorder, childhood disintegrative disorder and pervasive developmental disorder -not otherwise specified (aka 'atypical autism' [2]). ASD is a lifelong condition that is present from birth. Although adult diagnosis is possible, symptoms must be reported as present from early developmental stages in order for the 1 In line with preferences from a majority of the autism community [1], we use identity-first language (e.g. 'autistic person') to refer to individuals with an ASD throughout this paper, while recognising that others might prefer person-first language (e.g. 'person with autism'). Gender differences in diagnosisASD affects approximately one to two per cent of the population [3,4], and is much more likely to be diagnosed in males than in females. Gender ratios in diagnosis vary depending on the country, cohort, and characteristics of those included, but average ratios are reported at around four males for every one female [3][4][5]. However, when looking at those individuals with intellectual disability, the male-to-female ratio narrows significantly to around two-toone [6]. In addition, population-based studies, which screen all participants in order to identify cases regardless of whether they have already been diagnosed by local services, suggest that the male-to-female ratio is closer to 3:1 [7,8]. This is in contrast to the average of around 4-5:1 generally reported in studies based on clinically-diagnosed cases [9]. The fact that a lower proportion of females are found in clinical samples than in community-based, epidemiological samples suggests that there is a bias against autistic girls and women coming to clinical attention. This bias may have existed from the very first conceptions of ASD; only 3 of 11 children in Kanner's original cases were female, and no gi...

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Gender ratio in a clinical population sample, age of diagnosis and duration of assessment in children and adults with autism spectrum disorder

Cited by 135 publications

References 27 publications

The development of autistic social traits across childhood and adolescence in males and females

The development of autistic social traits across childhood and adolescence in males and females

Sex Differences in Autism Spectrum Disorder: a Review

Protective effect or missed diagnosis? Females with autism spectrum disorder

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