Annual Research Review: The role of the environment in the developmental psychopathology of autism spectrum condition

Mandy, William; Lai, Meng‐Chuan

doi:10.1111/jcpp.12501

Cited by 216 publications

(161 citation statements)

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“…twin symptom concordance) and population-wide autism risk [24]. This review does not have the space to describe the many environmental factors thought to contribute to ASD, or how they may interact with (and be influenced by) genetic factors, but we direct interested readers to a recent review of the literature for more information [23].…”

Section: The Female Protective Effect: Genetic and Environmental Riskmentioning

confidence: 99%

“…Further research, meta-analysis, and the examination of a range of genetic and behavioural profiles are needed to identify how much influence genetic variation has on the diagnosis of males and females with ASD. Some environmental factors may also contribute to the female protective effect [23]. Inuterine exposure to SSRIs [34] and steroids including progesterone and testosterone [35] are associated with greater autism likelihood amongst male children than female.…”

Section: Female Protective Effectmentioning

confidence: 99%

“…Genetic risk factors for ASD are likely to interact with environmental risk factors, including pre-and post-natal factors such as maternal age, socioeconomic status, and in-vitro exposure to medications and toxins (22,23]. While many studies of these environmental factors are based on animal models or are underpowered to detect risk factors across entire populations [22], there is undoubtedly a substantial impact of the environment on both shared autism variance (e.g.…”

Section: The Female Protective Effect: Genetic and Environmental Riskmentioning

confidence: 99%

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Protective Effect or Missed Diagnosis? Females with Autism Spectrum Disorder

Hull

Mandy

2017

Future Neurol.

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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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Section: The Female Protective Effect: Genetic and Environmental Riskmentioning

confidence: 99%

Section: Female Protective Effectmentioning

confidence: 99%

Section: The Female Protective Effect: Genetic and Environmental Riskmentioning

confidence: 99%

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Protective Effect or Missed Diagnosis? Females with Autism Spectrum Disorder

Hull

Mandy

2017

Future Neurol.

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“…For example, ADHD defined as a trait, typically using total symptom scores, behaves dimensionally in terms of its relationship with adverse outcomes 37 -there is no clear-cut threshold beyond which adverse outcomes emerge. Also, the same genetic and early environmental risk factors that are associated with a diagnosis of ADHD or ASD predict trait levels in the general population [38][39][40][41][42] . However categorical conceptualisation can be helpful for some purposes 4 ; for example when dichotomous and potentially risky clinical decisions, such as whether to prescribe medication for a child or not, have to be made.…”

Section: Neurodevelopmental Disorders Conceptualised As Traits Evidenmentioning

confidence: 99%

Neurodevelopmental disorders

Thapar

Pine

Leckman

et al. 2015

Rutter's Child and Adolescent Psychiatry

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“…Mais adiante, os escritos de Bruno Bettelheim, encetados no livro The Empty Fortress: Infantile Autism and the Birth of Self, influenciaram um volumoso grupo de profissionais com a ideia de que o autismo seria causado por um distúrbio da parentalidade, sobretudo materna. Bettelheim não deixa claro no livro se ele está discutindo o autismo infantil (síndrome de Kanner) ou várias formas de esquizofrenia infantil ou atípicas, mas a ideia da "mãe geladeira" acabou por se tornar uma narrativa frequentemente presente no imaginário teórico sobre o assunto, mesmo que críticas contundentes a esta hipótese ainda recentemente tenham sido feitas 2,3 . Já no final do século XX, uma grande celeuma ocorreu após um comentário na discussão de um artigo publicado no Lancet, no qual os autores sugeriam uma associação entre a exposição à vacina tríplice viral e a emergência de casos de autismo 4 .…”

Section: Introductionunclassified

Antidepressivos, depressão na gravidez e autismo: qual é a real associação?

Cantilino

Rennó

Ribeiro

et al. 2017

Debates em Psiquiatria

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ResumoNo início dos anos 2010, pesquisadores levantaram a suspeita de que a exposição pré-natal a antidepressivos poderia contribuir para o aumento do risco de transtornos do espectro autista (TEA). Estudos de caso-controle reafirmaram esta ideia, enquanto que os estudos de coorte mostraram resultados inconsistentes. Os pesquisadores que utilizaram técnicas para controle de variáveis confundidoras, como idade materna, gravidade da depressão, tabagismo, consumo de álcool, obesidade, entre outras, não encontraram associação significativa entre antidepressivos na gravidez e TEA. O grupo de mulheres que tomam medicação é diferente do grupo daquelas deprimidas que não tomam, e talvez estes fatores expliquem as diferenças nas taxas de autismo encontradas na prole. Além disso, alguns estudos em famílias mostram taxas aumentadas de transtorno do humor nos pais de crianças com autismo, sendo também possível que haja uma sobreposição de fatores genéticos entre transtornos de humor e TEA, o que leva a um outro viés nas pesquisas sobre este assunto.Palavras chave: Transtornos do espectro autista, autismo, depressão, antidepressivos, gravidez. AbstractIn the early 2010s, researchers raised a suspicion that prenatal exposure to antidepressant use could contribute to an increased risk of autism spectrum disorders (ASD). Case-control studies have corroborated that idea, whereas cohort studies have shown inconsistent results. Researchers who used techniques to control for confounding variables, such as maternal age, depression severity, smoking, alcohol consumption, and obesity, among others, found no significant association between ANTIDEPRESSIVOS, DEPRESSÃO NA GRAVIDEZ E AUTISMO: QUAL É A REAL ASSOCIAÇÃO? ANTIDEPRESSANTS, DEPRESSION IN PREGNANCY AND AUTISM: WHAT IS THE REAL ASSOCIATION?antidepressant use during pregnancy and ASD. The group of women who take medication is different from the group of depressed women that do not take the drugs, and it is possible that these factors explain the different rates of autism found in their offspring. In addition, some family studies have shown increased rates of mood disorder in the parents of children with autism, also possibly suggesting that there is an overlap of genetic factors between mood disorders and ASD, which leads to another bias in research on this subject.Keywords: Autism spectrum disorders, autism, depression, antidepressants, pregnancy. IntroduçãoEm 1943, o psiquiatra austríaco Leo Kanner publicou "Autistic disturbances of affective contact" na revista Nervous Children. Neste artigo, relatou os casos de 12 crianças que tinham em comum "um isolamento intenso desde o início da vida e um gosto obsessivo pela rotina/ mesmice". Ele tomou emprestado o termo "autismo" de Bleuler, que o havia utilizado para descrever o ensimesmamento e a introversão da esquizofrenia em adultos. Mas Kanner não considerou o autismo infantil como uma forma precoce ou prodrômica da esquizofrenia. O quadro psicopatológico não era idêntico, e ao contrário da esquizofrenia, os pacientes de Kanner pare...

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Annual Research Review: The role of the environment in the developmental psychopathology of autism spectrum condition

Cited by 216 publications

References 207 publications

Protective Effect or Missed Diagnosis? Females with Autism Spectrum Disorder

Protective Effect or Missed Diagnosis? Females with Autism Spectrum Disorder

Neurodevelopmental disorders

Antidepressivos, depressão na gravidez e autismo: qual é a real associação?

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