The Neurodiversity Approach(es): What Are They and What Do They Mean for Researchers?

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Abstract

This paper presents the concepts of “neurodiversity” and the “neurodiversity approaches” towards disability and discusses how confusion regarding the meaning of these concepts exacerbates debate and conflict surrounding the neurodiversity approaches. For example, some claim the neurodiversity approaches focus solely on society and deny contributions of individual characteristics to disability (a controversial stance), whereas this paper joins other literature in acknowledging the contributions of both individual and society to disability. This paper also addresses other controversies related to neurodiversity, such as uncertainty regarding the scope of the approaches – to whom do they apply? – and their implications for diagnostic categories. Finally, it provides recommendations for developmental researchers who wish to carry out neurodiversity-aligned research: scholars are urged to study both individual neurodivergent people and the contexts around them; to consider both strengths and weaknesses; to recognize their own biases; and to listen to and learn from neurodivergent people.

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The contribution of de novo coding mutations to autism spectrum disorder.

Ivan Iossifov, Brian J. O’Roak, Stephan Sanders … (2014)

Whole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we apply it to more than 2,500 simplex families, each having a child with an autistic spectrum disorder. By comparing affected to unaffected siblings, we show that 13% of de novo missense mutations and 43% of de novo likely gene-disrupting (LGD) mutations contribute to 12% and 9% of diagnoses, respectively. Including copy number variants, coding de novo mutations contribute to about 30% of all simplex and 45% of female diagnoses. Almost all LGD mutations occur opposite wild-type alleles. LGD targets in affected females significantly overlap the targets in males of lower intelligence quotient (IQ), but neither overlaps significantly with targets in males of higher IQ. We estimate that LGD mutation in about 400 genes can contribute to the joint class of affected females and males of lower IQ, with an overlapping and similar number of genes vulnerable to contributory missense mutation. LGD targets in the joint class overlap with published targets for intellectual disability and schizophrenia, and are enriched for chromatin modifiers, FMRP-associated genes and embryonically expressed genes. Most of the significance for the latter comes from affected females.

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Which terms should be used to describe autism? Perspectives from the UK autism community.

Lorcan Kenny, Caroline Hattersley, Bonnie Molins … (2016)

Recent public discussions suggest that there is much disagreement about the way autism is and should be described. This study sought to elicit the views and preferences of UK autism community members - autistic people, parents and their broader support network - about the terms they use to describe autism. In all, 3470 UK residents responded to an online survey on their preferred ways of describing autism and their rationale for such preferences. The results clearly show that people use many terms to describe autism. The most highly endorsed terms were 'autism' and 'on the autism spectrum', and to a lesser extent, 'autism spectrum disorder', for which there was consensus across community groups. The groups disagreed, however, on the use of several terms. The term 'autistic' was endorsed by a large percentage of autistic adults, family members/friends and parents but by considerably fewer professionals; 'person with autism' was endorsed by almost half of professionals but by fewer autistic adults and parents. Qualitative analysis of an open-ended question revealed the reasons underlying respondents' preferences. These findings demonstrate that there is no single way of describing autism that is universally accepted and preferred by the UK's autism community and that some disagreements appear deeply entrenched.