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Autism and genetic disorders

Geoff Ferguson - October 6th 2015

The cause or causes of an Autism Spectrum Disorder (ASD) are still unknown, although it does seem that the condition is the result of both genetic and environmental factors. In fact it is not even clear that autism represents just one unique entity, but rather is a condition that may be associated with several underlying issues. One indicator of the latter is the way in which ASD seems to be more common when found alongside various genetic syndromes when compared to the general population.

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A recent study, reported in the Lancet*, conducted a meta-analysis of English-language papers published up until 2014 that contained keywords associated with ASD and keywords associated with genetic or metabolic syndromes. The study analysed 168 papers that met the study criteria and determined prevalence estimates of ASD for various reported syndromes. The results included prevalence rates of 61% for Rett’s syndrome (females only), 54% for Cohen’s syndrome, 43% for Cornelia de Lange syndrome, 36% for tuberous sclerosis complex, 34% for Angelman’s syndrome, 30% for CHARGE syndrome, and 30% (male) and 22% (mixed sex) for fragile X syndrome.

The study authors comment that although the prevalence of ASD varied between syndromes, nonetheless this prevalence was consistently higher than in the general population.

This study shows that ASD is associated with a variety of genetic syndromes and with varying degrees of prevalence. This reinforces the view that there is no simple correlation between ASD and a single causal factor, genetic or otherwise.

* Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis. Richards, Caroline et al. The Lancet Psychiatry , Volume 2 , Issue 10 , 909 – 916


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Welcome to ourNews, where we keep up-to-date with research and other news related to infant mental health. These articles can be of interest to both parents and professionals.
We are keen to know your views and so please do comment on our articles.
Is there a topic that you would like us to write about? Just send us a message via 'Contact us'.

ourAdvice, our other blog, has brief posts with advice for parents.

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