Title |
Autism, epilepsy, and synaptopathies: a not rare association
|
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Published in |
Neurological Sciences, April 2017
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DOI | 10.1007/s10072-017-2974-x |
Pubmed ID | |
Authors |
Roberto Keller, Roberta Basta, Luana Salerno, Maurizio Elia |
Abstract |
Autism spectrum disorders (ASD) are neurodevelopmental disorders typically diagnosed in childhood, characterized by core social dysfunction, rigid and repetitive behaviors, restricted interests, and abnormal sensorial sensitivity. ASD belong to multifactorial diseases: both genetic and environmental factors have been considered as potential risk factors for their onset. ASD are often associated with neurological conditions: the co-occurrence of epilepsy is well documented and there is also evidence of a higher prevalence of EEG abnormalities with 4-86% of individuals with ASD presenting epileptiform or not epileptiform EEG abnormalities. The presence of epilepsy in people with ASD may be determined by several structural alterations, genetic conditions, or metabolic dysfunctions, known to play a role in the emergence of both epilepsy and autism. The purpose of this article is to discuss precisely such latter cause of the autism-epilepsy association, focusing specifically on those "synaptic genes," whose mutation predisposes to both the diseases. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 4 | 50% |
United States | 1 | 13% |
Unknown | 3 | 38% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 5 | 63% |
Practitioners (doctors, other healthcare professionals) | 3 | 38% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 188 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 27 | 14% |
Student > Master | 23 | 12% |
Student > Bachelor | 20 | 11% |
Student > Ph. D. Student | 18 | 10% |
Student > Doctoral Student | 14 | 7% |
Other | 26 | 14% |
Unknown | 60 | 32% |
Readers by discipline | Count | As % |
---|---|---|
Neuroscience | 39 | 21% |
Medicine and Dentistry | 26 | 14% |
Agricultural and Biological Sciences | 16 | 9% |
Biochemistry, Genetics and Molecular Biology | 13 | 7% |
Psychology | 10 | 5% |
Other | 16 | 9% |
Unknown | 68 | 36% |