sábado, 5 de diciembre de 2015

Orphanet Journal of Rare Diseases | Full text | Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

Orphanet Journal of Rare Diseases | Full text | Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

Orphanet Journal of Rare Diseases

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

Aglaia Vignoli1*Francesca La Briola1Angela Peron1Katherine Turner1Chiara Vannicola1Monica Saccani2Elisabetta Magnaghi2Giulia Federica Scornavacca1 and Maria Paola Canevini1
1Child Neuropsychiatry Unit – Epilepsy Center, AO San Paolo, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy
2Child Neuropsychiatry Unit, AO San Paolo, Milan, Italy
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Orphanet Journal of Rare Diseases 2015, 10:154  doi:10.1186/s13023-015-0371-1
The electronic version of this article is the complete one and can be found online at:http://www.ojrd.com/content/10/1/154

Received:9 September 2015
Accepted:24 November 2015
Published:2 December 2015
© 2015 Vignoli et al. 
Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.



Neuropsychiatric disorders are present in up to 90 % of patients with Tuberous Sclerosis Complex (TSC), and represent an important issue for families. Autism Spectrum Disorder (ASD) is the most common neurobehavioral disease, affecting up to 61 % of patients. The aims of this study were: 1) to assess the prevalence of ASD in a TSC population; 2) to describe the severity of ASD; 3) to identify potential risk factors associated with the development of ASD in TSC patients.


We selected 42 individuals over age 4 years with a definite diagnosis of TSC and followed at a TSC clinic in Northern Italy. We collected and reported clinical and genetic data, as well as cognitive level, for each of them. We administered the Social Communication Questionnaire (SCQ) as a reliable screening tool for ASD, and performed comparisons between the average scores and each clinical and genetic feature.


Seventeen out of 42 patients (40.5 %) had a score at the SCQ suggestive of ASD (≥15 points). When calculated for each cognitive level category, the average SCQ score tended to be progressively higher in patients with a worse cognitive level, and the number of pathological SCQ scores increased with worsening of intellectual disability. With respect to ASD severity, the scores were equally distributed, indicating that the degree of ASD in TSC patients may have a large variability. By comparing the average SCQ scores with the clinical features, we found statistically significant correlations with epilepsy, seizure onset before age one year, spasms, mutations inTSC2, cognitive level, sleep disorders, and other psychiatric problems, but not with seizure frequency, tubers localization and gender.


Our study showed a prevalence of ASD of 40.5 %, confirming the higher risk for this disorder in patients with TSC. However, the severity seems to have a notable variability in TSC patients. Risk factors for ASD are epilepsy, infantile spams, and mutations in TSC2.
Tuberous Sclerosis Complex; TSC; Autism Spectrum Disorder; ASD; Autism; Social Communication Questionnaire; TSC1; TSC2

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