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• W2038203468 abstract "Neuropsychiatric symptoms are very common in tuberous sclerosis complex (TSC). Autism is present in up to 60% of these patients, and TSC accounts for 1-4% of all cases of autism. In this study, we illustrate a 27 year-old female patient with TSC, autism, and renal angiomyolipomas, in whom everolimus treatment was associated with improvement in behavioral deficits. She took part in an everolimus clinical trial (EXIST-2: ClinicalTrials.gov number NCT00790400) to assess the efficacy of this drug in TSC. It was a randomized, double-blind, placebo-controlled study of everolimus (RAD001) (10 mg/day during 18 months) in the treatment of TSC-related angiomyolipoma. The Japanese version of the Aberrant Behavior Checklist (ABC) and the Pervasive Developmental Disorders - Autism Society Japan Rating Scale (PARS) were used to assess the severity of behavioral deficits. Clinical improvement after everolimus treatment was more remarkable for irritability, stereotypic behavior and inappropriate speech scores on the ABC scale. In addition, stereotypic behavior and lethargy/social withdrawal subscale scores showed an overall reduction of 10 and 8 points, respectively. The severity of autistic symptoms measured with the PARS also showed a marked reduction after treatment. There were no abnormal EEG findings before the treatment and no changes after the treatment. Our findings are consistent with those of animal models proposing that treatment of TSC1 and TSC2 mutant mice with the mTOR inhibitor rapamycin, reversed impaired social interaction. This makes everolimus a promising drug for the treatment of TSC patients with autism. Our findings warrant further investigation in future clinical trials." @default.
• W2038203468 created "2016-06-24" @default.
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• W2038203468 date "2015-06-16" @default.
• W2038203468 modified "2023-10-18" @default.
• W2038203468 title "Everolimus improves behavioral deficits in a patient with autism associated with tuberous sclerosis: a case report" @default.
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• W2038203468 doi "https://doi.org/10.1186/s40810-015-0004-x" @default.
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