دورية أكاديمية

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

التفاصيل البيبلوغرافية
العنوان: TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study
المؤلفون: Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume B. d’Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, J. Chris Kingswood, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen, on behalf of TOSCA Consortium and TOSCA Investigators
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-13 (2018)
بيانات النشر: BMC, 2018.
سنة النشر: 2018
المجموعة: LCC:Medicine
مصطلحات موضوعية: TSC-associated neuropsychiatric disorders, Tuberous sclerosis complex, TOSCA, Medicine
الوصف: Abstract Background Most evidence for TSC-associated neuropsychiatric disorders (TAND) to date have come from small studies and case reports, and very little is known about TAND in adults. We explored baseline TAND data from the large-scale international TOSCA natural history study to compare childhood and adult patterns, describe age-based patterns, and explore genotype-TAND correlations. Results The study enrolled 2216 eligible participants with TSC from 170 sites across 31 countries at the data cut-off for the third interim analysis (data cut-off date: September 30, 2015). The most common behavioural problems (reported in > 10% of participants) were overactivity, sleep difficulties, impulsivity, anxiety, mood swings, severe aggression, depressed mood, self-injury, and obsessions. Psychiatric disorders included autism spectrum disorder (ASD, 21.1%), attention deficit hyperactivity disorder (ADHD, 19.1%), anxiety disorder (9.7%), and depressive disorder (6.1%). Intelligence quotient (IQ) scores were available for 885 participants. Of these, 44.4% had normal IQ, while mild, moderate, severe, and profound degrees of intellectual disability (ID) were observed in 28.1, 15.1, 9.3, and 3.1%, respectively. Academic difficulties were identified in 58.6% of participants, and neuropsychological deficits (performance
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1750-1172
العلاقة: http://link.springer.com/article/10.1186/s13023-018-0901-8Test; https://doaj.org/toc/1750-1172Test
DOI: 10.1186/s13023-018-0901-8
الوصول الحر: https://doaj.org/article/08bf139c0844469592ae8586a150d1cbTest
رقم الانضمام: edsdoj.08bf139c0844469592ae8586a150d1cb
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:17501172
DOI:10.1186/s13023-018-0901-8