TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study
| العنوان: | TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study |
|---|---|
| المؤلفون: | de Vries, Petrus J, Belousova, Elena, Benedik, Mirjana P, Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, d'Augères, Guiillaume B, Ferreira, Jose C, Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Kingswood, J Chris, Lawson, John A, Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C, TOSCA Consortium and TOSCA Investigators, on behalf of, Verhelst, Helene |
| المساهمون: | Division of Child and Adolescent Psychiatry, Faculty of Health Sciences, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Pediatrics |
| المصدر: | Orphanet Journal of Rare Diseases ORPHANET JOURNAL OF RARE DISEASES Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-13 (2018) |
| بيانات النشر: | BioMed Central, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, Male, TSC-associated neuropsychiatric disorders, Autism Spectrum Disorder, CHECKLIST, lcsh:Medicine, Neuropsychological Tests, Tuberous Sclerosis Complex 1 Protein, RECOMMENDATIONS, CONSENSUS CONFERENCE, 0302 clinical medicine, Tuberous Sclerosis, Intellectual disability, Medicine and Health Sciences, Pharmacology (medical), Child, Genetics (clinical), POPULATION, General Medicine, Anxiety Disorders, Settore MED/39 - Neuropsichiatria Infantile, 3. Good health, Autism spectrum disorder, Child, Preschool, Anxiety, Female, medicine.symptom, Anxiety disorder, BEHAVIOR, Clinical psychology, Adult, Adolescent, Genotype, Mood swing, Impulsivity, 03 medical and health sciences, Young Adult, Intellectual Disability, Tuberous Sclerosis Complex 2 Protein, medicine, Journal Article, MANAGEMENT, Attention deficit hyperactivity disorder, Humans, Preschool, TOSCA, Depressive Disorder, business.industry, MUTATIONS, Research, lcsh:R, Biology and Life Sciences, medicine.disease, Comorbidity, INDIVIDUALS, 030104 developmental biology, Attention Deficit Disorder with Hyperactivity, Tuberous sclerosis complex, Mutation, COGNITION, business, 030217 neurology & neurosurgery |
| الوصف: | 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 |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1750-1172 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4383f565901b46ed12cd83df45a8aceeTest https://doi.org/10.1186/s13023-018-0901-8Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4383f565901b46ed12cd83df45a8acee |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17501172 |
|---|