دورية أكاديمية
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 |
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| المؤلفون: | de Vries P. J., Belousova E., Benedik M. P., Carter T., Cottin V., Curatolo P., Dahlin M., D'Amato L., d'Augeres G. B., Ferreira J. C., Feucht M., Fladrowski C., Hertzberg C., Jozwiak S., Kingswood J. C., Lawson J. A., Macaya A., Marques R., Nabbout R., O'Callaghan F., Qin J., Sander V., Sauter M., Shah S., Takahashi Y., Touraine R., Youroukos S., Zonnenberg B., Jansen A. C. |
| المساهمون: | de Vries, Pj, Belousova, E, Benedik, Mp, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, D'Amato, L, D'Augeres, Gb, Ferreira, Jc, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Kingswood, Jc, Lawson, Ja, Macaya, A, Marques, R, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Jansen, Ac |
| بيانات النشر: | BMC |
| سنة النشر: | 2018 |
| المجموعة: | Universitá degli Studi di Roma "Tor Vergata": ART - Archivio Istituzionale della Ricerca |
| مصطلحات موضوعية: | TOSCA, TSC-associated neuropsychiatric disorder, Tuberous sclerosis complex, Adolescent, Adult, Anxiety Disorder, Attention Deficit Disorder with Hyperactivity, Autism Spectrum Disorder, Child, Preschool, Depressive Disorder, Female, Genotype, Human, Intellectual Disability, Male, Mutation, Neuropsychological Test, Tuberous Sclerosi, Tuberous Sclerosis Complex 1 Protein, Tuberous Sclerosis Complex 2 Protein, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE |
| 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 < 5th percentile) in 55.7%. Significantly higher rates of overactivity and impulsivity were observed in children and higher rates of anxiety, depressed mood, mood swings, obsessions, psychosis and hallucinations were observed in adults. Genotype-TAND correlations showed a higher frequency of self-injury, ASD, academic difficulties and neuropsychological deficits in TSC2. Those with no mutations identified (NMI) showed a mixed pattern of TAND manifestations. Children and those with TSC2 had significantly higher rates of intellectual disability, suggesting that age and genotype comparisons should be interpreted with caution.Conclusions: These results emphasize the magnitude of TAND in TSC and the importance of ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/30201051; info:eu-repo/semantics/altIdentifier/wos/WOS:000444266400001; volume:13; issue:1; firstpage:157; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/2108/212754Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85055867151 |
| DOI: | 10.1186/s13023-018-0901-8 |
| الإتاحة: | https://doi.org/10.1186/s13023-018-0901-8Test http://hdl.handle.net/2108/212754Test |
| رقم الانضمام: | edsbas.5CCB275D |
| قاعدة البيانات: | BASE |
| DOI: | 10.1186/s13023-018-0901-8 |
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