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TSC-associated neuropsychiatric disorders (TAND) : findings from the TOSCA natural history study. / de Vries, Petrus J; Belousova, Elena; Benedik, Mirjana P; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; d'Augères, Guillaume B; Ferreira, José 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.

In: Orphanet Journal of Rare Diseases, Vol. 13, No. 1, 10.09.2018, p. 157-157.

Research output: Contribution to journalArticle

Harvard

de Vries, PJ, Belousova, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, D'Amato, L, d'Augères, 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 & TOSCA Consortium and TOSCA Investigators 2018, 'TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study', Orphanet Journal of Rare Diseases, vol. 13, no. 1, pp. 157-157. https://doi.org/10.1186/s13023-018-0901-8

APA

de Vries, P. J., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., ... TOSCA Consortium and TOSCA Investigators (2018). TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study. Orphanet Journal of Rare Diseases, 13(1), 157-157. https://doi.org/10.1186/s13023-018-0901-8

Vancouver

de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P et al. TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study. Orphanet Journal of Rare Diseases. 2018 Sep 10;13(1):157-157. https://doi.org/10.1186/s13023-018-0901-8

Author

de Vries, Petrus J ; Belousova, Elena ; Benedik, Mirjana P ; Carter, Tom ; Cottin, Vincent ; Curatolo, Paolo ; Dahlin, Maria ; D'Amato, Lisa ; d'Augères, Guillaume B ; Ferreira, José 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. / TSC-associated neuropsychiatric disorders (TAND) : findings from the TOSCA natural history study. In: Orphanet Journal of Rare Diseases. 2018 ; Vol. 13, No. 1. pp. 157-157.

BibTeX

@article{db526234874242e9a15086f9d32d39d5,
title = "TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study",
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 <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 evaluating for neuropsychiatric comorbidity in all children and adults with TSC, across TSC1 and TSC2 genotypes, as well as in those with no mutations identified. However, the high rates of unreported or missing TAND data in this study underline the fact that, even in expert centres, TAND remains underdiagnosed and potentially undertreated.",
keywords = "Journal Article",
author = "{de Vries}, {Petrus J} and Elena Belousova and Benedik, {Mirjana P} and Tom Carter and Vincent Cottin and Paolo Curatolo and Maria Dahlin and Lisa D'Amato and d'Aug{\`e}res, {Guillaume B} and Ferreira, {Jos{\'e} C} and Martha Feucht and Carla Fladrowski and Christoph Hertzberg and Sergiusz Jozwiak and Kingswood, {J Chris} and Lawson, {John A} and Alfons Macaya and Ruben Marques and Rima Nabbout and Finbar O'Callaghan and Jiong Qin and Valentin Sander and Matthias Sauter and Seema Shah and Yukitoshi Takahashi and Renaud Touraine and Sotiris Youroukos and Bernard Zonnenberg and Jansen, {Anna C} and {TOSCA Consortium and TOSCA Investigators}",
year = "2018",
month = "9",
day = "10",
doi = "10.1186/s13023-018-0901-8",
language = "English",
volume = "13",
pages = "157--157",
journal = "Orphanet Journal of Rare Diseases",
issn = "1750-1172",
publisher = "BioMed Central",
number = "1",

}

RIS

TY - JOUR

T1 - TSC-associated neuropsychiatric disorders (TAND)

T2 - findings from the TOSCA natural history study

AU - de Vries, Petrus J

AU - Belousova, Elena

AU - Benedik, Mirjana P

AU - Carter, Tom

AU - Cottin, Vincent

AU - Curatolo, Paolo

AU - Dahlin, Maria

AU - D'Amato, Lisa

AU - d'Augères, Guillaume B

AU - Ferreira, José C

AU - Feucht, Martha

AU - Fladrowski, Carla

AU - Hertzberg, Christoph

AU - Jozwiak, Sergiusz

AU - Kingswood, J Chris

AU - Lawson, John A

AU - Macaya, Alfons

AU - Marques, Ruben

AU - Nabbout, Rima

AU - O'Callaghan, Finbar

AU - Qin, Jiong

AU - Sander, Valentin

AU - Sauter, Matthias

AU - Shah, Seema

AU - Takahashi, Yukitoshi

AU - Touraine, Renaud

AU - Youroukos, Sotiris

AU - Zonnenberg, Bernard

AU - Jansen, Anna C

AU - TOSCA Consortium and TOSCA Investigators

PY - 2018/9/10

Y1 - 2018/9/10

N2 - 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 evaluating for neuropsychiatric comorbidity in all children and adults with TSC, across TSC1 and TSC2 genotypes, as well as in those with no mutations identified. However, the high rates of unreported or missing TAND data in this study underline the fact that, even in expert centres, TAND remains underdiagnosed and potentially undertreated.

AB - 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 evaluating for neuropsychiatric comorbidity in all children and adults with TSC, across TSC1 and TSC2 genotypes, as well as in those with no mutations identified. However, the high rates of unreported or missing TAND data in this study underline the fact that, even in expert centres, TAND remains underdiagnosed and potentially undertreated.

KW - Journal Article

UR - https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0901-8

UR - http://www.mendeley.com/research/tscassociated-neuropsychiatric-disorders-tand-findings-tosca-natural-history-study

U2 - 10.1186/s13023-018-0901-8

DO - 10.1186/s13023-018-0901-8

M3 - Article

C2 - 30201051

VL - 13

SP - 157

EP - 157

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

IS - 1

ER -

ID: 39765017