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Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project

BACKGROUND: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have unique, individual patterns that pose significant challenges for diagnosis, psycho-education, and intervention planning. A recent study suggested that it may be feasible to use TAND Checklist data and data...

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Autores principales: de Vries, Petrus J., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, D’Amato, Lisa, Beure d’Augères, Guillaume, Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, 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, Kingswood, J. Chris, Jansen, Anna C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465404/
https://www.ncbi.nlm.nih.gov/pubmed/32873244
http://dx.doi.org/10.1186/s11689-020-09327-0
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author de Vries, Petrus J.
Belousova, Elena
Benedik, Mirjana P.
Carter, Tom
Cottin, Vincent
Curatolo, Paolo
D’Amato, Lisa
Beure d’Augères, Guillaume
Ferreira, José C.
Feucht, Martha
Fladrowski, Carla
Hertzberg, Christoph
Jozwiak, Sergiusz
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
Kingswood, J. Chris
Jansen, Anna C.
author_facet de Vries, Petrus J.
Belousova, Elena
Benedik, Mirjana P.
Carter, Tom
Cottin, Vincent
Curatolo, Paolo
D’Amato, Lisa
Beure d’Augères, Guillaume
Ferreira, José C.
Feucht, Martha
Fladrowski, Carla
Hertzberg, Christoph
Jozwiak, Sergiusz
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
Kingswood, J. Chris
Jansen, Anna C.
author_sort de Vries, Petrus J.
collection PubMed
description BACKGROUND: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have unique, individual patterns that pose significant challenges for diagnosis, psycho-education, and intervention planning. A recent study suggested that it may be feasible to use TAND Checklist data and data-driven methods to generate natural TAND clusters. However, the study had a small sample size and data from only two countries. Here, we investigated the replicability of identifying natural TAND clusters from a larger and more diverse sample from the TOSCA study. METHODS: As part of the TOSCA international TSC registry study, this embedded research project collected TAND Checklist data from individuals with TSC. Correlation coefficients were calculated for TAND variables to generate a correlation matrix. Hierarchical cluster and factor analysis methods were used for data reduction and identification of natural TAND clusters. RESULTS: A total of 85 individuals with TSC (female:male, 40:45) from 7 countries were enrolled. Cluster analysis grouped the TAND variables into 6 clusters: a scholastic cluster (reading, writing, spelling, mathematics, visuo-spatial difficulties, disorientation), a hyperactive/impulsive cluster (hyperactivity, impulsivity, self-injurious behavior), a mood/anxiety cluster (anxiety, depressed mood, sleep difficulties, shyness), a neuropsychological cluster (attention/concentration difficulties, memory, attention, dual/multi-tasking, executive skills deficits), a dysregulated behavior cluster (mood swings, aggressive outbursts, temper tantrums), and an autism spectrum disorder (ASD)-like cluster (delayed language, poor eye contact, repetitive behaviors, unusual use of language, inflexibility, difficulties associated with eating). The natural clusters mapped reasonably well onto the six-factor solution generated. Comparison between cluster and factor solutions from this study and the earlier feasibility study showed significant similarity, particularly in cluster solutions. CONCLUSIONS: Results from this TOSCA research project in an independent international data set showed that the combination of cluster analysis and factor analysis may be able to identify clinically meaningful natural TAND clusters. Findings were remarkably similar to those identified in the earlier feasibility study, supporting the potential robustness of these natural TAND clusters. Further steps should include examination of larger samples, investigation of internal consistency, and evaluation of the robustness of the proposed natural clusters.
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spelling pubmed-74654042020-09-02 Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project de Vries, Petrus J. Belousova, Elena Benedik, Mirjana P. Carter, Tom Cottin, Vincent Curatolo, Paolo D’Amato, Lisa Beure d’Augères, Guillaume Ferreira, José C. Feucht, Martha Fladrowski, Carla Hertzberg, Christoph Jozwiak, Sergiusz 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 Kingswood, J. Chris Jansen, Anna C. J Neurodev Disord Research BACKGROUND: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have unique, individual patterns that pose significant challenges for diagnosis, psycho-education, and intervention planning. A recent study suggested that it may be feasible to use TAND Checklist data and data-driven methods to generate natural TAND clusters. However, the study had a small sample size and data from only two countries. Here, we investigated the replicability of identifying natural TAND clusters from a larger and more diverse sample from the TOSCA study. METHODS: As part of the TOSCA international TSC registry study, this embedded research project collected TAND Checklist data from individuals with TSC. Correlation coefficients were calculated for TAND variables to generate a correlation matrix. Hierarchical cluster and factor analysis methods were used for data reduction and identification of natural TAND clusters. RESULTS: A total of 85 individuals with TSC (female:male, 40:45) from 7 countries were enrolled. Cluster analysis grouped the TAND variables into 6 clusters: a scholastic cluster (reading, writing, spelling, mathematics, visuo-spatial difficulties, disorientation), a hyperactive/impulsive cluster (hyperactivity, impulsivity, self-injurious behavior), a mood/anxiety cluster (anxiety, depressed mood, sleep difficulties, shyness), a neuropsychological cluster (attention/concentration difficulties, memory, attention, dual/multi-tasking, executive skills deficits), a dysregulated behavior cluster (mood swings, aggressive outbursts, temper tantrums), and an autism spectrum disorder (ASD)-like cluster (delayed language, poor eye contact, repetitive behaviors, unusual use of language, inflexibility, difficulties associated with eating). The natural clusters mapped reasonably well onto the six-factor solution generated. Comparison between cluster and factor solutions from this study and the earlier feasibility study showed significant similarity, particularly in cluster solutions. CONCLUSIONS: Results from this TOSCA research project in an independent international data set showed that the combination of cluster analysis and factor analysis may be able to identify clinically meaningful natural TAND clusters. Findings were remarkably similar to those identified in the earlier feasibility study, supporting the potential robustness of these natural TAND clusters. Further steps should include examination of larger samples, investigation of internal consistency, and evaluation of the robustness of the proposed natural clusters. BioMed Central 2020-09-01 /pmc/articles/PMC7465404/ /pubmed/32873244 http://dx.doi.org/10.1186/s11689-020-09327-0 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
de Vries, Petrus J.
Belousova, Elena
Benedik, Mirjana P.
Carter, Tom
Cottin, Vincent
Curatolo, Paolo
D’Amato, Lisa
Beure d’Augères, Guillaume
Ferreira, José C.
Feucht, Martha
Fladrowski, Carla
Hertzberg, Christoph
Jozwiak, Sergiusz
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
Kingswood, J. Chris
Jansen, Anna C.
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
title Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
title_full Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
title_fullStr Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
title_full_unstemmed Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
title_short Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
title_sort natural clusters of tuberous sclerosis complex (tsc)-associated neuropsychiatric disorders (tand): new findings from the tosca tand research project
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465404/
https://www.ncbi.nlm.nih.gov/pubmed/32873244
http://dx.doi.org/10.1186/s11689-020-09327-0
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