International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) / Petrus J. DE VRIES in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) Type de document : texte imprimé Auteurs : Petrus J. DE VRIES, Auteur ; Tosca-Marie HEUNIS, Auteur ; Stephanie VANCLOOSTER, Auteur ; Nola CHAMBERS, Auteur ; Stacey BISSELL, Auteur ; Anna W. BYARS, Auteur ; Jennifer FLINN, Auteur ; Tanjala T. GIPSON, Auteur ; Agnies M. VAN EEGHEN, Auteur ; Robert WALTEREIT, Auteur ; Jamie K. CAPAL, Auteur ; Sebastián CUKIER, Auteur ; Peter E. DAVIS, Auteur ; Catherine SMITH, Auteur ; J. Chris KINGSWOOD, Auteur ; Eva SCHOETERS, Auteur ; Shoba SRIVASTAVA, Auteur ; Megumi TAKEI, Auteur ; Sugnet GARDNER-LUBBE, Auteur ; Aubrey J. KUMM, Auteur ; Darcy A. KRUEGER, Auteur ; Mustafa SAHIN, Auteur ; Liesbeth DE WAELE, Auteur ; Anna C. JANSEN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Affect  Anxiety  Autistic Disorder  Consensus  Tuberous Sclerosis/complications/diagnosis/therapy  Consensus recommendations  Education  Mental health  Neurodevelopmental disability  Rare genetic disorders  Tand  Tuberous sclerosis complex  sponsored by Novartis, was on the scientific advisory group of the TOSCA  international disease registry sponsored by Novartis, and has provided  consultancy to GW Pharma. SB is funded by Cerebra to investigate sleep and  behavior in rare genetic syndromes, including TSC. AVE is on the scientific  advisory board and received grant support from Jazz Pharmaceuticals. JC receives  grant funding from the NIH and the Department of Defense for projects related to  TSC. PD receives partial salary support from the NIH for participation in studies  related to TSC, as well as from Aucta Pharmaceuticals for a study of topical  sirolimus for facial angiofibromas in TSC and Marinus Pharmaceuticals for a study  of ganaxolone for TSC‑related epilepsy. CS receives salary support from the TSC  Alliance, a non‑profit organization that reports revenue from individual donors  and corporations including Greenwich Biosciences, GW Pharma, Mallinckrodt,  Nobelpharma, Novartis, Ovid, UCB, and Upsher‑Smith. DAK reports grants from the  National Institutes of Health (NINDS) during the conduct of the study as well as  the personal fees from Novartis Pharmaceuticals, personal fees from Greenwich  Bioscience, grants from Marinus Pharmaceuticals, personal fees from Nobelpharma  America, personal fees from REGENXBIO, and grants and non‑financial support from  TSC Alliance outside the submitted work. MS reports grant support from Novartis,  Biogen, Astellas, Aeovian, Bridgebio, and Aucta and has served on Scientific  Advisory Boards for Novartis, Roche, Regenxbio, SpringWorks Therapeutics, Jaguar  Therapeutics, and Alkermes. ACJ was on the scientific advisory group of the TOSCA  international disease registry sponsored by Novartis and has provided consultancy  to GW Pharma. The remaining authors declared no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC) is associated with a wide range of physical manifestations for which international clinical recommendations for diagnosis and management have been established. TSC is, however, also associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND) that are typically under-identified and under-treated yet associated with a profound burden of disease. The contemporary evidence base for the identification and treatment of TAND is much more limited and, to date, consensus recommendations for the diagnosis and management of TAND have also been limited and non-specific. METHODS: The TANDem project was launched with an international, interdisciplinary, and participatory consortium of 24 individuals, including TSC family representatives, from all World Health Organization (WHO) regions but one. One of the aims of the TANDem project was to generate consensus recommendations for the identification and treatment of TAND. At the time of this project, no internationally adopted standard methodology and methodological checklists existed for the generation of clinical practice recommendations. We therefore developed our own systematic procedure for evidence review and consensus-building to generate evidence-informed consensus recommendations of relevance to the global TSC community. RESULTS: At the heart of the consensus recommendations are ten core principles surrounded by cluster-specific recommendations for each of the seven natural TAND clusters identified in the literature (autism-like, dysregulated behavior, eat/sleep, mood/anxiety, neuropsychological, overactive/impulsive, and scholastic) and a set of wraparound psychosocial cluster recommendations. The overarching recommendation is to "screen" for TAND at least annually, to "act" using appropriate next steps for evaluation and treatment, and to "repeat" the process to ensure early identification and early intervention with the most appropriate biological, psychological, and social evidence-informed approaches to support individuals with TSC and their families. CONCLUSIONS: The consensus recommendations should provide a systematic framework to approach the identification and treatment of TAND for health, educational, social care teams and families who live with TSC. To ensure global dissemination and implementation of these recommendations, partnerships with the international TSC community will be important. One of these steps will include the generation of a "TAND toolkit" of "what to seek" and "what to do" when difficulties are identified in TAND clusters. En ligne : https://dx.doi.org/10.1186/s11689-023-09500-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) [texte imprimé] / Petrus J. DE VRIES, Auteur ; Tosca-Marie HEUNIS, Auteur ; Stephanie VANCLOOSTER, Auteur ; Nola CHAMBERS, Auteur ; Stacey BISSELL, Auteur ; Anna W. BYARS, Auteur ; Jennifer FLINN, Auteur ; Tanjala T. GIPSON, Auteur ; Agnies M. VAN EEGHEN, Auteur ; Robert WALTEREIT, Auteur ; Jamie K. CAPAL, Auteur ; Sebastián CUKIER, Auteur ; Peter E. DAVIS, Auteur ; Catherine SMITH, Auteur ; J. Chris KINGSWOOD, Auteur ; Eva SCHOETERS, Auteur ; Shoba SRIVASTAVA, Auteur ; Megumi TAKEI, Auteur ; Sugnet GARDNER-LUBBE, Auteur ; Aubrey J. KUMM, Auteur ; Darcy A. KRUEGER, Auteur ; Mustafa SAHIN, Auteur ; Liesbeth DE WAELE, Auteur ; Anna C. JANSEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Affect  Anxiety  Autistic Disorder  Consensus  Tuberous Sclerosis/complications/diagnosis/therapy  Consensus recommendations  Education  Mental health  Neurodevelopmental disability  Rare genetic disorders  Tand  Tuberous sclerosis complex  sponsored by Novartis, was on the scientific advisory group of the TOSCA  international disease registry sponsored by Novartis, and has provided  consultancy to GW Pharma. SB is funded by Cerebra to investigate sleep and  behavior in rare genetic syndromes, including TSC. AVE is on the scientific  advisory board and received grant support from Jazz Pharmaceuticals. JC receives  grant funding from the NIH and the Department of Defense for projects related to  TSC. PD receives partial salary support from the NIH for participation in studies  related to TSC, as well as from Aucta Pharmaceuticals for a study of topical  sirolimus for facial angiofibromas in TSC and Marinus Pharmaceuticals for a study  of ganaxolone for TSC‑related epilepsy. CS receives salary support from the TSC  Alliance, a non‑profit organization that reports revenue from individual donors  and corporations including Greenwich Biosciences, GW Pharma, Mallinckrodt,  Nobelpharma, Novartis, Ovid, UCB, and Upsher‑Smith. DAK reports grants from the  National Institutes of Health (NINDS) during the conduct of the study as well as  the personal fees from Novartis Pharmaceuticals, personal fees from Greenwich  Bioscience, grants from Marinus Pharmaceuticals, personal fees from Nobelpharma  America, personal fees from REGENXBIO, and grants and non‑financial support from  TSC Alliance outside the submitted work. MS reports grant support from Novartis,  Biogen, Astellas, Aeovian, Bridgebio, and Aucta and has served on Scientific  Advisory Boards for Novartis, Roche, Regenxbio, SpringWorks Therapeutics, Jaguar  Therapeutics, and Alkermes. ACJ was on the scientific advisory group of the TOSCA  international disease registry sponsored by Novartis and has provided consultancy  to GW Pharma. The remaining authors declared no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC) is associated with a wide range of physical manifestations for which international clinical recommendations for diagnosis and management have been established. TSC is, however, also associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND) that are typically under-identified and under-treated yet associated with a profound burden of disease. The contemporary evidence base for the identification and treatment of TAND is much more limited and, to date, consensus recommendations for the diagnosis and management of TAND have also been limited and non-specific. METHODS: The TANDem project was launched with an international, interdisciplinary, and participatory consortium of 24 individuals, including TSC family representatives, from all World Health Organization (WHO) regions but one. One of the aims of the TANDem project was to generate consensus recommendations for the identification and treatment of TAND. At the time of this project, no internationally adopted standard methodology and methodological checklists existed for the generation of clinical practice recommendations. We therefore developed our own systematic procedure for evidence review and consensus-building to generate evidence-informed consensus recommendations of relevance to the global TSC community. RESULTS: At the heart of the consensus recommendations are ten core principles surrounded by cluster-specific recommendations for each of the seven natural TAND clusters identified in the literature (autism-like, dysregulated behavior, eat/sleep, mood/anxiety, neuropsychological, overactive/impulsive, and scholastic) and a set of wraparound psychosocial cluster recommendations. The overarching recommendation is to "screen" for TAND at least annually, to "act" using appropriate next steps for evaluation and treatment, and to "repeat" the process to ensure early identification and early intervention with the most appropriate biological, psychological, and social evidence-informed approaches to support individuals with TSC and their families. CONCLUSIONS: The consensus recommendations should provide a systematic framework to approach the identification and treatment of TAND for health, educational, social care teams and families who live with TSC. To ensure global dissemination and implementation of these recommendations, partnerships with the international TSC community will be important. One of these steps will include the generation of a "TAND toolkit" of "what to seek" and "what to do" when difficulties are identified in TAND clusters. En ligne : https://dx.doi.org/10.1186/s11689-023-09500-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Patient reported outcomes that matter to individuals with (genetic) intellectual disabilities: a qualitative study / Nadia Y. VAN SILFHOUT in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Patient reported outcomes that matter to individuals with (genetic) intellectual disabilities: a qualitative study Type de document : texte imprimé Auteurs : Nadia Y. VAN SILFHOUT, Auteur ; Maud M. VAN MUILEKOM, Auteur ; Clara D. VAN KARNEBEEK, Auteur ; Lotte HAVERMAN, Auteur ; Agnies M. VAN EEGHEN, Auteur Langues : Anglais (eng) Mots-clés : Genetic syndromes  Intellectual disabilities  Patient reported outcome measures  Patient reported outcomes  Review Committee of the Amsterdam UMC declared that the Medical Research  Involving Human Subjects Act (WMO) does not apply to this study and that a formal  ethical approval was not necessary (W22_345 # 22.413). All participants provided  written informed consent. Consent for publication: Not applicable. Competing  interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: To improve the quality of care and the impact of interventions for individuals with (genetic) intellectual disabilities ((G)ID), it is essential to identify and measure relevant patient reported outcomes (PROs), which represent patient perspective on their health and functioning. Currently, various, and potentially irrelevant PROs are being measured for individuals with (G)ID. The aim of this study is to identify relevant PROs from the perspective of different stakeholders, as one of the first steps towards development of a meaningful PRO set for children and adults with (G)ID. METHODS: A qualitative study was performed using focus groups and interviews with individuals with (G)ID, caregivers, healthcare professionals (HCPs) and European patient representatives. A focus group- and interview guide was developed including two themes: the impact of (G)ID on daily life and important topics to discuss with HCPs. Data collection took place until data sufficiency was reached. All sessions were recorded and transcribed verbatim. Transcripts were analysed by three researchers using a thematic analysis approach. PROs were classified and conceptualized (i.e., describing the content of each PRO in detail) within a conceptual framework. RESULTS: Ten focus groups and 13 interviews were conducted with a total of 51 participants. In total, seven adolescents and 10 adults with (G)ID, 12 caregivers, 13 multidisciplinary HCPs and nine European patient representatives participated. Data sufficiency was reached. PROs reported by participants were related to all health domains including physical, mental, and social functioning. Themes related to the negative impact of (G)ID were prioritized for discussion during consultations. CONCLUSIONS: This study sheds light on relevant PROs for individuals with (G)ID, marking one of the first steps in developing a meaningful PRO set for (G)ID. Once established, this set will inform care, research agendas, policymaking, and the development of a generic patient reported outcome measure (PROM) set for (G)ID, improving care quality and research impact for this complex and vulnerable population. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s11689-025-09647-z. En ligne : https://dx.doi.org/10.1186/s11689-025-09647-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Patient reported outcomes that matter to individuals with (genetic) intellectual disabilities: a qualitative study [texte imprimé] / Nadia Y. VAN SILFHOUT, Auteur ; Maud M. VAN MUILEKOM, Auteur ; Clara D. VAN KARNEBEEK, Auteur ; Lotte HAVERMAN, Auteur ; Agnies M. VAN EEGHEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Genetic syndromes  Intellectual disabilities  Patient reported outcome measures  Patient reported outcomes  Review Committee of the Amsterdam UMC declared that the Medical Research  Involving Human Subjects Act (WMO) does not apply to this study and that a formal  ethical approval was not necessary (W22_345 # 22.413). All participants provided  written informed consent. Consent for publication: Not applicable. Competing  interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: To improve the quality of care and the impact of interventions for individuals with (genetic) intellectual disabilities ((G)ID), it is essential to identify and measure relevant patient reported outcomes (PROs), which represent patient perspective on their health and functioning. Currently, various, and potentially irrelevant PROs are being measured for individuals with (G)ID. The aim of this study is to identify relevant PROs from the perspective of different stakeholders, as one of the first steps towards development of a meaningful PRO set for children and adults with (G)ID. METHODS: A qualitative study was performed using focus groups and interviews with individuals with (G)ID, caregivers, healthcare professionals (HCPs) and European patient representatives. A focus group- and interview guide was developed including two themes: the impact of (G)ID on daily life and important topics to discuss with HCPs. Data collection took place until data sufficiency was reached. All sessions were recorded and transcribed verbatim. Transcripts were analysed by three researchers using a thematic analysis approach. PROs were classified and conceptualized (i.e., describing the content of each PRO in detail) within a conceptual framework. RESULTS: Ten focus groups and 13 interviews were conducted with a total of 51 participants. In total, seven adolescents and 10 adults with (G)ID, 12 caregivers, 13 multidisciplinary HCPs and nine European patient representatives participated. Data sufficiency was reached. PROs reported by participants were related to all health domains including physical, mental, and social functioning. Themes related to the negative impact of (G)ID were prioritized for discussion during consultations. CONCLUSIONS: This study sheds light on relevant PROs for individuals with (G)ID, marking one of the first steps in developing a meaningful PRO set for (G)ID. Once established, this set will inform care, research agendas, policymaking, and the development of a generic patient reported outcome measure (PROM) set for (G)ID, improving care quality and research impact for this complex and vulnerable population. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s11689-025-09647-z. En ligne : https://dx.doi.org/10.1186/s11689-025-09647-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review / Nadia Y. VAN SILFHOUT in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review Type de document : texte imprimé Auteurs : Nadia Y. VAN SILFHOUT, Auteur ; Maud M. VAN MUILEKOM, Auteur ; Clara D. VAN KARNEBEEK, Auteur ; Joost G. DAAMS, Auteur ; Lotte HAVERMAN, Auteur ; Agnies M. VAN EEGHEN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Clinical Trials as Topic  Intellectual Disability/therapy/psychology/genetics  Patient Reported Outcome Measures  Quality of Life  Genetic intellectual disability  Patient reported outcome measures  Patient reported outcomes  for publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The impact of genetic intellectual disability (GID) on daily life is significant. To better understand the impact of GID, it is essential to measure relevant patient reported outcomes (PROs). The aim of this study is to provide an overview of PROs used for individuals with GID, laying the groundwork for a future generic core PRO set for GID. METHODS: To identify PROs used for individuals with GID, results of two literature reviews were integrated; (1) PROs extracted from a scoping review on outcomes in clinical trials, and (2) PROs identified from a scoping review on core outcome sets (COSs) for specific GIDs through a search in MEDLINE (Ovid), PsycINFO, Embase, and the COMET database. Descriptive analyses were performed. RESULTS: In the first scoping review, 66 different PROs were identified. In the second scoping review, 22 different PROs were identified. After integrating PROs, 18 unique PROs remained, which were classified into a conceptual framework. Most frequently reported PROs were quality of life, perceived health, cognitive functioning, anxiety/stress, and depressive symptoms. CONCLUSION: This study provides an overview of PROs used for individuals with GID. These results will assist in developing a generic core PRO set for GID, to harmonize PROs used in care and research. En ligne : https://dx.doi.org/10.1186/s11689-025-09633-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review [texte imprimé] / Nadia Y. VAN SILFHOUT, Auteur ; Maud M. VAN MUILEKOM, Auteur ; Clara D. VAN KARNEBEEK, Auteur ; Joost G. DAAMS, Auteur ; Lotte HAVERMAN, Auteur ; Agnies M. VAN EEGHEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Clinical Trials as Topic  Intellectual Disability/therapy/psychology/genetics  Patient Reported Outcome Measures  Quality of Life  Genetic intellectual disability  Patient reported outcome measures  Patient reported outcomes  for publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The impact of genetic intellectual disability (GID) on daily life is significant. To better understand the impact of GID, it is essential to measure relevant patient reported outcomes (PROs). The aim of this study is to provide an overview of PROs used for individuals with GID, laying the groundwork for a future generic core PRO set for GID. METHODS: To identify PROs used for individuals with GID, results of two literature reviews were integrated; (1) PROs extracted from a scoping review on outcomes in clinical trials, and (2) PROs identified from a scoping review on core outcome sets (COSs) for specific GIDs through a search in MEDLINE (Ovid), PsycINFO, Embase, and the COMET database. Descriptive analyses were performed. RESULTS: In the first scoping review, 66 different PROs were identified. In the second scoping review, 22 different PROs were identified. After integrating PROs, 18 unique PROs remained, which were classified into a conceptual framework. Most frequently reported PROs were quality of life, perceived health, cognitive functioning, anxiety/stress, and depressive symptoms. CONCLUSION: This study provides an overview of PROs used for individuals with GID. These results will assist in developing a generic core PRO set for GID, to harmonize PROs used in care and research. En ligne : https://dx.doi.org/10.1186/s11689-025-09633-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review / Stephanie VANCLOOSTER in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review Type de document : texte imprimé Auteurs : Stephanie VANCLOOSTER, Auteur ; Stacey BISSELL, Auteur ; Agnies M. VAN EEGHEN, Auteur ; Nola CHAMBERS, Auteur ; Liesbeth DE WAELE, Auteur ; Anna W. BYARS, Auteur ; Jamie K. CAPAL, Auteur ; Sebastián CUKIER, Auteur ; Peter DAVIS, Auteur ; Jennifer FLINN, Auteur ; Sugnet GARDNER-LUBBE, Auteur ; Tanjala GIPSON, Auteur ; Tosca-Marie HEUNIS, Auteur ; Dena HOOK, Auteur ; J. Christopher KINGSWOOD, Auteur ; Darcy A. KRUEGER, Auteur ; Aubrey J. KUMM, Auteur ; Mustafa SAHIN, Auteur ; Eva SCHOETERS, Auteur ; Catherine SMITH, Auteur ; Shoba SRIVASTAVA, Auteur ; Megumi TAKEI, Auteur ; Robert WALTEREIT, Auteur ; Anna C. JANSEN, Auteur ; Petrus J. DE VRIES, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Aged  Autism Spectrum Disorder  Cohort Studies  Humans  Tuberous Sclerosis/complications/psychology  Autism  Behaviour  Intellectual  Neuropsychological  Psychiatric  Psychosocial  Scholastic  Scoping review  TSC-associated neuropsychiatric disorders  Tuberous sclerosis complex  syndromes, including TSC. PD receives partial salary support from the NIH for  participation in studies related to TSC, as well as from Aucta Pharmaceuticals  for a study of topical sirolimus for facial angiofibromas in TSC and Marinus  Pharmaceuticals for a study of ganaxolone for TSC-related epilepsy. DAK reports  grants from National Institutes of Health (NINDS) during the conduct of the study  as well as the personal fees from Novartis Pharmaceuticals, personal fees from  Greenwich Bioscience, grants from Marinus Pharmaceuticals, personal fees from  Nobelpharma America, personal fees from REGENXBIO, and grants and non-financial  support from TSC Alliance outside the submitted work. CS receives salary support  from the TSC Alliance, a non-profit organisation which reports revenue from  individual donors and corporations including Greenwich Biosciences, GW Pharma,  Mallinckrodt, Nobelpharma, Novartis, Ovid, UCB and Upsher-Smith. PJdV was a study  steering committee member of three phase III trials sponsored by Novartis. He and  AJ were also on the scientific advisory group of the TOSCA international disease  registry sponsored by Novartis. MS reports grant support from Novartis, Biogen,  Astellas, Aeovian, Bridgebio and Aucta, and has served on Scientific Advisory  Boards for Novartis, Roche, Regenxbio, SpringWorks Therapeutics, Jaguar  Therapeutics and Alkermes. Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of TSC. Although TAND affects 90% of individuals with TSC during their lifetime, these manifestations are relatively under-assessed, under-treated and under-researched. We performed a comprehensive scoping review of all TAND research to date (a) to describe the existing TAND research landscape and (b) to identify knowledge gaps to guide future TAND research. METHODS: The study was conducted in accordance with stages outlined within the Arksey and O'Malley scoping review framework. Ten research questions relating to study characteristics, research design and research content of TAND levels and clusters were examined. RESULTS: Of the 2841 returned searches, 230 articles published between 1987 and 2020 were included (animal studies = 30, case studies = 47, cohort studies = 153), with more than half published since the term TAND was coined in 2012 (118/230; 51%). Cohort studies largely involved children and/or adolescents (63%) as opposed to older adults (16%). Studies were represented across 341 individual research sites from 45 countries, the majority from the USA (89/341; 26%) and the UK (50/341; 15%). Only 48 research sites (14%) were within low-middle income countries (LMICs). Animal studies and case studies were of relatively high/high quality, but cohort studies showed significant variability. Of the 153 cohort studies, only 16 (10%) included interventions. None of these were non-pharmacological, and only 13 employed remote methodologies (e.g. telephone interviews, online surveys). Of all TAND clusters, the autism spectrum disorder-like cluster was the most widely researched (138/230; 60%) and the scholastic cluster the least (53/200; 27%). CONCLUSIONS: Despite the recent increase in TAND research, studies that represent participants across the lifespan, LMIC research sites and non-pharmacological interventions were identified as future priorities. The quality of cohort studies requires improvement, to which the use of standardised direct behavioural assessments may contribute. In human studies, the academic level in particular warrants further investigation. Remote technologies could help to address many of the TAND knowledge gaps identified. En ligne : https://dx.doi.org/10.1186/s11689-022-09423-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review [texte imprimé] / Stephanie VANCLOOSTER, Auteur ; Stacey BISSELL, Auteur ; Agnies M. VAN EEGHEN, Auteur ; Nola CHAMBERS, Auteur ; Liesbeth DE WAELE, Auteur ; Anna W. BYARS, Auteur ; Jamie K. CAPAL, Auteur ; Sebastián CUKIER, Auteur ; Peter DAVIS, Auteur ; Jennifer FLINN, Auteur ; Sugnet GARDNER-LUBBE, Auteur ; Tanjala GIPSON, Auteur ; Tosca-Marie HEUNIS, Auteur ; Dena HOOK, Auteur ; J. Christopher KINGSWOOD, Auteur ; Darcy A. KRUEGER, Auteur ; Aubrey J. KUMM, Auteur ; Mustafa SAHIN, Auteur ; Eva SCHOETERS, Auteur ; Catherine SMITH, Auteur ; Shoba SRIVASTAVA, Auteur ; Megumi TAKEI, Auteur ; Robert WALTEREIT, Auteur ; Anna C. JANSEN, Auteur ; Petrus J. DE VRIES, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Adolescent  Aged  Autism Spectrum Disorder  Cohort Studies  Humans  Tuberous Sclerosis/complications/psychology  Autism  Behaviour  Intellectual  Neuropsychological  Psychiatric  Psychosocial  Scholastic  Scoping review  TSC-associated neuropsychiatric disorders  Tuberous sclerosis complex  syndromes, including TSC. PD receives partial salary support from the NIH for  participation in studies related to TSC, as well as from Aucta Pharmaceuticals  for a study of topical sirolimus for facial angiofibromas in TSC and Marinus  Pharmaceuticals for a study of ganaxolone for TSC-related epilepsy. DAK reports  grants from National Institutes of Health (NINDS) during the conduct of the study  as well as the personal fees from Novartis Pharmaceuticals, personal fees from  Greenwich Bioscience, grants from Marinus Pharmaceuticals, personal fees from  Nobelpharma America, personal fees from REGENXBIO, and grants and non-financial  support from TSC Alliance outside the submitted work. CS receives salary support  from the TSC Alliance, a non-profit organisation which reports revenue from  individual donors and corporations including Greenwich Biosciences, GW Pharma,  Mallinckrodt, Nobelpharma, Novartis, Ovid, UCB and Upsher-Smith. PJdV was a study  steering committee member of three phase III trials sponsored by Novartis. He and  AJ were also on the scientific advisory group of the TOSCA international disease  registry sponsored by Novartis. MS reports grant support from Novartis, Biogen,  Astellas, Aeovian, Bridgebio and Aucta, and has served on Scientific Advisory  Boards for Novartis, Roche, Regenxbio, SpringWorks Therapeutics, Jaguar  Therapeutics and Alkermes. Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of TSC. Although TAND affects 90% of individuals with TSC during their lifetime, these manifestations are relatively under-assessed, under-treated and under-researched. We performed a comprehensive scoping review of all TAND research to date (a) to describe the existing TAND research landscape and (b) to identify knowledge gaps to guide future TAND research. METHODS: The study was conducted in accordance with stages outlined within the Arksey and O'Malley scoping review framework. Ten research questions relating to study characteristics, research design and research content of TAND levels and clusters were examined. RESULTS: Of the 2841 returned searches, 230 articles published between 1987 and 2020 were included (animal studies = 30, case studies = 47, cohort studies = 153), with more than half published since the term TAND was coined in 2012 (118/230; 51%). Cohort studies largely involved children and/or adolescents (63%) as opposed to older adults (16%). Studies were represented across 341 individual research sites from 45 countries, the majority from the USA (89/341; 26%) and the UK (50/341; 15%). Only 48 research sites (14%) were within low-middle income countries (LMICs). Animal studies and case studies were of relatively high/high quality, but cohort studies showed significant variability. Of the 153 cohort studies, only 16 (10%) included interventions. None of these were non-pharmacological, and only 13 employed remote methodologies (e.g. telephone interviews, online surveys). Of all TAND clusters, the autism spectrum disorder-like cluster was the most widely researched (138/230; 60%) and the scholastic cluster the least (53/200; 27%). CONCLUSIONS: Despite the recent increase in TAND research, studies that represent participants across the lifespan, LMIC research sites and non-pharmacological interventions were identified as future priorities. The quality of cohort studies requires improvement, to which the use of standardised direct behavioural assessments may contribute. In human studies, the academic level in particular warrants further investigation. Remote technologies could help to address many of the TAND knowledge gaps identified. En ligne : https://dx.doi.org/10.1186/s11689-022-09423-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

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