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Faire une suggestion Affiner la rechercheInternational 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)
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[article]
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
in Journal of Neurodevelopmental Disorders > 15 (2023)[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 The Digital Divide in Technologies for Autism: Feasibility Considerations for Low- and Middle-Income Countries / Aubrey J. KUMM in Journal of Autism and Developmental Disorders, 52-5 (May 2022)
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[article]
Titre : The Digital Divide in Technologies for Autism: Feasibility Considerations for Low- and Middle-Income Countries Type de document : texte imprimé Auteurs : Aubrey J. KUMM, Auteur ; Marisa VILJOEN, Auteur ; Petrus J. DE VRIES, Auteur Article en page(s) : p.2300-2313 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/therapy Autistic Disorder/therapy Covid-19 Developing Countries Digital Divide Feasibility Studies Humans Pandemics Technology Africa Autism spectrum disorder Digital disparities Digital technology India Low-resource contexts Index. décimale : PER Périodiques Résumé : Digital technologies have the potential to empower individuals with autism and their families. The COVID-19 pandemic emphasized and accelerated the drive towards technology for information, communication, training, clinical care and research, also in the autism community. However, 95% of individuals with autism live in low- and middle-income countries (LMIC) where access to electricity, internet and the ever-increasing range of digital devices may be highly limited. The World Bank coined the term 'the digital divide' to describe the disparities in access to digital technologies between high-income and LMIC contexts. Here we evaluated the feasibility of six emerging technologies for autism spectrum disorders, and reflected on key considerations for implementation in LMIC contexts to ensure that we do not inadvertently widen the pre-existing digital divide. En ligne : http://dx.doi.org/10.1007/s10803-021-05084-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476
in Journal of Autism and Developmental Disorders > 52-5 (May 2022) . - p.2300-2313[article] The Digital Divide in Technologies for Autism: Feasibility Considerations for Low- and Middle-Income Countries [texte imprimé] / Aubrey J. KUMM, Auteur ; Marisa VILJOEN, Auteur ; Petrus J. DE VRIES, Auteur . - p.2300-2313.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-5 (May 2022) . - p.2300-2313
Mots-clés : Autism Spectrum Disorder/therapy Autistic Disorder/therapy Covid-19 Developing Countries Digital Divide Feasibility Studies Humans Pandemics Technology Africa Autism spectrum disorder Digital disparities Digital technology India Low-resource contexts Index. décimale : PER Périodiques Résumé : Digital technologies have the potential to empower individuals with autism and their families. The COVID-19 pandemic emphasized and accelerated the drive towards technology for information, communication, training, clinical care and research, also in the autism community. However, 95% of individuals with autism live in low- and middle-income countries (LMIC) where access to electricity, internet and the ever-increasing range of digital devices may be highly limited. The World Bank coined the term 'the digital divide' to describe the disparities in access to digital technologies between high-income and LMIC contexts. Here we evaluated the feasibility of six emerging technologies for autism spectrum disorders, and reflected on key considerations for implementation in LMIC contexts to ensure that we do not inadvertently widen the pre-existing digital divide. En ligne : http://dx.doi.org/10.1007/s10803-021-05084-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review / Stephanie VANCLOOSTER in Journal of Neurodevelopmental Disorders, 14 (2022)
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[article]
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
in Journal of Neurodevelopmental Disorders > 14 (2022)[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

