Age of autism diagnosis in Latin American and Caribbean countries / Maria C. MONTENEGRO ; Ana C. RAMIREZ ; Daniel VALDEZ ; Analia ROSOLI ; Ricardo GARCIA ; Gabriela GARRIDO ; Sebastián CUKIER ; Alexia RATTAZZI ; Cristiane S. PAULA in Autism, 28-1 (January 2024)  

Public ISBD [article]  inAutism > 28-1 (January 2024) . - p.58?72 Titre : Age of autism diagnosis in Latin American and Caribbean countries Type de document : texte imprimé Auteurs : Maria C. MONTENEGRO, Auteur ; Ana C. RAMIREZ, Auteur ; Daniel VALDEZ, Auteur ; Analia ROSOLI, Auteur ; Ricardo GARCIA, Auteur ; Gabriela GARRIDO, Auteur ; Sebastián CUKIER, Auteur ; Alexia RATTAZZI, Auteur ; Cristiane S. PAULA, Auteur Article en page(s) : p.58?72 Mots-clés : age of diagnosis  autism spectrum disorders  caregivers  first observed concerns  Latin America  risk factors Index. décimale : PER Périodiques Résumé : An earlier diagnosis of autism spectrum disorder might lead to an earlier intervention, yet knowledge and awareness of autism spectrum disorder in Latin America and Caribbean Countries are limited. A later autism spectrum disorder diagnosis has been associated with negative consequences, as it might imply later access to services. This study aims to identify factors associated with the age of autism spectrum disorder diagnosis as reported by 2520 caregivers of autistic children from six Latin America and Caribbean Countries. Results indicate that on average, caregivers were concerned about their child?s development by 22 months of age; however, the diagnosis was 24 months later. Current age of autistic individuals, better language abilities, and having public health coverage increased the age of diagnosis. On the contrary, the presence of medical comorbidities, severity level, and type of diagnosis decreased the age of diagnosis. The age of diagnosis of autistic individuals in Latin America and Caribbean Countries corresponded to the start of formal schooling despite a much earlier age of first noticed developmental concern, highlighting the need to reduce this age gap and increase children s probability of benefiting from early intervention. Taken together, autism spectrum disorder personal/clinical characteristics and access to health service are the main determinants for the age of diagnosis. Lay abstract An earlier diagnosis of autism spectrum disorder might lead to earlier intervention. However, people living in Latin American and Caribbean countries do not have much knowledge about autism spectrum disorder symptoms. It has been suggested that the older a child is when diagnosed, the fewer opportunities he or she will have to receive services. We asked 2520 caregivers of autistic children in six different Latin America and Caribbean Countries, the child?s age when they noticed some developmental delays and their child?s age when they received their first autism spectrum disorder diagnosis. Results indicate that, on average, caregivers were concerned about their child?s development by 22 months of age; however, the diagnosis was received when the child was 46 months of age. In addition, older children with better language abilities and public health coverage (opposed to private health coverage) were diagnosed later. On the contrary, children with other medical problems and more severe behaviors received an earlier diagnosis. In our study, children were diagnosed around the time they entered formal schooling, delaying the access to early intervention programs. In summary, the characteristics of the autistic person and the type of health coverage influence the age of diagnosis in children living in Latin America and Caribbean Countries. En ligne : https://dx.doi.org/10.1177/13623613221147345 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=519 [article] Age of autism diagnosis in Latin American and Caribbean countries [texte imprimé] / Maria C. MONTENEGRO, Auteur ; Ana C. RAMIREZ, Auteur ; Daniel VALDEZ, Auteur ; Analia ROSOLI, Auteur ; Ricardo GARCIA, Auteur ; Gabriela GARRIDO, Auteur ; Sebastián CUKIER, Auteur ; Alexia RATTAZZI, Auteur ; Cristiane S. PAULA, Auteur . - p.58?72. in Autism > 28-1 (January 2024) . - p.58?72 Mots-clés : age of diagnosis  autism spectrum disorders  caregivers  first observed concerns  Latin America  risk factors Index. décimale : PER Périodiques Résumé : An earlier diagnosis of autism spectrum disorder might lead to an earlier intervention, yet knowledge and awareness of autism spectrum disorder in Latin America and Caribbean Countries are limited. A later autism spectrum disorder diagnosis has been associated with negative consequences, as it might imply later access to services. This study aims to identify factors associated with the age of autism spectrum disorder diagnosis as reported by 2520 caregivers of autistic children from six Latin America and Caribbean Countries. Results indicate that on average, caregivers were concerned about their child?s development by 22 months of age; however, the diagnosis was 24 months later. Current age of autistic individuals, better language abilities, and having public health coverage increased the age of diagnosis. On the contrary, the presence of medical comorbidities, severity level, and type of diagnosis decreased the age of diagnosis. The age of diagnosis of autistic individuals in Latin America and Caribbean Countries corresponded to the start of formal schooling despite a much earlier age of first noticed developmental concern, highlighting the need to reduce this age gap and increase children s probability of benefiting from early intervention. Taken together, autism spectrum disorder personal/clinical characteristics and access to health service are the main determinants for the age of diagnosis. Lay abstract An earlier diagnosis of autism spectrum disorder might lead to earlier intervention. However, people living in Latin American and Caribbean countries do not have much knowledge about autism spectrum disorder symptoms. It has been suggested that the older a child is when diagnosed, the fewer opportunities he or she will have to receive services. We asked 2520 caregivers of autistic children in six different Latin America and Caribbean Countries, the child?s age when they noticed some developmental delays and their child?s age when they received their first autism spectrum disorder diagnosis. Results indicate that, on average, caregivers were concerned about their child?s development by 22 months of age; however, the diagnosis was received when the child was 46 months of age. In addition, older children with better language abilities and public health coverage (opposed to private health coverage) were diagnosed later. On the contrary, children with other medical problems and more severe behaviors received an earlier diagnosis. In our study, children were diagnosed around the time they entered formal schooling, delaying the access to early intervention programs. In summary, the characteristics of the autistic person and the type of health coverage influence the age of diagnosis in children living in Latin America and Caribbean Countries. En ligne : https://dx.doi.org/10.1177/13623613221147345 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=519

Caregiver-centred empowerment for families raising autistic children: A qualitative case study from Argentina / Zsófia SZLAMKA in Autism, 28-11 (November 2024)  

Public ISBD [article]  inAutism > 28-11 (November 2024) . - p.2768 - 2778 Titre : Caregiver-centred empowerment for families raising autistic children: A qualitative case study from Argentina Type de document : texte imprimé Auteurs : Zsófia SZLAMKA, Auteur ; Sebastián CUKIER, Auteur ; Charlotte HANLON, Auteur ; Rosa A. HOEKSTRA, Auteur Article en page(s) : p.2768 - 2778 Langues : Anglais (eng) Mots-clés : advocacy  Argentina  autism spectrum disorder  developmental disabilities  empowerment Index. décimale : PER Périodiques Résumé : Autistic children and their caregivers in Argentina often lack access to information, resources and evidence-based interventions. Caregiver empowerment may help support families to uphold their child?s rights and access suitable education and support. This study aimed to examine the perceptions on empowerment of caregivers of autistic children in Argentina. This was a phenomenological, qualitative study. We conducted 32 semi-structured individual interviews remotely. Participants included caregivers, health service providers, non-governmental organisation representatives, special education teachers and policy representatives. Data were analysed thematically. We developed three main themes: Caregiver agency: from intuitive coping strategies to entrepreneurship; 'I had to cut down on therapy': Economic instability and inequality affecting service access; and Equipping caregivers to be empowered. Both caregivers and professionals talked about the contribution of socio-economic inequalities to caregivers' sense of disempowerment. Caregivers identified coping strategies and discussed their experiences with advocacy. They expressed that in-person and online support groups have an empowering effect. Based on participant views, strategies supporting caregiver empowerment may involve: interventions are co-designed by professionals and caregivers; focusing on caregiver mental health; and addressing the profound impact of poverty on the quality of life of families. Lay abstract Caregivers of children with developmental disabilities, including autism, often struggle to access services, information and resources in Argentina. Little is known about how caregivers can be empowered to support their children as they wish to in the Argentinian setting. We spoke with 32 people online to understand existing and potential practices of supporting caregivers. The people we spoke with included caregivers, health service providers, non-governmental organisations' representatives providing services or technical support, special education teachers and policy representatives. Participants said that poverty, and inequalities in accessing support, impact how caregivers can support their children. They mentioned examples that help caregivers feel empowered, such as peer support groups and caregiver training. Many caregivers spoke about how they became advocates for their children and how they developed initiatives such as advocacy campaigns and well-being support groups. Caregivers in Argentina may be empowered in various ways, and the following strategies can improve empowerment: strengthening collaboration between professionals and caregivers; focusing on caregiver mental health; and addressing the profound impact of poverty on the quality of life of families. En ligne : https://dx.doi.org/10.1177/13623613241238254 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=537 [article] Caregiver-centred empowerment for families raising autistic children: A qualitative case study from Argentina [texte imprimé] / Zsófia SZLAMKA, Auteur ; Sebastián CUKIER, Auteur ; Charlotte HANLON, Auteur ; Rosa A. HOEKSTRA, Auteur . - p.2768 - 2778. Langues : Anglais (eng) in Autism > 28-11 (November 2024) . - p.2768 - 2778 Mots-clés : advocacy  Argentina  autism spectrum disorder  developmental disabilities  empowerment Index. décimale : PER Périodiques Résumé : Autistic children and their caregivers in Argentina often lack access to information, resources and evidence-based interventions. Caregiver empowerment may help support families to uphold their child?s rights and access suitable education and support. This study aimed to examine the perceptions on empowerment of caregivers of autistic children in Argentina. This was a phenomenological, qualitative study. We conducted 32 semi-structured individual interviews remotely. Participants included caregivers, health service providers, non-governmental organisation representatives, special education teachers and policy representatives. Data were analysed thematically. We developed three main themes: Caregiver agency: from intuitive coping strategies to entrepreneurship; 'I had to cut down on therapy': Economic instability and inequality affecting service access; and Equipping caregivers to be empowered. Both caregivers and professionals talked about the contribution of socio-economic inequalities to caregivers' sense of disempowerment. Caregivers identified coping strategies and discussed their experiences with advocacy. They expressed that in-person and online support groups have an empowering effect. Based on participant views, strategies supporting caregiver empowerment may involve: interventions are co-designed by professionals and caregivers; focusing on caregiver mental health; and addressing the profound impact of poverty on the quality of life of families. Lay abstract Caregivers of children with developmental disabilities, including autism, often struggle to access services, information and resources in Argentina. Little is known about how caregivers can be empowered to support their children as they wish to in the Argentinian setting. We spoke with 32 people online to understand existing and potential practices of supporting caregivers. The people we spoke with included caregivers, health service providers, non-governmental organisations' representatives providing services or technical support, special education teachers and policy representatives. Participants said that poverty, and inequalities in accessing support, impact how caregivers can support their children. They mentioned examples that help caregivers feel empowered, such as peer support groups and caregiver training. Many caregivers spoke about how they became advocates for their children and how they developed initiatives such as advocacy campaigns and well-being support groups. Caregivers in Argentina may be empowered in various ways, and the following strategies can improve empowerment: strengthening collaboration between professionals and caregivers; focusing on caregiver mental health; and addressing the profound impact of poverty on the quality of life of families. En ligne : https://dx.doi.org/10.1177/13623613241238254 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=537

Challenges, priorities, barriers to care, and stigma in families of people with autism: Similarities and differences among six Latin American countries / Cristiane S. PAULA in Autism, 24-8 (November 2020)  

Public ISBD [article]  inAutism > 24-8 (November 2020) . - p.2228-2242 Titre : Challenges, priorities, barriers to care, and stigma in families of people with autism: Similarities and differences among six Latin American countries Type de document : texte imprimé Auteurs : Cristiane S. PAULA, Auteur ; Sebastián CUKIER, Auteur ; Graccielle Rodrigues CUNHA, Auteur ; Matías IRARRÁZAVAL, Auteur ; Cecilia MONTIEL-NAVA, Auteur ; Ricardo GARCIA, Auteur ; Analia ROSOLI, Auteur ; Daniel VALDEZ, Auteur ; Daniela BORDINI, Auteur ; Andy SHIH, Auteur ; Gabriela GARRIDO, Auteur ; Alexia RATTAZZI, Auteur Article en page(s) : p.2228-2242 Langues : Anglais (eng) Mots-clés : *autism  *economic costs  *healthcare utilization  *stigma  *treatment barriers Index. décimale : PER Périodiques Résumé : Approximately 6 million individuals with autism spectrum disorder live in Latin America. In order to strengthen autism spectrum disorder research collaborations and awareness in the region, the Latin American Autism Spectrum Network (Red Espectro Autista Latinoamerica) was constituted in 2015, comprising researchers and clinicians from the following six countries: Brazil Argentina, Chile, Uruguay, Venezuela, and the Dominican Republic. This first multisite study from the Red Espectro Autista Latinoamerica network aims to describe the challenges and priorities to identify barriers to care and to map stigma among families of individuals with autism spectrum disorder living in Latin America. A total of 2942 caregivers from these six countries completed an online survey showing that the main priorities were greater community awareness and improvements in the educational system for individuals with autism spectrum disorder. In addition to that, the main barriers to care were related to lack of structure, mainly waiting lists (50.2%), high treatment costs (35.2%), and lack of specialized services (26.1%). Stigma experienced by families was frequent: one third reported feeling discriminated against and helpless for having a child with autism spectrum disorder. Also, 48.8% of the caregivers declared financial problems, 47.4% of them had to cut down work hours, and 35.5% had to leave their jobs because of their child's autism spectrum disorder. This is a pioneer study providing a description of the needs and challenges faced by families affected by autism spectrum disorder in Latin America, helping to build data-driven strategies at the national and regional levels. En ligne : http://dx.doi.org/10.1177/1362361320940073 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=431 [article] Challenges, priorities, barriers to care, and stigma in families of people with autism: Similarities and differences among six Latin American countries [texte imprimé] / Cristiane S. PAULA, Auteur ; Sebastián CUKIER, Auteur ; Graccielle Rodrigues CUNHA, Auteur ; Matías IRARRÁZAVAL, Auteur ; Cecilia MONTIEL-NAVA, Auteur ; Ricardo GARCIA, Auteur ; Analia ROSOLI, Auteur ; Daniel VALDEZ, Auteur ; Daniela BORDINI, Auteur ; Andy SHIH, Auteur ; Gabriela GARRIDO, Auteur ; Alexia RATTAZZI, Auteur . - p.2228-2242. Langues : Anglais (eng) in Autism > 24-8 (November 2020) . - p.2228-2242 Mots-clés : *autism  *economic costs  *healthcare utilization  *stigma  *treatment barriers Index. décimale : PER Périodiques Résumé : Approximately 6 million individuals with autism spectrum disorder live in Latin America. In order to strengthen autism spectrum disorder research collaborations and awareness in the region, the Latin American Autism Spectrum Network (Red Espectro Autista Latinoamerica) was constituted in 2015, comprising researchers and clinicians from the following six countries: Brazil Argentina, Chile, Uruguay, Venezuela, and the Dominican Republic. This first multisite study from the Red Espectro Autista Latinoamerica network aims to describe the challenges and priorities to identify barriers to care and to map stigma among families of individuals with autism spectrum disorder living in Latin America. A total of 2942 caregivers from these six countries completed an online survey showing that the main priorities were greater community awareness and improvements in the educational system for individuals with autism spectrum disorder. In addition to that, the main barriers to care were related to lack of structure, mainly waiting lists (50.2%), high treatment costs (35.2%), and lack of specialized services (26.1%). Stigma experienced by families was frequent: one third reported feeling discriminated against and helpless for having a child with autism spectrum disorder. Also, 48.8% of the caregivers declared financial problems, 47.4% of them had to cut down work hours, and 35.5% had to leave their jobs because of their child's autism spectrum disorder. This is a pioneer study providing a description of the needs and challenges faced by families affected by autism spectrum disorder in Latin America, helping to build data-driven strategies at the national and regional levels. En ligne : http://dx.doi.org/10.1177/1362361320940073 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=431

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

Organization of brain networks governed by long-range connections index autistic traits in the general population / Pablo BARTTFELD in Journal of Neurodevelopmental Disorders, 5-1 (December 2013)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.16 Titre : Organization of brain networks governed by long-range connections index autistic traits in the general population Type de document : texte imprimé Auteurs : Pablo BARTTFELD, Auteur ; Lucia AMORUSO, Auteur ; Joaquín AIS, Auteur ; Sebastián CUKIER, Auteur ; Luz BAVASSI, Auteur ; Ailin TOMIO, Auteur ; Facundo MANES, Auteur ; Agustín IBANEZ, Auteur ; Marian SIGMAN, Auteur Article en page(s) : p.16 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: The dimensional approach to autism spectrum disorder (ASD) considers ASD as the extreme of a dimension traversing through the entire population. We explored the potential utility of electroencephalography (EEG) functional connectivity as a biomarker. We hypothesized that individual differences in autistic traits of typical subjects would involve a long-range connectivity diminution within the delta band. METHODS: Resting-state EEG functional connectivity was measured for 74 neurotypical subjects. All participants also provided a questionnaire (Social Responsiveness Scale, SRS) that was completed by an informant who knows the participant in social settings. We conducted multivariate regression between the SRS score and functional connectivity in all EEG frequency bands. We explored modulations of network graph metrics characterizing the optimality of a network using the SRS score. RESULTS: Our results show a decay in functional connectivity mainly within the delta and theta bands (the lower part of the EEG spectrum) associated with an increasing number of autistic traits. When inspecting the impact of autistic traits on the global organization of the functional network, we found that the optimal properties of the network are inversely related to the number of autistic traits, suggesting that the autistic dimension, throughout the entire population, modulates the efficiency of functional brain networks. CONCLUSIONS: EEG functional connectivity at low frequencies and its associated network properties may be associated with some autistic traits in the general population. En ligne : http://dx.doi.org/10.1186/1866-1955-5-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345 [article] Organization of brain networks governed by long-range connections index autistic traits in the general population [texte imprimé] / Pablo BARTTFELD, Auteur ; Lucia AMORUSO, Auteur ; Joaquín AIS, Auteur ; Sebastián CUKIER, Auteur ; Luz BAVASSI, Auteur ; Ailin TOMIO, Auteur ; Facundo MANES, Auteur ; Agustín IBANEZ, Auteur ; Marian SIGMAN, Auteur . - p.16. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.16 Index. décimale : PER Périodiques Résumé : BACKGROUND: The dimensional approach to autism spectrum disorder (ASD) considers ASD as the extreme of a dimension traversing through the entire population. We explored the potential utility of electroencephalography (EEG) functional connectivity as a biomarker. We hypothesized that individual differences in autistic traits of typical subjects would involve a long-range connectivity diminution within the delta band. METHODS: Resting-state EEG functional connectivity was measured for 74 neurotypical subjects. All participants also provided a questionnaire (Social Responsiveness Scale, SRS) that was completed by an informant who knows the participant in social settings. We conducted multivariate regression between the SRS score and functional connectivity in all EEG frequency bands. We explored modulations of network graph metrics characterizing the optimality of a network using the SRS score. RESULTS: Our results show a decay in functional connectivity mainly within the delta and theta bands (the lower part of the EEG spectrum) associated with an increasing number of autistic traits. When inspecting the impact of autistic traits on the global organization of the functional network, we found that the optimal properties of the network are inversely related to the number of autistic traits, suggesting that the autistic dimension, throughout the entire population, modulates the efficiency of functional brain networks. CONCLUSIONS: EEG functional connectivity at low frequencies and its associated network properties may be associated with some autistic traits in the general population. En ligne : http://dx.doi.org/10.1186/1866-1955-5-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345

Service encounters across the lifespan in individuals with autism spectrum disorders: Results from a multisite study in Latin America / Cecilia MONTIEL-NAVA in Research in Autism Spectrum Disorders, 79 (November 2020)  

Permalink

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

Permalink

Use of allied-health services and medication among adults with ASD in Latin America / Andy TORRES in Autism Research, 14-10 (October 2021)  

Permalink

---

1 (1 - 8 / 8) Par page : 25 50 100 200