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Auteur A. EPSTEIN |
Documents disponibles écrits par cet auteur (2)
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Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study / J. MACKAY in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study Type de document : Texte imprimé et/ou numérique Auteurs : J. MACKAY, Auteur ; J. DOWNS, Auteur ; K. WONG, Auteur ; J. HEYWORTH, Auteur ; A. EPSTEIN, Auteur ; H. LEONARD, Auteur Article en page(s) : p.15 Langues : Anglais (eng) Mots-clés : Breathing disorders Developmental disability Genotype International database Mecp2 Rare disorder Rett syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder associated with mutations in the MECP2 gene. Irregular breathing patterns and abdominal bloating are prominent but poorly understood features. Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. METHODS: We invited previously recruited families from the International Rett Syndrome Study to complete a web-based questionnaire concerning their family member with Rett syndrome aged between 2 and 57 years. We used logistic regression to investigate presence, frequency and impact of breath-holding, hyperventilation, or abdominal bloating by age group and mutation type. Age of onset for both breathing abnormalities was investigated using time-to-onset analysis, and the Kaplan-Meier method was used to estimate the failure function for the study sample. Descriptive statistics were used to characterize the management of irregular breathing. RESULTS: Questionnaires were returned by 413/482 (85.7%) families. Breath-holding was reported for 68.8%, hyperventilation for 46.4% and abdominal bloating for 42.4%. Hyperventilation was more prevalent and frequent in those younger than 7 years of age and abdominal bloating in those aged over 20 years. Onset of breathing irregularities usually occurred during early childhood. Caregivers perceived that daily life was considerably impacted for almost half (44.1%) of those with abdominal bloating and in just over than a third of those with breath-holding (35.8%) or hyperventilation (35.1%). Although perceived impact was broadly comparable between age and mutation groups for breath-holding, hyperventilation and abdominal bloating, girls and women with a p.Arg294* mutation were considered to be more affected by all three conditions. Only 31 individuals had received medically prescribed treatments including 12 different medications, added oxygen, rebreathing apparatus or non-invasive ventilation. CONCLUSIONS: Autonomic disturbances are prevalent and burdensome in Rett syndrome. This information may guide the design of inclusion criteria and outcome measures for clinical intervention trials targeting autonomic abnormalities. Further investigation of available treatments is necessary to delineate evidence-based management pathways. En ligne : http://dx.doi.org/10.1186/s11689-017-9196-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.15[article] Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study [Texte imprimé et/ou numérique] / J. MACKAY, Auteur ; J. DOWNS, Auteur ; K. WONG, Auteur ; J. HEYWORTH, Auteur ; A. EPSTEIN, Auteur ; H. LEONARD, Auteur . - p.15.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.15
Mots-clés : Breathing disorders Developmental disability Genotype International database Mecp2 Rare disorder Rett syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder associated with mutations in the MECP2 gene. Irregular breathing patterns and abdominal bloating are prominent but poorly understood features. Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. METHODS: We invited previously recruited families from the International Rett Syndrome Study to complete a web-based questionnaire concerning their family member with Rett syndrome aged between 2 and 57 years. We used logistic regression to investigate presence, frequency and impact of breath-holding, hyperventilation, or abdominal bloating by age group and mutation type. Age of onset for both breathing abnormalities was investigated using time-to-onset analysis, and the Kaplan-Meier method was used to estimate the failure function for the study sample. Descriptive statistics were used to characterize the management of irregular breathing. RESULTS: Questionnaires were returned by 413/482 (85.7%) families. Breath-holding was reported for 68.8%, hyperventilation for 46.4% and abdominal bloating for 42.4%. Hyperventilation was more prevalent and frequent in those younger than 7 years of age and abdominal bloating in those aged over 20 years. Onset of breathing irregularities usually occurred during early childhood. Caregivers perceived that daily life was considerably impacted for almost half (44.1%) of those with abdominal bloating and in just over than a third of those with breath-holding (35.8%) or hyperventilation (35.1%). Although perceived impact was broadly comparable between age and mutation groups for breath-holding, hyperventilation and abdominal bloating, girls and women with a p.Arg294* mutation were considered to be more affected by all three conditions. Only 31 individuals had received medically prescribed treatments including 12 different medications, added oxygen, rebreathing apparatus or non-invasive ventilation. CONCLUSIONS: Autonomic disturbances are prevalent and burdensome in Rett syndrome. This information may guide the design of inclusion criteria and outcome measures for clinical intervention trials targeting autonomic abnormalities. Further investigation of available treatments is necessary to delineate evidence-based management pathways. En ligne : http://dx.doi.org/10.1186/s11689-017-9196-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 Parent-observed thematic data on quality of life in children with autism spectrum disorder / A. EPSTEIN in Autism, 23-1 (January 2019)
[article]
Titre : Parent-observed thematic data on quality of life in children with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : A. EPSTEIN, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; K. WILLIAMS, Auteur ; N. MURPHY, Auteur ; H. LEONARD, Auteur ; E. DAVIS, Auteur ; D. REDDIHOUGH, Auteur ; J. DOWNS, Auteur Article en page(s) : p.71-80 Langues : Anglais (eng) Mots-clés : autism spectrum disorders intellectual disability neurodevelopmental disability qualitative research quality of life well-being cerebral-palsy health adolescents symptoms youth proxy Psychology Index. décimale : PER Périodiques Résumé : Domains of quality of life in children with autism spectrum disorder have not previously been explored and there has been no quality of life measure developed for this population. Our study investigated parent observations to identify the domains important to children with autism spectrum disorder who also had an intellectual disability. In all, 21 parents (19 mothers, 2 fathers) of children with autism spectrum disorder (aged 6-17 years) participated in a qualitative study to discuss their child's quality of life. Thematic analysis using a grounded theory framework was conducted and 10 domains emerged in relation to health and well-being, capacity to perform and develop skills in daily life, and connections with the community and environment. Unique aspects of quality of life included varying levels of social desire, consistency of routines, and time spent in nature and the outdoors, which are not comprehensively captured in existing measures. Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder and support the development of a new measure for this population. En ligne : http://dx.doi.org/10.1177/1362361317722764 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=379
in Autism > 23-1 (January 2019) . - p.71-80[article] Parent-observed thematic data on quality of life in children with autism spectrum disorder [Texte imprimé et/ou numérique] / A. EPSTEIN, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; K. WILLIAMS, Auteur ; N. MURPHY, Auteur ; H. LEONARD, Auteur ; E. DAVIS, Auteur ; D. REDDIHOUGH, Auteur ; J. DOWNS, Auteur . - p.71-80.
Langues : Anglais (eng)
in Autism > 23-1 (January 2019) . - p.71-80
Mots-clés : autism spectrum disorders intellectual disability neurodevelopmental disability qualitative research quality of life well-being cerebral-palsy health adolescents symptoms youth proxy Psychology Index. décimale : PER Périodiques Résumé : Domains of quality of life in children with autism spectrum disorder have not previously been explored and there has been no quality of life measure developed for this population. Our study investigated parent observations to identify the domains important to children with autism spectrum disorder who also had an intellectual disability. In all, 21 parents (19 mothers, 2 fathers) of children with autism spectrum disorder (aged 6-17 years) participated in a qualitative study to discuss their child's quality of life. Thematic analysis using a grounded theory framework was conducted and 10 domains emerged in relation to health and well-being, capacity to perform and develop skills in daily life, and connections with the community and environment. Unique aspects of quality of life included varying levels of social desire, consistency of routines, and time spent in nature and the outdoors, which are not comprehensively captured in existing measures. Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder and support the development of a new measure for this population. En ligne : http://dx.doi.org/10.1177/1362361317722764 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=379