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Détail de l'auteur
Auteur J. HEYWORTH |
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 Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability / Y. MORI in Journal of Autism and Developmental Disorders, 48-5 (May 2018)
[article]
Titre : Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability Type de document : Texte imprimé et/ou numérique Auteurs : Y. MORI, Auteur ; J. DOWNS, Auteur ; K. WONG, Auteur ; J. HEYWORTH, Auteur ; H. LEONARD, Auteur Article en page(s) : p.1651-1665 Langues : Anglais (eng) Mots-clés : Down syndrome Genetic disorder Intellectual disability Parental well-being Rett syndrome Sf-12 Index. décimale : PER Périodiques Résumé : Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n = 187) and International CDKL5 Disorder (n = 168) Databases. Among 596 mothers (median age, years 43.7; 24.6-72.2), emotional well-being was poorer than general female populations across age groups. Multivariate linear regression identified the poorest well-being in parents of children with the CDKL5 disorder, a rare but severe and complex encephalopathy, and negative associations with increased clinical severity irrespective of diagnosis. These findings are important for those providing healthcare and social services for these populations. En ligne : http://dx.doi.org/10.1007/s10803-017-3420-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=355
in Journal of Autism and Developmental Disorders > 48-5 (May 2018) . - p.1651-1665[article] Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability [Texte imprimé et/ou numérique] / Y. MORI, Auteur ; J. DOWNS, Auteur ; K. WONG, Auteur ; J. HEYWORTH, Auteur ; H. LEONARD, Auteur . - p.1651-1665.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 48-5 (May 2018) . - p.1651-1665
Mots-clés : Down syndrome Genetic disorder Intellectual disability Parental well-being Rett syndrome Sf-12 Index. décimale : PER Périodiques Résumé : Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n = 187) and International CDKL5 Disorder (n = 168) Databases. Among 596 mothers (median age, years 43.7; 24.6-72.2), emotional well-being was poorer than general female populations across age groups. Multivariate linear regression identified the poorest well-being in parents of children with the CDKL5 disorder, a rare but severe and complex encephalopathy, and negative associations with increased clinical severity irrespective of diagnosis. These findings are important for those providing healthcare and social services for these populations. En ligne : http://dx.doi.org/10.1007/s10803-017-3420-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=355