Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study / Jessica MACKAY in Journal of Autism and Developmental Disorders, 52-9 (September 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-9 (September 2022) . - p.3877-3889 Titre : Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study Type de document : texte imprimé Auteurs : Jessica MACKAY, Auteur ; Gillian M. NIXON, Auteur ; Antony R. LAFFERTY, Auteur ; Geoff AMBLER, Auteur ; Nitin KAPUR, Auteur ; Philip B. BERGMAN, Auteur ; Cara SCHOFIELD, Auteur ; Chris SETON, Auteur ; Andrew TAI, Auteur ; Elaine THAM, Auteur ; Komal VORA, Auteur ; Patricia CROCK, Auteur ; Charles VERGE, Auteur ; Yassmin MUSTHAFFA, Auteur ; Greg BLECHER, Auteur ; Daan CAUDRI, Auteur ; Helen LEONARD, Auteur ; Peter JACOBY, Auteur ; Andrew WILSON, Auteur ; Catherine S. CHOONG, Auteur ; Jenny DOWNS, Auteur Article en page(s) : p.3877-3889 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Caregivers  Child  Humans  Hyperphagia  Prader-Willi Syndrome/genetics  Quality of Life  Sleep  Sleep Wake Disorders  Growth hormone  behaviour  Parental well-being  Prader-Willi syndrome Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry (n=50, mean age 11.2 years) to evaluate associations between child behaviours and caregiver mental well-being. Symptoms of sleep-related breathing disorder, child depression and social difficulties were associated with poorer caregiver mental and physical well-being. Growth hormone therapy use was associated with better caregiver mental and physical well-being. Optimising management of problematic behaviours and sleep disturbances have the potential to support caregivers who are the most vital network of support for individuals affected by PWS. En ligne : http://dx.doi.org/10.1007/s10803-021-05265-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485 [article] Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study [texte imprimé] / Jessica MACKAY, Auteur ; Gillian M. NIXON, Auteur ; Antony R. LAFFERTY, Auteur ; Geoff AMBLER, Auteur ; Nitin KAPUR, Auteur ; Philip B. BERGMAN, Auteur ; Cara SCHOFIELD, Auteur ; Chris SETON, Auteur ; Andrew TAI, Auteur ; Elaine THAM, Auteur ; Komal VORA, Auteur ; Patricia CROCK, Auteur ; Charles VERGE, Auteur ; Yassmin MUSTHAFFA, Auteur ; Greg BLECHER, Auteur ; Daan CAUDRI, Auteur ; Helen LEONARD, Auteur ; Peter JACOBY, Auteur ; Andrew WILSON, Auteur ; Catherine S. CHOONG, Auteur ; Jenny DOWNS, Auteur . - p.3877-3889. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-9 (September 2022) . - p.3877-3889 Mots-clés : Autism Spectrum Disorder  Caregivers  Child  Humans  Hyperphagia  Prader-Willi Syndrome/genetics  Quality of Life  Sleep  Sleep Wake Disorders  Growth hormone  behaviour  Parental well-being  Prader-Willi syndrome Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry (n=50, mean age 11.2 years) to evaluate associations between child behaviours and caregiver mental well-being. Symptoms of sleep-related breathing disorder, child depression and social difficulties were associated with poorer caregiver mental and physical well-being. Growth hormone therapy use was associated with better caregiver mental and physical well-being. Optimising management of problematic behaviours and sleep disturbances have the potential to support caregivers who are the most vital network of support for individuals affected by PWS. En ligne : http://dx.doi.org/10.1007/s10803-021-05265-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study / Jessica MACKAY in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.15 Titre : Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study Type de document : texte imprimé Auteurs : Jessica MACKAY, Auteur ; Jenny DOWNS, Auteur ; Kingsley WONG, Auteur ; Jane HEYWORTH, Auteur ; Amy EPSTEIN, Auteur ; Helen 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 [article] Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study [texte imprimé] / Jessica MACKAY, Auteur ; Jenny DOWNS, Auteur ; Kingsley WONG, Auteur ; Jane HEYWORTH, Auteur ; Amy EPSTEIN, Auteur ; Helen 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

Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual Disability / Jenny FAIRTHORNE in Journal of Autism and Developmental Disorders, 46-3 (March 2016)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-3 (March 2016) . - p.1103-1109 Titre : Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual Disability Type de document : texte imprimé Auteurs : Jenny FAIRTHORNE, Auteur ; Nick DE KLERK, Auteur ; Helen LEONARD, Auteur Article en page(s) : p.1103-1109 Langues : Anglais (eng) Mots-clés : Intellectual  Autism  Psychiatric  Maternal  Mothers  Down  Hospitalisation Index. décimale : PER Périodiques Résumé : Compared to other mothers, mothers of children with autism spectrum disorder (ASD) or intellectual disability (ID) have higher rates of treatment episodes for psychiatric disorders. We aimed to estimate the maternal burden of care by comparing the length of hospitalisations for psychiatric disorders and the treatment rates for psychiatric disorders after the birth in mothers of children with ASD/ID and no psychiatric history to that of other mothers with no psychiatric history. Mothers of children with ID of known cause (not Down syndrome) and mothers of children ASD without ID emerged as particularly vulnerable. Mothers of children with Down syndrome were resilient. The development of specialised organisations to provide support to mothers of children with ID of known cause (not Down syndrome) and mothers of children with ASD without ID could assist them to maintain their mental health. En ligne : http://dx.doi.org/10.1007/s10803-015-2629-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282 [article] Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual Disability [texte imprimé] / Jenny FAIRTHORNE, Auteur ; Nick DE KLERK, Auteur ; Helen LEONARD, Auteur . - p.1103-1109. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-3 (March 2016) . - p.1103-1109 Mots-clés : Intellectual  Autism  Psychiatric  Maternal  Mothers  Down  Hospitalisation Index. décimale : PER Périodiques Résumé : Compared to other mothers, mothers of children with autism spectrum disorder (ASD) or intellectual disability (ID) have higher rates of treatment episodes for psychiatric disorders. We aimed to estimate the maternal burden of care by comparing the length of hospitalisations for psychiatric disorders and the treatment rates for psychiatric disorders after the birth in mothers of children with ASD/ID and no psychiatric history to that of other mothers with no psychiatric history. Mothers of children with ID of known cause (not Down syndrome) and mothers of children ASD without ID emerged as particularly vulnerable. Mothers of children with Down syndrome were resilient. The development of specialised organisations to provide support to mothers of children with ID of known cause (not Down syndrome) and mothers of children with ASD without ID could assist them to maintain their mental health. En ligne : http://dx.doi.org/10.1007/s10803-015-2629-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282

Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability / Yuka MORI in Journal of Autism and Developmental Disorders, 48-5 (May 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-5 (May 2018) . - p.1651-1665 Titre : Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability Type de document : texte imprimé Auteurs : Yuka MORI, Auteur ; Jenny DOWNS, Auteur ; Kingsley WONG, Auteur ; Jane HEYWORTH, Auteur ; Helen 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 [article] Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability [texte imprimé] / Yuka MORI, Auteur ; Jenny DOWNS, Auteur ; Kingsley WONG, Auteur ; Jane HEYWORTH, Auteur ; Helen 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

A Comparison of Autism Prevalence Trends in Denmark and Western Australia / Erik T. PARNER in Journal of Autism and Developmental Disorders, 41-12 (December 2011)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-12 (December 2011) . - p.1601-1608 Titre : A Comparison of Autism Prevalence Trends in Denmark and Western Australia Type de document : texte imprimé Auteurs : Erik T. PARNER, Auteur ; Poul THORSEN, Auteur ; Glenys DIXON, Auteur ; Nicholas H. DE KLERK, Auteur ; Helen LEONARD, Auteur ; Natasha NASSAR, Auteur ; Jenny BOURKE, Auteur ; Carol BOWER, Auteur ; Emma J. GLASSON, Auteur Année de publication : 2011 Article en page(s) : p.1601-1608 Langues : Anglais (eng) Mots-clés : Autism  Autism spectrum disorders  Prevalence  Diagnosis  Denmark  Western Australia Index. décimale : PER Périodiques Résumé : Prevalence statistics for autism spectrum disorders (ASD) vary widely across geographical boundaries. Some variation can be explained by diagnostic methods, case ascertainment and age at diagnosis. This study compared prevalence statistics for two distinct geographical regions, Denmark and Western Australia, both of which have had population-based registers and consistent classification systems operating over the past decade. Overall ASD prevalence rates were higher in Denmark (68.5 per 10,000 children) compared with Western Australia (51.0 per 10,000 children), while the diagnosis of childhood autism was more prevalent in Western Australia (39.3 per 10,000 children) compared with Denmark (21.8 per 10,000 children). These differences are probably caused by local phenomena affecting case ascertainment but influence from biological or geographical factors may exist. En ligne : http://dx.doi.org/10.1007/s10803-011-1186-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=148 [article] A Comparison of Autism Prevalence Trends in Denmark and Western Australia [texte imprimé] / Erik T. PARNER, Auteur ; Poul THORSEN, Auteur ; Glenys DIXON, Auteur ; Nicholas H. DE KLERK, Auteur ; Helen LEONARD, Auteur ; Natasha NASSAR, Auteur ; Jenny BOURKE, Auteur ; Carol BOWER, Auteur ; Emma J. GLASSON, Auteur . - 2011 . - p.1601-1608. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 41-12 (December 2011) . - p.1601-1608 Mots-clés : Autism  Autism spectrum disorders  Prevalence  Diagnosis  Denmark  Western Australia Index. décimale : PER Périodiques Résumé : Prevalence statistics for autism spectrum disorders (ASD) vary widely across geographical boundaries. Some variation can be explained by diagnostic methods, case ascertainment and age at diagnosis. This study compared prevalence statistics for two distinct geographical regions, Denmark and Western Australia, both of which have had population-based registers and consistent classification systems operating over the past decade. Overall ASD prevalence rates were higher in Denmark (68.5 per 10,000 children) compared with Western Australia (51.0 per 10,000 children), while the diagnosis of childhood autism was more prevalent in Western Australia (39.3 per 10,000 children) compared with Denmark (21.8 per 10,000 children). These differences are probably caused by local phenomena affecting case ascertainment but influence from biological or geographical factors may exist. En ligne : http://dx.doi.org/10.1007/s10803-011-1186-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=148

Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study / Ifrah ABDULLAHI in Journal of Autism and Developmental Disorders, 49-9 (September 2019)  

Permalink

Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring / Jenny FAIRTHORNE in Journal of Autism and Developmental Disorders, 46-2 (February 2016)  

Permalink

Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome / Delia HENDRIE in Research in Autism Spectrum Disorders, 5-2 (April-June 2011)  

Permalink

Mothers of Children with Autism have Different Rates of Cancer According to the Presence of Intellectual Disability in Their Child / Jennifer C. FAIRTHORNE in Journal of Autism and Developmental Disorders, 46-9 (September 2016)  

Permalink

Onset of maternal psychiatric disorders after the birth of a child with autism spectrum disorder: A retrospective cohort study / Jenny FAIRTHORNE in Autism, 20-1 (January 2016)  

Permalink

Optimal interpregnancy interval in autism spectrum disorder: A multi-national study of a modifiable risk factor / Gavin PEREIRA in Autism Research, 14-11 (November 2021)  

Permalink

Parent-observed thematic data on quality of life in children with autism spectrum disorder / Amy EPSTEIN in Autism, 23-1 (January 2019)  

Permalink

The International Collaboration for Autism Registry Epidemiology (iCARE): Multinational Registry-Based Investigations of Autism Risk Factors and Trends / Diana SCHENDEL in Journal of Autism and Developmental Disorders, 43-11 (November 2013)  

Permalink

The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population / Deidra YOUNG in Research in Autism Spectrum Disorders, 5-1 (January-March 2011)  

Permalink

There is variability in the attainment of developmental milestones in the CDKL5 disorder / Stephanie FEHR in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Permalink

---

1 2 (1 - 15 / 18) Par page : 25 50 100 200