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 et/ou numérique 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 et/ou numérique] / 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

Development of a Video-based Evaluation Tool in Rett Syndrome / Sue FYFE in Journal of Autism and Developmental Disorders, 37-9 (October 2007)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 37-9 (October 2007) . - p.1636-1646 Titre : Development of a Video-based Evaluation Tool in Rett Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Sue FYFE, Auteur ; Michael E. MSALL, Auteur ; Hayley C. LEONARD, Auteur ; Jenny DOWNS, Auteur ; C. ELLAWAY, Auteur ; Walter E. KAUFMANN, Auteur ; C. PHILIPPE, Auteur ; C. L. LAURVICK, Auteur ; J. LISTER, Auteur ; B. BURFORD, Auteur ; O. MCILROY, Auteur ; Sheena REILLY, Auteur Année de publication : 2007 Article en page(s) : p.1636-1646 Langues : Anglais (eng) Mots-clés : Rett-syndrome Video-analysis Functional-ability Movement-disorder Behavioural-phenotype Participatory-research Index. décimale : PER Périodiques Résumé : This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT). Components include a parent-report checklist, and video filming and coding protocols that contain items on eating, drinking, communication, hand function and movements, personal care and mobility. Ninety-seven of the 169 families who initially agreed to participate returned a videotape within 8 months of the first request. Subjects whose videos were returned had a similar age profile to those who did not provide a video but were more likely to have classical than atypical RTT. Evidence of the content and social validity and inter-rater reliability on 11 videos is provided. Video may provide detailed, objective assessment of function and behaviour in RTT. En ligne : http://dx.doi.org/10.1007/s10803-006-0293-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=174 [article] Development of a Video-based Evaluation Tool in Rett Syndrome [Texte imprimé et/ou numérique] / Sue FYFE, Auteur ; Michael E. MSALL, Auteur ; Hayley C. LEONARD, Auteur ; Jenny DOWNS, Auteur ; C. ELLAWAY, Auteur ; Walter E. KAUFMANN, Auteur ; C. PHILIPPE, Auteur ; C. L. LAURVICK, Auteur ; J. LISTER, Auteur ; B. BURFORD, Auteur ; O. MCILROY, Auteur ; Sheena REILLY, Auteur . - 2007 . - p.1636-1646. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 37-9 (October 2007) . - p.1636-1646 Mots-clés : Rett-syndrome Video-analysis Functional-ability Movement-disorder Behavioural-phenotype Participatory-research Index. décimale : PER Périodiques Résumé : This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT). Components include a parent-report checklist, and video filming and coding protocols that contain items on eating, drinking, communication, hand function and movements, personal care and mobility. Ninety-seven of the 169 families who initially agreed to participate returned a videotape within 8 months of the first request. Subjects whose videos were returned had a similar age profile to those who did not provide a video but were more likely to have classical than atypical RTT. Evidence of the content and social validity and inter-rater reliability on 11 videos is provided. Video may provide detailed, objective assessment of function and behaviour in RTT. En ligne : http://dx.doi.org/10.1007/s10803-006-0293-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=174

Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome / Anna URBANOWICZ in Research in Autism Spectrum Disorders, 5-2 (April-June 2011)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 5-2 (April-June 2011) . - p.722-732 Titre : Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Anna URBANOWICZ, Auteur ; Jenny DOWNS, Auteur ; Ami BEBBINGTON, Auteur ; Peter JACOBY, Auteur ; Sonya GIRDLER, Auteur ; Helen LEONARD, Auteur Année de publication : 2011 Article en page(s) : p.722-732 Langues : Anglais (eng) Mots-clés : Rett syndrome  Respite  Equipment  Maternal health  Maternal wellbeing  SF-12 Index. décimale : PER Périodiques Résumé : This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and examined relationships between use of these resources and the health of female caregivers. Data was sourced from questionnaires completed by families (n = 170) contributing to the Australian Rett Syndrome Database in 2004 and 2006. Regression analysis was used to assess relationships between child factors (age, mobility, clinical severity and behaviour), family factors (accessibility and socio-economic factors) and the use of equipment and respite services in 2004, and relationships between resource use in 2004 and health of female caregivers as measured by the SF-12 in 2006. In 2004, the majority (88.3%) of families used at least one piece of equipment with more equipment use associated with greater mobility restrictions. Home respite services were used by 54.9% of families and overnight respite services by 47.6% of families. Use of more home respite services was associated with severely restricted levels of mobility and mothers having a vocational or university qualification. Use of more overnight respite services was associated with increasing age of the girl/woman with Rett syndrome and mothers being employed while use of less overnight respite services was associated with increasingly difficult behaviours in the girl/woman. In 2006, female caregivers had a mean mental health score of 41.1 (95% CI 38.9–43.3) and no relationships with previous resource use were identified. The mean physical health score of female caregivers was 48.7 (95% CI 46.8–50.5) and lower scores were associated with the use of equipment and overnight respite services. Equipment was a widely used resource whereas respite services, particularly overnight services, were used less widely. Further investigation of the reasons for this and alternative support strategies is indicated. En ligne : http://dx.doi.org/10.1016/j.rasd.2010.08.006 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=114 [article] Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome [Texte imprimé et/ou numérique] / Anna URBANOWICZ, Auteur ; Jenny DOWNS, Auteur ; Ami BEBBINGTON, Auteur ; Peter JACOBY, Auteur ; Sonya GIRDLER, Auteur ; Helen LEONARD, Auteur . - 2011 . - p.722-732. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 5-2 (April-June 2011) . - p.722-732 Mots-clés : Rett syndrome  Respite  Equipment  Maternal health  Maternal wellbeing  SF-12 Index. décimale : PER Périodiques Résumé : This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and examined relationships between use of these resources and the health of female caregivers. Data was sourced from questionnaires completed by families (n = 170) contributing to the Australian Rett Syndrome Database in 2004 and 2006. Regression analysis was used to assess relationships between child factors (age, mobility, clinical severity and behaviour), family factors (accessibility and socio-economic factors) and the use of equipment and respite services in 2004, and relationships between resource use in 2004 and health of female caregivers as measured by the SF-12 in 2006. In 2004, the majority (88.3%) of families used at least one piece of equipment with more equipment use associated with greater mobility restrictions. Home respite services were used by 54.9% of families and overnight respite services by 47.6% of families. Use of more home respite services was associated with severely restricted levels of mobility and mothers having a vocational or university qualification. Use of more overnight respite services was associated with increasing age of the girl/woman with Rett syndrome and mothers being employed while use of less overnight respite services was associated with increasingly difficult behaviours in the girl/woman. In 2006, female caregivers had a mean mental health score of 41.1 (95% CI 38.9–43.3) and no relationships with previous resource use were identified. The mean physical health score of female caregivers was 48.7 (95% CI 46.8–50.5) and lower scores were associated with the use of equipment and overnight respite services. Equipment was a widely used resource whereas respite services, particularly overnight services, were used less widely. Further investigation of the reasons for this and alternative support strategies is indicated. En ligne : http://dx.doi.org/10.1016/j.rasd.2010.08.006 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=114

Validating the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder / Helen LEONARD ; Kingsley WONG ; Peter JACOBY ; Mary SPENCE ; Eric D. MARSH ; Tim A. BENKE ; Scott DEMAREST ; Jenny DOWNS in Journal of Autism and Developmental Disorders, 54-7 (July 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-7 (July 2024) . - p.2526-2535 Titre : Validating the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Helen LEONARD, Auteur ; Kingsley WONG, Auteur ; Peter JACOBY, Auteur ; Mary SPENCE, Auteur ; Eric D. MARSH, Auteur ; Tim A. BENKE, Auteur ; Scott DEMAREST, Auteur ; Jenny DOWNS, Auteur Article en page(s) : p.2526-2535 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist (CSBS-DP ITC). Caregivers (n = 150; affected individuals aged 1-29 years) completed the CSBS-DP ITC. Distribution of scores indicated a floor effect. There was poor divergent validity for the three-factor model but goodness of fit and convergent validity data were satisfactory for the one-factor model. Individuals with poorer overall functional abilities scored lower on the CSBS-DP ITC. Test-retest reliability was excellent. The floor effect could explain the very high reliability, suggesting problems as a sensitive outcome measure in clinical trials for CDD. En ligne : https://doi.org/10.1007/s10803-023-06002-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=533 [article] Validating the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder [Texte imprimé et/ou numérique] / Helen LEONARD, Auteur ; Kingsley WONG, Auteur ; Peter JACOBY, Auteur ; Mary SPENCE, Auteur ; Eric D. MARSH, Auteur ; Tim A. BENKE, Auteur ; Scott DEMAREST, Auteur ; Jenny DOWNS, Auteur . - p.2526-2535. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 54-7 (July 2024) . - p.2526-2535 Index. décimale : PER Périodiques Résumé : CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist (CSBS-DP ITC). Caregivers (n = 150; affected individuals aged 1-29 years) completed the CSBS-DP ITC. Distribution of scores indicated a floor effect. There was poor divergent validity for the three-factor model but goodness of fit and convergent validity data were satisfactory for the one-factor model. Individuals with poorer overall functional abilities scored lower on the CSBS-DP ITC. Test-retest reliability was excellent. The floor effect could explain the very high reliability, suggesting problems as a sensitive outcome measure in clinical trials for CDD. En ligne : https://doi.org/10.1007/s10803-023-06002-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=533

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