Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome / Jenny DOWNS in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome Type de document : texte imprimé Auteurs : Jenny DOWNS, Auteur ; Kingsley WONG, Auteur ; Helen LEONARD, Auteur Langues : Anglais (eng) Mots-clés : Humans  Rett Syndrome/physiopathology/genetics/complications  Female  Male  Child  Adult  Cross-Sectional Studies  Child, Preschool  Phenotype  Adolescent  Middle Aged  Young Adult  Surveys and Questionnaires  Genotype  Methyl-CpG-Binding Protein 2/genetics  Australia  Sleep Wake Disorders/physiopathology  Behaviour  Outcome measure  Rett syndrome  Taysha  Clinical Trials with Anavex and Newron  All remuneration has been made to  her department. HL: Consultancy for Marinus, Acadia, Avexis and Orion  Clinical  Trials with Anavex and Newron  All remuneration has been made to her department.  KW: Has no competing interests. Index. décimale : PER Périodiques Résumé : INTRODUCTION: Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT. Little is known how RSBQ scores are associated with genetic and clinical characteristics in RTT. This study investigated relationships between genotype, age, walking, hand function, sleep, and RSBQ total and subscale scores in RTT. METHODS: This is a cross-sectional analysis of data collected in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database. Parent caregivers completed the RSBQ and Sleep Disturbance Scale for Children [subscales for disorders of initiating and maintaining sleep (DIMS), disorders of excessive somnolence (DOES)], and provided information on age, variant type, functional abilities (mobility, hand function), seizure frequency and gastrointestinal problems. Associations between the RSBQ scores and the independent variables were modelled using linear regression. RESULTS: Data were available for 365 individuals with RTT [median (range) age 17.8 (2.9-51.9) years, 2 males]. Compared to adults, 2- to 12-year-old children had higher mean Total, Night-time Behaviour and Fear/Anxiety scores. Compared to individuals with a C-terminal deletion, individuals with the p.Arg255* variant had higher mean Total and Night-time Behaviours scores, whereas the p.Arg294* variant had higher mean Mood scores. Individuals with intermediate mobility and hand function abilities had a higher mean Total score. Total RSBQ and subscale scores were similar across categories for seizures, constipation, and reflux, but were higher with abnormal DIMS and abnormal DOES scores. CONCLUSION: Except for associations with sleep, the RSBQ measures the behavioural phenotype rather than clinical severity in RTT, as traditionally conceptualised in terms of functional abilities and comorbidities. When designing clinical trials, the RSBQ needs to be complemented by other outcome measures to assess specific core functions and associated comorbidities in RTT. En ligne : https://dx.doi.org/10.1186/s11689-024-09575-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome [texte imprimé] / Jenny DOWNS, Auteur ; Kingsley WONG, Auteur ; Helen LEONARD, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Rett Syndrome/physiopathology/genetics/complications  Female  Male  Child  Adult  Cross-Sectional Studies  Child, Preschool  Phenotype  Adolescent  Middle Aged  Young Adult  Surveys and Questionnaires  Genotype  Methyl-CpG-Binding Protein 2/genetics  Australia  Sleep Wake Disorders/physiopathology  Behaviour  Outcome measure  Rett syndrome  Taysha  Clinical Trials with Anavex and Newron  All remuneration has been made to  her department. HL: Consultancy for Marinus, Acadia, Avexis and Orion  Clinical  Trials with Anavex and Newron  All remuneration has been made to her department.  KW: Has no competing interests. Index. décimale : PER Périodiques Résumé : INTRODUCTION: Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT. Little is known how RSBQ scores are associated with genetic and clinical characteristics in RTT. This study investigated relationships between genotype, age, walking, hand function, sleep, and RSBQ total and subscale scores in RTT. METHODS: This is a cross-sectional analysis of data collected in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database. Parent caregivers completed the RSBQ and Sleep Disturbance Scale for Children [subscales for disorders of initiating and maintaining sleep (DIMS), disorders of excessive somnolence (DOES)], and provided information on age, variant type, functional abilities (mobility, hand function), seizure frequency and gastrointestinal problems. Associations between the RSBQ scores and the independent variables were modelled using linear regression. RESULTS: Data were available for 365 individuals with RTT [median (range) age 17.8 (2.9-51.9) years, 2 males]. Compared to adults, 2- to 12-year-old children had higher mean Total, Night-time Behaviour and Fear/Anxiety scores. Compared to individuals with a C-terminal deletion, individuals with the p.Arg255* variant had higher mean Total and Night-time Behaviours scores, whereas the p.Arg294* variant had higher mean Mood scores. Individuals with intermediate mobility and hand function abilities had a higher mean Total score. Total RSBQ and subscale scores were similar across categories for seizures, constipation, and reflux, but were higher with abnormal DIMS and abnormal DOES scores. CONCLUSION: Except for associations with sleep, the RSBQ measures the behavioural phenotype rather than clinical severity in RTT, as traditionally conceptualised in terms of functional abilities and comorbidities. When designing clinical trials, the RSBQ needs to be complemented by other outcome measures to assess specific core functions and associated comorbidities in RTT. En ligne : https://dx.doi.org/10.1186/s11689-024-09575-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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

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

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)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-9 (September 2019) . - p.3611-3624 Titre : Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study Type de document : texte imprimé Auteurs : Ifrah ABDULLAHI, Auteur ; Kingsley WONG, Auteur ; Keely BEBBINGTON, Auteur ; Raewyn MUTCH, Auteur ; Nick DE KLERK, Auteur ; Sarah CHERIAN, Auteur ; Jenny DOWNS, Auteur ; Helen LEONARD, Auteur ; Emma J. GLASSON, Auteur Article en page(s) : p.3611-3624 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Immigrant  Intellectual disability  Severity  Symptomatology Index. décimale : PER Périodiques Résumé : An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed but clinical profiles are rarely compared. Diagnostic data from children with ASD notified to the Western Australian Register for Autism Spectrum Disorders were analysed according to maternal-race ethnicity and country of birth. A total of 4776 children aged between 0 and 18 years diagnosed with ASD from 1999 to 2017 were included. Those born to immigrant mothers from lower income countries were younger at the time of diagnosis, had an increased risk of intellectual disability and poorer presentations in the social and communication domains. Further work is required to understand environmental influences that may affect children born to immigrant mothers and to improve monitoring and assessments. En ligne : http://dx.doi.org/10.1007/s10803-019-04068-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405 [article] Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study [texte imprimé] / Ifrah ABDULLAHI, Auteur ; Kingsley WONG, Auteur ; Keely BEBBINGTON, Auteur ; Raewyn MUTCH, Auteur ; Nick DE KLERK, Auteur ; Sarah CHERIAN, Auteur ; Jenny DOWNS, Auteur ; Helen LEONARD, Auteur ; Emma J. GLASSON, Auteur . - p.3611-3624. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-9 (September 2019) . - p.3611-3624 Mots-clés : Autism spectrum disorder  Immigrant  Intellectual disability  Severity  Symptomatology Index. décimale : PER Périodiques Résumé : An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed but clinical profiles are rarely compared. Diagnostic data from children with ASD notified to the Western Australian Register for Autism Spectrum Disorders were analysed according to maternal-race ethnicity and country of birth. A total of 4776 children aged between 0 and 18 years diagnosed with ASD from 1999 to 2017 were included. Those born to immigrant mothers from lower income countries were younger at the time of diagnosis, had an increased risk of intellectual disability and poorer presentations in the social and communication domains. Further work is required to understand environmental influences that may affect children born to immigrant mothers and to improve monitoring and assessments. En ligne : http://dx.doi.org/10.1007/s10803-019-04068-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405

Prenatal neural origins of infant motor development: Associations between fetal brain and infant motor development / Moriah E. THOMASON in Development and Psychopathology, 30-3 (August 2018)  

Public ISBD [article]  inDevelopment and Psychopathology > 30-3 (August 2018) . - p.763-772 Titre : Prenatal neural origins of infant motor development: Associations between fetal brain and infant motor development Type de document : texte imprimé Auteurs : Moriah E. THOMASON, Auteur ; Jasmine HECT, Auteur ; Rebecca WALLER, Auteur ; Janessa MANNING, Auteur ; Ann M. STACKS, Auteur ; Marjorie BEEGHLY, Auteur ; Jordan L. BOEVE, Auteur ; Kingsley WONG, Auteur ; Marion I. VAN DEN HEUVEL, Auteur ; Edgar HERNANDEZ-ANDRADE, Auteur ; Sonia S. HASSAN, Auteur ; Roberto ROMERO, Auteur Article en page(s) : p.763-772 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Functional circuits of the human brain emerge and change dramatically over the second half of gestation. It is possible that variation in neural functional system connectivity in utero predicts individual differences in infant behavioral development, but this possibility has yet to be examined. The current study examines the association between fetal sensorimotor brain system functional connectivity and infant postnatal motor ability. Resting-state functional connectivity data was obtained in 96 healthy human fetuses during the second and third trimesters of pregnancy. Infant motor ability was measured 7 months after birth using the Bayley Scales of Infant Development. Increased connectivity between the emerging motor network and regions of the prefrontal cortex, temporal lobes, posterior cingulate, and supplementary motor regions was observed in infants that showed more mature motor functions. In addition, females demonstrated stronger fetal-brain to infant-behavior associations. These observations extend prior longitudinal research back into prenatal brain development and raise exciting new ideas about the advent of risk and the ontogeny of early sex differences. En ligne : http://dx.doi.org/10.1017/s095457941800072x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=366 [article] Prenatal neural origins of infant motor development: Associations between fetal brain and infant motor development [texte imprimé] / Moriah E. THOMASON, Auteur ; Jasmine HECT, Auteur ; Rebecca WALLER, Auteur ; Janessa MANNING, Auteur ; Ann M. STACKS, Auteur ; Marjorie BEEGHLY, Auteur ; Jordan L. BOEVE, Auteur ; Kingsley WONG, Auteur ; Marion I. VAN DEN HEUVEL, Auteur ; Edgar HERNANDEZ-ANDRADE, Auteur ; Sonia S. HASSAN, Auteur ; Roberto ROMERO, Auteur . - p.763-772. Langues : Anglais (eng) in Development and Psychopathology > 30-3 (August 2018) . - p.763-772 Index. décimale : PER Périodiques Résumé : Functional circuits of the human brain emerge and change dramatically over the second half of gestation. It is possible that variation in neural functional system connectivity in utero predicts individual differences in infant behavioral development, but this possibility has yet to be examined. The current study examines the association between fetal sensorimotor brain system functional connectivity and infant postnatal motor ability. Resting-state functional connectivity data was obtained in 96 healthy human fetuses during the second and third trimesters of pregnancy. Infant motor ability was measured 7 months after birth using the Bayley Scales of Infant Development. Increased connectivity between the emerging motor network and regions of the prefrontal cortex, temporal lobes, posterior cingulate, and supplementary motor regions was observed in infants that showed more mature motor functions. In addition, females demonstrated stronger fetal-brain to infant-behavior associations. These observations extend prior longitudinal research back into prenatal brain development and raise exciting new ideas about the advent of risk and the ontogeny of early sex differences. En ligne : http://dx.doi.org/10.1017/s095457941800072x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=366

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 ; Timothy A. BENKE ; Scott DEMAREST ; Jenny DOWNS in Journal of Autism and Developmental Disorders, 54-7 (July 2024)  

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