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

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

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

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 Auteurs : Sue FYFE, Auteur ; Michael E. MSALL, Auteur ; Hayley C. LEONARD, Auteur ; Jenny DOWNS, Auteur ; C. ELLAWAY, Auteur ; Walter E. KAUFMANN, Auteur ; Céline 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] / Sue FYFE, Auteur ; Michael E. MSALL, Auteur ; Hayley C. LEONARD, Auteur ; Jenny DOWNS, Auteur ; C. ELLAWAY, Auteur ; Walter E. KAUFMANN, Auteur ; Céline 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

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)  

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

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

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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)  

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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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