Lista de obras -

"The problem with running"--comparing the propulsion strategy of children with developmental coordination disorder and typically developing children

artículo científico publicado en 2013

A fine balance and a shared learning journey: Exploring healthcare engagement through the experiences of youth with Neuromuscular Disorders.

artículo científico

A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder

artículo científico publicado en 2018

A guide for the assessment and management of vitamin D status in people with intellectual disability (developed as an AADDM Working Party initiative)

scientific article published on 01 June 2008

A preliminary investigation of the effects of prenatal alcohol exposure on facial morphology in children with Autism Spectrum Disorder

scientific article published on 31 March 2020

A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndrome.

artículo científico publicado en 2015

Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome.

artículo científico publicado en 2011

An Exploration of the Use of Eye Gaze and Gestures in Females With Rett Syndrome.

artículo científico publicado en 2016

Are preterm birth and intra-uterine growth restriction more common in Western Australian children of immigrant backgrounds? A population based data linkage study

artículo científico publicado en 2019

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

artículo científico publicado en 2014

Assessment and management of nutrition and growth in Rett syndrome

scientific article published on October 2013

Assessment of a Clinical Trial Metric for Rett Syndrome: Critical Analysis of the Rett Syndrome Behaviour Questionnaire

scientific article published on 03 June 2020

Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

artículo científico publicado en 2010

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study.

artículo científico publicado en 2017

Barriers to diagnosis of a rare neurological disorder in China--lived experiences of Rett syndrome families.

artículo científico publicado en 2011

Benefits of powered standing wheelchair devices for adolescents with Duchenne muscular dystrophy in the first year of use

artículo científico publicado en 2020

Building the repertoire of measures of walking in Rett syndrome

artículo científico publicado en 2016

CDKL5 variants: Improving our understanding of a rare neurologic disorder

artículo científico publicado en 2017

Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder

artículo científico publicado en 2019

Caring for a child with severe intellectual disability in China: the example of Rett syndrome

scientific article published on 20 September 2012

Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

scientific article published on 02 June 2011

Choice making in Rett syndrome: a descriptive study using video data

artículo científico publicado en 2017

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

artículo científico publicado en 2016

Clinical and biological progress over 50 years in Rett syndrome.

artículo científico publicado en 2016

Community participation for girls and women living with Rett syndrome

artículo científico publicado en 2013

Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability.

artículo científico publicado en 2017

Comparing Web-Based Mindfulness With Loving-Kindness and Compassion Training for Promoting Well-Being in Pregnancy: Protocol for a Three-Arm Pilot Randomized Controlled Trial

artículo científico publicado en 2020

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

artículo científico publicado en 2015

Content validation of the Quality of Life Inventory-Disability

scientific article published on 21 June 2019

Cyclin-dependent-like kinase 5 is required for pain signaling in human sensory neurons and mouse models

scientific article published on 01 July 2020

Data Linkage: Canadian and Australian Perspectives on a Valuable Methodology for Intellectual and Developmental Disability Research

artículo científico publicado en 2019

Determinants of quality of life in Rett syndrome: new findings on associations with genotype

artículo científico publicado en 2020

Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype.

artículo científico publicado en 2016

Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study

artículo científico publicado en 2019

Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial

artículo científico publicado en 2018

Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability

scientific article published on 15 December 2018

Evaluating the extent of clinical uncertainty among treatment options for patients with early-onset scoliosis.

artículo científico publicado en 2013

Evolving Trends of Gastrostomy Insertion Within a Pediatric Population

scientific article published on 01 November 2018

Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?

artículo científico publicado en 2020

Experience of gastrostomy using a quality care framework: the example of rett syndrome

artículo científico publicado en 2014

Exploring enablers and barriers to accessing health services after a fall among people with intellectual disability

artículo científico publicado en 2020

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset

artículo científico publicado en 2020

Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder

artículo científico publicado en 2020

Exploring quality of life of children with cerebral palsy and intellectual disability: What are the important domains of life?

artículo científico publicado en 2017

Facilitators and Barriers of Participation in "Uptime" Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals

article

Family satisfaction following spinal fusion in Rett syndrome.

artículo científico publicado en 2014

Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome

artículo científico publicado en 2020

Functional abilities in children and adults with the CDKL5 disorder.

artículo científico publicado en 2016

Functioning, participation, and quality of life in children with intellectual disability: an observational study

scientific article published on 30 August 2020

Gastrointestinal dysmotility in Rett syndrome.

artículo científico publicado en 2014

Gastrostomy and quality of life in children with intellectual disability: a qualitative study

scientific article published on 08 April 2020

Genetic drift. The diagnostic odyssey to Rett syndrome: the experience of an Australian family

scientific article published on 06 December 2011

Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence

artículo científico publicado en 2009

Hospital admissions in children with developmental disabilities from ethnic minority backgrounds

scientific article published on 09 September 2019

How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

artículo científico publicado en 2016

Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population

artículo científico publicado en 2018

Impact of biobanks on research outcomes in rare diseases: a systematic review

article

Impact of scoliosis surgery on activities of daily living in females with Rett syndrome.

artículo científico publicado en 2009

Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life

scientific article published on 19 January 2017

Implementing telehealth support to increase physical activity in girls and women with Rett syndrome<i>-</i>ActivRett: protocol for a waitlist randomised controlled trial

artículo científico publicado en 2020

Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review

scientific article published on 01 March 2019

Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review protocol.

artículo científico publicado en 2017

Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome ⬇️

artículo científico publicado el 22 de noviembre de 2011

Investigating falls in adults with intellectual disability living in community settings and their experiences of post-fall care services: protocol for a prospective observational cohort study

artículo científico publicado en 2018

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

artículo científico publicado en 2010

Linking MECP2 and pain sensitivity: the example of Rett syndrome

scientific article published on 01 May 2010

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors.

artículo científico publicado en 2015

Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder

scientific article published on 27 August 2018

Measurement of Sedentary Behaviors or "Downtime" in Rett Syndrome

artículo científico publicado en 2017

Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?

scientific article published on 13 September 2018

Parent Carer Quality of Life and Night-Time Attendance in Non-Ambulant Youth with Neuromuscular Disorders

artículo científico publicado en 2021

Parent-observed thematic data on quality of life in children with autism spectrum disorder.

artículo científico publicado en 2017

Parent-reported health-related quality of life of children with Down syndrome: a descriptive study

artículo científico publicado en 2018

Parental experiences of scoliosis management in Rett syndrome

scientific article published on 01 January 2009

Parental perspectives on the communication abilities of their daughters with Rett syndrome

artículo científico publicado en 2014

Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome.

artículo científico publicado en 2017

Perspectives on hand function in girls and women with Rett syndrome.

artículo científico

Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy

scientific article published on 02 February 2019

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

artículo científico publicado en 2016

Prevalence estimates of mental health problems in children and adolescents with intellectual disability: A systematic review and meta-analysis

artículo científico publicado en 2020

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

artículo científico publicado en 2014

Propulsion strategy in the gait of primary school children; the effect of age and speed.

artículo científico publicado en 2016

Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure

scientific article published on 20 November 2018

Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down Syndrome.

artículo científico publicado en 2017

Quality of Life and Psychosocial Well-Being in Youth With Neuromuscular Disorders Who Are Wheelchair Users: A Systematic Review

artículo científico publicado en 2016

Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome.

artículo científico publicado en 2017

Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families

artículo científico publicado en 2016

Relationship between family quality of life and day occupations of young people with Down syndrome

artículo científico publicado en 2014

Reliability of the Quality of Life Inventory-Disability Measure in Children with Intellectual Disability

artículo científico publicado en 2020

Requirements for improving health and well-being of children with Prader-Willi syndrome and their families

artículo científico publicado en 2019

Resourceful and creative methods are necessary to research rare disorders.

artículo científico publicado en 2013

Respiratory morbidity in Rett syndrome: an observational study.

artículo científico publicado en 2018

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

artículo científico publicado en 2014

Risk of Developmental Disorders in Children of Immigrant Mothers: A Population-Based Data Linkage Evaluation

scientific article published on 04 October 2018

Risk of Hospitalizations Following Gastrostomy in Children with Intellectual Disability

scientific article published on 04 December 2019

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

artículo científico publicado en 2016

Severity Assessment in CDKL5 Deficiency Disorder

artículo científico publicado en 2019

Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices

artículo científico publicado en 2018

Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database.

artículo científico publicado en 2010

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study

artículo científico publicado en 2015

Survival of children and adolescents with intellectual disability following gastrostomy insertion

scientific article published on 21 April 2020

Systematic Review and Meta-Analysis: Mental Health in Children With Neurogenetic Disorders Associated With Intellectual Disability

artículo científico publicado en 2020

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

artículo científico publicado en 2013

The Risk of Neurodevelopmental Disabilities in Children of Immigrant and Refugee Parents: Current Knowledge and Directions for Future Research

The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study

artículo científico publicado en 2012

The contributions of fetal growth restriction and gestational age to developmental outcomes at 12 months of age: A cohort study

scientific article published on 13 January 2020

The development of a consensus statement for the prescription of powered wheelchair standing devices in Duchenne muscular dystrophy

artículo científico publicado en 2020

The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

artículo científico publicado en 2019

The phenotype associated with a large deletion on MECP2.

artículo científico publicado en 2012

The prevalence of mental health disorders and symptoms in children and adolescents with cerebral palsy: a systematic review and meta-analysis

artículo científico publicado en 2017

The trajectories of sleep disturbances in Rett syndrome.

artículo científico publicado en 2014

There is variability in the attainment of developmental milestones in the CDKL5 disorder.

artículo científico publicado en 2015

Transition to adulthood for young people with intellectual disability: the experiences of their families

artículo científico publicado en 2016

Trends in the diagnosis of Rett syndrome in Australia.

artículo científico publicado en 2011

Twenty years of surveillance in Rett syndrome: what does this tell us?

artículo científico publicado en 2014

Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

article

Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients.

artículo científico publicado en 2017

Using a large international sample to investigate epilepsy in Rett syndrome.

artículo científico publicado en 2013

Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome

scientific article published on 10 May 2019

Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder

artículo científico publicado en 2018

Validating the Rett Syndrome Gross Motor Scale

artículo científico publicado en 2016

What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analyses.

artículo científico publicado en 2017

Lista de obras de

"The problem with running"--comparing the propulsion strategy of children with developmental coordination disorder and typically developing children

A fine balance and a shared learning journey: Exploring healthcare engagement through the experiences of youth with Neuromuscular Disorders.

A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder

A guide for the assessment and management of vitamin D status in people with intellectual disability (developed as an AADDM Working Party initiative)

A preliminary investigation of the effects of prenatal alcohol exposure on facial morphology in children with Autism Spectrum Disorder

A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndrome.

Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome.

An Exploration of the Use of Eye Gaze and Gestures in Females With Rett Syndrome.

Are preterm birth and intra-uterine growth restriction more common in Western Australian children of immigrant backgrounds? A population based data linkage study

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

Assessment and management of nutrition and growth in Rett syndrome

Assessment of a Clinical Trial Metric for Rett Syndrome: Critical Analysis of the Rett Syndrome Behaviour Questionnaire

Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study.

Barriers to diagnosis of a rare neurological disorder in China--lived experiences of Rett syndrome families.

Benefits of powered standing wheelchair devices for adolescents with Duchenne muscular dystrophy in the first year of use

Building the repertoire of measures of walking in Rett syndrome

CDKL5 variants: Improving our understanding of a rare neurologic disorder

Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder

Caring for a child with severe intellectual disability in China: the example of Rett syndrome

Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

Choice making in Rett syndrome: a descriptive study using video data

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

Clinical and biological progress over 50 years in Rett syndrome.

Community participation for girls and women living with Rett syndrome

Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability.

Comparing Web-Based Mindfulness With Loving-Kindness and Compassion Training for Promoting Well-Being in Pregnancy: Protocol for a Three-Arm Pilot Randomized Controlled Trial

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

Content validation of the Quality of Life Inventory-Disability

Cyclin-dependent-like kinase 5 is required for pain signaling in human sensory neurons and mouse models

Data Linkage: Canadian and Australian Perspectives on a Valuable Methodology for Intellectual and Developmental Disability Research

Determinants of quality of life in Rett syndrome: new findings on associations with genotype

Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype.

Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study

Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial

Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability

Evaluating the extent of clinical uncertainty among treatment options for patients with early-onset scoliosis.

Evolving Trends of Gastrostomy Insertion Within a Pediatric Population

Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?

Experience of gastrostomy using a quality care framework: the example of rett syndrome

Exploring enablers and barriers to accessing health services after a fall among people with intellectual disability

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset

Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder

Exploring quality of life of children with cerebral palsy and intellectual disability: What are the important domains of life?

Facilitators and Barriers of Participation in "Uptime" Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals

Family satisfaction following spinal fusion in Rett syndrome.

Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome

Functional abilities in children and adults with the CDKL5 disorder.

Functioning, participation, and quality of life in children with intellectual disability: an observational study

Gastrointestinal dysmotility in Rett syndrome.

Gastrostomy and quality of life in children with intellectual disability: a qualitative study

Genetic drift. The diagnostic odyssey to Rett syndrome: the experience of an Australian family

Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence

Hospital admissions in children with developmental disabilities from ethnic minority backgrounds

How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population

Impact of biobanks on research outcomes in rare diseases: a systematic review

Impact of scoliosis surgery on activities of daily living in females with Rett syndrome.

Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life

Implementing telehealth support to increase physical activity in girls and women with Rett syndrome<i>-</i>ActivRett: protocol for a waitlist randomised controlled trial

Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review

Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review protocol.

Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome ⬇️

Investigating falls in adults with intellectual disability living in community settings and their experiences of post-fall care services: protocol for a prospective observational cohort study

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

Linking MECP2 and pain sensitivity: the example of Rett syndrome

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors.

Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder

Measurement of Sedentary Behaviors or "Downtime" in Rett Syndrome

Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?

Parent Carer Quality of Life and Night-Time Attendance in Non-Ambulant Youth with Neuromuscular Disorders

Parent-observed thematic data on quality of life in children with autism spectrum disorder.

Parent-reported health-related quality of life of children with Down syndrome: a descriptive study

Parental experiences of scoliosis management in Rett syndrome

Parental perspectives on the communication abilities of their daughters with Rett syndrome

Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome.

Perspectives on hand function in girls and women with Rett syndrome.

Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome