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"I have a good life": the meaning of well-being from the perspective of young adults with Down syndrome.

artículo científico publicado en 2013

"It's not what you were expecting, but it's still a beautiful journey": the experience of mothers of children with Down syndrome.

artículo científico

A Population-Based Matched-Sibling Analysis Estimating the Associations Between First Interpregnancy Interval and Birth Outcomes

article

A comparison of autism prevalence trends in Denmark and Western Australia.

artículo científico publicado en 2011

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 qualitative investigation of recovery after femoral fracture in Rett syndrome.

artículo científico

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

An investigation of the determinants of quality of life in adolescents and young adults with Down syndrome.

artículo científico publicado en 2018

Apgar score and risk of autism

scholarly article by Amirhossein Modabbernia et al published 5 October 2018 in European Journal of Epidemiology

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

Assessing the quality, efficiency and usefulness of the Western Australian population-based Intellectual Disability Exploring Answers (IDEA) surveillance system: a surveillance system evaluation

artículo científico publicado en 2019

Assessment and management of nutrition and growth in Rett syndrome

scientific article published on October 2013

Association between interpregnancy interval and adverse birth outcomes in women with a previous stillbirth: an international cohort study

artículo científico publicado en 2019

Association of Birth Outcomes and Maternal, School, and Neighborhood Characteristics with Subsequent Numeracy Achievement

artículo científico publicado en 2008

Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort

scientific article published on 17 July 2019

Association of Gestational Age at Birth with Reasons for Subsequent Hospitalisation: 18 Years of Follow-Up in a Western Australian Population Study

artículo científico publicado en 2015

Association of gestational age and growth measures at birth with infection-related admissions to hospital throughout childhood: a population-based, data-linkage study from Western Australia.

artículo científico publicado en 2016

Association of sociodemographic characteristics of children with intellectual disability in Western Australia

artículo científico publicado en 2005

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

artículo científico publicado en 2010

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

artículo científico publicado en 2017

Authors' reply: changes in risk factors for preterm birth in Western Australia 1984-2006.

artículo científico publicado en 2013

Autism and intellectual disability are differentially related to sociodemographic background at birth.

artículo científico publicado en 2011

Autism spectrum disorders in young children: effect of changes in diagnostic practices.

artículo científico publicado en 2009

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

Birth seasonality and risk of autism spectrum disorder

artículo científico publicado en 2019

Bone Mineral Content and Density in Rett Syndrome and Their Contributing Factors ⬇️

artículo científico publicado el 1 de abril de 2011

Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual Disability.

artículo científico publicado en 2015

Building the repertoire of measures of walking in Rett syndrome

artículo científico publicado en 2016

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

Changes in Caesarean Delivery Rates in Western Australia from 1995 to 2010 by Gestational Age at Birth.

artículo científico publicado en 2015

Changes in risk factors for preterm birth in Western Australia 1984-2006

article

Characteristics of non-Aboriginal and Aboriginal children and families with substantiated child maltreatment: a population-based study.

artículo científico publicado en 2010

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

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

artículo científico publicado en 2017

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

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

artículo científico publicado en 2006

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.

artículo científico publicado en 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

Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome

artículo científico publicado en 2014

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

artículo científico publicado en 2007

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

Development of a video-based evaluation tool in Rett syndrome.

artículo científico publicado en 2006

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

artículo científico publicado en 2019

Direct Health Care Costs of Children and Adolescents with Down Syndrome ⬇️

artículo científico publicado el 23 de julio de 2011

Early mortality and primary causes of death in mothers of children with intellectual disability or autism spectrum disorder: a retrospective cohort study.

artículo científico publicado en 2014

Effectiveness of posthumous molecular diagnosis from a kept baby tooth

artículo científico publicado en 2005

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

Evaluation of the processes of family-centred care for young children with intellectual disability in Western Australia.

artículo científico publicado en 2010

Evolving Trends of Gastrostomy Insertion Within a Pediatric Population

scientific article published on 01 November 2018

Expanding the clinical picture of the MECP2 Duplication syndrome

artículo científico publicado en 2016

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

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

Factors associated with dental admissions for children aged under 5 years in Western Australia.

artículo científico publicado en 2008

Family functioning in families with a child with Down syndrome: a mixed methods approach.

artículo científico publicado en 2012

Family satisfaction following spinal fusion in Rett syndrome.

artículo científico publicado en 2014

Feasibility of Assessing Diet with a Mobile Food  Record for Adolescents and Young Adults with  Down Syndrome

artículo científico publicado en 2017

Feeding Experiences and Growth Status in a Rett Syndrome Population

scientific article published on 01 November 2007

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

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

scientific article published on 06 December 2011

Gross motor profile in rett syndrome as determined by video analysis.

artículo científico publicado en 2008

Health conditions and their impact among adolescents and young adults with Down syndrome.

artículo científico publicado en 2014

Hip displacement and scoliosis in Rett syndrome - screening is required

artículo científico publicado en 2009

Hospital admissions and gestational age at birth: 18 years of follow up in Western Australia

artículo científico publicado en 2014

Hospital admissions in children with developmental disabilities from ethnic minority backgrounds

scientific article published on 09 September 2019

Hospital admissions in children with down syndrome: experience of a population-based cohort followed from birth.

artículo científico publicado en 2013

Hospitalisation rates for children with intellectual disability or autism born in Western Australia 1983-1999: a population-based cohort study.

artículo científico publicado en 2013

Hospitalisations from birth to 5 years in a population cohort of Western Australian children with intellectual disability.

artículo científico publicado en 2005

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

artículo científico publicado en 2016

IDEA (Intellectual Disability Exploring Answers): a population-based database for intellectual disability in Western Australia.

artículo científico

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 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

Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent Decades

artículo científico publicado en 2015

Increasing prevalence of neonatal withdrawal syndrome: population study of maternal factors and child protection involvement.

artículo científico publicado en 2009

Influence of the environment on participation in social roles for young adults with down syndrome.

artículo científico publicado en 2014

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

artículo científico publicado el 22 de noviembre de 2011

Intellectual Disability in Children Conceived Using Assisted Reproductive Technology

scientific article published on 15 November 2018

Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based study.

artículo científico publicado en 2008

Intellectual disability: population-based estimates of the proportion attributable to maternal alcohol use disorder during pregnancy.

artículo científico publicado en 2012

InterRett, a model for international data collection in a rare genetic disorder

artículo científico publicado en 2009

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

artículo científico publicado en 2008

Leisure participation for school-aged children with Down syndrome.

artículo científico publicado en 2011

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

Longitudinal hand function in Rett syndrome.

artículo científico publicado en 2010

Maltreatment Risk Among Children With Disabilities.

artículo científico publicado en 2017

Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring.

artículo científico publicado en 2015

Maternal conditions and perinatal characteristics associated with autism spectrum disorder and intellectual disability

artículo científico publicado en 2013

Maternal health in pregnancy and intellectual disability in the offspring: a population-based study.

artículo científico publicado en 2005

Maternal mental health and risk of child protection involvement: mental health diagnoses associated with increased risk.

artículo científico publicado en 2015

Measurement of Sedentary Behaviors or "Downtime" in Rett Syndrome

artículo científico publicado en 2017

Medium-term open label trial of L-carnitine in Rett syndrome.

artículo científico publicado en 2001

Mothers of Children with Autism have Different Rates of Cancer According to the Presence of Intellectual Disability in Their Child

artículo científico publicado en 2016

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

artículo científico publicado en 2004

NTNG1 mutations are a rare cause of Rett syndrome

artículo científico publicado en 2006

Neonatal complications in public and private patients: a retrospective cohort study.

artículo científico publicado en 2013

Neonatal outcomes after preterm birth by mothers' health insurance status at birth: a retrospective cohort study.

artículo científico publicado en 2013

Onset of maternal psychiatric disorders after the birth of a child with autism spectrum disorder: A retrospective cohort study.

artículo científico publicado en 2015

Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: a retrospective cohort study

artículo científico publicado en 2014

Oral health experiences of individuals with Rett syndrome: a retrospective study

article

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 depressive symptoms and social relating behaviors differ over time from other behavioral domains for young people with Down syndrome

artículo científico publicado en 2015

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

Physical and mental health in mothers of children with Down syndrome.

artículo científico publicado en 2008

Physical and mental health of mothers caring for a child with Rett syndrome.

artículo científico publicado en 2006

Population-Based Prevalence of Intellectual Disability and Autism Spectrum Disorders in Western Australia: A Comparison With Previous Estimates

artículo científico publicado en 2016

Predicting Long-Term Survival Without Major Disability for Infants Born Preterm

scientific article published on 04 September 2019

Predictors of scoliosis in Rett syndrome.

artículo científico publicado en 2006

Predictors of seizure onset in Rett syndrome.

artículo científico publicado en 2006

Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-being

scientific article published on 19 November 2019

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

artículo científico publicado en 2016

Prevalence of intellectual disability in Western Australia

artículo científico publicado en 2003

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

artículo científico publicado en 2014

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

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

Rare childhood diseases: how should we respond?

artículo científico publicado en 2008

Rare disease: a national survey of paediatricians' experiences and needs

Rates and types of hospitalisations for children who have subsequent contact with the child protection system: a population based case-control study.

artículo científico publicado en 2009

Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based Study

scientific article published on 06 March 2019

Regan et al. Reply to “Sibling Comparison Design in Birth-Spacing Studies”

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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 in Australia: a review of the epidemiology.

artículo científico publicado en 2006

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 Mortality into Adulthood According to Gestational Age at Birth

artículo científico publicado en 2017

Risk of stillbirth, preterm delivery and fetal growth restriction following exposure in previous birth: systematic review and meta-analysis.

artículo científico

Role of public and private funding in the rising caesarean section rate: a cohort study.

artículo científico publicado en 2013

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

Siblings of children with disabilities: challenges and opportunities

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration.

artículo científico publicado en 2001

Spinal fusion in girls with Rett syndrome: post-operative recovery and family experiences.

artículo científico publicado en 2015

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 with Rett syndrome: comparing Rett's original sample with data from the Australian Rett Syndrome Database.

artículo científico publicado en 2010

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

artículo científico publicado en 2020

The International Collaboration for Autism Registry Epidemiology (iCARE): multinational registry-based investigations of autism risk factors and trends

artículo científico publicado en 2013

The Natural History of Scoliosis in Females With Rett Syndrome.

artículo científico

The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.

artículo científico publicado en 2006

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

artículo científico publicado en 2009

The diagnosis of autism in a female: could it be Rett syndrome?

artículo científico publicado en 2007

The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life ⬇️

artículo científico publicado el 1 de junio de 2013

The impact of having a sibling with an intellectual disability: parental perspectives in two disorders.

artículo científico publicado en 2008

The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: a population-based study.

artículo científico publicado en 2010

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

artículo científico publicado en 2019

The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison

artículo científico publicado en 2014

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 relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

artículo científico publicado en 2011

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

Total population investigation of dental hospitalizations in Indigenous children under five years in Western Australia using linked data ⬇️

artículo científico publicado el 1 de diciembre de 2011

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

Twenty-Five Year Survival of Children with Intellectual Disability in Western Australia

artículo científico publicado en 2017

Twenty-five-year survival for aboriginal and caucasian children with congenital heart defects in Western Australia, 1980 to 2010.

artículo científico publicado en 2016

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

artículo científico publicado en 2009

Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort study.

artículo científico publicado en 2018

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

Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western Australia

artículo científico publicado en 2018

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

artículo científico publicado en 2012

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

Young People with Intellectual Disability Transitioning to Adulthood: Do Behaviour Trajectories Differ in Those with and without Down Syndrome?

artículo científico publicado en 2016

Young adults with intellectual disability transitioning from school to post-school: A literature review framed within the ICF ⬇️

artículo científico publicado el 3 de abril de 2012

p.R270X MECP2 mutation and mortality in Rett syndrome

scientific article published on 01 November 2005

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