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Authors whose works are in public domain in at least one jurisdiction

List of works by Jenny Downs

1-50 of 132 results

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

scientific article

Trends in the diagnosis of Rett syndrome in Australia.

scientific article

Clinical and biological progress over 50 years in Rett syndrome.

scientific article

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

scientific article published on 19 February 2013

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

scientific article published on August 2009

Linking MECP2 and pain sensitivity: the example of Rett syndrome

scientific article published on 01 May 2010

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

scientific article published in February 2010

The trajectories of sleep disturbances in Rett syndrome.

scientific article

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

scientific article published on 4 May 2011

Assessment and management of nutrition and growth in Rett syndrome

scientific article published on October 2013

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

scientific article

Gastrointestinal dysmotility in Rett syndrome.

scientific article published on February 2014

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

scientific article

The phenotype associated with a large deletion on MECP2.

scientific article

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

scientific article

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

scientific article published on 21 October 2016

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

scientific article

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

scientific article

Validating the Rett Syndrome Gross Motor Scale

scientific article published on 22 January 2016

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

scientific article published on 12 June 2017

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

scientific article published in June 2009

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

scientific article published on 01 October 2010

Functional abilities in children and adults with the CDKL5 disorder.

scientific article

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

scientific article

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

scientific article published on November 26, 2014

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

scientific article published in January 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

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

scientific article

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

scientific article published on 7 February 2015

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

scientific article

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

scientific article published on 21 November 2011

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

scientific article published on 21 December 2015

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

scientific article published on 15 December 2014

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

scientific article published on 06 December 2011

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

scientific article published on February 24, 2014

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

scientific article published on November 22, 2011

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

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

scientific article

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

scientific article published on 10 January 2018

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

scientific article published on 12 January 2014

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

scientific article published on 11 December 2015

Family satisfaction following spinal fusion in Rett syndrome.

scientific article

CDKL5 variants: Improving our understanding of a rare neurologic disorder

scientific article published on 15 December 2017

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

scientific article published on 23 July 2018

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

scientific article published on 19 July 2013

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

scientific article published on 15 February 2014

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

scientific article published on March 9, 2015

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

scientific article published on 6 February 2017

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

scientific article published on 11 May 2016

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

scientific article published in October 2017