Atypical Presentations and Specific Genotypes are Associated with a Delay in Diagnosis in Females with Rett Syndrome

Por Fehr, Stephanie, Downs, Jenny, Bebbington, Ami, Leonard, Helen
Publicado em 2010

Spinal fusion in girls with Rett syndrome: postoperative recovery and family experiences

Por Marr, Caitlin, Leonard, Helen, Torode, Ian, Downs, Jenny
Publicado no Child Care Health Dev (2015)

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

Por Downs, Jenny, Forbes, David, Johnson, Michael, Leonard, Helen
Publicado no J Paediatr Child Health (2016)

A qualitative investigation of recovery after femoral fracture in Rett syndrome

Por Horne, Thomas, Leonard, Helen, Stannage, Katherine, Downs, Jenny
Publicado no Child Care Health Dev (2016)

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

Por Anderson, Alison, Wong, Kingsley, Jacoby, Peter, Downs, Jenny, Leonard, Helen
Publicado em 2014

The trajectories of sleep disturbances in Rett syndrome

Por Wong, Kingsley, Leonard, Helen, Jacoby, Peter, Ellaway, Carolyn, Downs, Jenny
Publicado no J Sleep Res (2014)

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

Por DOWNS, JENNY, LEONARD, HELEN, WONG, KINGSLEY, NEWTON, NIKKI, HILL, KYLIE
Publicado no Dev Med Child Neurol (2017)

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

Por Mori, Yuka, Downs, Jenny, Wong, Kingsley, Anderson, Barbara, Epstein, Amy, Leonard, Helen
Publicado no Orphanet J Rare Dis (2017)

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

Por Mackay, Jessica, Downs, Jenny, Wong, Kingsley, Heyworth, Jane, Epstein, Amy, Leonard, Helen
Publicado no J Neurodev Disord (2017)

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

Por Mangatt, Meghana, Wong, Kingsley, Anderson, Barbara, Epstein, Amy, Hodgetts, Stuart, Leonard, Helen, Downs, Jenny
Publicado no Orphanet J Rare Dis (2016)

Validating the Rett Syndrome Gross Motor Scale

Por Downs, Jenny, Stahlhut, Michelle, Wong, Kingsley, Syhler, Birgit, Bisgaard, Anne-Marie, Jacoby, Peter, Leonard, Helen
Publicado no PLoS One (2016)

Trends in the diagnosis of Rett syndrome in Australia

Por Fehr, Stephanie, Bebbington, Ami, Nassar, Natasha, Downs, Jenny, Ronen, Gabriel M, de Klerk, Nicholas, Leonard, Helen
Publicado em 2011

The phenotype associated with a large deletion on MECP2

Por Bebbington, Ami, Downs, Jenny, Percy, Alan, Pineda, Mercé, Zeev, Bruria Ben, Bahi-Buisson, Nadia, Leonard, Helen
Publicado em 2012

Linking MECP2 and pain sensitivity: the example of Rett syndrome

Por Downs, Jenny, Géranton, Sandrine M., Bebbington, Ami, Jacoby, Peter, Bahi-Buisson, Nadia, Ravine, David, Leonard, Helen
Publicado em 2010

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

Por Downs, Jenny, Bebbington, Ami, Jacoby, Peter, Williams, Anne-Marie, Ghosh, Soumya, Kaufmann, Walter E, Leonard, Helen
Publicado em 2010

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

Por Fehr, Stephanie, Leonard, Helen, Ho, Gladys, Williams, Simon, de Klerk, Nick, Forbes, David, Christodoulou, John, Downs, Jenny
Publicado no J Neurodev Disord (2015)

Experience of Gastrostomy Using a Quality Care Framework: The Example of Rett Syndrome

Por Downs, Jenny, Wong, Kingsley, Ravikumara, Madhur, Ellaway, Carolyn, Elliott, Elizabeth J., Christodoulou, John, Jacoby, Peter, Leonard, Helen
Publicado no Medicine (Baltimore) (2014)

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

Por Downs, Jenny, Rodger, Jenny, Li, Chen, Tan, Xuesong, Hu, Nan, Wong, Kingsley, de Klerk, Nicholas, Leonard, Helen
Publicado no Orphanet J Rare Dis (2018)

Qualitative analysis of parental observations on quality of life in Australian children with Down syndrome

Por Murphy, Nada, Epstein, Amy, Leonard, Helen, Davis, Elise, Reddihough, Dinah, Whitehouse, Andrew, Jacoby, Peter, Bourke, Jenny, Williams, Katrina, Downs, Jenny
Publicado no J Dev Behav Pediatr (2017)

Assessment and management of nutrition and growth in Rett syndrome

Por Leonard, Helen, Ravikumara, Madhur, Baikie, Gordon, Naseem, Nusrat, Ellaway, Carolyn, Percy, Alan, Abraham, Suzanne, Geerts, Suzanne, Lane, Jane, Jones, Mary, Bathgate, Katherine, Downs, Jenny
Publicado em 2013