A severe neurodevelopmental disorder mostly affecting girls. ...

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Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

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Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• February 2014

For most individuals, there is initial developmental progress followed by regression at around 6–30 months. The classic signs of RTT then become apparent. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• September 2017

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history. ...

• 1. Telethon Kids Institute
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• Reports and Findings
• 2007
• November 2007

This chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT. ...

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• Reports and Findings
• 2017
• September 2017

Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating... ...

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• Reports and Findings
• 2011
• March 2011

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian... ...

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• Reports and Findings
• 2006
• October 2006

The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials. ...

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• Reports and Findings
• 2010
• December 2010

Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it. ...

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• 2023
• May 2023

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls. ...

• 1. Telethon Kids Institute
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• Reports and Findings
• 2006
• September 2006

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials ...

• 1. Telethon Kids Institute
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• Reports and Findings
• 2016
• January 2016