New recommendations ease challenges for Rett sufferers

January 23, 2014 by Lizzie Thelwell
New recommendations ease challenges for Rett sufferers
"Since publication, we have developed leaflets for clinicians and a booklet for families based on the recommendations, which provide information in a readable and understandable format," Dr Leonard says. Credit: Bradley Gordon

The Telethon Institute for Child Health Research together with international collaborators have created a comprehensive approach to tackle feeding and growth problems in Rett Syndrome sufferers.

A rare neurodevelopmental disorder caused by a mutation in the X-linked MECP2 gene, Rett Syndrome mainly affects girls and is associated with loss of hand and communication skills between the ages of one and two years.

The children, although apparently normal at birth and in the early months of life, become severely intellectually and physically impaired following this regression.

Impairments include feeding difficulties related to problems with chewing and swallowing, hypersalivation and hyperventilation, which leads to poor growth and weight gain.

Telethon Institute expert and lead author Dr Helen Leonard says the project included a literature review, parental input and contributions from a multidisciplinary international panel of 27 clinicians.

The result is a comprehensive set of management recommendations to do with clinical assessment of factors such as growth, feeding difficulties and management to increase energy intake.

"The project pulled together data from 77 articles and three sets of guidelines, which we used to create 34 open–ended questions to inform areas in which the literature was lacking," Dr Leonard says.

"We then received feedback from a range of specialists, including gastroenterologists, paediatricians, child neurologists, clinical geneticists, dieticians, speech pathologists and nurses.

"Using a two–stage Delphi process, agreement was achieved on 101 of 112 statements, which inform recommendations we hope will have a major impact on managing the gastrointestinal and growth problems in Rett Syndrome.

"Since publication, we have developed leaflets for clinicians and a booklet for families based on the recommendations, which provide information in a readable and understandable format."

Dr Leonard says drawing together experts was difficult at times and involved contacting practitioners directly by phone and sending encouraging emails at regular intervals to elicit responses.

Dr Leonard established the first Australia–wide register in 1993 to determine the prevalence of Rett Syndrome, and has managed an international register since 2003.

"I first met girls with this condition over 20 years ago as a doctor working at Disability Services Commission in WA, when the cause of the condition was unknown," she says.

"Since 1993, I have published over 70 journal articles and am continuing my research, including developing guidelines for bone health and evaluating the benefits of gastrostomy feeding."

More information: Leaflets and the booklet for families can be accessed here: rett.childhealthresearch.org.au/resources/guidelines,-reports-and-books.aspx

Related Stories

Setting standards for research into Rett syndrome

October 31, 2012

There is an urgent need for new drugs to treat Rett syndrome, a rare and severe neurological disease mainly affecting girls. A bottleneck in drug development for this syndrome is a lack of clarity at the level of preclinical ...

Rett syndrome gene dysfunction redefined

October 3, 2013

Whitehead Institute researchers have redefined the function of a gene whose mutation causes Rett syndrome, a neurodevelopmental autism spectrum disorder. This new research offers an improved understanding of the defects found ...

Recommended for you

Viruses thrive in big families, in sickness and in health

August 5, 2015

The BIG LoVE (Utah Better Identification of Germs-Longitudinal Viral Epidemiology) study, led by scientists at the University of Utah School of Medicine, finds that each bundle of joy puts the entire household at increased ...

Experimental MERS vaccine shows promise in animal studies

July 28, 2015

A two-step regimen of experimental vaccines against Middle East respiratory syndrome (MERS) prompted immune responses in mice and rhesus macaques, report National Institutes of Health scientists who designed the vaccines. ...

Can social isolation fuel epidemics?

July 21, 2015

Conventional wisdom has it that the more people stay within their own social groups and avoid others, the less likely it is small disease outbreaks turn into full-blown epidemics. But the conventional wisdom is wrong, according ...

Lack of knowledge on animal disease leaves humans at risk

July 20, 2015

Researchers from the University of Sydney have painted the most detailed picture to date of major infectious diseases shared between wildlife and livestock, and found a huge gap in knowledge about diseases which could spread ...

IBD genetically similar in Europeans and non-Europeans

July 20, 2015

The first genetic study of inflammatory bowel disease (IBD) to include individuals from diverse populations has shown that the regions of the genome underlying the disease are consistent around the world. This study, conducted ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.