Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New study reveals Rett syndrome can strike males

10.08.2006
Report co-author Dr Helen Leonard, who heads the Australian Rett Syndrome Study at the Telethon Institute for Child Health Research, says the finding means that testing for the genetic disorder should be considered in some baby boys who develop progressive serious neurological problems.

"The common thinking in the past had been that Rett syndrome only affects girls, and that the genetic flaw would be so serious in boys that they would die before birth," Dr Leonard said.

"Worldwide there have only been 11 previously established cases in boys who have presented early in life with a severe clinical picture of progressive neurological decline and breathing abnormalities starting soon after birth. All but two had a family history of a girl in the family with Rett syndrome. This study has confirmed a further four cases with no family history."

The study, published in the international journal Neurology, was a collaborative effort between researchers from Australia and the United States.

"Genetic testing is used to diagnose Rett syndrome in girls who present with typical symptoms after the age of one year. Prenatal diagnosis is also available in subsequent pregnancies for mothers of girls with Rett syndrome but beyond these families, doctors generally wouldn't test for the problem -- especially in baby boys," Dr Leonard said.

"It is likely that some baby boys with early severe progressive encephalopathy could go undiagnosed and we encourage paediatricians to think about this as a possible cause of severe neurological abnormalities."

Dr Leonard said one of the cases was managed by Princess Margaret Hospital Paediatrician Dr Jackie Scurlock. The genetic testing for that case was undertaken by Dr Mark Davis and Professor Nigel Laing at the Neurogenetics Laboratory at Royal Perth Hospital.

"While sadly the child had died at 14 months of age, it has been important for the parents to finally have a diagnosis, even after his death," Dr Leonard said.

Tammy Gibbs | EurekAlert!
Further information:
http://www.ichr.uwa.edu.au
http://www.researchaustralia.com.au/

More articles from Studies and Analyses:

nachricht New study first to predict which oil and gas wells are leaking methane
21.12.2018 | University of Vermont

nachricht Droughts boost emissions as hydropower dries up
21.12.2018 | Stanford's School of Earth, Energy & Environmental Sciences

All articles from Studies and Analyses >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Ten-year anniversary of the Neumayer Station III

The scientific and political community alike stress the importance of German Antarctic research

Joint Press Release from the BMBF and AWI

The Antarctic is a frigid continent south of the Antarctic Circle, where researchers are the only inhabitants. Despite the hostile conditions, here the Alfred...

Im Focus: Ultra ultrasound to transform new tech

World first experiments on sensor that may revolutionise everything from medical devices to unmanned vehicles

The new sensor - capable of detecting vibrations of living cells - may revolutionise everything from medical devices to unmanned vehicles.

Im Focus: Flying Optical Cats for Quantum Communication

Dead and alive at the same time? Researchers at the Max Planck Institute of Quantum Optics have implemented Erwin Schrödinger’s paradoxical gedanken experiment employing an entangled atom-light state.

In 1935 Erwin Schrödinger formulated a thought experiment designed to capture the paradoxical nature of quantum physics. The crucial element of this gedanken...

Im Focus: Nanocellulose for novel implants: Ears from the 3D-printer

Cellulose obtained from wood has amazing material properties. Empa researchers are now equipping the biodegradable material with additional functionalities to produce implants for cartilage diseases using 3D printing.

It all starts with an ear. Empa researcher Michael Hausmann removes the object shaped like a human ear from the 3D printer and explains:

Im Focus: Elucidating the Atomic Mechanism of Superlubricity

The phenomenon of so-called superlubricity is known, but so far the explanation at the atomic level has been missing: for example, how does extremely low friction occur in bearings? Researchers from the Fraunhofer Institutes IWM and IWS jointly deciphered a universal mechanism of superlubricity for certain diamond-like carbon layers in combination with organic lubricants. Based on this knowledge, it is now possible to formulate design rules for supra lubricating layer-lubricant combinations. The results are presented in an article in Nature Communications, volume 10.

One of the most important prerequisites for sustainable and environmentally friendly mobility is minimizing friction. Research and industry have been dedicated...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Our digital society in 2040

16.01.2019 | Event News

11th International Symposium: “Advanced Battery Power – Kraftwerk Batterie” Aachen, 3-4 April 2019

14.01.2019 | Event News

ICTM Conference 2019: Digitization emerges as an engineering trend for turbomachinery construction

12.12.2018 | Event News

 
Latest News

Additive manufacturing reflects fundamental metallurgical principles to create materials

18.01.2019 | Materials Sciences

How molecules teeter in a laser field

18.01.2019 | Life Sciences

The cytoskeleton of neurons has been found to be involved in Alzheimer's disease

18.01.2019 | Health and Medicine

VideoLinks
Science & Research
Overview of more VideoLinks >>>