Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Children who stop breathing during sleep show brain damage

12.07.2005


Genetic disease offers clues to SIDS, sleep apnea

Imagine raising a child who stops breathing when falling asleep – and has to be reminded to visit the bathroom after drinking a Big Gulp. That’s the dilemma faced by parents of children born with congenital central hypoventilation syndrome (CCHS). Afflicting about 250 children in the United States, the genetic disease wreaks havoc in areas of the brain that control involuntary actions such as breathing, fluid regulation and heart function.

Now an MRI study by UCLA scientists reveals that these children’s brains display stroke-like damage in regions that regulate the cardiovascular system, body temperature and urination. Published July 11 in the Journal of Comparative Neurology, the research holds important clues for unraveling the mysteries of sudden infant death syndrome (SIDS), sleep apnea and numerous other conditions.



"For a breathing researcher, this syndrome represents a rare opportunity from Mother Nature," explained Ronald Harper, Ph.D., principal investigator and professor of neurobiology at the David Geffen School of Medicine at UCLA. "By using CCHS as a model to study how the brain controls breathing, we hope not only to help children born with the disease, but also provide insights into SIDS and sleep apnea.

"These children’s brains don’t respond to the same cues as the rest of us, which prevents a host of involuntary mechanisms from kicking in," he added. "Younger children have to be reminded to breathe and to go to the bathroom. They will plop down to relax in front of the TV or a video game, start turning blue and not realize they are passing out."

Some children show disruption of the sympathetic nervous system, which regulates cardiovascular function. They have disturbed heart rates and blood pressure, often profusely sweat or shiver, especially at night, and sometimes faint during strenuous bowel movements. A mild fever can worsen breathing problems and quickly grow life-threatening. The pupil of one eye may constrict, while the other remains dilated.

Harper and his colleagues performed MRI brain scans on 12 children with CCHS and compared their scans to those of 28 healthy children matched by age and gender.

"We were startled to see severe tissue injury in multiple regions of the brains of children with CCHS," said Dr. Rajesh Kumar, first author and UCLA neurobiology researcher. "This damage prevents different parts of the brain from communicating with each other and blocks the nervous system from responding to involuntary reflexes."

Located primarily on the right side of the brain, the damage proved extensive. Tissue loss centered in the brain’s emotion areas, which may explain the children’s lack of fear to the feeling of suffocation. Damage also appeared in the anterior cingulate, which helps regulate cardiovascular function, blood pressure, heart rate and pain. This region also is involved in recognizing the urge to urinate.

The basal forebrain showed damage, as well. This area contains sensors for carbon dioxide, regulates thirst and body temperature, and plays a role in maintaining sleep.

"Now that we know where the damage exists, scientists can focus on new strategies to help the brain compensate for the injury," said Harper. "For example, we may be able to inject injured areas with nerve growth factors to stimulate the regrowth of lost nerve fibers and recover some functions."

At least 70 percent of CCHS children tested possess a mutation of PHOX2B, a gene related to brain structures that control blood vessel diameter. Harper hypothesizes that the mutated gene prevents normal development of these regions, resulting in narrowing of the blood vessels and inadequate blood flow to the brain sites that control breathing

"We think that insufficient blood flow starves cells of oxygen in the brain structures that regulate breathing," said Harper. "The breathing disorder results from the brain’s inability to develop completely."

Parents of children with CCHS are desperate to call attention to the need for research of the mysterious syndrome. The condition forces most young patients to undergo a tracheotomy, an opening in the windpipe, which enables parents to quickly connect children to ventilators at bedtime. A family vacation requires lugging the ventilator on planes and to hotel rooms.

A few years ago, ventilators weren’t available, and CCHS children died young. Now ventilators are enabling these children to live past adolescence, when they often unwittingly kill themselves by falling asleep after drinking alcohol. With proper care, CCHS children are now living into their 30s, marrying and having children of their own.

Elaine Schmidt | EurekAlert!
Further information:
http://www.mednet.ucla.edu

More articles from Studies and Analyses:

nachricht Europe’s Demographic Future. Where the Regions Are Heading after a Decade of Crises
10.08.2017 | Berlin-Institut für Bevölkerung und Entwicklung

nachricht Scientists reveal source of human heartbeat in 3-D
07.08.2017 | University of Manchester

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: Fizzy soda water could be key to clean manufacture of flat wonder material: Graphene

Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.

As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...

Im Focus: Exotic quantum states made from light: Physicists create optical “wells” for a super-photon

Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.

Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...

Im Focus: Circular RNA linked to brain function

For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.

While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...

Im Focus: RAVAN CubeSat measures Earth's outgoing energy

An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.

The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...

Im Focus: Scientists shine new light on the “other high temperature superconductor”

A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.

Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Call for Papers – ICNFT 2018, 5th International Conference on New Forming Technology

16.08.2017 | Event News

Sustainability is the business model of tomorrow

04.08.2017 | Event News

Clash of Realities 2017: Registration now open. International Conference at TH Köln

26.07.2017 | Event News

 
Latest News

A Map of the Cell’s Power Station

18.08.2017 | Life Sciences

Engineering team images tiny quasicrystals as they form

18.08.2017 | Physics and Astronomy

Researchers printed graphene-like materials with inkjet

18.08.2017 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>