Audience with Holy Father: Pope blesses Woodlands mom, daughter Dec 23, 2007
" The Seilers' Italian vacation turned into much more than The Woodlands family, including dad Michael and 7-year-old son Ethan, ever expected. They received tickets to a general audience at the Vatican in early December where scripture was read in several languages and the pope addressed the crowd gathered before him. Certain groups were introduced, including the nearly 25 pilgrims from Sacred Heart Catholic Church in Conroe the Seilers were with. Rachael, 3, has Rett Syndrome and was seated in... (Conroe Courier, TX)
A token of gratitude Dec 11, 2007
The Smithfield native s daughter, Ashlin, 4, was diagnosed with a rare neurodevelopmental disorder called Rett Syndrome (RS) when she was a toddler ... After getting fitted for a brace the following day and undergoing a series of tests, Ashlin was eventually diagnosed with Rett Syndrome six months later. (Logan Herald Journal, UT)
First-ever Genetic Animal Model Of Autism Dec 10, 2007
Broader neuropsychiatric conditions include Fragile X, the most common cause of inherited mental impairment, and Rett Syndrome, a childhood neurodevelopmental disorder characterized by normal early development followed by slowed brain and head growth, seizures, and mental retardation. See also. (Science Daily)
Study finds first-ever genetic animal model of autism Dec 9, 2007
Broader neuropsychiatric conditions include Fragile X, the most common cause of inherited mental impairment, and Rett Syndrome, a childhood neurodevelopmental disorder characterized by normal early development followed by slowed brain and head growth, seizures, and mental retardation. Autism is a neuropsychiatric disorder characterized by repetitive behaviors and by impairment in social interactions and communication skills. (EurekAlert!)
Brain Needs Perfection In Synapse Number Oct 8, 2007
In a report that appears in today's issue of the journal Neuron, they said that too little MeCP2, as in the neurodevelopmental disorder Rett syndrome, or too much MeCP2, can result in mental retardation, problems with gait or spasticity and symptoms of autism ... As infants, girls with Rett syndrome seem normal for at least six months ... Funding for this work came from the National Institutes of Health, the Simons Foundation, the Mental Retardation Developmental Disorders Research Center, The... (Science Daily)
Party animal Sep 3, 2007
In recent years, US senators have also heard evidence from Muhammad Ali and Michael J. Fox on Parkinson's disease, Alanis Morrissette on illegal music downloads, Christie Brinkley on nuclear energy and Julia Roberts on Rett syndrome. But it is the environment that is now basking in the reflected glow of Hollywood's glitterati. (Sydney Morning Herald -- Entertainment)
A long shadow is lifted on Asperger's in adults Jul 24, 2007
Average onset is between ages 3 and 4; regression is usually more dramatic than in Rett syndrome. Sources: Autism clinic at the University of California-San Francisco; Diagnostic and Statistical Manual of Mental Disorders IV; National Institute of Mental Health; Autism Society of America. (USA Today)
Obits: Benda, Opitz, Carson & Vietor Jul 4, 2007
She bravely fought Rett Syndrome, and it was complications following surgery that claimed her young life. Allison enjoyed going to Grandma Mert's house and seeing her cat, Lucky. (Marshall County Journal, SD)
Artistic celebration to feature musicians, art Jun 30, 2007
The Tribute to Texas is an artistic showcase for the public to enjoy local art, hear the music of country artist Kevin Black and help support the International Rett Syndrome Association ... "The grand finale is a concert by Kevin Black, older brother of country music legend Clint Black." The event benefits the International Rett Syndrome Association, a neurological disorder that took the life of Kevin Black's 16-year old daughter in 2004. (Conroe Courier, TX)
Fragile X Finding May Help People With Autism Jun 27, 2007
Earlier this year, scientists from Scotland reported that dramatic recoveries could be achieved in mice with Rett Syndrome, another genetic disease related to autism. Tonegawa's paper says "that some of the abnormalities with mental retardation syndromes and autism aren't necessarily cemented in stone," said Eric Klann, a professor at , who was not involved with the research. (Fox News)
Fragile X study raises hopes for autism Jun 26, 2007
Earlier this year, scientists from Scotland reported that dramatic recoveries could be achieved in mice with Rett Syndrome, another genetic disease related to autism. Tonegawa's paper says "that some of the abnormalities with mental retardation syndromes and autism aren't necessarily cemented in stone," said Eric Klann, a professor at Center for Neural Sciences at New York University who was familiar with the paper but not involved with the research. (Boston Globe)
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets Jun 21, 2007
MECP2 mutations in females lead to Rett syndrome, a neurological disorder characterized by developmental stagnation and regression, loss of purposeful hand use and speech, stereotypic hand movements, deceleration of brain growth, autonomic dysfunction and seizures ... Increased transcript levels of Irak1, Fxyd1, Reln, and Gtl2 may contribute to the neuronal dysfunction in MeCP2-deficient mice and individuals with Rett syndrome. (BioMed Central)
Enbridge Energy Company, Inc. Donates $500,000 to Texas Children's Hospital Jun 20, 2007
The number of people afflicted by neurological disorders such as Rett syndrome, Down syndrome, autism, cerebral palsy, epilepsy and learning disabilities is on the rise. These diseases are estimated to exceed half a trillion dollars annually in healthcare expenditures, lost productivity and related economic costs. (Primezone Releases)
Biker dies in head-on collision Jun 14, 2007
Ferguson wrote on Jun 7, 2007 7:23 PM:" Charles T. "Chuck" Baker Jr. BAKER , CHARLES T. "CHUCK," JR., 48, of Shepherdsville passed away Tuesday, May 29, 2007 at Hardin Memorial Hospital. He was a heavy equipment operator with the International Union of Operator Engineers local 181. He was 1977 graduate of Bullitt Central and he attended Hanover College where he lettered in football for 2 years and a lifetime member of the NRA. He coached youth league football and was a loving family man and a... (News Enterprise Online)
New Adult Brain Cells May Be Central To Lifelong Learning May 26, 2007
M., by the National Institute of Health (NS047344 and AG024984), McKnight Scholar Award, and the Rett Syndrome Research Foundation to H.S., and by a postdoctoral fellowship from the American Heart Association to S.G.. Reference: Ge et al.: "A Critical Period for Enhanced Synaptic Plasticity in Newly Generated Neurons of the Adult Brain." Publishing in Neuron 54, 559--566, May 24, 2007. (Science Daily)
Adult brain cells rediscover their inner child May 24, 2007
The research was funded by the National Institutes of Health, Whitehall Foundation, Sloan Scholar, Klingenstein Fellowship Award, McKnight Scholar Award, Rett Syndrome Research Foundation and American Heart Association. Authors on the paper are Chih-hao Yang and Kuei-sen Hsu of National Cheng Kung University and Shaoyo Ge, Guo-li Ming and Song of Johns Hopkins. (EurekAlert!)
Daily pill to beat genetic diseases Apr 26, 2007
My daughter has Rett Syndrome. Thanks to the work of Dr. Huda Zoghbi at Baylor Medical School in Houston the gene causing Rett Syndrome has been identified. (Times Online)
Capitol rally to provide information on autism Apr 25, 2007
Autism spectrum disorders include autism, asperger's, PDD-NOS, Rett Syndrome and Childhood Disintegrative Disorder. Autism and the spectrum disorders are characterized by a noticed difficulty with relating in social situations, difficulty communicating, restricted and repetitive patterns of behavior along with repetitive patterns with interests. (Jefferson City News Tribune, MO)
How Genetic Malfunction Causes A Form Of Retardation Apr 21, 2007
The researchers speculated that "genetic perturbations such as those seen in NS, or perhaps even in more commonly studied disorders such as Rett Syndrome, might first perturb cell genesis, and then this might in turn alter many later aspects of neural development, ultimately resulting in impaired circuitry and cognitive dysfunction.". Freda Miller of the Hospital for Sick Children and University of Toronto and colleagues published their findings in the April 19, 2007 issue of the journal Neuron,... (Science Daily)
More of this story Apr 7, 2007
The spectrum of neurological disorders - including classic autism, Asperger's disorder and Rett syndrome - affects roughly one in every 150 children, and boys are four times more likely to have autism than girls. While most believe that genetics play a role in autism, others cite environmental toxins and mercury-containing vaccinations as possible causes. (Newport Daily News, RI)
How to Make—or Break—Memory Mar 17, 2007
Sweatt agrees the findings could have implications for cognitive disorders like Rett syndrome and schizophrenia. In schizophrenia, for example, it is known that too little reelin is released because of faulty methylation. (Scientific American)
Autism's roots: mix of chance and genetics Mar 16, 2007
Victoria, now 9, was diagnosed with Rett syndrome, a form of autism, when she was 26 months old. She has since progressed to the point where she now is in a Girl Scout troop, can walk to a grocery story and sit while she is fed at a dinner table. (SunSpot.net)
A local family valiantly struggles with daughter's illness Mar 9, 2007
"All of a sudden, this site came up and it had it all, from her small feet, to the seizures - everything. I called the pediatri-cian right away and said, 'I know what it is.'" Rett Syndrome. "It's terrible. It's absolutely devastat-ing." That's what the doctor had to say about the prognosis of those with Rett Syndrome ... "Her fu-ture was gone. We lost it in an in-stant." The only word to really describe Rett Syndrome is devastat-ing. (Naragansett Times, RI)
9-year-old is only fourth in state with Rett syndrome Feb 28, 2007
Since Rett syndrome is a neurological disorder and not degenerative, those who have it can live long lives ... Now, at age 9, the third-grader's body has been overcome by Rett syndrome -- a rare and severe genetic disorder related to autism ... The Colemans are aware of only four others in Alaska with Rett syndrome. (Anchorage Daily News)
Stanford Q&A: Largest-ever study shows possible genetic links for autism Feb 19, 2007
Finally, about 10 percent of autism cases can be ascribed to single-gene disorders (such as fragile X syndrome, tuberous sclerosis complex and Rett syndrome), or to chromosomal abnormalities - all of which affect brain development. Abnormal brain development early in life is probably another risk factor for developing clinical symptoms seen in autism spectrum disorders. (EurekAlert!)
Diagnosis: Autism Feb 16, 2007
Scottish Study, Using Mice, Shows Rett Syndrome, A Devastating Form Of Autism, May Be Curable. Find Out More About The Disorder, And How To Get Help. (CBS News -- 60 minutes)
Genetic Engineering Cures Mice Of Brain Disorder Feb 13, 2007
(March 7, 2001) -- Researchers from the Whitehead Institute for Biomedical Research have created the long-awaited animal model for Rett syndrome, one of the most common causes of mental retardation in females with an ... (July 22, 2002) -- By studying gene mutations in patients with the complex set of behavioral and neurological symptoms that accompany Rett syndrome, Howard Hughes Medical Institute investigator Huda Zoghbi and her ... (November 17, 2006) -- The classic form of Rett Syndrome... (Science Daily)
Gene hope for brain disease Feb 13, 2007
Scientists claim they can reverse the symptoms of Rett syndrome, the most physically debilitating of all the autism spectrum disorders. Rett syndrome affects several hundred Australians each year, almost always girls, who are often left mute and with severe physical disabilities ... Although the research is new, Rett Syndrome Association of Australia president Bill Callaghan -- whose daughter Joanne had the disease and died in 2004 -- said hope of a cure was more than he dreamed of. (Melbourne Herald Sun)
Hope Raised for Reversing Severe Childhood Disease Feb 13, 2007
WASHINGTON (Reuters) - Scientists searching for a way to treat the rare but severe childhood neurological disorder Rett syndrome have reversed the disease in mice, raising hopes for doing the same in people. In a study appearing on Thursday in the journal Science, researchers led by Adrian Bird of the University of Edinburgh in Scotland switched on a gene called MECP2 in mice with the equivalent of Rett syndrome to make their symptoms vanish ... About one in every 10,000 to 15,000 girls born... (MEDLINEplus)
Can you help kids like Isacc? with picture galleryRichard Heath reveals how YOU can help improve life for disabled youngsters at a Sheffield nursery. Feb 12, 2007
Leanne was diagnosed with Rett syndrome a complex neurological disorder that affects one in every 10,000 girls ... We try not to talk about her while she is in the same room as us," says Tracey.Leanne, who is in her final year at Woolley Wood special school in Shiregreen, also suffers from curvature of the spine, which is getting worse, and has severe stomach problems. She may also have epilepsy, but her occasional fits may just be a symptom of Rett syndrome.But each week she uses what... (Sheffield Today, UK)
Reversal of Fortune: Researchers Erase Symptoms of Autism Spectrum Disorder Feb 11, 2007
A NEW HOPE: Scientists, working with mice, have been able to restore the function of a gene that is mutated in Rett Syndrome, an autism spectrum disorder, reversing many of the symptoms associated with the disease. Rett syndrome (RS) is among the most physically disabling of the autism spectrum disorders, affecting one in every 10,000 to 15,000 females born, according to the National Institutes of Health ... "It encourages the belief that human Rett syndrome is also reversible, if only we can... (Scientific American)
Possible cure for Rett Syndrome found in a single gene Feb 10, 2007
The research, into a condition called Rett syndrome, is also the first sign that damage caused to the brain by other autism-type conditions is not permanent and could be treated in the future ... Professor Adrian Bird, director of the Wellcome Trust Centre for Cell Biology at Edinburgh University, who led the research team, said: "The results we came across were entirely unexpected. Until now it had been thought that Rett syndrome is irrevocable, but our findings show that the damage to... (Scotsman)
Scientists Reverse Autism-like Symptoms In Genetic Mouse Model Of Rett Syndrome Feb 10, 2007
The Rett Syndrome Research Foundation (RSRF) announces results of a landmark study reversing the symptoms of Rett Syndrome (RTT) in a genetic mouse model ... Rett Syndrome is a severe childhood neurological disease that is the most physically disabling of the autism spectrum disorders ... The experiments were funded by the Rett Syndrome Research Foundation (RSRF), the Wellcome Trust and the Rett Syndrome U.K./Jeans for Genes. (Science Daily)
Autism-like disorder 'reversible' Feb 10, 2007
Scottish researchers made symptoms of Rett syndrome disappear in mice by activating a single gene, the magazine Science reports ... Rett syndrome is a complex neurological disorder ... Chris James, director of Rett Syndrome Association UK. (BBC News)
Research shines light on Rett Syndrome Feb 9, 2007
Jennifer and Justin Endres of South Yarmouth with their daughter, Jillian, 4, who has Rett Syndrome, a rare genetic disease that is related to autism ... But now the devastating symptoms of Rett Syndrome, a rare genetic disease related to autism, have been dramatically reversed in mice, raising a great wave of hope for families that previously had little ... Researchers reported yesterday that when they reversed the genetic defect involved in Rett Syndrome, they brought on a stunning recovery in... (Boston Globe)
Surprise hope for Rett syndrome Feb 9, 2007
Surprise hope for recovery from Rett syndrome - Kids & Parenting - MSNBC.com ... Surprise hope for recovery from Rett syndrome ... Thursdays report challenges the long-held belief that the brain damage from Rett syndrome is permanent, but it comes with a big warning: Researchers dont know how to even try such treatment in people yet, making the discovery one of both optimism and continued frustration. (MSNBC -- Health)
Brain disorder 'reversible' Feb 9, 2007
A team at Edinburgh University made symptoms of Rett syndrome disappear in mice by activating a single gene, the magazine Science reports ... Rett syndrome is a complex neurological disorder ... Chris James, director of Rett Syndrome Association UK. (BBC News -- Health)
Study raises hope for Rett Syndrome cure Feb 9, 2007
Thursday's report challenges the long-held belief that the brain damage from Rett syndrome is permanent, but it comes with a big warning: Researchers don't know how to even try such treatment in people yet, making the discovery one of both optimism and continued frustration ... And the work, published Thursday by the journal Science, could affect more than Rett syndrome, because the same genetic culprit plays a role in certain forms of autism and other brain diseases, too ... Rett syndrome is... (Atlanta Journal-Constitution)
Scientists reverse Rett syndrome symptoms Feb 9, 2007
A report published Thursday in the journal Science challenges the long-held belief the brain damage from Rett syndrome is permanent ... And the work could affect more than Rett syndrome, because the same genetic culprit plays a role in certain forms of autism and other brain diseases, too ... Rett syndrome is rare, afflicting roughly one in 10,000 girls. (Xinhuanet, China)
Autism Hope: Rett Syndrome May Be Curable Feb 9, 2007
Scottish Study, Using Mice, Shows Rett Syndrome, A Devastating Form Of Autism, May Be Curable ... At 15 months, Rett syndrome robbed Chelsea of the only word she ever learned to say: "duck," for the favorite toy she soon became unable to pla 00004000 y with ... Now there's new hope for Chelsea and other people with Rett syndrome including more than 20,000 Americans. (CBS News)
Media Coverage Of Autism Differs Dramatically Feb 1, 2007
Sifting through the pages of newspapers, most people reading stories about autism would think scientists are primarily grappling with understanding how environmental factors, such as childhood vaccines, might contribute to the condition. But the truth is quite different. (Science Daily)
Antipsychotic Drug Controls Some Symptoms In Autism Disorder Feb 1, 2007
Risperidone, a drug used to control schizophrenia symptoms, may also help treat behaviors found in autism spectrum disorder, according to a new review of studies. The reviewers looked at three randomized, placebo-controlled studies of risperidone (Risperdal) involving 211 participants, including 31 adults. (Science Daily)
New Study Examines The Influence And Impact Of Conspiracy Theories Surrounding The Death Of Princess Diana Jan 17, 2007
(August 12, 2006) -- A new study has found that the genetic flaw responsible for Rett syndrome can strike males, even where there isn't a family history of the rare brain. . (Science Daily)
New Insight About The Source Of Anxiety In Rett Syndrome Dec 29, 2006
A peptide known to play a role in anxiety is overly plentiful in a mouse model of the inherited neurological disorder Rett syndrome and appears to underlie the anxiety-like behavior in these mice, said researchers from Baylor College of Medicine in a report that appears online in the Proceedings of the National Academy of Sciences ... (November 17, 2006) -- The classic form of Rett Syndrome shows us a child who is the picture of anxiety: she wrings her hands, hyperventilates, trembles ... (March... (Science Daily)
Fact Sheet: Combating Autism Act of 2006 Dec 22, 2006
Other ASDs include Asperger syndrome, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (usually referred to as PDD-NOS). The Act Authorizes Regional Centers Of Excellence For Autism Spectrum Disorder Research And Epidemiology. (White House News Releases)
Full Story from U-WIRE Dec 12, 2006
Autism is the most common among these, but others include Asperger's and Rett Syndrome. There is not a cure for pervasive developmental disorder, although medications can be used to address certain behavioral problems. (U-Wire.com)
Study Uncovers Mutation Responsible For Noonan Syndrome Dec 6, 2006
(July 13, 2006) -- Gene mutations that are responsible for the majority (70 to 80 percent) of cases of Rett syndrome (RTT) in females are not always lethal in males prior to birth, refuting previous assumptions, and ... (August 12, 2006) -- A new study has found that the genetic flaw responsible for Rett syndrome can strike males, even where there isn't a family history of the rare brain ... -- Rett syndrome (or Rett's disorder) is a progressive neurological disorder that is classified as a... (Science Daily)
The making of the girl next door Dec 3, 2006
In 2001 they adopted Rosie, a child with Rett syndrome who can neither walk nor talk; they are her full-time carers. They ferry their disabled charges to Lourdes, with stop-offs at EuroDisney on the way home. (Guardian Unlimited)
Deep Brain Stimulation Offers New Hope For Dystonia Treatment Dec 1, 2006
-- Rett syndrome (or Rett's disorder) is a progressive neurological disorder that is classified as a pervasive developmental disorder by the DSM-IV. The symptoms of this disorder are easily confused. . (Science Daily)
New Findings May Lead To Treatment For Anxiety In Rett Syndrome Nov 18, 2006
The classic form of Rett Syndrome (RTT) shows us a child who is the picture of anxiety: she wrings her hands, hyperventilates, trembles ... (August 12, 2006) -- A new study has found that the genetic flaw responsible for Rett syndrome can strike males, even where there isn't a family history of the rare brain ... (March 7, 2001) -- Researchers from the Whitehead Institute for Biomedical Research have created the long-awaited animal model for Rett syndrome, one of the most common causes of mental... (Science Daily)
RNA Map Provides First Comprehensive Understanding Of Alternative Splicing Nov 11, 2006
(October 19, 2005) -- The gene responsible for Rett syndrome, a devastating neurological disease found mostly in girls, not only silences some genes but in combination with another also regulates alternative splicing. . (Science Daily)
Teach Your Children Oct 25, 2006
In fact, they re rightly proud of their offspring s accomplishments: Natasha, 19, an articulate opera aficionado, studies voice and piano and taught herself to play the flute; Joshua, 13, a quiet adolescent, loves books and took it upon himself to organize the family s voluminous library by the Dewey Decimal System; and Alicia, 11, suffers from a neurological disorder called Rett Syndrome, but despite doctors predictions that she would never walk or say a word, has slowly developed the ability... (San Antonio Current, TX)
News tips from the Journal of Neuroscience Oct 25, 2006
Around the first birthday, a toddler with Rett syndrome starts having trouble speaking and walking. Within a few years, the breathing and heart rate become unstable and hand movements abnormal. (EurekAlert!)
Studies Into Activity-dependent Neuronal Growth Shed Light On Rett Syndrome Oct 24, 2006
Because Rett syndrome (RTT) develops during early childhood, when sensory experiences normally stimulate the development of synaptic circuits, some researchers hypothesized that the fundamental defect in RTT is a failure of synaptic plasticity or maturation ... (November 4, 2003) -- Rett Syndrome is a major cause of mental retardation in girls ... (October 19, 2006) -- Researchers have pinpointed why mutations that cause Rett Syndrome (RTT) -- among the leading causes of mental retardation in... (Science Daily)
Insights into activity-dependent neuronal growth through RSRF-supported research Oct 21, 2006
Because Rett syndrome (RTT) develops during early childhood, when sensory experiences normally stimulate the development of synaptic circuits, some researchers hypothesized that the fundamental defect in RTT is a failure of synaptic plasticity or maturation ... Especially in an era of budget cuts at the National Institutes of Health, private research funding is necessary to fuel the discoveries that will ultimately yield clinical treatments and a cure for Rett Syndrome. (EurekAlert!)
Wayne Rooneys Fiance Launches Hospice Week Sep 16, 2006
Her eight-year-old sister, Rosie, suffers from genetic disorder Rett Syndrome and is a regular visitor to Claire House Childrens Hospice in the Wirral ... Rosie suffers from Rett Syndrome which means she is, and will continue to be, dependent on others for her needs. (MedIndia)
Silence Of The Amoebae: Scientists Render A Disease-causing Pathogen Harmless Sep 3, 2006
(September 4, 2005) -- Adrian Bird of the University of Edinburgh and colleagues report today in the online issue of Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of. . (Science Daily)
New study reveals Rett syndrome can strike males Aug 9, 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... (EurekAlert!)
Autism: Slowly unraveling, still a mystery Aug 1, 2006
The two other disorders: Rett syndrome and childhood disintegrative disorder (CDD), are more rare. According to the National Institute of Mental Health "autism spectrum disorders are more common in the pediatric population than are some better known disorders such as diabetes, spina bifida or Down syndrome.". (CNN -- Health)
Racing For Rett Jul 30, 2006
Nine-time Loretta Lynn Amateur National Motocross Champion Kevin Foley and his family are sponsoring a fundraiser for awareness and research for Rett Syndrome, a rare genetic disease afflicting their daughter Emma. Rett Syndrome is a neuro-developmental disease affecting about one in 10,000 girls ... Every 5 hours a girl is born with Rett Syndrome. (Yahoo News -- Motorcycle Racing)
Organizational shifts to strengthen ‘Darwinian’ sciences programs Jul 14, 2006
His work on neuronal control of breathing has advanced the scientific understanding of SIDS, Rett syndrome and pediatric epilepsy ... Ramirez s honors include the Helmholtz scholarship, the Heisenberg scholarship and membership on the scientific advisory board of the German Rett Syndrome Association. (Univeristy of Chicago Chronicle, IL)
Gene Mutations Responsible For Rett Syndrome In Females Present Sporadically In Males Jul 14, 2006
Gene mutations that are responsible for the majority (seventy to eighty percent) of cases of Rett syndrome (RTT) in females are not always lethal in males prior to birth, refuting previous assumptions, and can occur sporadically in infant males without a family history of the disorder ... Boys born to families with a history of Rett syndrome are examined very closely for MECP2 mutations, but beyond these families, physicians usually do not test for mutations to the gene, said Walter E. Kaufmann,... (Science Daily)
Texas Children's Hospital Ranks in the Nation's Top Five for Seventh Consecutive Year Jul 7, 2006
-- A Texas Children's researcher identified methyl-CpG binding protein 2, as the causative gene in Rett syndrome -- an X-chromosome-linked neurological disorder. About U.S. News. (Primezone Releases)
Research Links Rett Syndrome To Mitochondrial Gene Jun 24, 2006
New research from the lab of Adrian Bird, a molecular geneticist at the University of Edinburgh, Scotland, reveals that abnormally high levels of a protein called Uqcrc1 in the brains of mouse models of Rett Syndrome cause mitochondria -- the cells powerhouses -- to work overtime. This is the first time a mitochondrial gene has been linked to Rett Syndrome, says Dr. Bird ... This research, which was funded in part by the Rett Syndrome Research Foundation, appears in the July issue of the journal... (Science Daily)
Schumer visits Center for Discovery May 27, 2006
A recent survey by the Centers for Disease Control and Prevention puts the prevalence of diagnosed autism spectrum disorders - autism, Asperger syndrome, childhood disintegrative disorder, Rett syndrome and pervasive development disorder - at 5. 7 per 1,000 children ages 4 to 17. (Times Herald-Record, NY)
