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Most recent 16 results returned for keyword: rett syndrome (Search this on MAP)

Karen Irizarry : Watch the video: RETT: THERE IS HOPE - Trailer The story behind Rett Syndrome is complicated. It involves a devastating genetic affliction that starts with young girls and includes incredible family dynam... 1 hour ago - Via Google+ - View - MedicalXpress.com : http://medicalxpress.com/news/2013-06-rett-syndrome-protein-surrenders-secrets.html http://medicalxpress.com/news/2013-06-rett-syndrome-protein-surrenders-secrets.html Decoding Rett syndrome: New pieces to the puzzle (Medical Xpress)—Rett Syndrome is a neurological disorder that affects about 1 in 10,000 girls. Back in 1992, University of Edinburgh researcher Adrian Bird discovered that the protein, MeCP2, plays a major role in the disease. The story of MeCP2 is in many ways a microcosm of human genetics. It has ... 2 days ago - Via Google+ - View - Reverse Rett : Watch the video: Animation of key interaction between the MeCP2 protein and the NCoR/SMRT complex A paper was published on June 16, 2013 in Nature Neuroscience describing key steps in how mutations in the MECP2 gene cause Rett Syndrome. The paper describes two crucial domains in the protein: the well known methyl binding domain and the newly described NCoR/SMRT Interaction Domain (NID). Mutations in either of these domains cause Rett Syndrome. This work was done via the MECP2 Consortium in the labs of Adrian Bird at University of Edinburgh in collaboration with Michael Greenberg at Harvard Medical School. 3 days ago - Via YouTube - View - Manhattan with a Twist : NYC Throws Down for Charity Galas This Week Wednesday night in New York City was one charity fun-filled evening. Taking place at Hudson Terrace, the International Rett Syndrome Foundation (IRSF) held their first annual Reach for the Stars be... 5 days ago - Via Google+ - View - Julisa Jones : A Definition of Autism and Autism Spectrum Disorders From Lisa Jo Rudy, former About.com Guide Updated... A Definition of Autism and Autism Spectrum Disorders From Lisa Jo Rudy, former About.com Guide Updated April 13, 2009 Question: A Definition of Autism and Autism Spectrum Disorders What is autism? How is it defined? Answer: Autism is a pervasive developmental disorder. Its symptoms include differences and disabilities in many areas including social communication skills, fine and gross motor skills, and sometimes intellectual skills. Autism is also a spectrum disorder. In basic terms, this means you can be a little autistic or very autistic. At one end of the spectrum is Asperger Syndrome, sometimes called The Little Professor syndrome. At the other end of the spectrum is the disorder that is most often called classic or Kannerian autism, which often includes profound developmental delays and challenges. In between are a variety of pervasive developmental disorders including Rett syndrome, Fragile X Syndrome, and pervasive developmental disorder not otherwise specified (PDD-NOS). Not only is autism a spectrum disorder, but recent studies suggest that there may be more than one type of autism. While some autistic people have additional symptoms such as gastrointestinal issues, seizures and even mental illness, others have no such symptoms. The jury is still out on the question of "many autisms," so for now the term "autism spectrum" covers a wide set of differences and disabilities. Sources: Autism Society of America Website Autism Spectrum Disorders (Pervasive Developmental Disorders) National Institute of Mental Health, 2004. Greenspan, Stanley. "The Child with Special Needs." C 1998: Perseus Books. Romanowski, Patricia et al. "The OASIS Guide to Asperger Syndrome." C 2000: Crown Publishers, New York, NY. 5 days ago - Via Reshared Post - View - Rosario M Dorta : http://www.theautspot.com/ The Different Types of Autism Here at TheAUTSPOT.com, autism plays a major... http://www.theautspot.com/ The Different Types of Autism Here at TheAUTSPOT.com, autism plays a major role in our lives, but there are still many individuals out there who are not as informed about the disorder. Every place that AUTSPOT is present, we take the time to inform individuals about our involvement in the autism community. We are frequently confronted with the same question, “What exactly is Autism”?   The truth is, autism comes in a variety of forms and we wanted to take the time to explain the variances of the Autism Spectrum Disorders. The most commonly referenced form of Autism is the Autism Disorder itself, which is usually detectable in children at the age of three - the age that kids are expected to have developed specific communicational, social interaction and behavioral skills.   There are 12 possible symptoms that could affect a child’s social interaction, communication or behavioral patterns and when 6 or more are identified, a diagnosis of Autism may be declared.  Children who do not display at least 6 of the symptoms may instead receive a diagnosis of Asperger’s Syndrome, Childhood Disintegrative Disorder (CDD), Rhett’s Syndrome (RS), or Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS).   Asperger’s Syndrome Is widely known as a milder form of autism. Children who are diagnosed with Asperger’s Syndrome tend to show impairments in social interaction, but unlike many children who are affected by autism, a majority of those with Asperger’s tend to sustain good behavioral patterns and language skills throughout their lives. Unlike children with Autism, kids and young adults with Asperger’s feel more encouraged to interact with their family and peers, but struggle in gaining an understanding of the conventional social rules. A lot of times they are described as being socially awkward or having a lack of empathy, because they fail to recognize certain social cues that would alarm a typically functioning individual, when certain subject matters affect the other speaker negatively. There is also usually a lack of comprehension of the subtleties in syntax, which causes many children with Asperger’s to not acknowledge humor or sarcasm, which can make communication even more difficult for them. A similarity in both children with Autism and Asperger’s is reflected in the lack of eye contact they will share with others and a very strong, nearly obsessive interest in a certain subject matters. By definition, the major difference between the two disorders is the lack of the speech delay in children with Asperger’s, which is very common in children with Autism.             Childhood Disintegrative Disorder (CDD) Also known as Heller’s syndrome differentiates itself most prominently from the four other disorders on the spectrum specifically in the time and age in which the symptoms and effects of the disorder can be noticed in a child. A diagnosis of CDD can be even more devastating for a family, because it is usually not diagnosed until a child has passed the age of three years old, and beforehand, a child will usually be developing normally and then have a sudden loss in skills that they had developed up to that point. Some children may have slight delays before the disorder sets in, but these delays are not always obvious in young children. The transition commonly begins with unexplained changes in behavior such as rants of unprovoked anger or anxiety, which are then followed by the loss of social skills, cognitive skills, motor skills, and even toilet training on some occasions. The age in which children begin regression can be anywhere between their 2nd birthday and the age of ten.  The loss of skills can be a gradual process, but most of the time the digression is a fast process over the span of 6 to 9 months. On occasion, the digression can take place so suddenly and rapidly that children affected notice the obvious changes taking place in their lives.   Rett Syndrome Is unique because of the demographic that it affects. The Autism Spectrum Disorders are four times more prevalent in male children than female children. But Rett’s Syndrome is the only one of the disorders that is actually more prevalent in females (nearly all diagnosed cases are women). Those who are affected by Rett’s share the same habits of repetitive behaviors as those who are affected by the other disorders of the spectrum, but a significant difference between Retts and the other disorders is the fact that 80% of young adults who are affected by Retts experience seizures. Children with Retts usually have no verbal skills, and physical features may include a decelerated rate of head growth, small hands, and small feet, which may be the reason why 50% of the diagnosed are unable to walk.   Those who are diagnosed with Pervasive Developmental Disorder not otherwise specified (PDD-NOS) Often show impairments in the three major categories, but do not meet all the characteristics of autism. Children diagnosed with PDD-NOS do not all share the same autism related symptoms, and because of that, this group of children can be vastly different in their unique capabilities and functionalities. For example, one child labeled with PDD-NOS may have difficulties with language and social interaction, while another child diagnosed with PDD-NOS may have no language problems at all, but shows signs of repetitive behaviors and difficulty in maintaining eye contact. However, both children simply do not have enough symptoms to be considered autistic, and thus both are put in the category of PDD-NOS. People often criticize the PDD-NOS diagnosis due to its broadness and umbrella inclusion.   If you think someone in your family might be affected by Autism, please feel free to use the resources as well as the support network that is available to you through TheAUTSPOT.com. You’ll find referrals, reviews, and expert advice from parents as well as professionals with many years of experience. You can also discover our blog which contains a lot of very helpful information. Warmest Regards, The AUTSPOT Copyright © 2013 TheAUTSPOT Foundatoin, all rights reserved. Our mailing address is: 22525 Maple Ave. Ste 106 Torrance, Ca 90505 TheAutspot - | Autism Support | Autism Society | Autism Resources | The AUTSPOT is an online autism resource for parents, families, and specialists whose lives are touched by the autism spectrum disorders. Join TheAUTSPOT online community for FREE to read and share inspirational autism stories with the autism society of America and individuals across the globe. Take advantage of our AUTSPOT library to learn more information on autism characteristics, early signs of autism in infants, diagnosis, and all the differ... 7 days ago - Via Community - View - Karen Byrne : http://earlychildhoodlanguagedevelopment.blogspot.com/2011/02/pervasive-developmental-disorder-pdd.html... http://earlychildhoodlanguagedevelopment.blogspot.com/2011/02/pervasive-developmental-disorder-pdd.html Pervasive Developmental Disorder (PDD) According to the NIH, Pervasive Developmental Disorders (PDD) refers to a group of disorders including Autism, Asperger’s Syndrome, Childhood Disintegrative Disorder, and Rett's Syndrome. PDD is chara... 8 days ago - Via Reshared Post - View - Wendy Nowamomof : This blog post is a must read! This blog post is a must read! 8 days ago - Via Google+ - View - Jessica Mace : Watch the video: Jayla- Rett Syndrome 10 days ago - Via YouTube - View - matia anderson : when i read this a tear came down from my eye,seeing as my younger sister chloe has it and sadly there... when i read this a tear came down from my eye,seeing as my younger sister chloe has it and sadly there is no cure,im sorry but everything what this says down below is what happend to my sister 13 days ago - Via Reshared Post - View - Krista Kilmon : Customize your message Customize your message Watch the video: Kelly Graduates!!!! My sister Kelly, who has Rett Syndrome, graduated with the Arcadia Class of 2013 last night. When her name was called to receive her diploma my family and I were shocked when the entire room rose to their feet and cheered for her. It was such an amazing moment!!! Thank you to everyone that helped make her moment such a wonderful memory!!! 13 days ago - Via YouTube - View - Crystal Esteras : Help with Rett Syndrome. Knowledge is Power. The Power to Heal. Help with Rett Syndrome. Knowledge is Power. The Power to Heal. Watch the video: Katie's Clinic for Rett Syndrome Research has shown that a diagnosis of Rett syndrome or a related MECP2 disorder does not mean one cannot learn, and that through an enriched environment and... 13 days ago - Via Google+ - View - Annalisa Lista : #dementia   #alzheimers   #dementia   #alzheimers   A bacterium to fight Alzheimer’s - West The solution to Alzheimer’s disease could hide in the human intestine. It is the main finding of a research carried out by the Istituto Superiore di Sanita`in Rome together with the University of Bologna and published in Plos One. Researchers have noticed how a single dose of a toxin produced by the Escherichia Coli, a common bacterium, has regressive effects on neuroinflammations caused by the Rett Syndrome, a rare neurodegenerative dis... 15 days ago - Via Google+ - View - Motorcars Volvo : This family needs our help to give Brielle a normal easy life.  If you are interested please click the... This family needs our help to give Brielle a normal easy life.  If you are interested please click the link below to learn about this disease and how you can donate.   Every little bit counts.  Thank you Brielle's HOPE Fundraiser Our HOPE is that the money raised will allow medical treatments and equipment, therapies, camps, and schooling to fight Rett Syndrome and not allow it to rob her of the ability to walk or talk. 16 days ago - Via Google+ - View - Amanda Jaksha : Together We Will Fight: An Update on Ava and her CDKL5/Atypical Rett Syndrome Diagnosis My name is Ava; you might remember me from my last guest post about the long and exhausting road I traveled to find answers about my rebel genes. It has been a little over a year since I received m... 20 days ago - Via Google+ - View - Abbas Khalid : OUR NOTION OF BEING NORMAL, AUTISM IS ABNORMALITY!! Autistic Teen Working on Astrophysics Ph.D! What... OUR NOTION OF BEING NORMAL, AUTISM IS ABNORMALITY!! Autistic Teen Working on Astrophysics Ph.D! What is Austism?  Autism spectrum disorder (ASD) and autism are both general terms for a group of complex disorders of brain development. These disorders are characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. They include autistic disorder, Rett syndrome, childhood disintegrative disorder, pervasive developmental disorder-not otherwise specified (PDD-NOS) and Asperger syndrome. What Does It Mean to Be “On the Spectrum”?  Each individual with autism is unique. Many of those on the autism spectrum have exceptional abilities in visual skills, music and academic skills. About 40 percent have average to above average intellectual abilities. Indeed, many persons on the spectrum take deserved pride in their distinctive abilities and “atypical” ways of viewing the world. Others with autism have significant disability and are unable to live independently. About 25 percent of individuals with ASD are nonverbal but can learn to communicate using other means. Autism Speaks’ mission is to improve the lives of all those on the autism spectrum. For some, this means the development and delivery of more effective treatments that can address significant challenges in communication and physical health. For others, it means increasing acceptance, respect and support. http://www.autismspeaks.org/what-autism Autism is considered a new developmental disorder as it did not clinically exist until 1944. This list of famous people with autism includes the full spectrum of the diagnosis. There are many celebrities and famous people that are just now being diagnosed as adults. Click through for a few well-known celebrities of today as well as other classic figures from the past. http://www.babble.com/entertainment/famous-people-with-autism/famous-people-with-autism/ 1. Albert Einstein 2. Amadeus Mozart 3.Sir Isaac Newton 4. Charles Darwin 5. Thomas Jefferson [3rd American President] 6.Michelangelo http://autismmythbusters.com/general-public/famous-autistic-people/ Today, Jacob is now working towards a PhD. at Indiana University-Purdue University Indianapolis (IUPUI). Several IQ tests have been administered on him, and Barnett said that it's been concluded that he can't be measured, so he is always given the top number. http://abcnews.go.com/US/autistic-teen-working-astrophysics-phd/story?id=19283078#.Uadp6EBkO8c 20 days ago - Via Google+ - View -