Epilepsy, And Living Epileptic
Epilepsy I am writing this as, partly, a rant. I don't want pity, and I don't feel sorry for myself. If you think you need to “feel” something, feel anger at the lack of funding on research that can actually save lives, the lack of understanding about what epilepsy is, the lack of accessibility, and the stigma. feel anger at the lack of funding on research that can actually save lives, the lack of understanding about what epilepsy is, the lack of accessibility, and the stigma Epilepsy is Complicated Epilepsy is complicated. It affects people in so many
Uncontainable Presence
You are anywhere You are anytime Daring and enticing Changes unexpectedly predictable The obstinate constant I see your bright presence Piercing my eyes Crawling into my brain The pain comes swiftly And then, the deafening silence My body shakes in your presence Uncontrollable moves A dance of two wills The music is mute Rhythmically disordered Darkness and pain I'm lost in a sea of dread Forlorn as you carefully exit Leaving behind misery I tremble as the silence roars As the pummeling beat of you presence leaves The sky cracks open in blue A blissful fatigue Exhausted excitement But your
Autism and Psychiatric Diagnoses
At different times during my growing up and even during my adult years autism wasn’t something people knew much about. I often came in front of mental health professionals. It is important to know that if you go to a mental health professional or take your child to a mental health professional in all probability you will walk out with a diagnosis of a mental condition as found in the DSM-5 – otherwise known as the Diagnostic and Statistical Manual of Mental Health Disorders In my adult life I obtained a master’s degree in social work. I did clinical work
Families of SMA Awards $150,000 to Investigate New Antisense Therapies for Spinal Muscular Atrophy
Families of SMA is dedicated to creating a treatment and cure for Spinal Muscular Atrophy (SMA) by funding and advancing a comprehensive research program, including drug discovery programs to make practical new therapies. This is the third drug discovery project awarded by Families of SMA in 2013 with a total investment of $400,000. This program will assess the therapeutic potential of second-generation Antisense Oligonucleotides (ASO) sequences for SMA. This funding is being awarded to Co-Principal Investigators Dr. Arthur Burghes at Ohio State University and Dr. Christian Lorson at University of Missouri. Program Description: New Morpholino Antisense Oligonucleotides for the Treatment
Joey Furlong, hospitalized fourth-grader asked to take a standardized test, becomes a symbol in high-stakes testing battle
News that a fourth-grader in the hospital for severe epilepsy was asked to take a standardized test has angered parents and galvanized the anti-standardized testing crowd. As reported in The Washington Post , Joey Furlong was lying in a hospital bed, hoo
Stanford Scientists Demonstrate Brain’s Capacity to Change in Response to Education
"No one is born with the innate ability to recognize numerals."
Pain in My Brain
The one thing in my life I would like to cure.
Study tracks leukemia’s genetic evolution, may help predict disease course, tailor care
Catherine Wu, M.D., and colleagues have published a study that shows how gene mutations shift and evolve over time in chronic lymphocytic leukemia (CLL). This evolution, they report, holds the... BOSTON AND CAMBRIDGE, Mass.ÂÂTumors are not factori
Proximal Femoral Geometry Before and After Varus Rotational Osteotomy in Children With Cerebral Palsy and Neuromuscular Hip Dysplasia
You could be reading the full-text of this article now... Background: Surgical management of hip dysplasia in children with cerebral palsy (CP) usually includes varus rotational osteotomy (VRO) of the proximal femur. Several techniques of VRO (end-to-end
Researchers develop Rx for deafness, impaired balance in mouse model of Usher syndrome
New Orleans, LA Â Jennifer Lentz, PhD, Assistant Professor of Otorhinolaryngology & Biocommunications and a member of the Neuroscience Center of Excellence at LSU Health Sciences Center New Orleans, is the lead author of a paper reporting that hearing an
Stephen Kuusisto: Responding to Euthanasia of Deaf Blind Twins in Belgium
The National Association of the Deaf and the American Association of the Deaf-Blind have released a formal statement on the euthanizing of twins in Belgium who preferred death to becoming deaf-blind. Apparently the Belgians would imagine Helen Keller's l
Exploring Empathy
What is this ability to step into someone else’s shoes? To imagine how they feel - and to hurt for them or be happy for them? Host Frank Stasio is joined by a panel of experts to discuss empathy, the trait that makes us uniquely human. Lasana Harris is an assistant professor in psychology and neuroscience at Duke University; Jesse Prinz is a Distinguished Professor of philosophy at the Graduate Center of the City University of New York; Pate Skene is an associate professor of neurobiology at Duke University and a second year law student; and Ralph Savarese is an
Understanding Hearing Ability
What does speech sound like to deaf and hard of hearing children? Do deaf children hear anything? Some deaf children do in fact have no measurable hearing, but most children have some degree of residual or remaining hearing. Every child is unique in the sounds he or she can hear and his or her ability to understand them. No two children are alike. Two children who perform similarly on their hearing tests may understand or use sounds in very different ways. It is important never to assume how a student should or will communicate because of hearing test results. Whether
Joubert Syndrome Foundation & Related Cerebellar Disorders
Joubert Syndrome is a rare genetic disorder characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing pattern and cognitive impairment. These issues are due to abnormal brain development, resulting in decreased size of the cerebellar vermis and other brain abnormalities that appear as the "molar tooth sign" on a brain MRI. Although rare, several hundred individuals with Joubert Syndrome have been reported in the medical literature. Mutations in at least 10 genes cause Joubert Syndrome, accounting for ~50% of patients. Subsets of individuals with Joubert Syndrome can also have polydactyly (extra fingers or toes), as well
Mind Mysteries
Magnetic resonance image of a brain. The grey C-shaped structure visible at the center of the brain is a corpus callosum. Many born without this structure go undiagnosed for years—only neuroimaging can confirm the agenesis, or failed development, of this brain area. Instead people are diagnosed with disorders such as autism, depression, or ADHD. Sarah Mellnik, a young woman –introduced in Scientific American Mind‘s “The Mystery of the Missed Connection“– who has known about her agenesis of the corpus callosum all of her life explains that in sharing experiences, she and those around her learn that they truly are not alone. “If
Hearing disorder could be misdiagnosed as ADHD in kids
Not enough doctors are aware of auditory processing disorder, the Canadian Association of Speech-language Pathologists and Audiologists says. (iStock) A little-known hearing disorder affecting two to three per cent of Canadian children is being misdiagno
Site helps deaf with signing science terms
Published: Dec. 10, 2012 at 9:43 PM SEATTLE, Dec. 10 (UPI) -- U.S. researchers say an online forum is helping develop sign language versions of specialized terms used in science, technology, engineering and mathematics. Started at the University of Washi
Scientists identify molecules in the ear that convert sound into brain signals
IMAGE: Ulrich Mueller, PhD, (center) isa professor in the Department of Cell Biology,director of the Dorris Neuroscience Center at The Scripps Research Institute, and lead author of the Cell paper;Wei... LA JOLLA, CA Â December 6, 2012 Â For scientists w
CHOP presents new findings on pediatric cardiovascular disease at AHA 2012
Physician-researchers from the Cardiac Center at The Children's Hospital of Philadelphia presented new findings on pediatric cardiovascular disease at the American Heart Association's Scientific Sessions 2012 in Los Angeles. They described racial dispari
URMC, Deaf Community, Study How to Improve Research Participation
Documents that explain life-saving medical procedures or how to take part in research can be difficult to understand, but with a $600,000 grant the University of Rochester Medical Center is studying new ways to deliver those messages to deaf patients and
2 Ohio nurses get probation in malnutrition death
Two Ohio nurses have been sentenced to probation in the malnutrition death of a 14-year-old girl who had cerebral palsy and weighed 28 pounds when she died. Mary Kilby of Miamisburg and Kathryn Williams of Englewood were sentenced in a Dayton courtroom o
Amy Sequenzia: “Storm”
"Storm" a poem by autistic self-advocate Amy Sequenzia.
Mom seeks heart transplant for autistic son
A Pennsylvania woman whose autistic adult son was not recommended for a heart transplant because of his illness and the complexity of the process, among other factors, said she wants to bring more attention to the decision-making process so that those wi
Insights into How Deaf Brain Processes Touch and Sight
People who are born deaf process the senses of touch and sight differently than those who are born with normal hearing, a new study reports. The finding supports the notion that loss of a sense, such as hearing, affects brain development. Hearing loss th
Bright Not Broken – Dr Fred Volkmar – Yale Child Development – Jul 26,2012
This week we continue our conversation on ASD and DSM-5 with leading autism expert and bestselling author Dr. Fred Volkmar director of The Yale Child Development Center. Dr. Volkmar will address the overall rate of autism (1-88) and the percentage that i
Mechanism of CSF drainage benefits unclear in normal pressure hydrocephalus
The beneficial effect of removing cerebrospinal fluid (CSF) from patients with normal pressure hydrocephalus (NPH) is not mediated by reduction of ventricle volume, research suggests. This would be an obvious mechanism, say Niklas Lenfeldt (Umeå Universi
Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation
1 Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo 12311, Egypt 2 Department of Radiology, Cairo University, Cairo, Egypt 3 Department of Paediatrics, Seattle Children’s Research Institute,
Hydrocephalus Research Conference Highlights
By Paul Gross, Chairman of the HA Board of Directors Dr. David Limbrick addresses attendees about the current state of bio-markers. The third NIH sponsored research conference on hydrocephalus concluded on July 11th and by all accounts was a resounding s
Strong communication between brain and muscle requires both having the protein LRP4
Communication between the brain and muscle must be strong for us to eat, breathe or walk. Now scientists have found that a protein known to be on the surface of muscle cells must be present in both tissues to ensure the conversation is robust. Scientists
Deaf people “feel touch” with hearing part of brain
(LiveScience) Individuals who are born deaf use the "hearing" part of their brain to feel touch and to see objects, suggests new research that highlights the plasticity of the human brain. The new study, detailed online July 11 in The Journal of Neurosci
International Hip Dysplasia Institute
The International Hip Dysplasia Institute (IHDI) is a collaborative, international, not-for-profit effort to improve the health and quality of life of those affected by hip dysplasia. Our goal is to provide education to patients, families, and physicians as the most comprehensive and reliable resource for knowledge about hip dysplasia in its various forms. What is Hip Dysplasia? Hip Dysplasia means that the bones of the hip joint are not aligned correctly. It affects thousands of children and adults each year and is known by many different names: Developmental Dysplasia of the Hip (DDH) Hip Dislocation Congenital Dislocation of the Hip (CDH)
Parents of Malnourished Boy “Caring, Fit”
Victor and Oliafa Ramos may have been misinformed, Grey said, but they were trying to care for their sick child. The little boy was so depleted when he arrived at the hospital, he couldn't walk, according to court documents. He weighed 29 pounds, his sto
Magnets in iPad2 May Alter Settings on Brain Shunt Devices: Study
TUESDAY, June 26 (HealthDay News) -- Magnets embedded in the Apple iPad 2 can interfere with the settings of magnetically programmable shunt valves, which are critical devices to drain excess fluid from the brains of those with hydrocephalus and other co
Cooling Therapy for Birth Disorder Boosts Later Survival
A treatment that cools the bodies of infants who lack sufficient oxygen at birth brings benefits that last for years, a new study confirms. Infants sometimes develop severe oxygen deficiency during the birth process. This condition—known as birth asphyxi
Chromosome Disorder Outreach, Inc.
Chromosome Disorder Outreach, Inc. is a non–profit organization, founded, supported, and run by parents just like you. Our children are affected by a wide range of chromosome disorders, including deletions, duplications, trisomies, inversions, translocations, and rings. Sometimes these disorders are so unusual that doctors tell us, "You’re the only one out there." But now using our newly introduced web application we have the capability to specifically categorize chromosomal karyotypes and finally begin to understand more about the genes involved in each rare chromosome rearrangement. We hope to eventually improve specifically tailored treatments to help affected individuals.
Genetics: 2q21.1 variations link autism, attention deficit
Copy cat: Repeated stretches of DNA on either side of the 2q21.1 genomic region (top and bottom, here) have made it difficult to spot the region in genetic screens. Researchers have found deletions and duplications of a small piece of chromosome 2 in peo
Diffuse White Matter in Brain Linked to Language Impairment, Amplified with Autism
Research published last month in the American Journal of Neuroradiology found anomalies in the connecting neural tissues between two primary language processing centers of the brain in autistic children and children with language impairment. The findings indicate that the differences existed in all participants but were more pronounced when language impairment was a factor for the child.
Many Parents of Kids With Autism Don’t Put Faith in Pediatricians
WEDNESDAY, May 16 (HealthDay News) -- Many parents of children with an autism spectrum disorder don't feel they can turn to their pediatricians for advice on treatments, a new study finds. Likewise, many pediatricians don't think they have the knowledge
Howard graduate caps a four-year fight for access
Britney Wilson graduated Saturday from Howard University in a flourish of collegiate honors: Phi Beta Kappa, summa cum laude. But none of them brought quite the same rush of pride as the shiny new handicapped door-opener that awaited her back at the resi
NuclearMitome Test most comprehensive genetic test available for mitochondrial disorders
After almost a year’s worth of clinical use, Transgenomic’s NuclearMitome Test appears to be succeeding in offering doctors a more efficient and complete method for diagnosing people potentially suffering from mitochondrial disorders.
Scoliosis Treatment Might Reduce Need for Surgeries
THURSDAY, April 19 (HealthDay News) -- Magnetically controlled growing rods can treat the spinal disorder scoliosis in children without the need for repeat invasive surgeries, a small new study suggests. Scoliosis is an abnormal curving of the spine that
An Autism Diagnosis in Minutes?
Ask anyone who has taken a psychological exam, words like “rapid,” “accurate,” & “mobile” simply are not ways of describing most clinical diagnostic measures. Luckily, at least for early detection of Autism, a group of doctors from the Center for Biomedical Informatics at Harvard Medical School are looking to change that.
Implications of bringing genome sequencing Into the consulting room
These programs, which were discussed last month at a rare-diseases conference hosted by the Wellcome Trust Sanger Institute near Cambridge, UK, aim to provide a genetic diagnosis that could end years of uncertainty about a child’s disability. “The overarching theme is that genome-based diagnosis is now hitting mainstream medicine,” says Han Brunner, a medical geneticist at the Radboud University Nijmegen Medical Centre in the Netherlands, who leads one of the projects.
Watching TV: Even Worse for Kids Than You Think
It's no secret that sedentary behavior contributes to obesity and chronically poor health. But not all sedentary behaviors are created equal, according to a new study that examines the link between blood pressure in children and their choice of inactive
Aspiring to Conquer Crossover Acting Path
It didn’t take much rehearsing for Russell Harvard, who plays the deaf son of a loquacious and argumentative British family in the Off Broadway play “Tribes,” to get inside his character’s skin. Like his character Billy, the 30-year-old actor is himself
Deaf children’s gesture mismatches provide clues to learning moments
In a discovery that could help instructors better teach deaf children, a team of University of Chicago researchers has found that a gesture-sign mismatch made while explaining a math problem suggests that a deaf child is experiencing a teachable moment. Teachers also frequently use their own gestures to help students learn. They can illustrate how numbers in an equation can be grouped, for example, to help students understand how to make both sides of an equation have the same value. The deaf child watching the interpreter will then miss any messages that the teacher sends in gesture and not in
Noncoding gene linked to autism
Small player: Moesin, a protein that is involved in brain development, appears to be regulated by a noncoding RNA that has been implicated in autism. Researchers have identified a noncoding RNA, a genetic message that is not translated into a protein, th
France’s autism treatment ‘shame’
By Hugh Schofield BBC News, Paris In many countries the standard way of treating autistic children is with behavioural therapy - stimulating and rewarding them to develop the skills they need to function in society - bu
3 genes linked to autism spectrum disorders
Mutations in three new genes have been linked to autism, according to new studies including one with investigators at Mount Sinai School of Medicine. All three studies include lead investigators of the Autism Sequencing Consortium (ASC). The findings, in
Kanti Children’s Hospital
MISSION To realize the vision, the Board has established its mission as the followings: To support GON plan to cut down children’s death rate by two-third by the year 2015. To be a leader in the field of quality child health education, training and research within the region. To develop professional exchange programs with other like-minded child health institutes within or outside the region. To exchange experience and knowledge with regional, zonal district hospitals and health centers on trainings and research. To provide expertise to government for the development of children’s hospital in the country. To set up a standard
Special Education and Rehabilitation Center for Disabled Children (SERC)
Established in 2009, and located in a peaceful neighborhood of midtown Kathmandu, SERC has a goal of providing most effective education to its students. All our students are either differently able or have individual special education needs. Every pupil in SERC has a specific and complex education needs, and our goal is to provide them with the best possible education methodologies and environment for them to flourish and bring out the best buried deep within. We believe that a perfect match between proper education methodology and rehabilitation therapies is the only way to go ahead. We, at SERC, try to
Another Mom Faces Murder Charge in Child with Cerebral Palsy’s Death
A New York woman has pleaded not guilty to an upgraded charge of second-degree murder in the death last summer of her 8-year-old disabled daughter. Veronica Cirella, of Plainview, was initially charged with manslaughter after authorities said she admitte
2q37 Deletion Syndrome: Searching for Answers
The day after my son Aiden was born, the doctors noticed that his features were different from what they considered “normal”. As a new mom this frightened me, as I did not know or understand what was happening with my brand new baby. A geneticist was qui
Hundreds of genes involved in autism, sequencing studies say
New network: Nearly 40 percent of the mutated genes identified in one exome sequencing study of autism are part of an interconnected network of interacting proteins. The largest set of exome sequencing studies, which analyze the protein coding region of
Therapists Address Esophageal Atresia
The Esophageal Atresia Treatment Program at Children's Hospital Boston in Boston, MA, is one of the only programs in the country specifically designed to care for children with this condition. Setting itself apart from the rest, Children's Hospital Bosto
Dysphagia (Swallowing Problems)
Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University
Recording catches teachers mistreating special needs student
Two Alabama teachers have been put on administrative leave after the mother of a 10-year-old student with cerebral palsy attached an audio recorder to the bottom of his wheelchair and caught them scolding him about drooling, among other things. Jose Sali
HHS Announces New Members of Interagency Autism Coordinating Committee (IACC)
Health and Human Services (HHS) Secretary Kathleen Sebelius announced today that she has invited 15 individuals to serve as public members on the Interagency Autism Coordinating Committee (IACC). The IACC is a federal advisory committee established by th
School bans disabled girl from using walker
Kristi Roberts was stunned when school officials insisted that her disabled 5-year-old daughter switch to a wheelchair from the walker she’d been using for the previous two years. Little LaKay had battled cerebral palsy and epilepsy since she was born, a
ADA Kits for Hotel Guests with Hearing Loss
Harris Communications makes it easy to be in compliance with the new ADA requirements for deaf and hard of hearing hotel guests. Effective March 15, 2012, the Federal Americans with Disabilities Act (ADA) changed the accessibility requirements for guest
Student with Down’s Syndrome wins right to challenge high school placement
Belfast's High Court has granted the girl leave to seek a judicial review of the original decision A girl with Down's Syndrome has won the right to challenge the denial of a place at the high school of her family's
Hope Flies: Walk for Abby on Saturday, April 21, 2012
In Honor of Abby Sauerhoefer Date: Saturday, April 21, 2012 Time: Sign-in at 8:30 a.m.; walk starts at 10:00 a.m. Location: Broad Brook Elementary School, 14 Rye Street
NOAH
NOAH is a U.S. based nonprofit, tax-exempt organization that offers information and support to people with albinism, their families and the professionals who work with them. NOAH is operated by its members on a volunteer basis and is funded primarily by dues and contributions of its members. NOAH has also received grants from foundations and organizations for specific projects.
Mitochondrial Disease: Jeans for Genes
Many of us struggle with not knowing how we can make an impact on Rare Disease. Whether we are faced with the day-to-day difficulties of a rare disease itself, or we are passerby’s watching others’ demanding fight – many of us find ourselves scratching o
Makayla Norman,14, was starved to death last year, attorney general calls for change
The Ohio attorney general is calling for change after learning a girl who starved to death was forgotten by the school system. Makayla Norman, 14, suffered from cerebral palsy and could not feed or care for herself. She died in Marc
UC Davis MIND Institute
The UC Davis MIND Institute (Medical Investigation of Neurodevelopmental Disorders) is a collaborative international research center, committed to the awareness, understanding, prevention, care, and cure of neurodevelopmental disorders.
National Primary Immunodeficiency Resource Center
INFO4PI is designed for patients and their families, physicians, researchers, government officials, pharmaceutical companies, industry, and the general public to be able to quickly and seamlessly access information on Primary Immunodeficiency diseases and to realize earliest precise diagnoses, appropriate treatments and sometimes cures of the more than 150 different PI diseases affecting more than 10,000,000 children and adults worldwide.
Deaf children four times more likely to be mistreated at school and have mental health issues
Researchers found that deaf children who cannot make themselves understood within their family are four times more likely to have mental health disorders and more likely to suffer mistreatment at school than deaf children who can communicate with their family members, according to a report published in March 15th issue of The Lancett.
The Lancet:The health of deaf people: communication breakdown
Andrew Alexander discusses how deaf people are often alienated from accessing the UK health-care system and what needs to be done to change this.
New telemetric system safe and effective for ICP measurement
A new implantable sensor device provides a less-invasive alternative for monitoring pressure within the skull (intracranial pressure, or ICP), suggests a pilot study in Operative Neurosurgery, a quarterly supplement to Neurosurgery, official journal of t
A dark legacy of forced sterilizations
Sterilization victims seek compensation STORY HIGHLIGHTS California forcibly sterilized 20,000 people from 1909 to 1963 The goal was to rid society of people labeled "feeble-minded" or "defectives" California's response to victims stands in stark contras
Broad Institute of MIT and Harvard
The Eli and Edythe L. Broad Institute of Harvard and MIT is founded on two core beliefs: This generation has a historic opportunity and responsibility to transform medicine by using systematic approaches in the biological sciences to dramatically accelerate the understanding and treatment of disease. To fulfill this mission, we need new kinds of research institutions, with a deeply collaborative spirit across disciplines and organizations, and having the capacity to tackle ambitious challenges. The Broad Institute is essentially an “experiment” in a new way of doing science, empowering this generation of researchers to: Act nimbly. Encouraging creativity often means moving quickly,
Research on Rare Bone Disorder Reveals New Insights into Autism
“There is growing evidence that many autistic people have related genetic defects, or defects that are exacerbated by this one,” said Yu Yamaguchi, M.D., Ph.D., professor in the Sanford Children’s Health Research Center at Sanford-Burnham. Children with
Deafness penetrates more rapidly and deeply into the brain than previously thought
Portions of a songbird's brain that control how it sings have been shown to decay within 24 hours of the animal losing its hearing. The findings, by researchers at Duke University Medical Center, show that deafness penetrates much more rapidly and deeply
Children’s Hospital of Philadelphia apologizes to Rivera family over kidney transplant flap
(CBS) The Children's Hospital of Philadelphia has apologized to the family of Amelia Rivera, the girl whose family alleged she was denied a life-saving kidney transplant because she was disabled. "As an organization, we regret that we communicated in a m
National Database for Autism Research
Announcer: Unlocking the mysteries of autism and providing new hope for the families and individuals facing its challenges are missions shared by dedicated scientists across the country and around the globe. But despite an overwhelming need for answers, this disorder has not given up its secrets easily, as illustrated by Nancy Minshew, a leading autism researcher at the University of Pittsburgh. Nancy Minshew: Autism is so complex that there's not going to be one thing.
Large eye-tracking study highlights diversity of autism
Gaze mapping: Researchers measured the amount of time children spent looking at eyes (red), mouths (green), bodies (blue) and objects (yellow) when watching scenes from Welcome to the Dollhouse. Children with autism who have different verbal and intellec
Medical Champion© Wiffle Ball Tournament August 10th and 11th
With an innovative and fun twist on fundraising, event chairs James Ramos and Derek Alvarez, along with their committee, will host the Fourth Annual Wiffle Ball Tournament on August 10th at the Don CeSar Beach Resort on St. Pete Beach. Join for them for an All American outing... Wiffle Ball Tournament, Last Days of Summer Beach Bash & Barefoot Dance Party. To help an All-American cause... Children with Allergies & Primary Immune Deficiency. Friday, August 10th 4 P.M. - Sunset Pre-registration, Home Run Derby Contest and Beachside Live Music The Don CeSar Beach Resort St Petersburg Beach Saturday, August 11th
Lloyd Coleman, deaf teen composer’s Olympic theme
Lloyd Coleman, 18, who is also visually impaired, recently won a place at London's Royal Academy of Music. "It's called Breaking the Wall because, after Giles and I started talking about marathons and how runners hit the wall and have to overcome humungous challenges, we realised there were parallels with the kind of challenges disabled people face," he said.
Hannah’s Buddies Charity Classic, Support the Fight Against SMA, March 30-31
The Hannah's Buddies Charity Classic began in 2000 with John Bell of Widespread Panic deciding to help his goddaughter Hannah and tens of thousands of children in their fight against SMA. Today, the golf tournament, silent/auction and concert lineup attracts more than 2,000 participants and has raised nearly $2 million for SMA research. What is SMA? Spinal Muscular Atrophy is a neuromuscular disease that affects between 1 in 6,000 and 1 and 20,000 births. Over time, SMA causes muscles to become weak and considerably smaller. On average, 1 in 40 people are genetic carriers. Sponsor/Donate If you are unable to attend the
Landau-Kleffner Syndrome
Landau-Kleffner syndrome, or acquired epileptic aphasia, is a rare childhood disorder of the central nervous system that affects boys two to three times more than girls. The syndrome is characterized by seizures and the gradual or sudden inability to und
Genomics, Intellectual Disability, and Autism
During the past decade, advances in genetic research have enabled genomewide discovery of chromosomal copy-number changes and single-nucleotide changes in patients with intellectual disability and autism as well as in those with other disorders. These technological advances — which include array comparative genomic hybridization (CGH), single-nucleotide-polymorphism (SNP) genotyping arrays, and massively parallel sequencing — have transformed the approach to the identification of etiologic genes and genomic rearrangements in the research laboratory and are now being applied in the clinical diagnostic arena.
Brian Skotko
A Board-certified medical geneticist at Children's Hospital Boston, Massachusetts General Hospital, Brigham & Women's Hospital, and Dana Farber Cancer Institute, Dr. Skotko has dedicated his professional energies toward children with cognitive and development disabilities. He is one of the specialists in theDown Syndrome Program at Children's Hospital Boston. In 2001 he co-authored the national award-winning book, Common Threads: Celebrating Life with Down Syndrome and, most recently, Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. He is a graduate of Duke University, Harvard Medical School, and Harvard Kennedy School. Dr. Skotko recently authored major research on how physicians deliver
Genetics: Different mutations lead to autism in same family
Gene splicing: A deletion within an autism-associated chromosomal region may predispose the DNA to recombination, resulting in a neighboring deletion. Twin brothers who have autism carry a non-inherited duplication that overlaps with 16p11.2, a chromosom
Pathophysiological distortions in time perception and timed performance
Distortions in time perception and timed performance are presented by a number of different neurological and psychiatric conditions (e.g. Parkinson's disease, schizophrenia, attention deficit hyperactivity disorder and autism). As a consequence, the prim
Neural systems for speech and song in autism
Despite language disabilities in autism, music abilities are frequently preserved. Paradoxically, brain regions associated with these functions typically overlap, enabling investigation of neural organization supporting speech and song in autism. Neural
SoundBite uses vibrations through the teeth to help the hearing impaired
SoundBite is a new hearing device that uses bone conduction through the teeth to help the hearing impaired. SAN ANTONIO -- The newest device on the market for the hearing impaired doesn’t use the ear canal to transmit sound. It uses teeth. Ear Medical Gr
Motor Impairments Appear to Be a Characteristic of Autism
FRIDAY, Feb. 17 (HealthDay News) -- Autism itself seems to be responsible for the problems children with the disorder have in developing motor skills such as running, throwing a ball and learning to write, according to a new study. Previously, it wasn't
How mitochondrial DNA defects cause inherited deafness
Yale scientists have discovered the molecular pathway by which maternally inherited deafness appears to occur: Mitochondrial DNA mutations trigger a signaling cascade, resulting in programmed cell death. The study is in the Feb. 17 issue of Cell. ...
Preventing ‘Absence Seizures’ In Children: New Drugs Show Promise
Main Category: Epilepsy Also Included In: Pediatrics / Children's Health; Clinical Trials / Drug Trials Article Date: 17 Feb 2012 - 1:00 PST email to a friend printer friendly opinions A team led by a University of British Columbia professor has develope
How mitochondrial DNA defects cause inherited deafness
(Medical Xpress) -- Yale scientists have discovered the molecular pathway by which maternally inherited deafness appears to occur: Mitochondrial DNA mutations trigger a signaling cascade, resulting in programmed cell death. The study is in the Feb. 17 is
African-American children tend to be diagnosed later for autism
The rate of diagnosis for autism spectrum disorders (ASD) is the same among all racial groups — one in 110, according to current estimates. However, a study by a Florida State University researcher has found that African-American children tend to be diag
Hospital apologizes to Amelia Rivera who was denied kidney transplant
Children's Hospital of Philadelphia has issued an apology to the parents of Amelia Rivera, a disabled three-year-old girl who, according to her parents, was initially denied a chance at a kidney transplant because she is “mentally retarded.” In a stateme
New information about IL-6 protein’s role in development of neurological disorders
A UT Dallas study is revealing new information about a key protein's role in the development of epilepsy, autism and other neurological disorders. This work could one day lead to new treatments for the conditions. Dr. Marco Atzori, associate professor in
When nerve meets muscle, biglycan seals the deal
In the absence of the protein biglycan, synapses at neuromuscular junctions in mice began to break up about five weeks after birth, according to a new study led by Brown University researchers. Reintroducing byglycan helped
Autism affects motor skills, study indicates
Audio available Children with autism often have problems developing motor skills, such as running, throwing a ball or even learning how to write. But scientists have not known whether those difficulties run in families or are linked to autism. New resear
How Does Autism Rewire The Brain?
Potential clues to how autism miswires the brain are emerging from a study of a rare, purely genetic form of a disorder that affects fewer than 20 people worldwide. Using cutting-edge technology, researchers funded by the National Institutes of Health ha
Genetics Home Reference: Fanconi anemia
Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. The major function of bone marrow is to produce n
An Update on Amelia
By Tim Shriver Several weeks ago, I wrote about a young girl named Amelia Rivera who was denied consideration for a kidney transplant at the Children’s Hospital of Philadelphia because she was, according to her doctors, “mentally retarded.” Amelia is now in the process of being considered again for a transplant. Our lesson is that we cannot let Amelia’s story be an isolated call to arms. We must continue to seek change and advocate for the dignity of every human life.
Surgery Effective for Tough-to-Treat Epilepsy
TUESDAY, Feb. 7 (HealthDay News) -- Surgery can significantly improve seizure control and quality of life among people with epilepsy, according to a study stretching over 26 years. "This study may be the longest follow-up of epilepsy surgery patients in
Outcry over disabled girl’s transplant care renews eligibility debate
A parent's anguished online plea for an organ transplant for her developmentally disabled daughter and new research on kidney transplantation eligibility among elderly patients have refocused attention on the vexing decisions that face physicians who det
Dr. Jill Bolte Taylor’s Stroke of Insight
Jill Bolte Taylor This TedTalk by Jill Bolte Taylor is a testimony to the power of presuming competence and importance of a nurturing, positive environment when learning. Neuroanatomist Jill Bolte Taylor woke up one morning and realized she was having a massive stroke. Bolte Taylor details her experience as her left brain slipped away and she was left without language, awareness of time. But, instead of being terrified she was intrigued and serene. As her left brain's stopped functioning she experienced the wonders of her right brain. She was fully present, connected to everything, thought in pictures, was inundated with sensory information
Dr. Jill Bolte Taylor
Dr. Jill Bolte Taylor is a Harvard-trained and published neuroanatomist who experienced a severe hemorrhage in the left hemisphere of her brain in 1996. On the afternoon of this rare form of stroke (AVM), she could not walk, talk, read, write, or recall any of her life. It took eight years for Dr. Jill to completely recover all of her functions and thinking ability. She is the author of the New York Times bestselling memoir My Stroke of Insight: A Brain Scientist's Personal Journey (published in 2008 by Viking Penguin). In 2008, Dr. Jill gave a presentation at the TED
Minnesota Gov’s Council on Dev. Disabilities: Organ Transplants
The Minnesota Governor's Council on Developmental Disabilities Lives Worth Saving: Organ Transplantation and People with Disabilities In 1995, Sandra Jensen was denied a heart/lung transplant. The transplant had been recommended by her attending physician. It was the only way to save her life. The transplant had even been approved by her insurer, MediCal. The problem - two California transplant centers refused to save Sandra's life.The good news - Sandra got her heart and lung transplant. She was the first person with Down Syndrome in the world to do so. With the help of friends and supporters, Sandra attracted national
Brick Walls
“Oh, that’s ok! We plan on donating. If we aren’t a match, we come from a large family and someone will donate. We don’t want to be on the list. We will find our own donor.” “Noooo. She—is—not—eligible –because—of—her—quality– of –life—Because—of—her—mental—delays” He says each word very slowly as if I am hard of hearing. “STOP IT NOW!” The anger is taking over. Thank God. Why did it take so long to get here? The social worker is writing some things down.
Genetics 101 Part 4: What is phenotype?
Discover how your observable traits, or phenotypes, are the result of interactions between your genes and environment.
Genetics 101 Part 2: What are SNPs?
Learn about the variations in human DNA called SNPs, and how they can be used to understand relationships between people.
Genetics 101 Part 1: What are genes?
Find out about the basics of cells, chromosomes, and the genes contained in your DNA.
The Global Genes Project
Rare Disease affects over 350 million people worldwide, and the largest percentage are children. There are over 7,000 rare diseases that have been identified all with very unique needs, but many with little to no support. Although each individual disease may only impact a few, together the impact is in the millions. Rare disease is not so rare. The Global Genes Project is broadly promoting the needs of the rare disease community, engaging the general public, garnering corporate support, under the "unifying symbol of hope" – the blue denim ribbon. The Global Genes Project is a program of R.A.R.E. Project, a
Addi & Cassi Fund
Our names are Addison and Cassidy Hempel and we are 7 year old identical twin girls who live in Reno, Nevada. In October 2007, after a two year medical odyssey, we were diagnosed with a ultra rare and fatal cholesterol disease that affects only 500 people worldwide. The disease is called Niemann Pick Type C (NPC) and the condition is frequently referred to as “Childhood Alzheimer’s.” NPC is ultimately fatal in childhood and we are in a battle for our lives.
Stephen Hawking- Asking big questions about the universe
Professor Stephen Hawking asks some big questions about our universe -- How did the universe begin? How did life begin? Are we alone? -- and discusses how we might go about answering them.
Autism Support Network
The mission of Autism Support Network is conveyed in our tagline: connect, guide and unite. Our goal is to short-cut the uphill battle individuals and families undertake when faced with autism – whether that means the initial diagnosis, the day-to-day living and coping needed, relationship and therapeutic strategies and the latest information.
Saving Grace
Addison Lennon met all her early milestones: she sat up on time, crawled on time and walked on time. At about 4 months, however, she had a seizure, and her parents started to worry. By 9 months, her head appeared small for her age. Her neurologist reassured the family that Addison could still be within the lowest 5 percent of the normal range. "We were thinking she was typical," says Kari Lennon, "she would be in that 5 percent." At 15 months, however, Addison had another seizure that was a lot more severe. She had been tested for
Boy With Down Syndrome Becoming an Unlikely Ad Star
One young man is making great strides in the modeling world despite what many might see as a significant impediment—he has Down syndrome. His name is Ryan, and he appears on page 9 of the new Target circular, just a few months after making an appearance
A rare disease gets a new champion
A hedge fund manager and his battalion of scientists are hunting down a cure for Spinal Muscular Atrophy A new $490 million business deal pits pharmaceutical companies against each other in a race to develop drugs for a rare genetic disease: Spinal Muscular Atrophy (SMA). One in 8,000 babies is born with SMA compared to one in 4,000 born with Cystic Fibrosis, a similar degenerative disease that has garnered much more public attention and fundraising.
The other side of Down syndrome: DS parents say their children have improved their outlook on life
Matt and Meghan Wilkinson at home playing with their sons. The Wilkinsons say Down syndrome is just a small part of what defines their boys. Twin nineteen-month-old brothers Casey, left, and Connor play at their home in Cuyahoga Falls, Ohio. The twins we
RIT Offers National Writing and Arts Competitions for Deaf and Hard-of-Hearing Students
Deaf and hard-of-hearing high school students are encouraged to enter two creative competitions for cash prizes offered by Rochester Institute of Technology (RIT). The first contest is the RIT Digital Arts, Film and Animation Competition for Deaf and Har
Hannah’s Buddies
The Hannah's Buddies Charity Classic began in 2000 with John Bell of Widespread Panic deciding to help his goddaughter and tens of thousands of children in their fight against SMA. Today, the golf tournament, silent/auction and concert lineup attracts more than 2,000 participants and has raised nearly $2 million for SMA research. Spinal Muscular Atrophy is a neuromuscular disease that affects between 1 in 6,000 and 1 and 20,000 births. Over time, SMA causes muscles to become weak and considerably smaller. On average, 1 in 40 people are genetic carriers.
Fight SMA
Founded in 1991, FightSMA is a US-based international nonprofit organization working to find a cure for spinal muscular atrophy, (SMA), a neuromuscular disease that is the leading inherited killer of children under two.
Mito Action
MitoAction's vision is to create a community of support that reaches every child, adult, and caregiver affected by a mitochondrial disease. Effective awareness and advocacy will guarantee that every patient has access to specialized care and a network of support and information that improves the journey for every individual affected.
Office of Rare Diseases
The ORDR Web site aims to answer questions about rare diseases and the activities of the ORDR for patients, their families, healthcare providers, researchers, educators, students, and anyone with concern for and interest in rare diseases. The site provides information about ORDR-sponsored biomedical research, scientific conferences, and rare and genetic diseases. It also serves as a portal to information on major topics of interest to the rare diseases community.
Hydrocephalus Association
The Hydrocephalus Association provides support, education and advocacy for people whose lives have been touched by hydrocephalus and the professionals who work with them. We strive to ensure that families are empowered with educational materials, informed about the latest research, and have access to quality health care. We advocate for increased research and funding to advance understanding, improve diagnosis and treatment, and find a cure.
Epilepsy Foundation
The Epilepsy Foundation of America® is the national voluntary agency dedicated solely to the welfare of the almost 3 million people with epilepsy in the U.S. and their families. The organization works to ensure that people with seizures are able to participate in all life experiences; to improve how people with epilepsy are perceived, accepted and valued in society; and to promote research for a cure.
Online Mendelian Inheritance in Man (OMIM)
OMIM is a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources.
NORD – National Organization for Rare Disorders
The National Organization for Rare Disorders (NORD), a 501(c)(3) organization, is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.
National Fragile X Foundation
The National Fragile X Foundation unites the Fragile X community to enrich lives through educational and emotional support, promote public and professional awareness, and advance research toward improved treatments and a cure for Fragile X.
The National Association for the Dually Diagnosed
NADD is a not-for-profit membership association established for professionals, care providers and families to promote understanding of and services for individuals who have developmental disabilities and mental health needs. The mission of NADD is to advance mental wellness for persons with developmental disabilities through the promotion of excellence in mental health care. NADD's Mission "To advance mental wellness for persons with developmental disabilities through the promotion of excellence in mental health care."
Hearing Loss in the Classroom
Great simulation by Pediatric Audiology Project on what it's like to be hearing impaired in the classroom. It's much harder than you think!
Classroom Simulation of Student Who Is Deaf or Hard of Hearing
An amazing simulation of what speech sounds like for hearing impaired student by the Vermont Center for Deaf and Hard of Hearing, Inc. You will be shocked! This simulation allows you to experience the challenges a hearing impaired student faces in the classroom, with and without a personal FM sytem. We had no idea it was this hard for hearing impaired students to hear what's being said in a typical classroom environment.
National Association of the Deaf (NAD)
The NAD is the nation's premier civil rights organization of, by and for deaf and hard of hearing individuals in the United States of America. Established in 1880, the NAD was shaped by deaf leaders who believed in the right of the American deaf community to use sign language, to congregate on issues important to them, and to have its interests represented at the national level. These beliefs remain true to this day, with American Sign Language as a core value. The advocacy scope of the NAD is broad, covering a lifetime and impacting future generations in the areas of
A Mother’s Determination And Next Generation Sequencing
When Noah and Alexis Beery were diagnosed with cerebral palsy at age 2, their parents thought they at last had an answer to the problems that had plagued their twin infants from birth. However, that proved only a way station on a journey to find an answer to the children's problems that combined their mother's determination, the high tech world of next-generation sequencing in the Baylor Human Genome Sequencing Center (HGSC) and the efforts of talented physicians from across the country. When the twins reached age 4, it became apparent to their parents that the diagnosis of cerebral palsy did not match the problems
The Affordable Care Act
Senior advisor to the President Valerie Jarrett and Secretary of Health and Human Services Kathleen Sebelius speak to parents, advocates and experts at an Autism Awareness Month Conference.