WashPost Op Ed: When disabled children become adults, parents often are left with few options

This summer, readers of The Post learned about the horrible conditions in which twin 22-year-old autistic men were kept in their parents’ Rockville home. It is easy to blame the parents, but it’s not entirely their fault. Publicly funded services for the disabled are substantially reduced when they reach age 18 and are virtually eliminated, beyond personal and medical care, at age 21.

What happened to the Rockville family is heart-wrenching. The parents would not be in trouble if they had simply turned the children out on the street. Their legal obligation to care for them ended when the twins turned 18. But options for full-time, residential care are limited. In-home, round-the-clock care is prohibitively expensive for most families. The waiting list for services for the disabled can stretch to many years, if they are available at all, as I experienced with my son, who has autism. Continue reading WashPost Op Ed: When disabled children become adults, parents often are left with few options

NYT: The Truth About Down Syndrome

LAST week the biologist Richard Dawkins sparked controversy when, in response to a woman’s hypothetical question about whether to carry to term a child with Down syndrome, he wrote on Twitter: “Abort it and try again. It would be immoral to bring it into the world if you have the choice.”

In further statements, Mr. Dawkins suggested that his view was rooted in the moral principle of reducing overall suffering whenever possible — in this case, that of individuals born with Down syndrome and their families.

But Mr. Dawkins’s argument is flawed. Not because his moral reasoning is wrong, necessarily (that is a question for another day), but because his understanding of the facts is mistaken. Recent research indicates that individuals with Down syndrome can experience more happiness and potential for success than Mr. Dawkins seems to appreciate.

There are, of course, many challenges facing families caring for children with Down syndrome, including a high likelihood that their children will face surgery in infancy and Alzheimer’s disease in adulthood. But at the same time, studies have suggested that families of these children show levels of well-being that are often greater than those of families with children with other developmental disabilities, and sometimes equivalent to those of families with nondisabled children. These effects are prevalent enough to have been coined the “Down syndrome advantage.” Continue reading NYT: The Truth About Down Syndrome

NPR: People With Down Syndrome Are Pioneers in Alzheimer’s Research

When researchers at the University of California, San Diego wanted to an experimental Alzheimer’s drug last year, they sought help from an unlikely group: people with Down syndrome.

“I had a CAT scan on my head, and I was in a special machine. It’s called an MRI,” says Justin McCowan, 39, whose parents drove him 125 miles from Santa Monica so he could participate in the study. McCowan also took brain function tests and spent hours with a needle in his arm so researchers could monitor levels of certain chemicals in his blood.

Alzheimer’s researchers are increasingly interested in people like McCowan because “people with Down syndrome represent the world’s largest population of individuals predisposed to getting Alzheimer’s disease,” says , director of the Memory Disorders Clinic at UCSD.

Down syndrome is a genetic disorder that’s best known for causing intellectual disability. But it also causes Alzheimer’s. “By the age of 40, 100 percent of all individuals with Down syndrome have the pathology of Alzheimer’s in their brain,” Rafii says.

Down syndrome is caused by the presence of an extra copy of chromosome 21. And one of the genes on chromosome 21 happens to control the production of , the substance that forms the sticky plaques associated with Alzheimer’s.

Because their bodies produce extra amyloid, most people with Down syndrome develop problems with thinking and memory by the time they reach 60. Rafii has chronicled the decline of one of his patients, a woman named Irma, by collecting her signatures from medical forms over the years.

The first one is from 1999, when Irma was in her mid-50s. “You can see her signature is on the line, it’s clear, she wrote it in script,” Rafii says. By 2005, though, she has switched to large block letters. By 2009, Irma is misspelling her name. By 2011, “there are only a few characters written that resemble letters,” Rafii says. “And in the very last year it’s completely blank.”

People like Irma used to be rare because the medical problems associated with Down syndrome meant they rarely lived long enough to get dementia. Today, though, better medical treatments mean people with the disorder often live into their 60s.

And that has created a huge opportunity for Alzheimer’s research, says , chairman of the neuroscience department at UCSD. “This is the one group in the world that you could argue would benefit most by the institution of early therapy,” he says.

Early therapy means starting people on drug treatment years before the symptoms of Alzheimer’s appear. The approach has been hard to test because, in the general population, there’s no good way to know who is going to develop Alzheimer’s. But for people with Down syndrome, it’s a near certainty.

Justin and his mother, Annamarie McCowan, make a salad together.

Justin and his mother, Annamarie McCowan, make a salad together.

Finding a drug that prevents Alzheimer’s in people with Down syndrome could help millions of people who don’t have the disorder, Mobley says. “This approach to treating Alzheimer’s disease might apply to all of us,” he says. “Imagine someday a drug that we all start taking when we’re 25 so we never get Alzheimer’s disease.”

That’s a long-term goal. But already, people with Down syndrome are making a difference in Alzheimer’s research. Early work with Down patients helped confirm the importance of amyloid. More recently, people with the disorder helped test an eye exam that may offer a simple way to screen for Alzheimer’s.

And then there’s the study that Justin McCowan signed up for. It involves a drug from Transition Therapeutics that, in mice, can prevent the brain changes associated with Alzheimer’s. Scientists hope the drug can do the same thing in people, including those with Down syndrome.

McCowan says he volunteered for the study because he wants to help other people, especially a friend of his named Maria, who also has Down syndrome. “I feel very sad about Maria because she doesn’t remember anything,” McCowan says.

His parents, Don and Annamarie McCowan, say their son’s memory is still sharp. They hope that what scientists are learning from people like Justin will keep it that way.

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NYT: Study Finds That Brains With Autism Fail to Trim Synapses as They Develop

As a baby’s brain develops, there is an explosion of synapses, the connections that allow neurons to send and receive signals. But during childhood and adolescence, the brain needs to start pruning those synapses, limiting their number so different brain areas can develop specific functions and are not overloaded with stimuli.

Now a new study suggests that in children with autism, something in the process goes awry, leaving an oversupply of synapses in at least some parts of the brain.

The finding provides clues to how autism develops from childhood on, and may help explain some symptoms like oversensitivity to noise or social experiences, as well as why many people with autism also have epileptic seizures.

It could also help scientists in the search for treatments, if they can develop safe therapies to fix the system the brain uses to clear extra synapses.

The study, published Thursday in the journal Neuron, involved tissue from the brains of children and adolescents who had died from ages 2 to 20. About half had autism; the others did not.

The researchers, from Columbia University Medical Center, looked closely at an area of the brain’s temporal lobe involved in social behavior and communication. Analyzing tissue from 20 of the brains, they counted spines — the tiny neuron protrusions that receive signals via synapses — and found more spines in children with autism. Continue reading NYT: Study Finds That Brains With Autism Fail to Trim Synapses as They Develop

Teens With Down Syndrome Become Football Team Captains, Win Hearts Everywhere

Two Texas teens with Down syndrome had the night of their lives last Friday, when the best friends were named honorary team captains for their high school football team.

Local news outlet WFAA reports Blake Pyron and Austin Waters, incoming seniors at Sanger High School in Denton County, Texas, have long supported the school football team, often fetching water for players. Last year, the two led the players out of the tunnel before every game.

As a thank-you for their continued support, both became members of the team at an assembly last Friday, complete with their own team jerseys. And to say they were excited would be an understatement.

“It was awesome. …They had a smile as big as Texas,” team coach Chuck Galbreath told WFAA. Added senior defensive end Collin Jones: “It humbled me, is what it did.”

Might Blake and Austin eventually take a page from the playbook and go for a touchdown? It happened last year at a high school in Wisconsin, when Noah VanVooren, a senior with Down syndrome, was invited onto the football field for the first time — and ran the ball into the end zone for a touchdown.

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Disability Blog: IDD Toolkit Offers Information to Improve Health Care for Adults with Intellectual and Developmental Disabilities

As the parent of a son with autism who has recently become an adult, one of my big concerns has been who will provide his medical care when he ages out of his pediatrician’s practice. Also, as a parent volunteer with a local autism organization, I often get phone calls from parents seeking medical care for their young adult children with autism.

While some areas may have specialists known as med-peds physicians who are trained as both internists and pediatricians, most patients with disabilities receive their primary care from an internist or a family practice physician. Many physicians receive little training in caring for adults with intellectual or other developmental disabilities, and many have little experience with this underserved population.

We know from research that adults with intellectual or other developmental disabilities, such as autism or Down syndrome, frequently face a cascade of health disparities. They may:

-have complex, multiple or difficult-to-treat medical conditions
-experience difficulty accessing health care, either because of physical barriers or financial barriers
-receive inadequate health care
-have difficulties expressing their symptoms and pain
-receive little attention to wellness, preventive care and health promotion

And these adults deserve quality, patient-centered health care.

The Special Hope Foundation, of Palo Alto, Calif., saw this need and provided funding for the IDD Toolkit, a website devoted to medical information for the health care of adults with intellectual and developmental disabilities (IDD). The toolkit came online earlier this year, and is accessible on a PC, tablet or smartphone. As of early August, the site has had more than 11,000 visits with more than 33,500 page views.

The toolkit offers best-practice tools and information regarding specific medical and behavioral concerns of adults with IDD, including resources for patients and families. The website is divided into four categories: General Issues; Physical Issues; Health Watch Tables; and Behavioral and Mental Health Issues. Continue reading Disability Blog: IDD Toolkit Offers Information to Improve Health Care for Adults with Intellectual and Developmental Disabilities

AP: Decade On, Separate Lives for Once-Conjoined Twins

SCARSDALE, N.Y. (AP) — One twin uses an iPad, plays video games and dances to Michael Jackson tunes. The other has significant, possibly permanent, problems walking and talking.

The delicate separation 10 years ago of conjoined twins from the Philippines wasn’t perfect, but the boys’ mother says their very survival is reason enough to celebrate the anniversary.

“When they were born, the doctors at home told me, `You have to choose which one is to live,'” Arlene Aguirre said. “I said, `I cannot choose that.’ The doctors here did not ask me to choose.”

The boys, now 12, were born joined at the top of their heads, unable to sit up, stand straight, eat normally – or see each other.

Once their case was accepted by the Children’s Hospital at Montefiore Medical Center in the Bronx, leaving Carl and Clarence conjoined was not an option.  Continue reading AP: Decade On, Separate Lives for Once-Conjoined Twins

NYT: The Kids Who Beat Autism

At first, everything about L.’s baby boy seemed normal. He met every developmental milestone and delighted in every discovery. But at around 12 months, B. seemed to regress, and by age 2, he had fully retreated into his own world. He no longer made eye contact, no longer seemed to hear, no longer seemed to understand the random words he sometimes spoke. His easygoing manner gave way to tantrums and head-banging. “He had been this happy, happy little guy,” L. said. “All of a sudden, he was just fading away, falling apart. I can’t even describe my sadness. It was unbearable.” More than anything in the world, L. wanted her warm and exuberant boy back.

A few months later, B. received a diagnosis of autism. His parents were devastated. Soon after, L. attended a conference in Newport, R.I., filled with autism clinicians, researchers and a few desperate parents. At lunch, L. (who asked me to use initials to protect her son’s privacy) sat across from a woman named Jackie, who recounted the disappearance of her own boy. She said the speech therapist had waved it off, blaming ear infections and predicting that Jackie’s son, Matthew, would be fine. She was wrong. Within months, Matthew acknowledged no one, not even his parents. The last word he had was “Mama,” and by the time Jackie met L., even that was gone.

In the months and years that followed, the two women spent hours on the phone and at each other’s homes on the East Coast, sharing their fears and frustrations and swapping treatment ideas, comforted to be going through each step with someone who experienced the same terror and confusion. When I met with them in February, they told me about all the treatments they had tried in the 1990s: sensory integration, megadose vitamins, therapeutic horseback riding, a vile-tasting powder from a psychologist who claimed that supplements treated autism. None of it helped either boy.

Together the women considered applied behavior analysis, or A.B.A. — a therapy, much debated at the time, that broke down every quotidian action into tiny, learnable steps, acquired through memorization and endless repetition; they rejected it, afraid it would turn their sons into robots. But just before B. turned 3, L. and her husband read a new book by a mother claiming that she used A.B.A. on her two children and that they “recovered” from autism. The day after L. finished it, she tried the exercises in the book’s appendix: Give an instruction, prompt the child to follow it, reward him when he does. “Clap your hands,” she’d say to B. and then take his hands in hers and clap them. Then she would tickle him or give him an M&M and cheer, “Good boy!” Though she barely knew what she was doing, she said, “he still made amazing progress compared with anything he’d gotten before.”

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NYT: A New Explanation for ‘New’ Man

A discovery in a cave on the Indonesian island of Flores, reported 10 years ago, moved one scientist to hail it as “the most important find in human evolution for 100 years.” The fragmentary bones, but only one full skull, of several individuals led the discoverers to conclude that these were remains of a previously unknown extinct species of humans.

The Australian and Indonesian scientists named the species Homo floresiensis. Some took to calling these unusually little people, who had apparently lived on the island as recently as 15,000 years ago, the hobbits. It was mystifying that people with brains apparently no larger than a chimpanzee’s, one-third that of modern Homo sapiens, would have been capable of making the stone tools found in the cave around them.

From almost the beginning, a few skeptics raised warning flags. Was the one skull sufficient evidence of a distinct human species? These people were small, yes, but how could the Flores skull be proved normal and not that of a modern human with any of a number of growth disorders that shrink the head and brain?

The skeptics have now revived the debate with two papers published on Monday in The Proceedings of the National Academy of Sciences. One article points out what are said to be flaws in the original research reports. The second one describes evidence suggesting the individual was born with Down syndrome.

Among the flaws, the critics say, were underestimates of the stature and the brain size of the most complete skeleton, designated as LB1, from Liang Bua Cave. In their view, LB1’s stature was a little more than four feet tall, not 3.5 feet as in the original estimate. New measurements of the possible brain size were likewise large.

The authors of the first journal paper — Robert B. Eckhardt and Alex S. Weller of Penn State University, Maciej Henneberg of the University of Adelaide, in Australia, and Kenneth J. Hsu of the National Institute of Earth Sciences in Beijing — concluded that the defining features of the specimen as originally described “do not establish the uniqueness or normality necessary to meet the formal criteria for a type specimen of a new species.”

The lead author of the second paper on the Down syndrome hypothesis was Dr. Henneberg, a professor of anatomy and pathology, with Dr. Eckhardt, a professor of developmental genetics and evolution, as a co-author.

Based on a re-examination of the available evidence, the researchers said the revised dimensions of the LB1 cranium and femur fell in the range predicted for an individual with Down syndrome from that region of Indonesia. The larger size estimate also matches that of some people today on Flores and other Pacific islands.

The scientists also pointed to the skull’s asymmetry, a left-right mismatch of facial features, as characteristic of people with Down syndrome, one of the most common developmental disorders in humans. They noted that it occurred in more than one human birth per 1,000.

Other scientists who tended to accept the new-species interpretation have so far rejected what they call the “sick hobbit hypothesis.” Dean Falk, an anthropologist at Florida State University who specializes in brain evolution, used CT scans of the Flores cranium that she said showed no sign of growth disorders.

Last year, Karen L. Baab of Stony Brook University and colleagues reported on a comprehensive study of the cranium, showing that it was “clearly distinct” from skulls of healthy modern humans.” They said the findings “counter the hypothesis of pathological conditions.”

So far, searches in other caves on Flores and elsewhere have failed to yield the additional bones, especially more skulls, needed to determine if LB1 is one of a kind or one of an extinct human species, Homo floresiensis. Until then, Dr. Eckhardt said, the new analysis yielded a “less strained explanation” than adding another branch to the human family tree. The signs, he said, “point rather clearly to Down syndrome.”

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Disability.gov: Presidential Proclamation on the 24th Anniversary of the Americans with Disabilities Act

Read President Obama’s proclamation celebrating the 24th anniversary of the Americans with Disabilities Act (ADA).

The ADA provides civil rights protections for Americans with disabilities so they have equal access to participate in the classroom, workplace and in their communities. For more information about the ADA, visit ADA.gov or read “10 Things You May Not Know about the ADA.

Visit Presidential Proclamation on the 24th Anniversary of the Americans with Disabilities Act