NYT: Down Syndrome and Quality of Life, continued

Letters to the editor.

Re “The Truth About Down Syndrome,” by Jamie Edgin and Fabian Fernandez (Op-Ed, Aug. 29):

Two and a half years ago, I had the very choice the biologist Richard Dawkins and others deem so simple. Continue my pregnancy with a Down syndrome fetus, or terminate? I was 37, happily married, with one nondisabled child.

I have a Harvard degree and a graduate degree, and somehow the utilitarian calculus Mr. Dawkins cherishes (not to mention notions of what might happen 40 or 50 years down the line) provided zero assistance in that moment.

It was simply: Do my husband and I feel able to care for a child with a lifelong disability, whose severity we cannot determine but who will most certainly be significantly compromised? Who will also be able to love and be loved, and achieve within the limitations we all bear?

We went ahead, and I can only say our son has healed the doubt and fear in our hearts.

RACHEL SIEGEL

Great Barrington, Mass., Aug. 29, 2014

 

To the Editor:

Jamie Edgin and Fabian Fernandez write that virtually all children with Down syndrome will develop Alzheimer’s disease later in life. They write about this probability as if it were a mosquito bite, not the exhausting, nightmarish and costly situation that it is, with no upside whatsoever.

This occurs when the “child” is 40, and the parents, therefore, in their 60s or 70s, and badly in need of rest and time for themselves.

The “truth” about Down syndrome and dementia is that when you are faced with them, you deal as best you can, but you should not be talked into choosing them if it’s possible to make another decision for yourself and your child.

SUE W. RANSOHOFF

Cincinnati, Aug. 29, 2014

To the Editor:

As a mother of two children with Down syndrome and a concerned citizen, I question the wisdom of trying to predict quality of life based only on someone’s genes. Jamie Edgin and Fabian Fernandez carefully made the point that having Down syndrome does not hamper the ability to lead a happy, fulfilling life.

To be sure, not every person with Down syndrome is a happy person leading a rewarding life. There are grumpy, poorly behaved people with Down syndrome. There are plenty of those in the general population, too. The truth about people with Down syndrome is that they are individuals; most are happy, some are sad, some are smart, others not so much. They all add value and diversity to our society.

Now, when their existence is under severe threat because of advances in prenatal screening, I applaud every effort to underline the positive facts about living with Down syndrome.

RENATE LINDEMAN

Heiloo, the Netherlands, Sept. 1, 2014

 

To the Editor:

While I respect Richard Dawkins’s expertise and scholarship on Darwin and evolution, I take issue with his views on Down syndrome.

My son, Jason Kingsley, who has Down syndrome, has co-written and published a book (“Count Us In: Growing Up With Down Syndrome”); plays the piano and violin; paints, lives and works in the community; and recently performed as Snug the Joiner in a New York City performance of “A Midsummer Night’s Dream.”

While not all people with Down syndrome will achieve at this level, it is not possible to predict at birth, and certainly not prenatally, what their level of accomplishment will be.

What is safe to say, however, is that my son will never be the chief executive of a large corporation who remorselessly cheats millions of people out of their life savings. He will never be a lawmaker obstinately determined to obstruct progressive legislation.

I question who brings more suffering into the world.

EMILY PERL KINGSLEY

Briarcliff Manor, N.Y., Sept. 2, 2014

The writer is a member of the advisory board of the National Down Syndrome Society.

original article

NYT: When the Caregivers Need Healing

“This has happened before,” she tells herself. “It’s nowhere near as bad as before, and it will pass.”

Robbie Pinter’s 21-year-old son, Nicholas, is upset again. He yells. He obsesses about something that can’t be changed. Even good news may throw him off.

So Dr. Pinter breathes deeply, as she was taught, focusing on each intake and release. She talks herself through the crisis, reminding herself that this is how Nicholas copes with his autism and bipolar disorder.

With these simple techniques, Dr. Pinter, who teaches English at Belmont University in Nashville, blunts the stress of parenting a child with severe developmental disabilities. Dr. Pinter, who said she descends from “a long line of the most nervous women,” credits her mindfulness practice with giving her the tools to cope with whatever might come her way. “It is very powerful,” she said.

All parents endure stress, but studies show that parents of children with developmental disabilities, like autism, experience depression and anxiety far more often. Struggling to obtain crucial support services, the financial strain of paying for various therapies, the relentless worry over everything from wandering to the future — all of it can be overwhelming.

“The toll stress-wise is just enormous, and we know that we don’t do a really great job of helping parents cope with it,” said Dr. Fred R. Volkmar, the director of Child Study Center at Yale University School of Medicine.

“Having a child that has a disability, it’s all-encompassing,” he added. “You could see how people would lose themselves.”

But a study published last week in the journal Pediatrics offers hope. It found that just six weeks of training in simple techniques led to significant reductions in stress, depression and anxiety among these parents. Continue reading NYT: When the Caregivers Need Healing

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

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

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

WashPost: Coping with adult children’s autism, parents may face ‘least bad’ decisions

Adult twins with autism locked in a barren basement room every night. No lights. No bed. Their parents charged with abuse.

The criminal allegations against Janice and John Land that erupted last week in Montgomery County have captured the attention of many — but no group more so than other parents who are caring for the growing number of autistic children entering adulthood.

“We can’t condone their choices,” says Mark Bucknam, a professor at the National War College who lives two miles from the Lands. Court papers say that the young men were kept in a room with no working lights and a comforter on a bare tile floor.

“But it’s possible that, in their minds, this was the least bad way to deal with this,” Bucknam says.

As he speaks, his 18-year-old son John starts to pace and moan in the kitchen. John typically won’t sit down for dinner until he and his parents are around the table, holding hands, his father saying the blessing. Mark walks toward the kitchen, past the locked front door, the locked door to the garage, the locked door to the basement. Those barriers, along with a tracking device John wears, the burglar alarm and the fence around the house, are designed to keep him from wandering off.

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WashPost: States’ special education services face tighter oversight by the Obama administration

The Obama administration is tightening its oversight of the way states educate special-needs students, applying more- stringent criteria that drop the number of jurisdictions in compliance with federal law from 38 to 15.

Under the new criteria, Maryland is among the states that no longer meet federal requirements, joining the District, which has been out of compliance for the past eight years. Virginia meets the demands of federal law under the new rules.

Congress has guaranteed severely disabled students the right to a “free and appropriate” education since 1975. The 1990 Individuals with Disabilities Education Act (IDEA) requires public schools to meet the educational needs of students with disabilities, an estimated 7 million students.

The federal Education Department distributes $11.5 billion annually to states to help pay for special education and monitors their performance.

Until now, the agency considered whether states evaluated students for special needs in a timely manner, whether they reported information to the federal government and met other procedural benchmarks.

Education Secretary Arne Duncan said Tuesday that his department for the first time will also consider outcomes: How well special-education students score on standardized tests, the gap in test scores between students with and without disabilities, the high school graduation rate for disabled students and other measures of achievement.

“Every child, regardless of income, race, background, or disability, can succeed if provided the opportunity to learn,” Duncan told reporters. “We know that when students with disabilities are held to high expectations and have access to the general curriculum in the regular classroom, they excel.”

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