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

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.”

read the article

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.”

read the article

NYT: Balancing Special-Education Needs With Rising Costs

Dylan B. Randall could not speak or stand. He never tasted food because he was fed through a gastric tube in his belly. He breathed through a ventilator; his own saliva would choke him unless a nurse cleared his throat every few minutes.

It was a daily struggle to keep Dylan alive, much less educate him. And when his public school could not deliver all the daily therapy the then 5-year-old was supposed to receive, his parents asked that New York City pay for what they believed was the kind of education Dylan needed: a private school for disabled children.

Rather than pay, however, the city decided to fight. For several months, the Randalls and their lawyers battled with city lawyers, until Nov. 18, when a hearing officer ruled in the family’s favor. Not only did the boy deserve placement in a private school, the hearing officer, Diane R. Cohen, said, but he was also owed hundreds of therapy sessions that the city had failed to deliver during his kindergarten year. “For a student who is unable to ambulate on his own and is dependent on the provision of therapies for every aspect of life’s functions, the failure to consistently provide related services is a serious impediment to the student’s well-being,” Ms. Cohen wrote.

read the article

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.

read the article

The Hill: Senate panel advances autism research bill

The Senate Health, Education, Labor and Pensions (HELP) Committee quickly approved legislation Wednesday to reauthorize federal autism research and services for five years.

The bipartisan bill, which now advances to the Senate floor, is identical to a measure passed by the House on Tuesday night and has a strong likelihood of becoming law this summer.
The bill’s approval in committee is a victory for autism advocates who pushed Congress to renew programs before lawmakers leave for the August recess. The underlying statute, the Combating Autism Act, is due to expire at the end of September unless it is extended.

The new legislation would require the Health and Human Services secretary to designate a deputy to oversee federal autism research and services. The official would help coordinate activities related to autism across federal agencies to ensure they are not duplicative.

The measure also orders the government to study the needs of autistic children as they transition to adulthood.

The HELP Committee advanced the measure on a voice vote Wednesday with no amendments, according to a committee spokeswoman.

It is called the Autism Collaboration, Accountability, Research, Education and Support (CARES) Act instead of the Combating Autism Reauthorization Act. The title change is a nod to individuals with autism who called the old name hurtful.

read more

WashPost: Spirit moves them: Fitness program is tailored to people with developmental disabilities

Don’t ever challenge Sam Smith to an enthusiasm contest.

The 29-year-old fitness instructor has the booming voice of a radio announcer, the optimistic outlook of a cheerleader and the boundless endurance of a marathon runner. (He’s finished four.) So when he starts a warmup by shouting, “Welcome to Spirit Club! Let’s clap it out,” it’s impossible not to put your hands together.

There’s no question the program Smith is leading deserves the applause. Spirit — which stands for “Social Physical Interactive Respectful Inclusive Teamwork” — offers classes that help clients with developmental disabilities build muscle, increase flexibility and improve their diets. As a population, they have limited opportunities when it comes to health, Smith says. “And a lot need more social interaction,” he adds.

What makes Smith such an expert? He’s a certified personal trainer, and he also has autism.

“Sam gets them engaged more than a typically functioning trainer would be able to,” says Jared Ciner, who launched Spirit in April 2013. Ciner had two jobs at the time: as a personal trainer at Sport & Health, the local gym chain, and as a support counselor with the Jubilee Association of Maryland, which provides residential services to disabled adults.

read the article

BBC: The parish councillor with Down’s syndrome

Stephen Green, 49, is one of just a handful of parish councillors with a learning disability in the United Kingdom.

Elected onto Nuthall Parish Council in Nottinghamshire last year, Green has Down’s syndrome and his dad, Grenville Green, assists him to be an active member of the community.

Parish councillors help organise events, fundraise for local charities and fix problems such as the classic pothole in the road.

Some may be surprised to hear that a man with Down’s syndrome can partake in community activities like this but is this because they fundamentally can’t do it, or because there isn’t enough support and access for equal participation?

Councillor Green says his greatest success has been to save the popular monthly Men’s Breakfasts in his parish by volunteering to gain a food hygiene certificate and so allow the early morning club to continue.

Video journalist: Kate Monaghan

visit the site and watch the video