I was speaking last night to the director of the new YAI Autism Center, for which I’ve written two blogs. “Beautifully written,” the good doctor said of them, so naturally I thought he was a pretty sharp guy.

“I’m curious to see how the blog will develop,” he continued. “It seems that often when a center like ours has a blog, it finds itself having to take some stand. I was wondering what your views are?”

Oh. In the whole cause-of-autism thing? Yes.

I have no stand.  I usually answer that better minds than mine are working on this. Premature birth? Vaccines? Phases of the moon? All are good candidates. I’ve read up on the vaccine/mercury versus non-vaccine/mercury debate, most recently in Autism’s False Prophets, and I haven’t settled on either side. I am certain, however, that something’s responsible for Alex still liking “Elmo” and “Dragon Tales” at nearly age 11.

So I dredged what I could recall from Alex’s vaccination schedule from back when Bill Clinton was still president and Godzilla was the hot summer movie, but honestly, when your first baby lives in a plastic box and you must leave him in a hospital night after night and you still have what will be a full year ahead of you of more of the same, the shot slate doesn’t stick in your mind — especially if it’ll be a long time before you realize that slate’s potential importance.

I do know what side I fall on in the debate: on the side of not believing you have a lock on the whole truth, and not on the side of making death threats to those who publicly oppose your views. The unending ability of people in a terrifying situation to fragment, takes your breath away.

The doctor talked to me about the latest research and I agreed it sounded promising, and I assured him that if he stumbled across a cure I’d be one of the first in line. But, last I leaned on the crutch of the Layman Parent Writer:

“My opinion,” I said, ”is that I fear for Alex’s adulthood.” That certainly seemed to be something we agreed on.

***

Visit YAI’s Autism Center Community here.

“Toddler Brain Difference Linked to Autism,” from CNN.

Researchers find first common autism gene, from Reuters.

(Image: taoism.about.com)

“UW researchers have discovered that people with autism have a more intense response to looking at faces (http://uwnews.washington.edu/ni/article.asp?articleID=48118) than the average Joe. The more social impairment, in fact, the more intense the response to someone’s face. The UW Autism Center’s Natalia Kleinhans says, ‘What we are seeing is hyper-excitability or over-arousal of the amygdala, which suggests that neurons in the amygdala are firing more than expected.’ The amygdala’s emotional tagging helps you make decisions, remember things, and identify faces. Without the right emotional response, face-recognition gets a little squirrely…”

Image: sxc.hu

There’s more. Kleinhans’ research abstract is at http://ajp.psychiatryonline.org/cgi/content/abstract/appi.ajp.2008.07101681v1?maxtoshow=&HITS=10&hits=10&RESULTFORMAT=&fulltext=Kleinhans&searchid=1&FIRSTINDEX=0&sortspec=relevance&resourcetype=HWCIT.

A few years back I had the pleasure of hearing a 60-something man with autism speak at the YAI conference in New York. Since Alex was still pretty much non-verbal then (getting better now), this gentleman was a trove of insights into what I suspected was my son’s isolated world. One of the man’s comments that stood out: For many years, direct eye contact was actually physically painful to him.

“Jeff,” Jill said of Alex when he was a few months old, “he doesn’t look at me…”

Alex has a nystagmus, an involuntary rhythmic shaking or wobbling of the eyes. He has learned to compensate by looking out of the side of his eyes; when he does this, the wobble stops.

“Maybe it’s his eyes,” his pre-school teacher once said about his seeming inability to learn a certain subject. I feared the problem was not so much his eyes as where his eyes were sending their message. Besides, he could spot a 3-inch tall Elmo finger puppet from across a crowded room. Still can. He meets my eye squarely, too, when he wants to know something about writing, or wonders where I hid the pretzels.

They took to this question over on LinkedIn, so I’ll pose it out here, too: If you have a child with autism, what do you think will be the best thing about their adulthood?

From Mary Jo at the Blisstree Travel blog comes the article, “Why Autism Won’t Look You in the Eye via Seattlest

“Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities”—-these are noted in one of the DSM-IV criteria for Autism Spectrum Disorder. A study published in the December 10th Neuron has found that reducing the activity of the gene FKBP12 in the brains of mice affected their synapses, and increased obsessive behavior and “fearful memory.” As noted in today’s Science Daily:

The protein FKBP12 regulates several important cell signaling pathways, and decreasing its activity enhances long-term potentiation in the hippocampus, said Dr. Susan Hamilton, chair of molecular physiology and biophysics at [Baylow College of Medicine] and a senior author of the report. (Long-term potentiation means the enhancement of the synapse or communication between neurons.)

It accomplishes this by fine-tuning a particular pathway called mTOR signaling (mammalian target of rapamycin). The mice in whose brains the activity of the gene was reduced had longer memories and were more likely to exhibit repetitive behaviors than normal mice.

Researchers suggest that their findings might lead to the develop of drugs for autism and also for obsessive compulsive disorders.

Although—-what about the use of such repetitive actions to calm and self-soothe?

An article in the November Journal of the American Medical Association by researchers at the UC Davis M.I.N.D. Institute calls for Fragile X testing throughout the lifespan. The genetic mutation that is linked to Fragile X, fragile X mental retardation 1 (FMR1), also gives rise to a “family of disorders occurring throughout the entire life span, including the most common heritable form of intellectual disability, fragile X syndrome, and premature menopause (primary ovarian insufficiency).” Further mutations of the gene also are the cause of fragile X–associated tremor/ataxia syndrome (FXTAS), which is “one of the most common single-gene, late-onset neurodegenerative disorders.” Researchers note that, while it might be thought that these disorders are rare, such an assumption is “both false and unwise”; mutations of FMR1 can affect people at different times in their lives. Newborn screening for Fragile X is also being considered.

The research was undertaken by Randi J. Hagerman, MD, director of the Fragile X Research and Treatment Center at the M.I.N.D. Institute, and Paul J. Hagerman, MD, PhD, director of the UC Davis NeuroTherapeutics Research Institute (NTRI). As noted in Science Daily:

Abnormalities in the fragile X gene fall into two categories: those caused by the full mutation and those associated with the premutation.

The full mutation involves greater than 200 copies of a three-nucleotide sequence (CGG) in the FMR1 gene found on the X chromosome.Normal individuals typically have fewer than 40 repeats.

The premutation involves 55-200 CGG repeats in this gene. Individuals with the premutation are known as carriers and the children of female carriers are more likely to be born with the full mutation.

30 percent of boys with the FMR1 are diagnosed with autism and Fragile X syndrome is “the most commonly known single-gene cause of autism,” and is linked to between 2 and 6 percent of autism cases.

On life raising a child with Fragile X, Clare Dunsford’s Spelling Love With an X: A Mother, a Son, and the Gene That Binds Them is a must, and a good, read (and one I must recommend to the library, or if you’re in a book-giving mood for holidays.)

Autistic children responded to sounds one-fiftieth of a second slower than a group of non-autistic children in research conducted at Children’s Hospital of Philadelphia. 64 autistic children aged 6 to 15 listened to a series of rapid beeps through headphones while wearing a helmet-like device. The device recorded their brain’s response to the sounds and their brain waves were then compared with responses in a group of non-autistic children. From the Associated Press via First Coast News:

“We tend to speak at four syllables per second,” said Timothy Roberts, the study’s lead author and the hospital’s vice chairman of research. If an autistic brain “is slow in processing a change in a syllable … it could easily get to the point of being overloaded.”

Researchers now need to test these preliminary findings on younger children, and hope that their technique—-which use noninvasive technology called magnetoencephalography (MEG)—might be used to diagnosed children as young as 1 with autism. The results of the study will be reported tomorrow at the Radiological Society of North America meeting in Chicago.

Other methods currently being developed to diagnose autism in very young (1 year and under) children involve studying babies’ eye movements and eye tracking; looking at whether a toddler focuses on another person’s mouth and eyes, and assymetry in infants.

Auditory processing delay is something that Charlie has had all along. When he was a year and two years old, I wasn’t yet able to understand how not being able to “process” sounds did not mean that he had a hearing disability. While he seems to hear everything, his responses are different and, indeed, often delayed.  How might the new method being developed distinguish between a child who might be autistic and a child with a hearing problem?

“Faceblindness” has been associated with autism, as written about by Donna Williams and Joe at This Way of Life. About two percent of the population has faceblindess or congenital prosopagnosia, according to today’s Science Daily. A team of scientists has been able to devise a biological explanation for faceblindness. In those who have it,

“there was a reduction in the integrity of the white matter tracts in the brains of individuals with congenital prosopagnosic. Moreover, the extent of the reduced white matter circuitry was related to the severity of the behavioral impairment.

White matter is one of the three main solid components of the central nervous system. The white matter is the tissue through which messages pass between different areas of grey matter within the nervous system. People with congenital prosopagnosia are not able to recognize faces, while the ability to recognize other objects may be relatively intact.

This discovery of reduced white matter circuitry could also lead to further understanding of other neurodevelopment disorders, such as developmental dyslexia, in which the same underlying neural alterations might be present. The findings are also important as congenital prosopagnosia is, in many cases, inherited and so studies of this sort can help us understand the relationship between genetics and cortical development.

I’m honestly not sure whether Charlie has “congenital prosopagnosia” or now. He’s never forgotten the name of a therapist or teacher—-he pauses when we reel them off to him (there’s been a lot). But it might be their voices or the way their held their bodies, or a certain colored shirt they wore one day that he remembers them by. Faces—voices—body posture—height—a particular article of clothing—names: How do you recognize people?

McDonalds. Burger King.

They’re the competition.

Not against Guardians of Healthy (and Happy) Meals.

They’re competition for staff—for workers—for disabled adults who need support in their living, work, and other arrangements.

And, if you cook burgers and fill drinks at a fast-food restaurant, you don’t need the sort of training—which can be extensive—that can be called for in assisting some disabled adults.

Emily Homer of VOCA of Maryland D.C. made this point at last week’s IACC meeting and it sobered the atmosphere in the room up. She noted that, if Americans won’t take these kinds of jobs for those wages, it’s likely that people will turn to immigrants to fill the positions—-and I thought about how at least half of the bus drivers that Charlie has had are (usually women) from Latin America, Pakistan, or Russia; about how both my 104-year-old grandmother and my in-laws have live-in workers who are from other countries. (My grandmother only speaks Cantonese and someone who can speak her dialect is essential; my in-laws, and the rotation of nurses who live full-time with them, have had more of an adjustment to make.)

Teaching, spending time with Charlie, sitting through unhappy moments, running really fast down a hill on a cold November afternoon together, standing beside him to practice using a calculator: How to spread the word that doing these are worth it, and then some?

While studying drug abuse and addiction, researchers at the Ohio State University College of Medicine have found a link between nicotine addiction and autism. Neurexins are proteins that, along with neurologins, are thought to play a key role in the formation and functioning of synapses, of connections between nerve cells. In the new study, a protein made by the neurexin-1 gene was found to have a very particular role, as noted in today’s Science Daily:

The discovery identified a defining role for a protein made by the neurexin-1 gene, which is located in brain cells and assists in connecting neurons as part of the brain’s chemical communication system. The neurexin-1 beta protein’s job is to lure another protein, a specific type of nicotinic acetylcholine receptor, to the synapses, where the receptor then has a role in helping neurons communicate signals among themselves and to the rest of the body.

This function is important in autism because previous research has shown that people with autism have a shortage of these nicotinic receptors in their brains. Meanwhile, scientists also know that people who are addicted to nicotine have too many of these receptors in their brains.

“If we were to use drugs that mimic the actions of nicotine at an early time in human brain development, would we begin to help those and other circuits develop properly and thus significantly mitigate the deficits in autism? This is a novel way of thinking about how we might be able to use drugs to approach autism treatment,” said Rene Anand, associate professor of pharmacology in Ohio State University’s College of Medicine and principal investigator of the research.

“It would not be a complete cure, but right now we know very little and have no drugs that tackle the primary causes of autism.”

Cholinergic agents are drugs which play a role in countering nicotine addiction in the brain. It’s speculated that these medications, after “retailor[ing],” might help autistic individuals by increasing the level of neurexin-1 beta protein in their brains. How this might specifically help autistic individuals is only alluded to—-perhaps it might be more helpful to think about how medications can, in some cases and in discrete ways, help some autistic individuals, over and above focusing on the notion of a drug that would “cure autism“?

The research was presented today at the Society for Neuroscience meeting in Washington, D.C.

8 to 11 year olds who studied either piano or a string instrument for a minimum of three years outperformed children with no musical training in auditory discrimination, finger dexterity, verbal ability and non-verbal reasoning. Science Daily reports on a study published in the October 29th PLoS One.

Yes, Charlie has been practicing……….

A gene linked to susceptibility to autism, CNTNAP2, has also been connected to specific language impairment, the most common childhood language disorder, as reported yesterday in Reuters. The study, A Functional Genetic Link between Distinct Developmental Language Disorders, is published in the New England Journal of Medicine.

Specific language impairment involves difficulties with language and, in particular, the repetition of nonsense words. Researchers analyzed CNTNAP2 function in 184 families with common language impairments; children with certain forms of the gene had certain difficulties with language, such as the repetition of nonsense words. It was found that FOXP2, which is mutated in people with a rare speech and language disorder, “directly regulates expression” of CNTNAP2. CNTNAP2 has also been linked to epilepsy, schizophrenia, and Tourette’s Syndrome and may not be specific only for language, but may also play a role in the early development of cognitive function. As noted in the Washington Post

“What skill in language-impaired children is this gene affecting?” said Dr. Karin Stromswold, author of an editorial accompanying the paper in the Nov. 6 issue of the New England Journal of Medicine. “There are a lot of reasons you can be language-impaired, excluding hearing loss and mental retardation.”

Many children with common language impairment also have motor impairment, so the gene could actually be affecting either core language or motor involvement, said Stromswold, a professor of psychology and member of the Rutgers University Center for Cognitive Science, in New Brunswick, N.J.

In their paper, the researchers suggest that “different components of autistic-spectrum disorders (communication deficits, impaired social interaction, and rigid or repetitive behaviors) may be under different genetic influences.”

Another study about autism genetics appears in the Journal of Medical Genetics and (as noted in the November 5th Vancouver Sun) suggests that disruptions in the gene, Contactin 4, stop the gene’s proper functioning and prevent the brain from making proper networks through the development of axons; the mutations are present from birth. 92 patients from 81 families with autism spectrum disorder participated and a whole genome analysis performed, and the results compared them to 560 people without autism. Three of the patients were found to have deletions or duplications of DNA that disrupted Contactin 4. In all the cases, these disruptions were inherited from fathers without a history of autism.