Adults with Severe Autism Disorders: Do Canadians Give a Damn?

Taylor McNee, photo from CTV

In Ontario the family of 18 year old Taylor McNee is fighting for a place for him to live.  The CTV,  to its credit, is covering this story in detail. It isn't the feel good, kumbaya, autism is beautiful fluff that too often passes for autism awareness and disabilities policy. It is the story of a son who is a joy to his family but is also prone to rages resulting from his autism disorder (Fragile X syndrome) and developmental delays.  Hospitalized for several months after one such episode he now must either return home where he is a risk to his younger brother or have nowhere to live.  It is a story familiar to parents of severely autistic adults including here in New Brunswick.  The Taylor McNee story as reported on CTV:

"Taylor McNee is an 18-year-old with autism who been living in a hospital room for five months because there is nowhere else for him to go. And his case is once again highlighting a growing problem: who will take care of autistic children once they become adults? Taylor has a genetic condition called Fragile X syndrome, which has led to both autism and developmental delays. His family says he is a sweet, loving boy who is usually very easygoing. But Taylor is prone to rages and can suddenly lose control.

Five months ago, one of the rage incidents led to injuries that required him to be taken to Toronto Western Hospital. He's long since recovered but has been there ever since. The hospital says Taylor needs to leave, since he no longer needs medical care. But his mother says it's not safe for him to come home and that he risks injuring his younger brother, Ethan, who also has a genetic developmental disorder."

The Taylor McNee story is common elsewhere in Canada including here in New Brunswick where severely autistic adults live in inadequate group homes lacking the professional expertise and adequately trained staff, life in a psychiatric hospital and a variety of ad hoc arrangements.  Efforts to establish an intermediate level facility close to autism expertise in Fredericton have been spurned both by government and by the New Brunswick Association for Community Living which dominates all decision making involving persons with disabilities in New Brunswick.  

As in education so too in adult autism residential care.  The NBACL offers feel good cliches about community and inclusion but resists efforts to establish an intermediate level of care with the expertise and accommodation of the challenges of the severely autistic developmentally delayed population.  The NBACL officials, Order of Canada and Order of New Brunswick ribbon collectors and political friends feel good. The severely challenged autistic population and their families are left to fact the reality of live in hospitals ... if they are lucky.

Here in New Brunswick, and elsewhere in Canada, we must abandon reliance on feel good cliches and fluffy philosophies and start focusing on the realities of life for severely autistic developmentally delayed adults with the aim of providing them with appropriate facilities in which to live out their lives in decent conditions. 

Study Suggests Melatonin Helps Children With Autism Fall Asleep

Science Daily reports on a new study which suggests that melatonin can help children with autism spectrum disorders and children with Fragile X fall asleep:

" the senior author, Beth L. Goodlin-Jones, PhD of the M.I.N.D Institute at the University of California Davis Health System in Sacramento, Calif., treatment with over-the-counter melatonin supplements benefits children of all ages, which helps alleviate some of the additional stress that parents of special-needs children experience"

In addition to over the counter melatonin supplements the study authors recommend behavior therapies and sleep hygiene practices to help children with autism and Fragile X sleep.

Conor has had the occasional evening where he takes a couple of hours getting to sleep but overall we can't complain about his sleeping patterns. Conor does receive behavioral therapy which, in my opinion as his father who has been actively involved with raising him for 13 years, helps keep his stress levels low throughout the day.

The most significant factor for Conor's good sleeping patterns though is one that I think works for every one, child or adult, autistic or not - a consistent bed time with pre-bed routines. Conor looks forward to Eight Zero Zero (8:00) each evening. He literally runs up the stairs to the upstairs washroom where Dad loads the toothpaste for brushing and we go through a routine involving things like effusive praise for how well he has brushed his teeth and washed up. Last night Conor ran up the stairs and, when finished in the washroom, on into his room where he jumped into bed.

Exercise also helps. When the good weather hits in the spring the extra daylight, which might make for more difficulty getting to sleep, is off set by the greater amount of time outdoors walking and getting fresh air with Dad. It certainly helps Conor's Dad :-)

In describing the good fortune we have had with Conor's sleep habits I do not mean to diminish the difficulties faced by other autistic children and their families who are not so fortunate. I just want to suggest regular bed time and routine, together with outdoor exericse and fresh air though, if possible, might be of assistance if currently lacking.

autism

Is Fragile X the Treatable Type of Autism?

In The Fragile X Factor TIME in partnership with CNN examines Fragile X in the family of Cari and Andrew Wheeler of Madera Ranchos, California including son Max, 7 , who is mildly autistic and mildly retarded. In addition to Max his mother is experiencing premature menopause and his grandfather is suffering from neurological decline. The conditions of all three are impacted by the Fragile X syndrome and the defective X chromosome gene they carry. All three are featured and their common Fragile X syndrome described.

The article also focuses on fenobam, a potential drug treatment for FXS and other types of autism. Pediatrician Randi Hagerman, medical director of the MIND Institute, and a team at Chicago's Rush University Medical Center have begun trials with fenobam. Neuroscientist Mark Bear of MIT is expected to begin trials with two other drugs in 2008. Hagerman is particularly optimistic:

"We're looking at a medication to reverse the retardation and I think we can achieve it."

Hagerman's husband Paul also studies Fragile X and urges parents with an autistic child to consider testing for Fragile X. In his opinion autism caused by Fragile X will be known as the "treatable type".

If the drugs fulfil their potential and are indeed found to be an effective treatment for Fragile X related autism some neurodiversity oriented parents may have to reconsider their "Autism is Beautiful" hostility toward autism cures. It is one thing to oppose a hypothetical treatment or cure. It would be something altogether different for parents to refuse actual proven treatments that could cure their autistic children and give them a chance at a richer life.

autism

FMR4 - New Gene Link to Fragile X and Autism

The Autism Knowledge Revolution is continuing at such an explosive pace that it barely makes the news when an important new research development provides new insights into the biological structures and process of autism disorder. More of the genes associated with autism and related conditions, Fragile X, in the report that follows, are becoming known. At times it seems on a daily basis.

PLoS ONE has published a report - A Novel RNA Transcript with Antiapoptotic Function Is Silenced in Fragile X Syndrome of a study by researchers Ahmad M. Khalil, Mohammad Ali Faghihi, Farzaneh Modarresi, Shaun P. Brothers, Claes Wahlestedt of the Molecular and Integrative Neurosciences Department (MIND), The Scripps Research Institute, Jupiter, Florida which identifies a new gene FMR4 involved with Fragile X syndrome and potentially many cases of autism.

In New Gene Linked To Fragile X Syndrome -- Suggests Potential Targets For Autism And Other Neurological Disorders Science Daily translates from science into layperson the article published in PLoS ONE :

ScienceDaily (Jan. 30, 2008) — Scientists at The Scripps Research Institute have discovered a new gene involved in fragile X syndrome, a condition that often shares many symptoms of autism. The discovery may lead to new tests or treatments for several neurological disorders.

...

Fragile X syndrome affects thousands of patients worldwide with severe learning disabilities, often accompanied by anxiety disorders, obsessive-compulsive behavior, and attention deficit hyperactivity disorder. There are currently no therapeutic treatments available for fragile X syndrome. Approximately one-third of all children diagnosed with fragile X syndrome also have some degree of autism, according to The National Fragile X Foundation, including such behaviors as social anxiety, poor eye contact, and hand biting.

More than 16 years ago, scientists linked fragile X syndrome to inactivation of FMR1 gene expression, leading to the lack of a protein known as the fragile X mental retardation protein, now considered to be critical for neuronal function. Until the current study, no other functional gene other than FMR1 had been shown to be inactivated in the disorder.

However, Wahlestedt knew the FMR1 gene locus-a specific point on a chromosome-was not well mapped. Wahlestedt and his colleagues hypothesized that unknown regulatory genes might be transcribed from the region.

The new study shows at least one other functional gene-FMR4-from this genetic region is linked to fragile X syndrome, although the gene's exact role in the intact brain remains uncharacterized.......

For anyone wondering, as I was, what the term anti-apoptic means, it relates to apoptosis for which I found some definitions on-line:

MedicineNet.com:

Apoptosis:

A form of cell death in which a programmed sequence of events leads to the elimination of cells without releasing harmful substances into the surrounding area. Apoptosis plays a crucial role in developing and maintaining health by eliminating old cells, unnecessary cells, and unhealthy cells. The human body replaces perhaps a million cells a second. Too little or too much apoptosis plays a role in a great many diseases. When programmed cell death does not work right, cells that should be eliminated may hang around and become immortal. For example, in cancer and leukemia. When apoptosis works overly well, it kills too many cells and inflicts grave tissue damage. This is the case in strokes and neurodegenerative disorders such as Alzheimer, Huntington and Parkinson diseases. Apoptosis is also called programmed cell death or cell suicide. Strictly speaking, the term apoptosis refers only to the structural changes cells go through, and programmed cell death refers to the complete underlying process, but the terms are often used interchangeably.

Merriam-Webster OnLine

apoptosis

Main Entry:

ap·o·pto·sis

Pronunciation:

\ˌa-pəp-ˈtō-səs, -pə-ˈtō-\

Function:

noun

Inflected Form(s):

plural ap·o·pto·ses \-ˌsēz\

Etymology:

New Latin, from Greek apoptōsis a falling off, from apopiptein to fall off, from apo- + piptein to fall — more at feather

Date:

1972

: a genetically directed process of cell self-destruction that is marked by the fragmentation of nuclear DNA, is activated either by the presence of a stimulus or removal of a suppressing agent or stimulus, and is a normal physiological process eliminating DNA-damaged, superfluous, or unwanted cells —called also programmed cell death

— ap·o·pto·tic \-ˈtä-tik\ adjective

autism

mGluR5 Spells Hope For Autism

Mark Bear, director of the Picower Institute and Picower Professor of Neuroscience (right), and Gül Dölen, a graduate student at Brown University,
report the correction of fragile X syndrome in mice. Photo / Donna Coveney

MIT News

Parents of autistic children have been preyed upon by purveyors of unproven treatments for their children's autism. But today there is hope, real hope, for autistic persons and the family members who care about their autistic children. Hope for an effective medical autism treatment is no longer something peddled by charlatans. We can now see it. We can even spell it. Hope for autism is spelled mGluR5.

mGluR5 is the shorthand for a metabotropic glutamate receptor. It was featured in the study led by Mark F. Bear, director of the Picower Institute and Picower Professor of Neuroscience at MIT published in the December 20 2007 edition of Neuron. The study by Professor's Bear's team supports the theory that many of FXS's (Fragile X's) psychiatric and neurological symptoms--learning disabilities, autistic behavior, childhood epilepsy--stem from too much activation of one of the brain's chief network managers, the metabotropic glutamate receptor mGluR5. As reported in MIT News:

Bear and colleagues study how genes and environment interact to refine connections in the brain. Synapses are the brain's connectors and their modifications are the basis for all learning and memory. There's a growing consensus among researchers that developmental brain disorders such as FXS, autism and schizophrenia should be considered "synapsopathies"--diseases of synaptic development and plasticity (the ability to change in response to experience).

Dendritic spines--little nubs on neurons' branchlike projections--receive many of the synaptic inputs from other neurons. Abnormal spines have long been associated with various forms of human mental retardation. In FXS, spines are more numerous, longer and more spindly than they should be. Thin spines tend to form weak connections.

The research team found that a 50 percent reduction in mGluR5 fixed multiple defects in the fragile X mice. In addition to correcting dendritic spines, reduced mGluR5 improved altered brain development and memory, restored normal body growth and reduced seizures--many of the symptoms experienced by humans with FXS.

The researchers used genetic engineering to reduce mGluR5, but a drug could accomplish the same thing. Although not yet approved by the FDA, mGluR5 blockers are entering into human clinical trials. "Insights gained by this study suggest novel therapeutic approaches, not only for fragile X but also for autism and mental retardation of unknown origin," Bear said.

As Christmas approaches families with autistic children may already have received our most wondrous gift of all - the knowledge necessary to provide an effective medical treatment for autism.

autism

Today There Is Hope For Targeted Autism Treatments

Today's exciting news of Fragile X and autism symptom reversal in mice holds out hope for specific targeted treatment for entire autism spectrum according to medical experts interviewed by TIME in A Fix for One Type of Autism :

What was especially remarkable was the number of ways the intervention reversed Fragile X symptoms. The specially bred mice had fewer seizures, more normal brain structure, a more typical rate of body growth and they performed better on a learning task than mice with uncorrected Fragile X. The experiment suggests that treating Fragile X with a drug that inhibits mGR5 receptors could have similarly healing effects.

"This gives the whole field of autism a lot of hope for targeted treatments that can be beneficial," says Dr. Randi Hagerman, medical director of the MIND Institute and director of the Fragile X Research and Treatment Center at the University of California, Davis. "It's likely that the mGR5 pathway may be involved in other kinds of autism," she says. That means that a drug that works on this pathway could have broad application in treating autism.

TIME also reports that drugs that block the mGR5 receptor already exist and researchers are wasting no time setting up human clinical trials. Most parents whose children have been diagnosed for several years are disciplined by expert advice and ... disappointment and few are unlikely to get too wound up over today's news but it seems like one of the most promising breakthroughs to date for families seeking to treat and cure their autistic children.

autism

Autism Research: Scientists Reverse Symptoms of Autism in Mice

This report appears to hold great promise that someday some of the more severe cognitive deficits present in some instances of autism may be reversible. This news will undoubtedly be greeted with skepticism and even cynicism. Yes, the studies must be subjected to the usual rigours of scientific study and mice are not people etc. But this study is one more example of the explosion in research taking place now into the nature, causes and treatments for autism. Research such as this holds out hope for the future.



Scientists Reverse Symptoms of Autism in Mice

06.25.07, 12:00 AM ET

MONDAY, June 25 (HealthDay News) -- Scientists may have uncovered a way to reverse symptoms of mental retardation and autism in mice.

Researchers from the Picower Institute for Learning and Memory at Massachusetts Institute of Technology (MIT) genetically manipulated the mice to model Fragile X Syndrome (FXS), which is the leading inherited cause of mental retardation and the most common genetic cause of autism.

FXS is tied to a mutated X chromosome gene called the fragile X mental retardation 1 ( FMR1) gene. When this gene is mutated, it can cause mild learning disabilities to severe autism.

"Our study suggests that inhibiting a certain enzyme in the brain could be an effective therapy for countering the debilitating symptoms of FXS in children, and possibly in autistic kids as well," study co-author Mansuo L. Hayashi, a former Picower Institute postdoctoral fellow currently at Merck Research Laboratories in Boston, said in a prepared statement.

The enzyme that was inhibited in this study is called p21-activated kinase, or PAK, and it affects the number, size and shape of connections between neurons and the brain.

When PAK's activity was halted, the brain abnormalities in the FXS mice were reversed.

"Strikingly, PAK inhibition also restored electrical communication between neurons in the brains of the FXS mice, correcting their behavioral abnormalities in the process," co-author Susumu Tonegawa, 1987 Nobel laureate and Picower Professor of Biology and Neuroscience, said in a prepared statement.

Tonegawa said that there are known chemical compounds that can inhibit the activity of PAK, which is something that may be useful in developing drugs to treat FXS.

The FXS mice showed abnormalities similar to those in FXS patients, including hyperactivity, purposelessness, repetitive movements, attention deficits, and difficulty with learning and memory.

When the activity of PAK was inhibited, these abnormalities were partially or fully ameliorated.

"Notably, due to an elegant genetic manipulation of method employed by the Picower Institute researchers, PAK inhibition in the FXS mice did not take place until a few weeks after appearance of disease symptoms. This implies that future treatment may still be effective even after symptoms are already pronounced," Tonegawa said.

The findings were reported in the June 25-29 online early edition of the Proceedings of the National Academy of Sciences.

http://www.forbes.com/forbeslife/health/feeds/hscout/2007/06/25/hscout605865.html