Taking care of autistic children is hard enough, but caring for them when they grow up can test a parent’s resolve like nothing else.

When a Sunnyvale woman fatally shot her 22-year-old autistic son and then herself this week, empathetic parents of autistic children, young or old, spilled out their frustration, anguish and opinions on the Internet and in interviews with reporters.

Trudy Gable, a director at Parents Helping Parents in San Jose, knows the agony firsthand — her 27-year-old daughter is autistic. when she “aged out” of a state system for the autistic that caters to young patients, Gable said she felt a pit in her stomach each time she checked out an adult group home.

“There would be old people there, or their disabilities were different,” Gable said. “I just kept thinking, ‘My child doesn’t belong here.’ And then you’d go through this grief process all over again.”

Autism is a developmental disorder that has a wide range of symptoms, from mild to severe problems with behavior, communication and socialization.

School districts are required to provide education and other services to autistic children until they reach age 22. Parents and experts say after that it becomes much more challenging to find them adequate care, which can be expensive and increasingly scarce due to budget cuts.

Elizabeth Hodgins was somewhere in that process when she picked up a handgun Tuesday and fatally shot her 22-year-old son, George, in his bedroom. Neighbors told this newspaper she was overwhelmed and discouraged by the difficulty of finding a program for him. how hard she tried and why she couldn’t find another program remain unclear.

One of the Hodgins’ neighbors said George Hodgins was low functioning and high maintenance, unable to speak and easily agitated.

On Thursday, police disclosed that Elizabeth Hodgins used her own gun in the murder-suicide. Lester Hodgins, Elizabeth’s husband and George’s father, has not spoken publicly about the tragedy.

While they don’t condone or excuse what Elizabeth Hodgins did, parents interviewed by this newspaper said they understood what would drive a parent of an autistic child to commit such a senseless act.

Parents and teachers of autistic children also said Hodgins’ plight may have been worsened by the deep funding cuts to autism care in California.

Joanna Jaeger, of Milpitas, has an autistic 19-year-old son. she served as a “stakeholder” on a state committee asked to cut $200 million from the state Department of Developmental Services, which runs autism programs.

“There are cuts, cuts and more cuts,” said Jaeger, who also serves on the board of Parents Helping Parents, a nonprofit support group. she said many parents don’t have long-term plans for their autistic children beyond trying to outlive them. only a few families have enough help and money to afford adult services.

“A lot of people, they get pretty desperate,” she said. “We don’t know what caused this mother to do this. But every mother I know who has a child with special needs has a moment just like that. I am heartbroken.”

Brian Darby, who teaches adults with autism and other disabilities at the Independence Network in Santa Clara, gave the state high marks for treating autistic children but less credit for adult care. He said the school, which enrolls about 64 disabled adults, gets $60 per student per day from the state, a reduction from previous years.

“The notion is, OK, they’re ready for work, ready to live on their own, because of all the money being spent on them when they’re kids,” Darby said. But when they are not, he added, “They are isolated,” and their parents quickly become overwhelmed.

According to a 2002 survey by Developmental Services, there were about 20,400 autistic children and adults in state-funded programs, 70 percent of them younger than 15.

Parents and autism experts are worried the problem will only grow worse, as hundreds of thousands of autistic children nationwide become adults over the next decade as states cut more social and medical services.

Anna Wang, of Fremont, a co-founder of the Friends of Children with Special Needs, said 165 autistic people attend the center’s adult day care program, and she has a waiting list of 55. the center opened with 10 families in 1996, she said, precisely because there was nothing around to help her autistic son, Lawrence.

“This is why we parents are always going to Sacramento,” Wang said. “We go to fight for funding.”

Thirty autistic adults now live in apartments on the center’s Peralta Boulevard property and three more in San Jose.

Lawrence is now 22, and Wang was able to figure out a way to have him live at home, work three part-time jobs and play saxophone — all things that make her luckier than parents whose children can’t function as well as her son can.

Elizabeth Hodgins had been wired into the autistic community. her son attended the Morgan Autism Center in San Jose, which he left in December. Executive Director Jennifer Sullivan said Hodgins wanted to find something more appropriate and community-oriented for her son.

It’s unclear what help she may have asked for or received at the San Andreas Regional Center, the state’s go-to operation for local families with special-needs children, including autistic adult children. Managers of the center did not return phone calls Thursday.

Gable, of Parents Helping Parents, said Elizabeth Hodgins was first a volunteer and then a short-time staffer with the group. she even wrote a letter to the Mercury News in 1995 on how the support group had become her “angels,” helping her with the “fear, grief, pain, anger, guilt and anxiety over my son’s condition — and my ability to cope with it.” Hodgins left the group as her son grew older.

Using all her knowledge and resources, Gable figured out how to care for her autistic adult daughter by pooling state and federal money together to pay for a care worker several days a week. But she said not every parent has the energy or know-how.

“She may not have found the right program,” Gable said. “I wish we could have helped.”

Jason Shapiro, 46, who lives in El Dorado County, said he was denied the services he needed for his severely autistic son, Richard Wilson, 23. Shapiro filed two lawsuits demanding financial reimbursement for a care worker and a group home for “supported living” services.

Shapiro said he feels like he is at wits’ end, just like Hodgins must have felt. He and his wife divorced, and he is now unemployed from the financial industry and takes care of his son full time.

“This poor lady,” Shapiro said. “I was denied all these services that my tax dollars go to support. And then you just become a prisoner. you can’t ever leave the person in your care.”

Staff writer Sandy Kleffman contributed to this report. Contact Lisa Fernandez at 408-920-5002. Follow her at Twitter.com/ljfernandez.

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CHICAGO, Sept. 12 (UPI) — An Illinois woman was charged in the death of her 14-year-old, mentally disabled son who lived in a house overrun with more than 200 animals, officials said.

Lydia Price, 49, of Berwyn was charged with criminal abuse and neglect of a disabled child resulting in death, endangerment of a child, animal hoarding and cruel treatment, the Chicago Tribune reported.

The boy was found lying in the back yard of the home and was pronounced dead at MacNeal Hospital in Berwyn. An autopsy showed he died of natural causes related to bronchopneumonia, the Cook County medical examiner’s office said.

Price was released Monday after posting 10 percent of her $100,000 bail.

She also was charged with criminal abuse and neglect of a 12-year-old daughter with severe autism.

Police said the bungalow was covered with feces and infested with spiders and cockroaches and had no working toilets or a refrigerator.

Authorities said the girl and two other siblings who lived at the home are in the custody of the Department of Children of Family Services after being treated for flu-like symptoms. a fourth, 18, was being treated at a hospital, an agency spokesman said.

Prosecutor Joseph Hodal said the children had never been to school and had not received any medical treatment.

I think if you are experienced in knowing what to look for, you can spot it pretty early on like some people can tell before the child is a year old. It is most commonly spotted around 18 months to 2 years when they should be starting to talk. in some cases, when the symptoms are fairly mild like in Asperger's, it can take longer because speech may not be delayed and the child may seem in most ways to be developing typically.

They typically say by the age of three when they would really be interacting with others with purpose. but if your child has a speech delay at about 1 or 2 autism might be the reason.

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you can get much information in this website,kindly stay a minute in website and check anyone link at a time,and you can aslo get your question answer in Google Search in this website, which has already helped me very much.

Depends on what kind….
Sometimes as early as toddlers because they don't play correctly. some kids are unable to social interact. Sometimes in Kindergarten when they start school and they are not learning at the correct speed. my nephew was 12 months and they new something was wrong with him but they were sure if he was retarded or it was autism.
But Asperger's Syndrome sometimes isn't detected until high school!

They dont start to talk.
They dont interct, (smile, show emotion) (excluding crying, thats totally normal)
Anything that is out of the ordinary, go see your docter, then if your docter iis concerned he/she can provide you with a perscription with an autistic specialist.

I would say even as early as 13 months, my son was diagnosed at the age of 4, but there were signs from that age (13 MTHS) that there could be a problem, his speech didn't develop at all, very bad tantrums, lining things up all day and not really playing or doing anything else exept that, also doing things repeatidly, oh and his speech didn't develop however he would say 'washing machine' all the time in answer to every question.

It really depends on the type, some people have regressive autism, which means that they develop typically until the age of 15 to 24 months and then lose skills. some people have had unusual characteristics since birth, and the University of California has developed a survey for detecting autism as early as four months old.

Aspergers is a type of autism, that often is not discovered until grade school, because the primary distinction is that there are NOT early delays.

But with typical autism, the average age of diagnosis is around three or four. often parents detect troubling characteristics before the age of two, however, and it takes some time to go through the medical channels for a proper diagnosis.

HTH.

Usually the symptoms can be spotted out from a doctor from a very young age. unfortunately I do not know the exact age.

I have a 25 month old with a speech delay, he is in therapy. he is very shy toward adults but loves kids his age. he doesn't have sensory issues or repetative behavior. what else should I be looking for?

How about eye contact? does he fixate on anything? does he have "melt downs" (fits that he can't seem to control?) the thing about autism is that all the kids are really different, I would take him to a clinical psychologist for an evaluation to find out so you can get him more help. at 25 months there is likely a reason he is not speaking (autism, apraxia, other disorders) and it is important you know what you are dealing with. no matter what the outcome it will make you feel empowered because you'll know what action to take.

If he is lacking in social skills (prefers to be alone, doesn't communicate well or at all), talks about things obsessively (even during a conversation), no eye contact, fails to respond to his name, appears not to hear you at times, resists cuddling/holding, unaware of the feelings of others (unable to feel empathy), speaks with abnormal tone/rhythm (use sing-song voice or robotic speech), repeats words/phrases verbatim but doesn't understand how to use them, performs repetitive movements (rocking, spinning, clapping), develops specific rituals/routines (and is disturbed by changes to these routines.

what are the symptoms of tetanus question by ? guitargirl ?: what are symptoms of tetanus? is getting it through a cut the only way to get tetanus?

what are the symptoms of tetanus best answer:

Answer by MelHi guitargirl,

The other name for tetanus is lockjaw so that really tells you the main symptom.it attacks the skeletal muscles.

It can be through rusty nails going into you, either your hands or by standing on one, and through some types of soil which is why gardeners usually keep up to date with their shots.Also dust and animal excreta.

David Kirby: High Rates of Autism Found in Federal Vaccine Injury Program: Study Says more answers Neededwhat are the symptoms of tetanusMembers of the Elizabeth Birt Center for Autism Law and Advocacy (EBCALA), along with parents and children who received federal vaccine injury compensation, are having a press conference “to unveil an investigation linking vaccine injury to autism.”

Tetanus Signs and Symptoms

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One of every 110 children is diagnosed with autism. If you haven’t yet met a person with this disorder, you’ve probably seen it depicted in the media.

Typically characters like Raymond Babbitt, from the hit film “Rain Man,” or Max, a child on the popular NBC show “Parenthood,” are portrayed as exceptionally skilled or high functioning individuals.

Other perceptions of the disorder may bring to mind children who are “locked in their own worlds,” and can’t communicate at all.

The truth is, people with autism can have very different symptoms. Health care providers think of autism as a “spectrum” disorder, a group of disorders with similar features. One person may have mild symptoms, while another may have serious symptoms.

Some people may have difficulty speaking, while others may have extensive vocabularies and be able to discuss topics that interest them at great length.

What, exactly, is this disorder that seems to effect individuals so differently?

Autism is a general term used to describe a group of complex developmental brain disorders known as Pervasive Developmental Disorders (PDD).

“Basically, it is a brain disorder that shows itself in children around the age of 15-18 months, although some show symptoms earlier or later,” said Masoud Ahdieh, M.D. “Autistic children don’t progress at the same rate as others in their age group. Parents may notice things like social interactions, play and speech are not developing, and often autistic children seem withdrawn.”

Within this general group, there can be different levels of severity, and combinations of symptoms. The disorder affects the way people perceive the world, and makes communication and social interaction difficult.

People with autism often have some physical difficulties as well. Epilepsy, and seizure disorders, are not uncommon, gastrointestinal problems, like constipation, diarrhea or stomach pain, are found to be another recurring complaint, also inability to sleep and very high or very low sensory perceptions.

Some with the disorder experience less sight, smell or taste, while others have heightened awareness of the senses and can be easily overwhelmed by things that make them uncomfortable.

Each individual must be treated as that, there is no blanket description. The underlying trait autistics seem to have in common is difficulty interacting with others and delayed language development.

The symptoms of autism last throughout a person’s lifetime. a mildly affected person may seem eccentric, or quirky, while a severely affected person may be unable to speak or care for themselves.

While the disorder is not curable, early intervention is crucial to an individual’s ability to function later in life.

“Children who are diagnosed early, and receive the proper treatment, have a better chance of being able to cope more and have improved interactions with others when they are older,” said Ahdieh.

Today, more children are diagnosed with autism than ever before – more than pediatric AIDS, diabetes and cancer, combined. yet only a fraction of health care spending is dedicated to this disease.

It is generally accepted that the increased number of diagnosed cases can be attributed to better diagnostic tools and information.

No one knows for sure what causes autism, but evidence points toward it possibly being a genetic disorder. The idea that autism was caused by the multiple-dose vaccinations given to young children has been debunked, and called an “elaborate fraud.”

“Autism is not an uncommon disease,” said Ahdieh. “it is something that needs more attention than what it is receiving now, and parents of autistic children need to have a support network to which to turn.”

“some of the challenges I face, as a parent of a child with autism, are after school and summer assistance,” said Emily Tucker. “many children on the Autism Spectrum have a lot of regression during the summer months, when their routines are disrupted. it is so important to keep a regular routine for these kids. Most of our children receive services like speech and occupational therapy during the day, while in school, but cannot afford the assistance through summer months.”

The local Autism of N.C. Richmond County Chapter meets the second Saturday of January, March, may, July, September and November at 10 a.m. in FirstHealth Richmond Memorial Hospital.

Staff writer Kelli Easterling can be reached at (910) 997-3111 ext. 18, or by email at

Kevin Hand

Mitochondria are tiny. a single human cell can contain hundreds to thousands of these potato-shaped organelles, depending on the tissue type. they power the biochemical reactions in our cells through the production of adenosine triphosphate (ATP).

These oft-overlooked furnaces, not studied in earnest until the 1970s, are now the subject of intense scrutiny for their potentially central role in common, complex diseases. they may be, scientists say, pivotal to the etiology of diseases such as cancer and Alzheimer’s, epidemics against which researchers and companies have spent billions of dollars but made arguably little progress.

But not everyone agrees with the mitochondrial hypothesis. Complex diseases are simply that, some researchers argue—complex. While mitochondria are essential to human physiology, there has not been sufficient evidence to prove that mitochondrial dysfunction plays a causative role in complex diseases. When it is implicated, debate ensues over whether errors in energy production contribute to disease pathology or are simply a consequence of it. “The question remains, as it should, how often [are mitochondria] a major player?” asks Marvin Natowicz, a clinician specializing in autism and mitochondrial disease at the Cleveland Clinic in Ohio.

It doesn’t help that studies of human mitochondrial function are invasive, costly, and lengthy. But over the last five years, a growing number of papers by researchers around the world have implicated dysfunctional mitochondria in many elusive diseases, including Parkinson’s, autism, and aging. and leading the charge is an unlikely champion, a respected and renowned member of the National Academy of Sciences who is simultaneously a self-proclaimed radical and zealot: a man about whom colleagues hesitate to comment, a maverick known for mounting a soapbox to hold forth on the “vital force,” Eastern medicine, and E=mc2.

Douglas Wallace analyzes frozen patient cell lines to identify molecular defects affecting mitochondrial function that lead to disease. Robert Neroni

On a brisk February morning, Douglas Wallace walks through the halls of the Center for Mitochondrial and Epigenomic Medicine, a new research center at the Children’s Hospital of Philadelphia, spouting philosophy. “Every one of the diseases we can’t solve is absolutely logical if we put energy at the center,” he says. “I believed that in 1970 and I believe it now.”

A short, cheery man with gold-rimmed glasses, a yellow and green paisley tie and oversize pants held up by blue suspenders, Wallace is a founder of the field of human mitochondrial genetics. as a researcher he has published over 230 papers and is consulted by clinicians about some of the world’s trickiest diseases. But he is also a man on a mission to convince the scientific establishment that they’ve got it all wrong.

Medicine fails to solve many of today’s common, complex diseases, Wallace asserts, because the fundamental paradigm is wrong: the medical establishment has spent far too long focusing on anatomy and ignoring energy—specifically, mitochondria.

It has been his tune for more than 30 years, though it’s often fallen on deaf ears in the scientific community. But today, the idea that energy deficiency plays a major role in human disease appears to be gaining momentum, as more and more papers link mitochondrial dysfunction to disease. The shift has prompted Children’s Hospital to put their money behind his research, and has caused many in the community to wonder: is Doug Wallace crazy? or is he right?

a Pandora’s box of mutations

Mitochondria generate energy in the form of ATP by combining nutrients and oxygen in a chemical reaction called oxidative phosphorylation (OXPHOS). The mitochondrion is hypothesized to have originated as a bacterium engulfed by another cell some two billion years ago. Mitochondrial DNA (mtDNA) is circular, with 37 genes, 13 of which encode subunits of enzymes involved in OXPHOS and so are analogous to the wiring diagram for a power plant. (See “Mitochondria at Work” below.) more than a thousand additional genes in the nucleus of the cell (nDNA) are involved in the maintenance, growth, and replication of mitochondria, and around 80 of those nuclear genes code for proteins involved directly in OXPHOS. While nDNA is inherited from both the mother and the father, in 1980 Wallace demonstrated that human mtDNA is inherited only from the mother.

In 1988, Wallace took our understanding of mtDNA a step further: He discovered, for the first time, that mutations in mtDNA cause disease. He identified a point mutation in a protein subunit that results in Leber’s hereditary optic neuropathy, a form of midlife blindness.1 Shortly after, Wallace identified an mtDNA mutation associated with a form of progressive epilepsy accompanied by muscle weakness.2 it was his first glimpse into a Pandora’s box of diseases caused by mutations in that small, circular DNA. Today more than 400 point mutations, as well as innumerable mtDNA rearrangements, are linked to heart and muscle disease, epilepsy, deafness, blindness, anemia, and more.3 In addition, mutations in nDNA genes can cause mitochondrial disease, as can combinations of nDNA and mtDNA mutations.4

“At the moment, there are about 120 different [mitochondrial] genetic disorders, and there are probably as many again to be discovered,” says David Thorburn, head of mitochondrial research at the Murdoch Childrens Research Institute in Victoria, Australia. a primary mitochondrial disease—one caused by a mutation in mtDNA—is not easy to diagnose and often involves many organ systems, including heart, brain, muscle, and gastrointestinal tract. “We used to say, if three or more systems are involved, think mitochondria,” says Marni Falk, a pediatrician at Children’s Hospital of Philadelphia and a leading mitochondrial researcher. In addition to the production of ATP, mitochondria regulate calcium control in the cell and guide cell death. “They’re like the conductor of the orchestra,” says Falk. “When they’re not working, all is disrupted.”

Sadly, there is a dearth of therapies for well over 95 percent of primary mitochondrial disease cases. “The treatments we hoped would prove effective have been really disappointing,” says Marc Yudkoff, chief of child development and rehabilitation medicine at Children’s Hospital. “The area of mitochondrial disease has become our most pressing concern.” Children’s Hospital is a hub of research into primary mitochondrial diseases and treatments for their victims, with hundreds of cases referred each year—and “the pace is increasing,” says Falk. In 2007, she established a mitochondrial research group at the hospital, bringing together over 175 specialists in numerous fields—from endocrinology to anesthesiology to hematology to surgery—to spark collaborations to identify new biomarkers and treatments for such diseases.

But beyond the need for therapies and research into primary mitochondrial diseases, Wallace believes there is an even larger, unrecognized chasm in the medical community. Over the last fifty years, despite billions of dollars in funding, the medical community has failed to discover causes or treatments for many common, complex diseases: heart disease, Alzheimer’s, autism, and more. Wallace attributes that continuing failure to the fact that clinicians and researchers base medical training and treatments on anatomy. If someone has a headache, for example, doctors look to the head. If the patient has chest pain, a clinician examines the heart or lungs. Doctors are taught organ-specific medicine in school, and the NIH still organizes its research centers based largely on organ systems: the National Eye Institute, the National Heart, Blood, and Lung Institute, and the National Institute of Diabetes and Digestive and Kidney Diseases, for example. But life is structure plus energy, argues Wallace, and we’ve been missing the second half of that equation.

It is “self-evident” in some ways, says Yudkoff. Disease is caused by a loss of organization—by entropy—which is essentially a loss of energy. “on a basic physical and chemical level, it’s not arguable,” he says. Thorburn adds, “The whole area is fascinating and plausible. [Wallace] has done some pioneering work. He sells it very hard, but people are very much interested in the ideas and following up on them.”

To Wallace, looking at complex diseases through the lens of mitochondria makes everything clearer. “I’m not saying anything done before isn’t good. It’s just not complete,” says Wallace. especially, he believes, when trying to understand the elusive link between disease, genetics, and the environment.

Genome-wide association studies (GWAS), a popular tool to find genetic variations associated with a particular disease, have for the most part had limited success. Their failures are often blamed on confounding environmental factors. Mitochondria, notes Wallace, are that missing factor: they act as a direct link between our genes and the environment, taking in calories and oxygen (products of the environment), and producing ATP and acetyl coenzyme a, two molecules involved in the regulation of most biochemical reactions, including gene expression.5 In addition, during OXPHOS, mitochondria generate reactive oxygen species (ROS), the smoke from the furnace. At low levels, the ROS provide a critical signaling system from the mitochondrion to the cytosol and nucleus. However, at high levels, these free radicals cause significant damage to the cell and organelles, especially to the mitochondria themselves. consequently, mtDNA has a much higher mutation rate than nuclear DNA. thus, the most common genetic changes caused by the environment are mutations in mtDNA, says Wallace. these inheritable changes, plus mitochondrial regulation of nuclear DNA gene expression by ATP and acetyl coenzyme a, are the major factors contributing to predisposition to the common diseases, argues Wallace.6 Yet GWAS only analyze nDNA, not mtDNA. “GWAS are wonderful,” says Wallace. “The problem is they don’t include energetics.”

Today, Wallace finally has the backing of a major research hospital to explore these ideas and more. In 2009, while visiting Children’s Hospital, Wallace spoke with Yudkoff about his desire to start a center focused on the role of mitochondria in common, complex diseases. “it was a bit like Einstein asking if he’s welcome in a physics department,” says Yudkoff. “There’s arguably no one alive with more impeccable credentials in the field.”

The Center for Mitochondrial and Epigenomic Medicine (CMEM) opened July 2010, with 19 of Wallace’s staff from his previous post at the University of California, Irvine, joining him. In addition to staff, Wallace brought his mice. Over decades, he has created numerous mouse models in an effort to prove a direct cause-and-effect relationship between mitochondrial defects and common diseases. In 1997, for example, he created a mouse deficient in Ant1, a nuclear-encoded protein involved in ATP synthesis, loss of which produces debilitating heart and muscle disease.7 He has also created mice harboring mtDNAs with a single base change in the mtDNA COI gene. these animals develop heart and muscle disease as well as other symptoms, demonstrating that a single mtDNA mutation is sufficient to cause degenerative disease. Today, Wallace has over 3,000 mice with different mitochondrial defects serving as models for diseases including diabetes, hypertension, blindness, and neurological problems.

The Center, now stocked with mice and staff, could not have opened at a more opportune time. Today there is a “renaissance” of researchers considering the role of energy and mitochondria in common disease, says Falk. “In the last decade, there’s been an explosion of research,” she says.

Still, while studies of nuclear DNA implicate new genes in complex diseases every day, mtDNA studies are far fewer and more difficult to perform, typically requiring an invasive muscle biopsy and an analysis of the percentage of mutated mitochondria within a cell or population of cells. to catch the attention of the medical community, every last scrap of research will be needed. Extraordinary claims, as they say, require extraordinary evidence.

Altered metabolism in complex diseases

In 1982, an illicit chemist in Northern California synthesized and sold a bad batch of a narcotic called “China White.” four drug addicts injected the contaminated dope and subsequently developed tremors, rigidity, and loss of balance—it appeared as if they had Parkinson’s disease. The drug, researchers later discovered, was actually MPTP, a neurotoxin that inhibits the first step of OXPHOS. “ever since then, the role of mitochondria in Parkinson’s has been hotly debated,” says Doug Turnbull, a member of the mitochondrial research group at Newcastle University in the United Kingdom.

Today, more than 800 papers have analyzed the role of mitochondria in Parkinson’s disease, with intriguing conclusions. The most frequently known genetic cause of Parkinson’s to date is a mutation in LRRK2, a nuclear gene encoding an enzyme that associates with the mitochondrial outer membrane. (See “The Genes of Parkinson’s Disease,” The Scientist, February 2011.) Studies have shown the mutation is connected to impaired mitochondrial function.8 In 2006, Turnbull and colleagues at Newcastle found significant mitochondrial DNA deletions in the substantia nigra, a brain region damaged in patients with Parkinson’s disease.9

“Neurobiologists are too shy to accept that it is a mitochondrial disease, but it is a mitochondrial disease,” says Prasanth Potluri, a self-proclaimed “mitochondriac” and research scientist at CMEM. Yet, for others, the idea is not so cut-and-dried. It’s “quite controversial,” said Thomas Gasser, director of the department of neurodegenerative diseases at the Hertie-Institute for Clinical Brain Research at the University of Tübingen, Germany. There are rare, recessively inherited forms of Parkinson’s in which defective mitochondria certainly play a role, says Gasser, but for the more common, sporadic cases of Parkinson’s, “the primary defect lies somewhere else.”

There is also budding evidence for the role of mitochondrial dysfunction in other common neurodegenerative diseases. recent studies suggest that amyloid-beta, the chief component of the characteristic plaque of Alzheimer’s disease, progressively accumulates within mitochondria, acting as a direct toxin. In addition, defects in OXPHOS, including mutations in mtDNA, have been frequently associated with the disease.10,11 and a recent study from Newcastle University found that mtDNA deletions may also be an important contributor to multiple sclerosis.12

In 2005, a population-based study at a school in Portugal demonstrated that seven percent of autistic children studied had disturbances in mitochondrial energy metabolism.13 “it raised the question that disturbances of mitochondrial function might be a reasonably common finding in persons with autism,” says Natowicz of the Cleveland Clinic. Yet researchers are divided over the degree to which mitochondrial dysfunction actually contributes to the autistic phenotype, and over whether people with OXPHOS disorders are a clinically distinct population of autistic individuals or no different from most who suffer from autism. more large population-based studies might answer that question, says Natowicz, but they have yet to be done. “this is a central question [in autism] that needs much more attention,” he concludes.

Genome-wide association studies are wonderful. The problem is they don’t include energetics.—Douglas Wallace

But nowhere is the study of altered metabolism more popular than in cancer research. Researchers have long observed that metabolism in tumors is different from metabolism in noncancerous cells, possibly because cancer cells must accommodate the increased metabolic demands of rapid cell proliferation. The study of metabolism in cancer cells has “exploded” over the last five years, says Eyal Gottlieb, a researcher at the Beatson Institute for Cancer Research in Glasgow, Scotland. There are hundreds of papers describing mitochondrial DNA mutations in cancer, including Wallace’s own work identifying mtDNA mutations in prostate cancer.14 But alterations in mitochondrial DNA and function could be a consequence of a cancerous phenotype, rather than the cause. There are some instances where scientists have demonstrated a direct causal role of mitochondria dysfunction in cancer,15 but such cases are, at the moment, “the exception to the rule,” says Gottlieb. still, he adds, “There is a link there, even if we don’t fully understand it.”

For now, the role of mitochondria in common diseases continues to be investigated in numerous studies. still, the majority of clinicians in all of these fields—even in Parkinson’s, where the evidence seems strongest—have not embraced Wallace’s paradigm-shifting theory.

a new concept of medicine

Wallace walks down a long, empty corridor. to the right, row after row of sparkling lab benches stand empty and waiting. Today, only twenty-one people fill one of the four lab bays that will make up the new center, but already the team is tackling projects in metabolic syndrome, cancer, heart disease, and aging. Wallace has plans to hire more new faculty plus support staff this year.

He reaches the end of the corridor and turns, walking into one of the center’s new conference rooms, which appropriately overlooks a silent power plant, silhouetted against the cold Philadelphia sunset. his voice has grown hoarse. He settles back into a chair. In the end, Wallace, whose mother had Alzheimer’s and whose son is autistic, isn’t out to criticize his colleagues, but to save lives. “I don’t know how long it’s going to take for people to see this is relevant,” he says with a sigh, looking out at the quiet plant below. “We now have a mitochondrial, energy-based concept of medicine, which beautifully explains in a simple way all the previous inexplicable problems. Things are only complex when we don’t understand them.”

Methods: ID’ing Disease-Related Mutations in Mitochondrial DNA

In the effort to identify mitochondrial DNA (mtDNA) mutations associated with human disease, a major hurdle has been the fact that there is no “normal” mtDNA sequence. as Wallace and colleagues discovered beginning in the 1980s, human populations around the world have high levels of variation in mtDNA, which can be sorted into distinct haplogroups, or branches, reflecting their geographic origins.

Lucy Reading-Ikkanda (map); Source: Copyright 2002 © Mitomap.org

mtDNA in modern humans dates back to Africa some 150,000 to 200,000 years ago. Based on samples of mtDNA collected around the world over decades, Wallace’s team has mapped this remarkable correlation between mtDNA variation and place of origin: as humans spread around the globe out of Africa, populations acquired adaptive mutations allowing them to thrive in different climates. (See map at left: letters denote mtDNA lineages.) In cold regions, for example, lineages acquired mtDNA mutations that resulted in a less-efficient oxidative phosphorylation system, with decreased ATP production, but increased heat production.

This high degree of mtDNA variation puts clinicians in a quandary. how can one identify which variations cause disease and which are simply the result of a person’s geographic origins? For example, sequencing the mtDNA of more than 500 patients known to suffer from mitochondrial cardiomyopathy resulted in over 200 different sequence variants—far too many to identify a culprit.

To resolve the issue, Wallace and his team recently designed an automated analysis system they call MITOMASTER to compare the mtDNA sequences of patients with a database of thousands of mtDNA haplogroups. Analyzing the mtDNA sequences of 29 Italian patients with mitochondrial heart disease, the researchers identified 593 mtDNA variants, but found that 98 percent of them were haplogroup-associated. Six mutations, however, were novel and not associated with a haplogroup, suggesting they were possible disease contributors (Eur J Hum Genet. 19:200-07, 2011). The approach demonstrates that clinicians shouldn’t be analyzing individual mtDNA sequences in isolation, and that automated systems can help researchers ferret out links between mtDNA mutations and disease pathology.

7. B.H. Graham et al., “a mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator,” Nat Genetics, 16:226-34, 1997. 10. P.E. Coskun et al., “Alzheimer’s brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication,” PNAS, 101:10726–31, 2004.

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BoysRising.blogspot.com

Going Gluten-Free for your Health

I know a 15 year old with Autism who recently does not like anything about his 12 year old sister. when she walks in the room, he blows the air to get rid of her germs and will not be close to her at all. He will not talk to her, will not use the same bathroom as she does, does not like the sound of her voice, etc. He pretty much does not like her at all. He is fine with his 10 year old brother and his parents and even anyone else that he may come into contact with. this, of course, is very upsetting to his sister. She wants to look up to her older brother so much but it is so hard for her right now. you can imagine how hard this is for her and the rest of the family. Does anyone have any ideas as to why this troubles him so much? it has only surfaced within the last 2 years or so.

most autistics have a social isolation problem, and tend to be isolated from the world. unfotunately, autistics do not know much difference between bullies and "good" people, so he might have accidentally mistaken his sister as a bully.

Autism or adolescence?
Only based on this fact, seems adolescence rather than autism.
Quite natural, take it easy.

The Kinect motion controller is no stranger to medical procedures as we reported in January it is slowly being deployed in the operating theater to aid surgeons. But now researchers at the University of Minnesota are aiming to utilize Microsoft’s Kinect sensors once more as a way to measure disorder symptoms in children.

The team, comprised of a number of researches from Minnesota’s Medical, Science and Engineering and Education/Human Development colleges, were given a $3 million National Science Foundation grant to use the Kinect in their research. they were looking at ways to observe and analyze abnormal behavior and movements in children. these patterns could then indicate possible behavioral problems such as OCD, autism and attention-deficit disorders.

Traditionally, these observations were carried out by humans via video recordings of the patients. But one of the lead researchers of the project believes the Kinect-based system could take the subjectivity out of the process. This in turn could result in significant savings in the thousands of dollars over other traditional diagnosis methods and procedures. in some cases the Kinect system could end up reducing costs by up to $100,000 and also prevent the need to attach intrusive sensors to the child.

Open source PC drivers and Microsoft’s official SDK for Kinect that were released earlier this month  (spring for non-commercial use) are helping the researchers adapt the technology to their needs. But it will be another six months before their system is ready for testing.

Read more at Gamasutra

Brett’s Opinion

The Kinect may not be pumping out a lot of must-have titles at the moment, but its use as a non-gaming platform seems to be the best way to make use from the $150 device.

Already we have seen some pretty adventurous adaptations, such as the Star Wars hologram and the Minority Report-style gesture system. What will come next is anyone’s guess, but with over 8 million units sold it’s only a matter of time before some other exciting project gets created.