Chapter 7. Life-Span Development of the Brain and Behavior
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Owning a cat as a kid could put you at risk for schizophrenia and bipolar disorder later on because of parasites found in feline feces, new research says. Previous studies have linked the parasite toxoplasma gondii (T. gondii) to the development of mental disorders, and two more research papers published recently provide further evidence. Researchers from the Academic Medical Centre in Amsterdam looked at more than 50 studies and found that a person infected with the parasite is nearly twice as likely to develop schizophrenia. The other study, led by Dr. Robert H. Yolken of Johns Hopkins University School of Medicine in Baltimore, confirmed the results of a 1982 questionnaire that found half of people who had a cat as a kid were diagnosed with mental illnesses later in life compared to 42% of those who didn't grow up with a cat. "Cat ownership in childhood has now been reported in three studies to be significantly more common in families in which the child is later diagnosed with schizophrenia or another serious mental illness," the authors said in a press release. The findings were published in Schizophrenia Research and Acta Psychiatrica Scandinavica. T. gondii, which causes the disease toxoplasma, is especially risky for pregnant women and people with weak immune symptoms. The parasite can also be found in undercooked meat and unwashed fruits and vegetables.
By Sue Bailey, The Canadian Press Scientific studies increasingly suggest marijuana may not be the risk-free high that teens — and sometimes their parents — think it is, researchers say. Yet pot is still widely perceived by young smokers as relatively harmless, said Dr. Romina Mizrahi, director of the Focus on Youth Psychosis Prevention clinic and research program at the Centre for Addiction and Mental Health. She cites a growing body of research that warns of significantly higher incidence of hallucinations, paranoia and the triggering of psychotic illness in adolescent users who are most predisposed. "When you look at the studies in general, you can safely say that in those that are vulnerable, it doubles the risk." Such fallout is increasingly evident in the 19-bed crisis monitoring unit at the Children's Hospital of Eastern Ontario in Ottawa. "I see more and more cases of substance-induced psychosis," said Dr. Sinthu Suntharalingam, a child and adolescent psychiatrist. "The most common substance that's abused is cannabis." One or two cases a week are now arriving on average. "They will present with active hallucinations," Suntharalingam said. "Parents will be very scared. They don't know what's going on. "They'll be seeing things, hearing things, sometimes they will try to self-harm or go after other people." Potential effects need to be better understood She and Mizrahi, an associate professor in psychiatry at University of Toronto, are among other front-line professionals who say more must be done to help kids understand potential effects. "They know the hard drugs, what they can do," Suntharalingam said. "Acid, they'll tell us it can cause all these things so they stay away from it. But marijuana? They'll be: 'Oh, everybody does it."' Mizrahi said the message isn't getting through. ©2015 CBC/Radio-Canada.
by Helen Thomson For the first time, scientists have discovered a mechanism in humans that could explain how your lifestyle choices may impact your children and grandchildren's genes. Mounting evidence suggests that environmental factors such as smoking, diet and stress, can leave their mark on the genes of your children and grandchildren. For example, girls born to Dutch women who were pregnant during a long famine at the end of the second world war had twice the usual risk of developing schizophrenia. Likewise, male mice that experience early life stress give rise to two generations of offspring that have increased depression and anxiety, despite being raised in a caring environment. This has puzzled many geneticists, as genetic information contained in sperm and eggs is not supposed to be affected by the environment, a principle called the August Weismann barrier. But we also know the activity of our own genes can be changed by our environment, through epigenetic mechanisms . These normally work by turning a gene on or off by adding or subtracting a methyl group to or from its DNA. These methyl groups can inactivate genes by making their DNA curl up, so that enzymes can no longer access the gene and read its instructions. Such epigenetic mechanisms are high on the list of suspects when it comes to explaining how environmental factors that affect parents can later influence their children, such as in the Dutch second world war study, but just how these epigenetic changes might be passed on to future generations is a mystery. © Copyright Reed Business Information Ltd.
Rebecca Hersher Greg O'Brien sees things that he knows aren't there, and these visual disturbances are becoming more frequent. That's not uncommon; up to 50 percent of people who have Alzheimer's disease experience hallucinations, delusions or psychotic symptoms, recent research suggests. At first, he just saw spider-like forms floating in his peripheral vision, O'Brien says. "They move in platoons." But in the last year or so, the hallucinations have been more varied, and often more disturbing. A lion. A bird. Sprays of blood among the spiders. Over the past five months, O'Brien has turned on an audio recorder when the hallucinations start, in hopes of giving NPR listeners insight into what Alzheimer's feels like. For now, he says, "I'm able to function. But I fear the day, which I know will come, when I can't." Interview Highlights [It's] St. Patrick's Day, about 9 o'clock in the morning in my office, and they're coming again. Those hallucinations. Those things that just come into the mind when the mind plays games. And then I see the bird flying in tighter and tighter and tighter circles. And all of a sudden, the bird — beak first — it darted almost in a suicide mission, exploding into my heart. Today I'm just seeing this thing in front of me. It looks like a lion, almost looks like something you'd see in The Lion King, and there are birds above it. It's floating, and it disintegrates ... it disintegrates ... it disintegrates.
Boer Deng The ability of the bizarre prion protein to cause an array of degenerative brain conditions may help solve a puzzle in Alzheimer's research — why the disease sometimes kills within a few years, but usually causes a slow decline that can take decades. By adopting tools used to study the prion protein, PrP, researchers have found variations in the shape of a protein involved in Alzheimer’s that may influence how much damage it causes in the brain. At the Prion 2015 meeting, held on 26–29 May in Fort Collins, Colorado, neuroscientist Lary Walker described how he has borrowed a technique from prion research to study different ‘strains’ of the amyloid-β protein, which accumulates in clumps in the brains of people with Alzheimer’s. It may be that differences between the strains account for variations in the disease’s symptoms and rate of progression. “The Alzheimer’s field has not been paying enough attention to what’s happening in the prion field,” says Walker, who is based at Emory University in Atlanta, Georgia. Similarities between rare prion diseases and common neurodegenerative diseases such as Alzheimer’s have been noted for decades: both are thought to involve proteins in the nervous system that change shape and clump together. In prion diseases, a misfolded, often foreign, protein induces cascading malformation of the native prion protein in a patient’s brain. In Alzheimer’s, proteins called tau and amyloid-β accumulate within and around nerve cells, though what triggers that process — and the role of the deposits in the disease — is unclear. © 2015 Nature Publishing Group,
A patient tormented by suicidal thoughts gives his psychiatrist a few strands of his hair. She derives stem cells from them to grow budding brain tissue harboring the secrets of his unique illness in a petri dish. She uses the information to genetically engineer a personalized treatment to correct his brain circuit functioning. Just Sci-fi? Yes, but... An evolving “disease-in-a-dish” technology, funded by the National Institutes of Health (NIH), is bringing closer the day when such a seemingly futuristic personalized medicine scenario might not seem so far-fetched. Scientists have perfected mini cultured 3-D structures that grow and function much like the outer mantle – the key working tissue, or cortex — of the brain of the person from whom they were derived. Strikingly, these “organoids” buzz with neuronal network activity. Cells talk with each other in circuits, much as they do in our brains. Sergiu Pasca, M.D. External Web Site Policy, of Stanford University, Palo Alto, CA, and colleagues, debut what they call “human cortical spheroids,” May 25, 2015 online in the journal Nature Methods. Prior to the new study, scientists had developed a way to study neurons differentiated from stem cells derived from patients’ skin cells — using a technology called induced pluripotent stem cells (iPSCs). They had even produced primitive organoids by coaxing neurons and support cells to organize themselves, mimicking the brain’s own architecture. But these lacked the complex circuitry required to even begin to mimic the workings of our brains.
Keyword: Development of the Brain
Link ID: 20998 - Posted: 05.30.2015
by Andy Coghlan A man in his mid-50s with Parkinson's disease had fetal brain cells injected into his brain last week. He is the first person in nearly 20 years to be treated this way – and could recover full control of his movements in roughly five years. "It seemed to go fine," says Roger Barker of the University of Cambridge, who is leading the international team that is reviving the procedure. The treatment was pioneered 28 years ago in Sweden, but two trials in the US reported no significant benefit within the first two years following the injections, and the procedure was abandoned in favour of deep brain stimulation treatments. What these trials overlooked is that it takes several years for fetal cells to "bed in" and connect properly to the recipient's brain. Many Swedish and North American recipients improved dramatically, around three years or more after the implants – long after the trials had finished. "In the best cases, patients who had the treatment pretty much went back to normal," says Barker. After the fetal cells were wired up properly in their brains, they started producing the brain signalling chemical dopamine – low levels of this cause the classic Parkinson's symptom of uncontrolled movements. In fact, the cells produced so much dopamine that many patients could stop taking their Parkinson's drugs. "The prospect of not having to take medications for Parkinson's is fantastic," says James Beck of the Parkinson's Disease Foundation in the US. © Copyright Reed Business Information Ltd
Children developed better fine-motor skills when the clamping of their umbilical cord at birth was delayed several minutes compared with just seconds, according to a new randomized trial. Delaying clamping allows fetal blood circulating in the placenta to be transfused to the infant, which has been shown to reduce iron deficiency at four to six months of age. Now the longer term benefits of a delay are becoming clearer. Researchers in Sweden randomly assigned 382 full-term infants born after low-risk pregnancies to be clamped at least three minutes after delivery or within 10 seconds of birth. When the children were four, a psychologist assessed them on standard tests of IQ, motor skills and behaviour. The parents also filled in questionnaires about their child's communication and social skills. "Delayed cord clamping compared with early cord clamping improved scores and reduced the number of children having low scores in fine-motor skills and social domains," the study's lead author, Dr. Ola Andersson of Uppsala University in Sweden, and his co-authors said in Tuesday's issue of JAMA Pediatrics. The fine-motor skill tests showed those in the delayed clamping group had a more mature pencil grip. There was also a difference in boys, who researchers said are generally more prone to iron deficiency than girls. Boys showed more improvements in fine-motor skills with delayed clamping. Andersson said delayed cord clamping can have quite an effect on the amount of iron in the blood, which is important for brain development just after birth. ©2015 CBC/Radio-Canada.
Keyword: Development of the Brain
Link ID: 20988 - Posted: 05.27.2015
By Tina Hesman Saey Combatants in the age-old battle of nature versus nurture may finally be able to lay down their arms. On average, both nature and nurture contribute roughly equally to determining human traits. Researchers compiled data from half a century’s worth of studies on more than 14 million pairs of twins. The researchers measured heritability — the amount of variation in a characteristic that can be attributed to genes — for a wide variety of human traits including blood pressure, the structure of the eyeball and mental or behavioral disorders. All traits are heritable to some degree, the researchers report May 18 in Nature Genetics. Traits overall had an average heritability of 49 percent, meaning it’s a draw between genes and environment. Individual traits can be more strongly influenced by one or the other. 100% Fraction of human traits with a genetic component 49% Fraction of variability in human traits determined by genes T.J.C. Polderman et al. Meta-analysis of the heritability of human traits based on fifty years of twin studies. Nature Genetics. Published online May 18, 2015. doi:10.1038/ng.3285. © Society for Science & the Public 2000 - 2015.
By Tara Haelle Thousands of infants each year die in their cribs from sudden infant death syndrome (SIDS) for reasons that have remained largely a mystery. A study published May 25 provides strong evidence that oxygen deprivation plays a big role. One reason the cause of SIDS has been so difficult to study is the sheer number of variables researchers have had to account for: whether the infant sleeps face down, breathes secondhand smoke or has an illness as well as whether the child has an unidentified underlying susceptibility. To isolate the effects of oxygen concentration, researchers from the University of Colorado compared the rate of SIDS in infants living at high altitudes, where the air is thin, to those living closer to sea level. Infants at high altitudes, they found, were more than twice as likely to die from SIDS. It was “very clever of the authors,” says Michael Goodstein, a pediatrician and member of the 2010–2011 Task Force on Sudden Infant Death Syndrome who was not involved in the study. “The authors did a good job controlling for other variables,” he adds. Beyond the risk of living at high altitudes, the study suggests a common link among different risk factors about the causes of SIDS. For example, the authors note that sleeping on the stomach and exposure to tobacco smoke can also contribute to hypoxia—insufficient oxygen reaching the tissues. Similarly, past research has suggested that sleeping on soft surfaces may shift the chin down, partly obstructing the airway, which might cause an infant to breathe in less oxygen. It’s unclear how hypoxia might contribute to SIDS but it could have to do with a buildup of carbon dioxide in the tissues when a child does not wake up. © 2015 Scientific American
Nala Rogers Alzheimer’s disease may have evolved alongside human intelligence, researchers report in a paper posted this month on BioRxiv1. The study finds evidence that 50,000 to 200,000 years ago, natural selection drove changes in six genes involved in brain development. This may have helped to increase the connectivity of neurons, making modern humans smarter as they evolved from their hominin ancestors. But that new intellectual capacity was not without cost: the same genes are implicated in Alzheimer's disease. Kun Tang, a population geneticist at the Shanghai Institutes for Biological Sciences in China who led the research, speculates that the memory disorder developed as ageing brains struggled with new metabolic demands imposed by increasing intelligence. Humans are the only species known to develop Alzheimer's; the disease is absent even in closely related primate species such as chimpanzees. Tang and his colleagues searched modern human DNA for evidence of this ancient evolution. They examined the genomes of 90 people with African, Asian or European ancestry, looking for patterns of variation driven by changes in population size and natural selection. Marked by selection The analysis was tricky, because the two effects can mimic each other. To control for the effects of population changes ― thereby isolating the signatures of natural selection — the researchers estimated how population sizes changed over time. Then they identified genome segments that did not match up with the population history, revealing the DNA stretches that were most likely shaped by selection. © 2015 Nature Publishing Group
Scientists at Mayo Clinic, Jacksonville, Florida created a novel mouse that exhibits the symptoms and neurodegeneration associated with the most common genetic forms of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS, Lou Gehrig’s disease), both of which are caused by a mutation in the a gene called C9ORF72. The study was partially funded by the National Institutes of Health and published in the journal Science. More than 30,000 Americans live with ALS, which destroys nerves that control essential movements, including speaking, walking, breathing and swallowing. After Alzheimer’s disease, FTD is the most common form of early onset dementia. It is characterized by changes in personality, behavior and language due to loss of neurons in the brain’s frontal and temporal lobes. Patients with mutations in the chromosome 9 open reading frame 72 (C9ORF72) gene have all or some symptoms associated with both disorders. “Our mouse model exhibits the pathologies and symptoms of ALS and FTD seen in patients with theC9ORF72 mutation,” said the study’s lead author, Leonard Petrucelli, Ph.D., chair and Ralph and Ruth Abrams Professor of the Department of Neuroscience at Mayo Clinic, and a senior author of the study. “These mice could greatly improve our understanding of ALS and FTD and hasten the development of effective treatments.” To create the model, Ms. Jeannie Chew, a Mayo Graduate School student and member of Dr. Petrucelli’s team, injected the brains of newborn mice with a disease-causing version of the C9ORF72 gene. As the mice aged, they became hyperactive, anxious, and antisocial, in addition to having problems with movement that mirrored patient symptoms.
by Clare Wilson Does this qualify as irony? Our bodies need iron to be healthy – but too much could harm our brains by bringing on Alzheimer's disease. If that's the case, measuring people's brain iron levels could help identify those at risk of developing the disease. And since we already have drugs that lower iron, we may be able to put the brakes on. Despite intense efforts, the mechanisms behind this form of dementia are still poorly understood. For a long time the main suspect has been a protein called beta-amyloid, which forms distinctive plaques in the brain, but drugs that dissolve it don't result in people improving. Not so good ferrous Studies have suggested that people with Alzheimer's also have higher iron levels in their brains. Now it seems that high iron may hasten the disease's onset. Researchers at the University of Melbourne in Australia followed 144 older people who had mild cognitive impairment for seven years. To gauge how much iron was in their brains, they measured ferritin, a protein that binds to the metal, in their cerebrospinal fluid. For every nanogram per millilitre people had at the start of the study, they were diagnosed with Alzheimer's on average three months earlier. The team also found that the biggest risk gene for Alzheimer's, ApoE4, was strongly linked with higher iron, suggesting this is why carrying the gene makes you more vulnerable. Iron is highly reactive, so it probably subjects neurons to chemical stress, says team member Scott Ayton. © Copyright Reed Business Information Ltd
Link ID: 20957 - Posted: 05.20.2015
By PAM BELLUCKM The largest analysis to date of amyloid plaques in people’s brains confirms that the presence of the substance can help predict who will develop Alzheimer’s and determine who has the disease. Two linked studies, published Tuesday in JAMA, also support the central early role in Alzheimer’s of beta amyloid, the protein that creates plaques. Data from nearly 9,500 people on five continents shows that amyloid can appear 20 to 30 years before symptoms of dementia, that the vast majority of Alzheimer’s patients have amyloid and that the ApoE4 gene, known to increase Alzheimer’s risk, greatly accelerates amyloid accumulation. The findings also confirm that amyloid screening, by PET scan or cerebral spinal fluid test, can help identify people for clinical trials of drugs to prevent Alzheimer’s. Such screening is increasingly used in research. Experts say previous trials of anti-amyloid drugs on people with dementia failed because their brains were already too damaged or because some patients, not screened for amyloid, may not have had Alzheimer’s. “The papers indicate that amyloid imaging is important to be sure that the drugs are being tested on people who have amyloid,” said Dr. Roger Rosenberg, the director of the Alzheimer’s Disease Center at the University of Texas Southwestern Medical Center at Dallas, who wrote an editorial about the studies. Dr. Samuel Gandy, an Alzheimer’s researcher at Mount Sinai Hospital, who was not involved in the research, said doctors “can feel fairly confident that amyloid is due to Alzheimer’s.” But he and others cautioned against screening most people without dementia because there is not yet a drug that prevents or treats Alzheimer’s, and amyloid scans are expensive and typically not covered by insurance. © 2015 The New York Times Company
Link ID: 20956 - Posted: 05.20.2015
by Ashley Yeager This guest post is by SN's web producer Ashley Yeager, who can't remember ever not knowing how to swim. Sometimes my brother-in-law will scoop up my 2-year-old niece and fly her around like Superwoman. She’ll start kicking her legs and swinging her arms like she’s swimming — especially when we say, “paddle, paddle, paddle.” My niece, Baby D, loves the water. She often looks like one of the kids captured in famed photographer Seth Casteel’s new book, Underwater Babies. But she probably won’t remember her first trips to the pool — she was only a few months old when her mom first took her swimming. Part of my sister’s reasoning for such an early start was standard water safety. Every day in the United States, accidental drowning claims the lives of two children under the age of 14 years. Our family spends a lot of time at the pool and the beach, so making sure Baby D is protected is a priority. But there’s another reason my sister was keen to get Baby D to the pool. Loosely based on something our mother told us, it’s that learning to swim early in life may give kids a head start in developing balance, body awareness and maybe even language and math skills. Mom may have been right. A multi-year study released in 2012 suggests that kids who take swim lessons early in life appear to hit certain developmental milestones well before their nonswimming peers. In the study, Australian researchers surveyed about 7,000 parents about their children’s development and gave 177 kids aged 3 to 5 years standard motor, language, memory and attention tests. Compared with kids who didn’t spend much time in the water, kids who had taken swim lessons seemed to be more advanced at tasks like running and climbing stairs and standing on their tiptoes or on one leg, along with drawing, handling scissors and building towers out of blocks. © Society for Science & the Public 2000 - 2015.
Monica Tan The age-old question of whether human traits are determined by nature or nurture has been answered, a team of researchers say. Their conclusion? It’s a draw. By collating almost every twin study across the world from the past 50 years, researchers determined that the average variation for human traits and disease is 49% due to genetic factors and 51% due to environmental factors. University of Queensland researcher Beben Benyamin from the Queensland Brain Institute collaborated with researchers at VU University of Amsterdam to collate 2,748 studies involving more than 14.5 million pairs of twins. “Twin studies have been conducted for more than 50 years but there is still some debate in terms of how much the variation is due to genetic or environmental factors,” Benyamin said. He said the study showed the conversation should move away from nature versus nature, instead looking at how the two work together. “Both are important sources of variation between individuals,” he said. While the studies averaged an almost even split between nature and nurture, there was wide variation within the 17,800 separate traits and diseases examined by the studies. For example, the risk for bipolar disorder was found to be 68% due to genetics and only 32% due to environmental factors. Weight maintenance was 63% due to genetics and 37% due to environmental factors. In contrast, risk for eating disorders was found to be 40% genetic and 60% environmental, whereas the risk for mental and behavioural disorders due to use of alcohol was 41% genetic and 59% environmental. © 2015 Guardian News and Media Limited
Keyword: Genes & Behavior
Link ID: 20948 - Posted: 05.19.2015
Alexandra Sifferlin Autism, already a mysterious disorder, is even more puzzling when it comes to gender differences. For every girl diagnosed with autism, four boys are diagnosed, a disparity researchers don’t yet fully understand. In a new study published in the journal Molecular Autism, researchers from the UC Davis MIND Institute tried to figure out a reason why. They looked at 112 boys and 27 girls with autism between ages 3 and 5 years old, as well as a control sample of 53 boys and 29 girls without autism. Using a process called diffusion-tensor imaging, the researchers looked at the corpus callosum — the largest neural fiber bundle in the brain — in the young kids. Prior research has shown differences in that area of the brain among people with autism. They found that the organization of these fibers was different in boys compared with girls, especially in the frontal lobes, which play a role in executive functions. “The sample size is still limited, but this work adds to growing body of work suggesting boys and girls with autism have different underlying neuroanatomical differences,” said study author Christine Wu Nordahl, an assistant professor in the UC Davis Department of Psychiatry and Behavioral Sciences, in an email. In other preliminary research presented at the International Meeting for Autism Research, or IMFAR, in Salt Lake City, the study authors showed that when girls and boys with autism are compared with typically developing boys and girls, the behavioral differences between girls with autism and the female controls are greater than the differences among the boys. Nordahl says this suggests that girls can be more severely affected than boys.
Jane Brody With people worldwide living longer, marketers are seizing on every opportunity to sell remedies and devices that they claim can enhance memory and other cognitive functions and perhaps stave off dementia as people age. Among them are “all-natural” herbal supplements like Luminene, with ingredients that include the antioxidant alpha lipoic acid, the purported brain stimulant ginkgo biloba, and huperzine A, said to increase levels of the neurotransmitter acetylcholine; brain-training games on computers and smartphones; and all manner of puzzles, including crosswords, sudoku and jigsaw, that give the brain a workout, albeit a sedentary one. Unfortunately, few such potions and gizmos have been proven to have a meaningful, sustainable benefit beyond lining the pockets of their sellers. Before you invest in them, you’d be wise to look for well-designed, placebo-controlled studies that attest to their ability to promote a youthful memory and other cognitive functions. Even the widely acclaimed value of doing crossword puzzles has been called into question, beyond its unmistakable benefit to one’s font of miscellaneous knowledge. Although there is some evidence that doing crosswords may help to delay memory decline, Molly Wagster, a neuroscientist at the National Institute on Aging, said they are best done for personal pleasure, not brain health. “People who have done puzzles all their lives have no particular cognitive advantage over anyone else,” she said. The institute is one of several scientific organizations sponsoring rigorous trials of ways to cash in on the brain’s lifelong ability to generate new cells and connections. One such trial, Advanced Cognitive Training for Independent and Vital Elderly, or Active, was a 10-year follow-up study of 2,832 cognitively healthy community-dwelling adults 65 and older. © 2015 The New York Times Company
Margaret Wente Child psychiatrist Susan Bradley was a pioneer in treating kids with gender-identity disorders. In the 1970s, she founded the child and adolescent gender identity clinic at the Clarke Institute in Toronto, which eventually became part of the Centre for Addiction and Mental Health (CAMH). Back then, the field was virtually unknown. Today, it is Ground Zero in a fierce battle between oldfangled psychiatry and transgender activists who insist that practitioners like Dr. Bradley are guilty of child abuse. Caught in the middle are confused parents, well-meaning schools, and – most important of all – troubled and bewildered kids. The new rush to turn little Jason into Janey, or Sally into Sam, is generally regarded (in the media, at least) as progress – proof of what a tolerant and progressive society we’ve become. But what if it’s just another fad? What if the radical step of changing genders isn’t always the right answer for a child’s emotional distress – especially when that child is only 10 or 6, or 3? “Some of these kids are quite significantly ill,” says Dr. Bradley. “They often have serious family problems and anxiety disorders. Or they’ve had serious trauma. A girl I saw had been raped, and after that she decided she was going to be a male. If you didn’t pay attention to the trauma you’re not doing that kid a service.” These days, that eminently reasonable view is being challenged by people who believe that children’s sexual confusion should automatically be taken at face value. The clinic that Dr. Bradley helped to found – which does, in fact, support gender transition for a sizable minority of its patients – is being pilloried as transphobic. “Is CAMH trying to turn trans kids straight?” screamed a headline in NOW magazine. Under pressure from activists, CAMH has put its gender clinic under six-month review. And a new bill before the Ontario legislature, which is supported by Premier Kathleen Wynne, would explicitly bar the therapeutic approach taken by the clinic, wrongly equating it to the notorious “conversion” therapy that seeks to turn gay people straight. © Copyright 2015 The Globe and Mail Inc.
By Lisa Sanders, M.D On Thursday we challenged Well readers to solve the difficult case of twin sisters who, in the prime of youth, developed a weakness that forced them to use their arms to rise from a chair. Nearly 300 of you wrote in with thoughts on this difficult case. Many of you recognized that this was likely to be a genetic disorder, though I greatly admired the “House”-ian thinking that led to a host of possible reasons why two sisters, living in different states, might develop the same symptoms independent of their shared DNA. It took this patient, Katie Buryk, four years to get her answer, which was: Late onset Tay-Sachs disease Although several of you made this difficult diagnosis, the first to do so was George Bonadurer, a second year medical student at Mayo Medical School in Rochester, Minn. He says he recently read about this disease in a book of unusual cases that had come to the Mayo clinic for help. This is actually Mr. Bonadurer’s second win of this contest. Strong work! Tay-Sachs disease was first identified by two physicians, independently, in the 1880s. Dr. Warren Tay was an ophthalmologist in London. Dr. Bernard Sachs was a neurologist in New York City. Each described a disease in infants that caused profound weakness, blindness and, usually by age 4, death. Careful consideration of cases over the following decades showed that the disease was inherited and often seen in children of Ashkenazi descent. Studying the patterns of inheritance, it became clear that both parents had to have the abnormal gene and that each of their children would have a one in four chance of being born with the disease. The terrible manifestations of the disease derive from an inherited inability to make an essential protein in the brain. This protein acts to break down discarded components of the cells. Without this protein, these discarded cell parts accumulate, interrupting normal nerve and brain cell functioning. This mechanism and the missing protein was identified in 1969, allowing for the development of a test for carriers. Since the development of this test, the incidence of Tay-Sachs in the United States has dropped by 90 percent. © 2015 The New York Times Company