Scientists discover new diagnostic markers for Kawasaki disease

Dec. 18, 2012 — Researchers have discovered proteins in human urine that offer new opportunities for the diagnosis, study and maybe even the treatment of Kawasaki disease. Mass spectrometry-based proteomic analysis of the human urine proteome, the entire set of proteins found in human urine, uncovered molecular markers that offer significant improvements for the diagnosis of the disease.

The results are reported in a new study published in EMBO Molecular Medicine.

"There is no diagnostic test for Kawasaki disease. Currently available diagnostic markers lack the specificity and sensitivity needed for reliable detection of the disease which has motivated our decision to use proteomics to identify new, improved biomarkers," said Susan Kim, a rheumatologist at Boston Children's Hospital and an instructor at Harvard Medical School. "Kawasaki disease is often difficult to diagnose and is the most prevalent cause of acquired childhood heart disease in the developed world. Failure to detect it can lead to coronary artery aneurysms and in some cases death, particularly in children who are not diagnosed early enough or when the diagnosis is not considered and acted upon due to the presence of only some of the classic symptoms."

Kawasaki disease can occur at any age but is most commonly found in children under the age of five years. The disease appears to influence the immune system in such a way that it attacks its own tissues. This leads to inflammation that can damage blood vessels, most notably around the heart. If untreated, Kawasaki disease leads to coronary artery aneurysms in up to 25% of cases.

The researchers used highly sensitive mass spectrometry techniques to profile the proteome of urine samples collected from children who had symptoms of Kawasaki disease. Several molecules were discovered that were exclusively present in the urine of patients with the disease. In particular, elevated levels of filamin C and meprin A were detected in both human blood and urine samples and show considerable potential for use as diagnostics.

Filamin C is a protein that helps maintain the structural integrity of heart and skeletal muscle. Meprin A is an enzyme that breaks down proteins and which is known to regulate the activities of other proteins linked to inflammation. Both of these markers could be used to identify patients with Kawasaki disease accurately using tests that are readily amenable for routine medical use.

"The urine proteome consists of thousands of protein molecules. Patients with Kawasaki disease have a unique urinary proteome that is distinct from the proteome observed for children with other causes of fever," remarked Hanno Steen, director of the Proteomics Center at Boston Children's Hospital and associate professor at Harvard Medical School. "In a group of 107 patients, we were able to distinguish children with Kawasaki disease from those with mimicking conditions much more reliably and accurately than currently available testing by measuring their levels of meprin A and filamin C in urine." The researchers note that further validation of the diagnostic markers is needed and this work is in progress.

The researchers suggest that the development of clinical tests using these new markers may improve the accuracy of diagnosis of children with suspected Kawasaki disease and assist in the development of new treatments. For this purpose, the scientists have made the analyzed proteomes openly available at the Peptide Atlas (www.peptideatlas.org).

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The above story is reprinted from materials provided by EMBO - excellence in life sciences, via AlphaGalileo.

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Alex Kentsis, Andrew Shulman, Saima Ahmed, Eileen Brennan, Michael C. Monuteaux, Young-Ho Lee, Susan Lipsett, Joao A. Paulo, Fatma Dedeoglu, Robert Fuhlbrigge, Richard Bachur, Gary Bradwin, Moshe Arditi, Robert P. Sundel, Jane W. Newburger, Hanno Steen, Susan Kim. Urine proteomics for discovery of improved diagnostic markers of Kawasaki disease. EMBO Molecular Medicine, 2012; DOI: 10.1002/emmm.201201494

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Extending steroid treatment does not benefit children with hard-to-treat kidney disease, study finds

Dec. 20, 2012 — Extending steroid treatment for the most common form of kidney disease in children provides no benefit for preventing relapses or side effects, according to a study appearing in an upcoming issue of the Journal of the American Society of Nephrology (JASN). The findings challenge previous assumptions about optimal treatment strategies for this disease.

Nephrotic syndrome is the most common kidney disease in childhood. Children with the disease are at risk of developing severe infections and other complications because their kidneys leak important proteins from the blood into the urine. Their bodies also retain water, which results in general discomfort and abdominal pain. Steroids such as prednisolone induce remission in 90-95% of patients; however relapses occur in 60-90% of initial responders. Prolonged prednisolone treatment for initial episodes of childhood nephrotic syndrome may reduce the relapse rate (despite potentially causing serious side effects), but whether this results from an increased duration of treatment or from a higher cumulative dose remains unclear.

To investigate, Nynke Teeninga, MD (Erasmus University Medical Centre at Sophia Children's Hospital, in Rotterdam, the Netherlands) and her colleagues conducted a randomized, double-blind, placebo-controlled trial in 69 hospitals in the Netherlands. They assigned 150 children (nine months to 17 years old) with nephrotic syndrome to either three months of prednisolone followed by three months of placebo or to six months of prednisolone. Patients were followed for an average of 47 months. Both groups received equal cumulative doses of prednisolone (approximately 3360 mg/m2).

Among the major findings: • Among the 126 children who started taking medication, relapses occurred in 48 (77%) of the 62 patients who received three months of prednisolone and in 51 (80%) of the 64 who received six months of prednisolone. • Frequent relapses occurred with similar frequency between groups as well (45% vs 50%). • There were no statistically significant differences between groups with respect to the eventual initiation of prednisolone maintenance and/or other immunosuppressive therapy (50% vs 59%), steroid dependence, or side effects.

"In contrast to what was previously assumed but unproven, we found no beneficial effect of prolonged prednisolone treatment on the occurrence of relapses. We believe our work offers an important contribution towards more evidence-based treatment of childhood nephrotic syndrome," said Dr. Teeninga. Previous findings indicating that prolonged treatment regimens reduce relapses most likely resulted from increased cumulative dose rather than the treatment duration.

Dr. Teeninga added that because many children with nephrotic syndrome face frequent relapses, future research should focus on preventing relapses through new treatment strategies.

Study co-authors include Joana Kist-van Holthe, MD, PhD, Nienske van Rijswijk, MD, Nienke de Mos, MD, Wim Hop, MSc, PhD, Jack Wetzels, MD, PhD, Albert van der Heijden, MD, PhD, Jeroen Nauta, MD, PhD.

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Successful solo rock/pop stars twice as likely to die early as those in a band, study finds

Dec. 19, 2012 — Successful solo rock/pop stars are around twice as likely to die early as those in equally famous bands, indicates research published in the online journal BMJ Open.

And those who died of drug and alcohol problems were more likely to have had a difficult or abusive childhood than those dying of other causes, the findings showed.

The authors included 1489 North American and European rock and pop stars over a 50 year period between 1956 (Elivs Presley) and 2006 (Regina Spektor, The Arctic Monkeys, and Snow Patrol)

Their achievements were determined from international polls and top 40 chart successes, while details of their personal lives/childhoods were drawn from a range of music and official websites, published biographies, and anthologies.

During the 50 year period, 137 (9.2%) famous rock/pop stars died. The average age of death was 45 for North American stars and 39 for those from Europe.

The gap in life expectancy between rock and pop stars and the general population widened consistently until 25 years after fame had been achieved, after which death rates began to approach those of the general population -- but only for European stars.

Solo performers were around twice as likely to die early as those in a band, irrespective of whether they were European (9.8% vs 5.4%) or North American (22.8% vs 10.2%).

A successful solo career may be a proxy for fame, it also raises the question of whether the peer support offered by band-mates may be protective, suggest the authors.

While gender and the age at which fame was reached did not influence life expectancy, ethnicity did, with those from non-white backgrounds more likely to die early. And the chances of survival increased among those achieving fame after 1980.

Nearly half of those who died as a result of drugs, alcohol, or violence had at least one unfavourable factor in their childhoods, compared with one in four of those dying of other causes.

These factors -- referred to as adverse childhood experiences, or ACEs for short -- included physical, sexual, or emotional abuse; living with a chronically depressed, suicidal, mentally or physically ill person; living with a substance abuser; having a close relative in prison; and coming from a broken home or one in which domestic violence featured.

Four out of five dead stars with more than one unfavourable childhood factor died from substance misuse or violence-related causes.

A career as a rock/pop star may be attractive to those escaping an unhappy childhood, but it may also provide the resource to feed a predisposition to unhealthy/risky behaviours, say the authors.

"Pop/rock stars are among the most common role models for children, and surveys suggest that growing numbers aspire to pop stardom," they write. "A proliferation of TV talent shows and new opportunities created by the internet can make this dream appear more achievable than ever."

But they caution: "It is important they [children] recognise that substance use and risk taking may be rooted in childhood adversity rather than seeing them as symbols of success."

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M. A. Bellis, K. Hughes, O. Sharples, T. Hennell, K. A. Hardcastle. Dying to be famous: retrospective cohort study of rock and pop star mortality and its association with adverse childhood experiences. BMJ Open, 2012; 2 (6): e002089 DOI: 10.1136/bmjopen-2012-002089

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Violent crime doesn’t fit in the autism puzzle

Dec. 19, 2012 — As investigators begin to piece together a profile of Connecticut school massacre gunman Adam Lanza, much is being speculated about his possible Asperger's Syndrome diagnosis. But to suggest a tie between autism and violent, sociopathic tendencies is to undermine the large body of research and progress that's been made in understanding the disorder, says autism expert and Executive Director of the Kinney Center for Autism Education and Support at Saint Joseph's University Michelle Rowe, Ph.D.

"We know that children and adults with autism are often misunderstood," she says. "Small talk is not especially easy. Those on the spectrum have trouble understanding sarcasm. They struggle to understand basic social rules -- how to take turns, how to make eye contact.

"We also know that people with autism are not sociopaths. There is no evidence or research that suggests a link between autism and planned violence."

Rowe points to critical differences in the brains of so-called "neuro-typicals" and those on the autism spectrum.

"The prefrontal cortex (the front part of the brain, just above the eyebrows, that most people know as the frontal lobe) helps "neuro-typicals" make sense of the world," she explains. "We make eye contact and assess facial expressions. This is the brain's way of helping us connect with people. Without that skill -- that ability -- wouldn't we all be misunderstood?"

It's a much different world for people living with autism than it was just 10 years ago, Rowe adds. Awareness is at an all-time high. Services are expanding and those on the autism spectrum are being mainstreamed in schools all across the country.

"We've come too far and we know too much to revert back to the days when people with disabilities were locked up out of fear," says Rowe. "We shouldn't fear autism-- not now-- not when we understand more than we ever have about it."

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People without spouses under-represented in Alzheimer's clinical trials

Dec. 19, 2012 — A new study suggests that people without a spouse are represented less in Alzheimer's disease clinical trials compared to people with spouses. The study is published in the December 19, 2012, online issue of Neurology®, the medical journal of the American Academy of Neurology.

"Nationwide, half of all unpaid Alzheimer's disease caregivers are under the age of 50 and as many as 68 percent are the children, children-in-law or grandchildren of these patients," said study author Joshua D. Grill, PhD, Assistant Professor of Neurology at the UCLA Mary S. Easton Center for Alzheimer's Disease Research and a member of the American Academy of Neurology. "In contrast, in our analyses, 67 percent of the 2,041 Alzheimer's clinical trial participants had a spouse as their study partner. We found that there were several differences between people with spouse and adult child study partners that could affect the results of the trials and interpretations of those results."

Grill adds that factors such as race and caregiver attitude may also impact recruitment to trials. For example, only five percent of participants across the trials were Hispanic and those with an adult child study partner were twice as likely as those with spouse partners to be Hispanic. In addition, six percent of participants were African-American and those with adult child study partners were nearly three times as likely to be African-American as those with spouse study partners.

For the study, the research team categorized people with Alzheimer's disease based on the type of study partner they had -- either spouse, adult child or other study partners -- from six clinical trials conducted by the Alzheimer's Disease Cooperative Study.

In addition to the differences in enrollment, they found that participants with other study partners were at increased risk to drop out of studies.

After considering other factors, the risk of dropout for the "other" study partner group was 70 percent higher than that for the "spouse" study partner group.

The study was supported by the National Institute on Aging, the Sidell-Kagan Foundation and the Marian S. Ware Alzheimer Program.

To learn more about Alzheimer's disease, visit http://www.aan.com/patients.

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J. D. Grill, R. Raman, K. Ernstrom, P. Aisen, J. Karlawish. Effect of study partner on the conduct of Alzheimer disease clinical trials. Neurology, 2012; DOI: 10.1212/WNL.0b013e31827debfe

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Genetic defect causing fragile X-related disorders more common than thought

Dec. 20, 2012 — A single genetic defect on the X chromosome that can result in a wide array of conditions -- from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in middle-aged men -- occurs at a much greater frequency than previously thought, research led by the UC Davis MIND Institute has found.

The research is based on the first large-scale, multi-center newborn screening effort for the defect in the United States, conducted in a group of more than 14,200 male and female infants at three research university medical centers piloting a new infant screening test developed at UC Davis.

The study, "FMR1 CGG Allele Size and Prevalence Ascertained Through Newborn Screening in the United States," was led by Flora Tassone, professor-in-residence in the Department of Biochemistry and Molecular Medicine, and was conducted using blood spots obtained from infant heel pricks as part of the normal newborn genetic screening process. It is published online Dec. 20 in the journal Genome Medicine.

The investigators examined the prevalence of expanded alleles of the fragile X mental retardation 1 (FMR1) gene. Defects in FMR1 cause conditions as diverse as fragile X syndrome -- the leading cause of intellectual disability and the leading known single-gene cause of autism -- and a Parkinson's disease-like condition called fragile X-associated tremor/ataxia syndrome, or FXTAS. The term "fragile X" is used because of the altered appearance of the X chromosome among sufferers from the conditions.

"This study demonstrates that there is a higher frequency of mutations of the FMR1 gene across racial and ethnic groups than previously believed," said Randi Hagerman, medical director of the UC Davis MIND Institute and one of the world's leading experts on fragile X-related conditions. "It also demonstrates that newborn screening for fragile X mutations is technically feasible in a large-scale setting using the blood spot technique developed by Dr. Tassone."

The degree of disability from defects in FMR1 depends upon the number of repetitions of the sequence of the proteins cytosine-guanine-guanine (CGG) in the promoter region of the gene. The range of repeats in normal individuals is between six and 40. CGG repeats greater than 200 cause what is called the full mutation and fragile X syndrome. Fewer repeats -- in the range of 55 to 200 -- result in a variation called a premutation.

The current study found the estimated prevalence of the premutation to be 1 in 200 females, a finding somewhat greater than earlier estimates. However, it estimates the prevalence among males to be 1 in 400 -- double what had previously been reported. The researchers said that the sample size in the current study was not great enough to estimate the true prevalence of the full fragile X mutation, currently estimated at between 1 in 2,500 and 1 in 8,000 females and 1 in 5,000 males.

While most people with the premutation appear normal, some individuals can have mild difficulties in childhood, such as such as learning problems or emotional difficulties including social anxiety and attention deficit hyperactivity disorder (ADHD), said Hagerman, a professor in the Department of Pediatrics. Individuals with the premutation also can suffer from FXTAS, which causes debilitating tremors, balance problems and dementia primarily in older men, and premature ovarian insufficiency in women.

Tassone, a researcher affiliated with the MIND Institute, is one of the world's leading experts on screening and identification of the FMR1 mutation. Her polymerase chain reaction (PCR)-based test used in the current study was described in January 2008 in the Journal of Molecular Diagnostics.

"This study shows that newborn screening for the FMR1 mutation is technically possible on a large scale," Tassone said. "However, the screening will identify far more carrier and gray-zone infants than those with a full fragile X mutation. As we now know that there may be clinical involvement with these individuals, such as FXTAS, we need to better understand the impact of identifying these mutations on families before widespread newborn screening can be instituted."

Hagerman said that the study is important because early intervention can be helpful for children with these mutations who experience developmental problems. In addition, a baby who is positive for the mutation will have other family members who also carry mutations. Genetic counseling is essential for the family members, in addition to treatment for the medical or psychiatric problems associated with the premutation or full mutation, she said.

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Genomic 'hotspots' offer clues to causes of autism, other disorders

Dec. 20, 2012 — An international team, led by researchers from the University of California, San Diego School of Medicine, has discovered that "random" mutations in the genome are not quite so random after all. Their study, to be published in the journal Cell on December 21, shows that the DNA sequence in some regions of the human genome is quite volatile and can mutate ten times more frequently than the rest of the genome. Genes that are linked to autism and a variety of other disorders have a particularly strong tendency to mutate.

Clusters of mutations or "hotspots" are not unique to the autism genome but instead are an intrinsic characteristic of the human genome, according to principal investigator Jonathan Sebat, PhD, professor of psychiatry and cellular and molecule medicine, and chief of the Beyster Center for Molecular Genomics of Neuropsychiatric Diseases at UC San Diego.

"Our findings provide some insights into the underlying basis of autism -- that, surprisingly, the genome is not shy about tinkering with its important genes" said Sebat. "To the contrary, disease-causing genes tend to be hypermutable."

Sebat and collaborators from Rady Children's Hospital-San Diego and BGI genome center in China sequenced the complete genomes of identical twins with autism spectrum disorder and their parents. When they compared the genomes of the twins to the genomes of their parents, the scientists identified many "germline" mutations (genetic variants that were present in both twins but not present in their mother or father).

Nearly 600 germline mutations -- out of a total of 6 billion base pairs -- were detected in the 10 pairs of identical twins sequenced in the study. An average of 60 mutations was detected in each child.

"The total number of mutations that we found was not surprising," said Sebat, "it's exactly what we would expect based on the normal human mutation rate." What the authors did find surprising was that mutations tended to cluster in certain regions of the genome. When the scientists looked carefully at the sites of mutation, they were able to determine the reasons why some genomic regions are "hot" while other regions are cold.

"Mutability could be explained by intrinsic properties of the genome," said UC San Diego postdoctoral researcher Jacob Michaelson, lead author of the study. "We could accurately predict the mutation rate of a gene based on the local DNA sequence and its chromatin structure, meaning the way that the DNA is packaged."

The researchers also observed some remarkable examples of mutation clustering in an individual child, where a shower of mutations occurred all at once. "When multiple mutations occur in the same place, such an event has a greater chance of disrupting a gene," said Michaelson.

The researchers surmised that hypermutable genes could be relevant to disease. When they predicted the mutation rates for genes, the authors found that genes that have been linked to autism were more mutable than the average gene, suggesting that some of the genetic culprits that contribute to autism are mutation hotspots.

The authors observed a similar trend for other disease genes. Genes associated with dominant disorders tended to be highly mutable, while mutation rates were lower for genes associated with complex traits.

"We plan to focus on these mutation hotspots in our future studies," said Sebat. "Sequencing these regions in larger numbers of patients could enable us to identify more of the genetic risk factors for autism."

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Jacob J. Michaelson, Yujian Shi, Madhusudan Gujral, Hancheng Zheng, Dheeraj Malhotra, Xin Jin, Minghan Jian, Guangming Liu, Douglas Greer, Abhishek Bhandari, Wenting Wu, Roser Corominas, Áine Peoples, Amnon Koren, Athurva Gore, Shuli Kang, Guan Ning Lin, Jasper Estabillo, Therese Gadomski, Balvindar Singh, Kun Zhang, Natacha Akshoomoff, Christina Corsello, Steven McCarroll, Lilia M. Iakoucheva, Yingrui Li, Jun Wang, Jonathan Sebat. Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation. Cell, 2012; 151 (7): 1431 DOI: 10.1016/j.cell.2012.11.019

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Regular family meals together boost kids' fruit and vegetable intake

Dec. 20, 2012 — Regular family meals round a table boosts kids' fruit and vegetable intake, and make it easier for them to reach the recommended five portions a day, indicates research published online in the Journal of Epidemiology and Community Health.

The World Health Organization recommends a daily intake of five 80g portions of fruit and vegetables to promote good health and stave off serious disease and obesity in later life.

And the Department of Health in England has spent around £80 million on campaigns attempting to boost the nation's fruit and vegetable intake and improve dietary habits.

But consumption still falls below recommended levels -- and not just in the UK -- but also in much of Europe, the US and Australia, say the authors.

The home environment is likely to be a key factor, because this is where dietary habits are developed and cues taken from parents who exert the most influence on the quality of a child's diet, they add.

They therefore looked at the diets of more than 2000 primary school children, attending 52 different schools across London. English was a second language for almost half (46%) the kids, whose average age was eight.

Dietary intake at home was assessed using a validated Child and Diet Evaluation Tool (CADET) questionnaire, filled in by parents. CADET uses age and gender specific food portion sizes to calculate nutritional intake and lists 115 separate types of food and drink, divided into 15 categories.

Parents were also asked to complete a home food diary, detailing how often they ate meals together as a family and their own levels of fruit and vegetable consumption.

The CADET analysis showed that, on average, the children ate 293g a day of fruit and vegetables, equivalent to 3.7 portions a day. But those who ate family meals together consumed the most.

Among the 1516 children whose parents completed the home food diaries, those who sometimes ate family meals together ate 95g more fruit and vegetables every day than those who never ate together.

But children who always ate family meals together ate an average of 125g more every day.

Other factors also helped. Children whose parents ate fruit and vegetables every day also ate 88g more, on average, than those whose parents rarely or never did so.

Children whose parents always cut up their fruit and vegetables ate around 44g more than those whose parents did not. And intake increased by 5g for every additional type of produce available in the house.

But in the final analysis, those children who always ate family meals together had higher nutrient intake than those whose families sometimes ate together (4.6 portions) and those whose families never did so (3.3 portions).

And these children reached their recommended five a day quota.

"The results from this study illustrate a positive health message for parents, which could improve their own dietary habits and their children's," write the authors. "The key message..is for families to eat fruit and vegetables together at a mealtime."

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M. S. Christian, C. E. L. Evans, N. Hancock, C. Nykjaer, J. E. Cade. Family meals can help children reach their 5 A Day: a cross-sectional survey of children's dietary intake from London primary schools. Journal of Epidemiology & Community Health, 2012; DOI: 10.1136/jech-2012-201604

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Impact of caring for adult child with disability studied

Dec. 19, 2012 — Caring for an adult child with developmental disabilities or mental illness increased by 38 percent the chances that an aging parent would develop disabilities of their own, according to findings of a new study led by Dr. Subharati Ghosh, a post-doctoral research fellow at the Lurie Institute for Disability Policy in the Heller School for Social Policy and Management at Brandeis University.

The study, published in Psychiatric Services, highlights economic and psycho-social challenges faced by parents of adult children with disabilities, compared with parents of children without disabilities.

When either parent becomes disabled, the study found, families' report lower financial well-being. This being especially true when an aging parent must contend with both the needs of an adult child with mental illness and a spouse who develops an age-related disability.

Not surprisingly, parents are themselves susceptible to developing disabilities and chronic conditions as they age. "By age 60, parents caring for adult children with mental illness were more likely to have a spouse with a disability, than parents of children with developmental disabilities or than those with whose children had no disabilities," Ghosh said.

When one parent of an adult child with mental illness became disabled, the family reported lower financial well-being than a comparison group that did not have a child with disabilities, she said. Parents of adult children with disabilities often bear the costs of care, as many expenses they incur are not fully covered by insurance.

The findings suggest that targeted policy measures may be needed to better support aging parents of adult children with disabilities. These families are highly vulnerable during retirement not only to the onset of their own disabilities, but also to dire financial consequences.

Ghosh's co-authors are Dr. Jan Greenberg and Dr. Marsha Seltzer of the Waisman Center and School of Social Work at the University of Wisconsin-Madison. The study drew its data from the Wisconsin Longitudinal Study, which has followed over 10,000 high school graduates and their families since 1957.

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Subharati Ghosh, Jan S. Greenberg, Marsha Mailick Seltzer. Adaptation to a Spouse’s Disability by Parents of Adult Children With Mental Illness or Developmental Disability. Psychiatric Services, 2012; 63 (11):; 1118-1124 DOI: 10.1176/appi.ps.201200014

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ADHD linked to oxygen deprivation before birth

Dec. 10, 2012 — Children who had in-utero exposure to ischemic-hypoxic conditions, situations during which the brain is deprived of oxygen, were significantly more likely to develop attention deficit hyperactivity disorder later in life as compared to unexposed children, according to a Kaiser Permanente study published in the journal Pediatrics. The findings suggest that events in pregnancy may contribute to the occurrence of ADHD over and above well-known familial and genetic influences of the disorder.

The population-based study examines the association between IHC and ADHD. Researchers examined the electronic health records of nearly 82,000 children ages 5 years old and found that prenatal exposure to IHC -- especially birth asphyxia, neonatal respiratory distress syndrome, and preeclampsia -- was associated with a 16 percent greater risk of developing ADHD. Specifically, exposure to birth asphyxia was associated with a 26 percent greater risk of developing ADHD, exposure to neonatal respiratory distress syndrome was associated with a 47 percent greater risk, and exposure to preeclampsia (high blood pressure during pregnancy) was associated with a 34 percent greater risk. The study also found that the increased risk of ADHD remained the same across all race and ethnicity groups.

"Previous studies have found that hypoxic injury during fetal development leads to significant structural and functional brain injuries in the offspring," said study lead author Darios Getahun, MD, PhD, of the Kaiser Permanente Southern California Department of Research & Evaluation. "However, this study suggests that the adverse effect of hypoxia and ischemia on prenatal brain development may lead to functional problems, including ADHD."

Researchers also found that the association between IHC and ADHD was strongest in preterm births and that deliveries that were breech, transverse (shoulder-first) or had cord complications were found to be associated with a 13 percent increased risk of ADHD. These associations were found to be the case even after controlling for gestational age and other potential risk factors.

"Our findings could have important clinical implications. They could help physicians identify newborns at-risk that could benefit from surveillance and early diagnosis, when treatment is more effective," said Getahun. "We suggest future research to focus on pre- and post-natal conditions and the associations with adverse outcomes, such as ADHD."

During critical periods of fetal organ development, IHC may result in a lack of oxygen and nutrient transport from the mother's blood to fetal circulation. The result may be compromised oxygen delivery to tissues and cerebrovascular complications. However, this study suggests that the adverse effect of hypoxia on prenatal brain development may lead to functional problems, including ADHD.

In 2005, the Centers for Disease Control and Prevention estimated the annual cost of ADHD-related illness in children under 18 years of age to be between $36 billion and $52.4 billion, making the condition a public health priority. In 2010, approximately 8.4 percent of children ages 3 to 17 had been diagnosed with ADHD. For about half the affected children, the disease persists into adulthood, according to CDC statistics. Symptoms of ADHD in children may include attention problems, acting without thinking, or an overly active temperament.

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Darios Getahun, George G. Rhoads, Kitaw Demissie, Shou-En Lu, Virginia P. Quinn, Michael J. Fassett, Deborah A. Wing, and Steven J. Jacobsen. In Utero Exposure to Ischemic-Hypoxic Conditions and Attention-Deficit/Hyperactivity Disorder. Pediatrics, December 10, 2012 DOI: 10.1542/peds.2012-1298

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Tourette syndrome and other tic disorders in children

Dec. 17, 2012 — More than one in every ten schoolchildren suffers from a transient tic disorder, and 1% have a particular type of tic disorder known as Tourette syndrome. In this issue of Deutsches Ärzteblatt International, Andrea G. Ludolph of the Universitätsklinikum Ulm and her coauthors report on the available modes of diagnosis and treatment for these disorders.

Tic disorders usually take a benign course; in about 90% of patients, the tics regress spontaneously in adolescence. Specific treatment is indicated only if the tics are severe or cause evident psychosocial stress. On the other hand, 80% to 90% of all patients with Tourette syndrome have comorbid disorders such as attention deficit—hyperactivity disorder, depression, anxiety, or obsessive-compulsive disorder. These comorbidities often impair patients’ quality of life more than the tics themselves do, and their treatment is, therefore, a priority.

At present, tics cannot be cured, nor is there any treatment aimed at their cause, which remains unknown. Moreover, there is no available treatment that can improve all of the potential symptoms of Tourette syndrome simultaneously while also treating all of its comorbidities. Atypical neuroleptic drugs are the agents of first choice in the treatment of tics, but, before any drug treatment is begun, all patients should first undergo a trial of behavior therapy, whose beneficial effect has been documented by sound scientific evidence. The state of the evidence regarding pharmacotherapy for Tourette syndrome is still poor.

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Ludolph AG, Roessner V, Münchau A, Müller-Vahl K. Tourette syndrome and other tic disorders in childhood, adolescence and adulthood. Dtsch Arztebl Int, 2012; 109(48): 821%u20138 DOI: 10.3238/arztebl.2012.0821

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MECP2 duplication affects immune system as well as brain development

Dec. 5, 2012 — In 1999, Dr. Huda Zoghbi and colleagues at Baylor College of Medicine identified the genetic cause of Rett syndrome (a neurological disorder that begins after birth) -- MECP2 mutation. Too little of the MeCP2 protein associated with the gene causes the girls whom it affects to regress, gradually losing their speech, the use of their hands and many cognitive functions.

In 2005, other researchers identified the other side of the coin -- MECP2 duplication syndrome. Too much of that critical protein results in other neurological problems that occur mainly in infant boys, again affecting their cognition and neurological development. These boys, however, have another troubling problem. They tend to get devastating infections, often pneumonias, that are difficult, and sometimes, impossible, to contain.

In a report that appears online December 5 in the journal Science Translational Medicine researchers from BCM, the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and the Michael E. DeBakey Veterans Affairs Medical Center in Houston identified the culprit in these infections. Again it was the insidious excess of MeCP2.

The study was a true translational enterprise, beginning with observations in the clinic that went into the laboratory for studies in cells and animals and may eventually emerge into the clinic again with new ways of treating and preventing the infections.

Dr. David Corry, professor of medicine and pathology & immunology at BCM, and a corresponding author of the report, said children and mice with this syndrome lack a critical part of the immune system, a cytokine called gamma interferon. Gamma interferon is a vital tool in the immune system's battle against invading viruses and bacteria. Studies of human cells from people with the disorder as well as studies in mice show that both groups lack T helper type 1 (Th1) cells critical to producing gamma interferon.

Their laboratory studies showed that MeCP2 suppressed secretion of gamma interferon from T helper cells, leading to a partial immunodeficiency.

"If you don't have gamma interferon, you are in big trouble," said Corry.

To reinforce their point, he and his colleagues showed that the mice were unable to fight off infection with a parasite called Leishmania major. However, they were able to fend off a fungal infection due to Aspergillus niger by mounting another immune response that involved T helper type 2 cells.

Dr. Melissa Ramocki, assistant professor of pediatrics -- neurology at BCM, and another corresponding author, said many investigators had recognized that there was something different about the infections attacking these boys. In fact she was working in Zoghbi's laboratory when she approached Corry about help with a mouse model that overexpressed the MeCP2 protein.

"Affected boys often die from pneumonia, but the mice are housed in a germ-free facility. So we needed Dr. Corry's expertise to find the problem," she said.

"The next step is to go back and aggressively figure out which pathogens are infecting these children and how best to treat them," she said.

Corry pointed out that before this study it was difficult to justify the risk involved in finding out what infections were plaguing the children. Now, that information might help with treatment and even possibly prevention.

There is also the possibility that the lack of a functioning immune system is somehow encouraging the neurological decline these infants suffer, both Corry and Ramocki said.

"The far-reaching effects of MeCP2 continue to surprise us," said Zoghbi, director of the Neurological Institute and a professor of pediatrics, neurology, neuroscience and molecular and human genetics at BCM. "This study highlights the power of combining clinical research and basic research. The finding that patients with MECP2 duplications suffer recurrent infections inspired studies in the mouse model that illuminated an important role of MeCP2 in immune responses."

Ramocki credits the response of the families of the youngsters with MECP2 duplication syndrome and the power of social media with making the study possible. Forty-five families from four different continents attended a conference on the disorder in May 2011. All communication was via the web and social media. The conference enabled researchers to collect samples from the children with the disorder, their siblings and parents for use in the research.

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Tianshu Yang, Melissa B. Ramocki, Jeffrey L. Neul, Wen Lu, Luz Roberts, John Knight, Christopher S. Ward, Huda Y. Zoghbi, Farrah Kheradmand, and David B. Corry. Overexpression of Methyl-CpG Binding Protein 2 Impairs TH1 Responses. Sci Transl Med, 5 December 2012 DOI: 10.1126/scitranslmed.3004430

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Into adulthood, sickle cell patients rely on ER

Dec. 10, 2012 — Patients with sickle cell disease rely more on the emergency room as they move from pediatric to adult health care, according to researchers at Washington University School of Medicine in St. Louis.

An analysis of Medicaid data of more than 3,200 patients with sickle cell disease shows that emergency room visits tripled from age 15 to age 24. The research is reported Dec. 10 at the American Society of Hematology's annual meeting, in Atlanta.

"There seems to be a breakdown in medical care during the transition from childhood to adulthood," says hematologist Morey A. Blinder, MD, associate professor of medicine. "Not only emergency department usage, but hospitalizations go up during this time as well."

One possible explanation for the increased reliance on emergency care, according to Blinder, is the relative lack of adult health care providers with experience caring for sickle cell patients. Similar issues are arising for other pediatric diseases, such as cystic fibrosis and hemophilia, which were previously fatal. Over the past few decades, an increasing number of children and teenagers are living into adulthood with these conditions and there often aren't enough primary care physicians who can provide care for these adult patients.

Sickle cell disease refers to a number of inherited genetic conditions that cause the normally round, disk-like red blood cells to take on a characteristic "sickle" shape. These malformed red blood cells do not carry oxygen to the body as well as healthy cells and are prone to clogging smaller blood vessels. The condition is often painful in places the cells block blood flow. Some of the more severe complications include blindness, strokes and pneumonia.

In the study, researchers examined data of 3,200 Medicaid patients with sickle cell disease from the mid 1990s through 2010. The researchers followed patients from five states (Florida, New Jersey, Missouri, Iowa and Kansas) for an average of six years each and included those moving from pediatric to adult care.

The study showed that emergency department visits tripled over nine years, increasing from 0.76 per quarter at age 15 to more than two per quarter at age 24. At age 36, use of emergency care peaked at almost three visits per quarter, or about one per month. Even by age 50, reliance on emergency care did not return to the lower levels seen in childhood.

More emergency care and hospitalizations also result in higher overall medical costs. Total health care costs were more than $7,000 higher per quarter for patients making heavier use of the emergency department, even as they tended to spend less on medication, perhaps simply failing to fill prescriptions.

Blinder says the St. Louis region and Missouri in general have good support for adults with sickle cell disease, though this is not always the case nationally.

"In areas without good adult support for this disease, you have to identify adult physicians who would be interested in treating sickle cell patients," Blinder says. "They could be hematologists or even internists, but in general there are not enough providers for adult sickle cell patients.

"This study highlights an emerging problem in transitioning pediatric age patients to adulthood, and the need to explore new ways to facilitate that process," Blinder says.

The study was funded by Novartis Pharmaceuticals. Blinder is a consultant for Novartis and receives some research support from the company. Several of the study's co-investigators are employed by Novartis.

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Holiday spices often abused for cheap highs, says toxicologist

Dec. 17, 2012 — Watch your kitchen cupboards this season as thrillseekers look to common holiday baking ingredients for a rise -- cinnamon, nutmeg and even marshmallows are the primary ingredient in trendy risky behavior. "The envelope is always being pushed to create something new that will get attention, potentially create a drug-like effect and can pass under the radar of law enforcers," says Christina Hantsch, MD, toxicologist, Department of Emergency Medicine at Loyola University Health System.

Loyola recently treated a dozen pre-teen children in its emergency room. "A group of 9-year-olds were trying to do the Cinnamon Challenge and got caught," says Hantsch, who is a former medical director of Illinois Poison Control. "One girl had seen the videos on the Internet and wanted to try it with her friends." The Cinnamon Challenge involves trying to swallow one tablespoon of ground cinnamon without water. "The dry, loose cinnamon triggers a violent coughing effect and also a burning sensation that actually can lead to breathing and choking hazards," she said. Hundreds of videos and postings on the Internet have made it a social media sensation.

In 2011, poison centers received 51 calls about teen exposure to cinnamon. In the first three months of 2012, poison centers received 139 calls. The American Association of Poison Control Centers reports that of those, 122 were classified as intentional misues or abuse and 30 callers required medial evaluation.

Hantsch is concerned that what was once horseplay by older teenagers is now being copied by young children. "They have easy access to ingredients like cinnamon and marshmallows and think it is cool to do what their older peers are doing," says Hantsch.

Another challenge that continues to attract followers is called Chubby Bunny. "You stuff as many marshmallows in your mouth as possible and then try to say the words Chubby Bunny," explained Hantsch. "Two children have actually choked to death attempting this game so it is not to be taken lightly." Ground nutmeg has been snorted, smoked and eaten in large quantities to produce a marijuana-like high. "Nutmeg contains myristicin which is a hallucinogenic, like LSD," says the toxicologist. Other common household products that are also being abused are hand sanitizer, aerosol whipped cream, aerosol cooking spray, ink markers and glue.

"There actually is a synthetic marijuana called Spice, or K2, that is very popular right now because it cannot be detected in standard drug tests," says Hantsch. "Spice is popular right now because it is marketed as a legal high, which it is not, but is dangerous because it has more adverse effects than cannabis." The poison centers received 4,905 calls about exposure to K2 or Spice between Jan. 1 -- Nov. 30, 2012.

Respiratory, cardiac and nerve damage have all been documented in relation to substance abuse by users. "Seemingly silly games can have sinister effects and the holidays are the worst time for this to happen," says Hantsch. "Kids have more free time, greater access to the Internet and more opportunities to get together during vacations. And at Christmas, the kitchen pantry is loaded for holiday baking. Adults are wise to keep an eye on their children to make sure they are using the ingredients for their proper use."

The Loyola Department of Emergency Medicine is classified as a Level 1 Trauma Center, providing the highest level of surgical care to trauma patients. The department also has been recognized by groups such as The Joint Commission, the Commission on Accreditation of Medical Transport Systems, the American College of Surgeons (one of only two-ACS-verified trauma centers in Illinois)and the Illinois Department of Public Health for Trauma, Burns, Pediatric and Emergency departments.

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Mistaking OCD for ADHD has serious consequences

Dec. 18, 2012 — On the surface, obsessive compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD) appear very similar, with impaired attention, memory, or behavioral control. But Prof. Reuven Dar of Tel Aviv University's School of Psychological Sciences argues that these two neuropsychological disorders have very different roots -- and there are enormous consequences if they are mistaken for each other.

Prof. Dar and fellow researcher Dr. Amitai Abramovitch, who completed his PhD under Prof. Dar's supervision, have determined that despite appearances, OCD and ACHD are far more different than alike. While groups of both OCD and ADHD patients were found to have difficulty controlling their abnormal impulses in a laboratory setting, only the ADHD group had significant problems with these impulses in the real world.

According to Prof. Dar, this shows that while OCD and ADHD may appear similar on a behavioral level, the mechanism behind the two disorders differs greatly. People with ADHD are impulsive risk-takers, rarely reflecting on the consequences of their actions. In contrast, people with OCD are all too concerned with consequences, causing hesitancy, difficulty in decision-making, and the tendency to over-control and over-plan.

Their findings, published in the Journal of Neuropsychology, draw a clear distinction between OCD and ADHD and provide more accurate guidelines for correct diagnosis. Confusing the two threatens successful patient care, warns Prof. Dar, noting that treatment plans for the two disorders can differ dramatically. Ritalin, a psychostimulant commonly prescribed to ADHD patients, can actually exacerbate OCD behaviors, for example. Prescribed to an OCD patient, it will only worsen symptoms.

Separating cause from effect

To determine the relationship between OCD and ADHD, the researchers studied three groups of subjects: 30 diagnosed with OCD, 30 diagnosed with ADHD, and 30 with no psychiatric diagnosis. All subjects were male with a mean age of 30. Comprehensive neuropsychological tests and questionnaires were used to study cognitive functions that control memory, attention, and problem-solving, as well as those that inhibit the arbitrary impulses that OCD and ADHD patients seem to have difficulty controlling.

As Prof. Dar and Dr. Abramovitch predicted, both the OCD and ADHD groups performed less than a comparison group in terms of memory, reaction time, attention and other cognitive tests. Both groups were also found to have abnormalities in their ability to inhibit or control impulses, but in very different ways. In real-world situations, the ADHD group had far more difficulty controlling their impulses, while the OCD group was better able to control these impulses than even the control group.

When people with OCD describe themselves as being impulsive, this is a subjective description and can mean that they haven't planned to the usual high degree, explains Prof. Dar.

Offering the right treatment

It's understandable why OCD symptoms can be mistaken for ADHD, Prof. Dar says. For example, a student in a classroom could be inattentive and restless, and assumed to have ADHD. In reality, the student could be distracted by obsessive thoughts or acting out compulsive behaviors that look like fidgeting.

"It's more likely that a young student will be diagnosed with ADHD instead of OCD because teachers see so many people with attention problems and not many with OCD. If you don't look carefully enough, you could make a mistake," cautions Prof. Dar. Currently, 5.2 million children in the US between the ages of 3 and 17 are diagnosed with ADHD, according to the Centers for Disease Control and Prevention, making it one of the most commonly diagnosed neuro-developmental disorders in children.

The correct diagnosis is crucial for the well-being and future trajectory of the patient, not just for the choice of medication, but also for psychological and behavioral treatment, and awareness and education for families and teachers.

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Amitai Abramovitch, Reuven Dar, Haggai Hermesh, Avraham Schweiger. Comparative neuropsychology of adult obsessive-compulsive disorder and attention deficit/hyperactivity disorder: Implications for a novel executive overload model of OCD. Journal of Neuropsychology, 2012; 6 (2): 161 DOI: 10.1111/j.1748-6653.2011.02021.x

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We're all living longer, but longevity increases not benefiting everybody

Dec. 14, 2012 — Global lifespans have risen dramatically in the past 40 years, but the increased life expectancy is not benefiting everybody equally, say University of Toronto researchers. In particular, adult males from low- and middle-income countries are losing ground.

People are living longer on average than they were in 1970, and those extra years of life are being achieved at lower cost, the researchers, led by U of T Chemical Engineering PhD candidate Ryan Hum, say in a paper published in the open access science journal eLife this month.

However, the costs for an extra year of life among adult males in lower-income countries are rising, Hum and his colleagues say, while the costs for an extra year of life among children worldwide and for adults in high-income countries continues to drop.

Hum, who is also a member of U of T's Centre for Global Engineering, co-wrote the paper with Professors Yu-Ling Cheng, director of the Centre, Prabhat Jha of the Dalla Lana School of Public Health and Anita McGahan of the Rotman School of Management.

The researchers made the discovery when they took the Michaelis-Menten (MM) equation - a well-known mathematical model first used to analyze enzyme kinetics in 1913 - and applied it to adult and child mortality at different incomes. They reasoned that just as chemical catalysts affect enzyme velocity; the public health catalysts react with income to affect life expectancy.

"We noticed the similarity in the curvature and became fascinated with the beauty of the analogy," said Hum. The MM equation is standard curriculum for biochemistry, biology and most chemical engineering undergraduate students and we knew there could be added knowledge that we could decipher purely from the math."

"Over the past few decades, research and development of new technologies (drugs, vaccines, policies) have focused mostly on childhood and infectious disease, with fewer worldwide investments for adult chronic diseases," the U of T researchers suggest. "Increasing coverage of inexpensive health interventions such as immunization, insecticide-treated nets, and case management of childhood infections could be contributing to decline in critical income for child survival."

Hum and his colleagues conclude by recommending that society invest in research and treatment of adult chronic disease, most notably the control of smoking and other risk factors for chronic diseases, and low-cost, widely useful treatments for these diseases.

In the paper, "Global divergence in critical income for adult and childhood survival: analyses of mortality using Michaelis-Menten," the authors expand on the analogy between enzymes and incomes: "Income directly enables certain technologies, immunization programs, epidemiological knowledge, education, and sanitation systems and other areas, which may themselves be interpreted as 'catalysts' - agents that accelerate the rate of a reaction without being fully consumed in the process," they write.

They came up with a new parameter, critical income, which they define as the level of income needed to achieve half of the maximal overall life expectancy found in high-income countries. For example, in 1970, the critical income for overall life expectancy (in inflation adjusted 2005 dollars) was $1.48 per day. By the year 2007, the critical income had fallen to $1.21 per day. In other words, a lower national income is needed to achieve a higher life expectancy now, compared to 40 years ago.

However, that good news is due mostly to improvements in children's health and to increased life expectancy in high-income countries, the researchers say. For adults (aged 15 to 59) in lower-income countries, critical income has actually risen since 1970. In other words, adults in low- and middle-income countries need to have higher incomes on average in order to add an extra year of life. Adult males in these countries are especially affected, though adult females also suffer.

"Under the current conditions, an approximate national income per capita of $2.20 per day would be required in 2007 to attain the same achievable adult male survival rate with $1.25 per day in 1970. Moreover, should the critical income costs for adults continue to rise (in line with current trends)," they warn.

Hum and his colleagues noted that increases in smoking, especially among adult males, and HIV prevalence are responsible for part of the life expectancy gap. By contrast, worldwide attention to childhood health including much research on new technologies, vaccines and political attention mean a rosier future for children - it's becoming less expensive to give children the chance for longer lives.

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Ryan J Hum, Prabhat Jha, Anita M McGahan, Yu-Ling Cheng. Global divergence in critical income for adult and childhood survival: analyses of mortality using Michaelis–Menten. eLife, 2012 [link]

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Fragile X protein linked to nearly 100 genes involved in autism

Dec. 12, 2012 — Doctors have known for many years that patients with fragile X syndrome, the most common form of inherited intellectual disability, are often also diagnosed with autism. But little has been known about how the two diagnoses are related.

Now a collaborative research effort at Duke University Medical Center and Rockefeller University has pinpointed the precise genetic footprint that links the two. The findings, published online in the journal Nature on Dec. 12, 2012, point the way toward new genetic testing that could more precisely diagnose and categorize the spectrum of autism-related disorders.

Fragile X syndrome is the most well understood single-gene cause of autism. It results from defects on a small part of the genetic code for a protein that researchers have dubbed the fragile X mental retardation protein, or FMRP.

Normally, FMRP plays an important role controlling production of other proteins in the brain and other organs. It does this by looking for specific genetic patterns located on the messages encoding proteins. When it locates these genetic flags, it attaches to them and, along with other signals, controls where and when protein is made.

In fragile X syndrome, this process breaks down because a defect in the gene causes the body to produce too little, or in some cases, none of the FMRP protein. As a result, additional proteins it would normally regulate are made in the wrong place and at the wrong time. Until now, little was known about how this process worked in people with the autism.

Using a combination of laboratory experiments and advanced bioinformatics, the research team, led by Thomas Tuschl, PhD, a Howard Hughes Medical Institute investigator at Rockefeller University, and Uwe Ohler, PhD, an associate professor in Biostatistics and Bioinformatics at the Duke Institute for Genome Sciences & Policy, identified both the genetic flags that FMRP is looking for and the genes it targets.

The researchers discovered that FMRP directly controls at least 93 genes that have been independently linked to autism, as well as Angelman, Prader-Willi, Rett and other neurologic syndromes that have overlapping features with autism.

Additional research using a mouse model of fragile X syndrome revealed that the animals had abnormal protein production not only in the brain, but also in the ovary. The findings confirmed that the absence of FMRP protein causes ovarian insufficiency, which is common among women affected by fragile x syndrome.

"We now know not only which genes are linked to FMRP, but we can locate exactly where they interact," said Ohler. "Down the road, this finding could lead to more detailed genetic tests that take into account the subtle ways that genes get turned on and off."

Physicians who work with fragile X patients know that each patient's abilities and challenges are unique. Some individuals have almost no disability, while others have more severe physical and intellectual disabilities. Approximately 2 percent to 6 percent of children with autism are also diagnosed with fragile X and about one-third of fragile X patients also meet the criteria for autism.

The new discovery should now enable researchers to examine the common molecular pathways leading to all forms of autism. Identification of those pathways could also lead to more targeted treatments for both fragile x and autism.

"We can now look for changes in the FMRP binding sites of genes to identify potential new genetic links to autism-spectrum disorders," said Neelanjan Mukherjee, a Duke post-doctoral scientist who contributed to the research.

In addition to Ohler, Mukherjee and Tuschl, study authors include Manuel Ascano Jr., Pradeep Bandaru, Jason B. Miller, Jeff Nusbaum, David L. Corcoran, Christine Langlois, Mathias Munschauer, Scott Dewell, Markus Hafner and Zev Williams.

The study was funded with grants from the National Institutes of Health (UL1RR024143, R01MH080442), the Howard Hughes Medical Institute, Simons Foundation Autism Research Initiative, and the National Science Foundation. The research team recently received an NIH transformative research award (R01GM104962) that will enable the team to continue its investigation.

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Manuel Ascano, Neelanjan Mukherjee, Pradeep Bandaru, Jason B. Miller, Jeffrey D. Nusbaum, David L. Corcoran, Christine Langlois, Mathias Munschauer, Scott Dewell, Markus Hafner, Zev Williams, Uwe Ohler, Thomas Tuschl. FMRP targets distinct mRNA sequence elements to regulate protein expression. Nature, 2012; DOI: 10.1038/nature11737

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High short-term risk of attempted suicide in teenagers following parents' suicide attempt

Dec. 12, 2012 — The risk that young people attempt to commit suicide is highest within two years after a parent has received inpatient care due to a mental disorder or suicide attempt, according to a study of over 15,000 teenagers and young adults. The risk is much higher for teenagers than for young adults.

This is reported by a collaborative study between Karolinska Institutet in Sweden and Copenhagen University in Denmark, which is published in the online journal PLOS ONE.

Although the incidence of suicide has decreased in Sweden in recent years, there has been a sharp increase in the number of attempted suicides by young adults in Sweden and other European countries. It has long been known that mental illness and suicidal behaviour in parents is a risk factor for attempted suicide in their children.

The present study looked at the temporal relationship between the inpatient care due to mental disorders and suicide attempt, suicide and death in parents and the risk of attempted suicide in their children with respect to the children's age at the time of the attempted suicide, knowledge of which has hitherto been limited. The study found that young people ran the highest risk of attempted suicide relatively soon (within two years) after a parent, particularly the mother, had done the same. Daughters in particular also ran a high risk of attempted suicide relatively soon after the mother's admission to a psychiatric hospital. The risk of attempted suicide related to such a parental event was greatest amongst teenagers of both sexes, and then declined with age.

The study included a total of 15,193 teenagers and young adults born between 1973 and 1983 who tried to take their own lives between the ages of 15 and 31. These people were compared with peers of the same sex and born in the same area who had not tried to commit suicide.

"We show that young people, particularly teenagers, need support during a period immediately following the admission of a parent into care for mental disorders or suicidal behaviour if their own attempted suicide is to be prevented," says principal investigator Dr Ellenor Mittendorfer-Rutz, researcher at Karolinska Institutet's Department of Clinical Neuroscience. "What's required, therefore, is effective cooperation between all actors, particularly the adult and child-and adolescent psychiatric services."

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Ellenor Mittendorfer-Rutz, Finn Rasmussen, Theis Lange. A Life-Course Study on Effects of Parental Markers of Morbidity and Mortality on Offspring’s Suicide Attempt. PLoS ONE, 2012; 7 (12): e51585 DOI: 10.1371/journal.pone.0051585

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Children born after infertility treatment are more likely to suffer from asthma

Dec. 4, 2012 — Asthma is more common among children born after infertility treatment than among children who have been planned and conceived naturally, according to findings from the UK Millennium Cohort Study published online December 6  in the reproductive medicine journal Human Reproduction.

The study found that at the age of five, children born to sub-fertile parents -- those who had either had to wait longer than a year before managing to conceive or who conceived via some form of assisted reproduction technology (ART) -- were significantly more likely to experience asthma, wheezing and to be taking anti-asthmatic medication. The association was driven mainly by children born after in vitro fertilisation (IVF) or intracytoplasmic sperm injection (ICSI); these children were two to four times more likely to have asthma, wheezing or be taking anti-asthmatics.

However, the researchers, based at the universities of Oxford and Essex (UK), say that their findings should not worry parents of ART children. Dr Claire Carson, a researcher at the National Perinatal Epidemiology Unit at the University of Oxford (UK), said: "Although the children born after ART were more likely to be diagnosed and treated for asthma than other children, it is important to remember that in absolute terms the difference is quite small. Fifteen percent of the children in our study had asthma at the age of five. Although this figure was higher, 24%, in the IVF children, it isn't much higher than the one in five risk for all children in the UK."

She added: "Although we found an association, we cannot tell at this time if it is causal. Further research is needed to establish what might be causing the association and the underlying mechanism involved. It is also important to remember that for most children, asthma is a manageable condition and shouldn't prevent children from living a full and active life."

The UK Millennium Cohort Study is following prospectively 18,818 children from across the UK who were born between 2000-2002. It is one of the few large observational studies where data are available on conception, asthma diagnosis and key confounding factors. These new results are analyses of data from surveys of the children at age five and seven, who were born as a result of a singleton pregnancy.

The researchers asked mothers about conception and divided them into six groups: 1) unplanned and unhappy about pregnancy, 2) unplanned but happy about pregnancy, 3) planned with time to conception less than a year, 4) untreated sub-fertile, planned but time to conception of more than a year, 5) sub-fertile, where the pregnancy was planned and ovulation-inducing drugs were used, 6) sub-fertile, planned and treated using ART such as IVF or ICSI. Once the children had reached the ages of five and seven, the researchers asked whether the children had ever had asthma, wheezing or were taking medications for treating asthma. The researchers also took into account mothers' history of asthma, smoking, BMI, socioeconomic status, furry pets in household, gestational age at delivery, type of delivery, breast feeding etc.

Of the 18,818 children in the cohort, full data were available on 13,041 at the age of five and 11,585 at the age of seven. Among the five-year-olds, 104 were born after ART.

Compared with planned children, those born to sub-fertile parents were 39% more likely to experience asthma, 27% more likely to wheeze, and nearly twice as likely (90%) to be taking anti-asthmatic medications at the age of five. This association was mainly related to an increase among children born after ART who had a more than two-and-a-half-fold increased risk of asthma, nearly two-fold increased risk of wheezing and more than four-fold increased risk of taking anti-asthmatic medications. Similar but reduced associations were also present at the age of seven.

The researchers say there could be a number of possible explanations for the association between infertility and asthma. These include: the severity of the infertility; infertility treatment; over-reporting of asthmatic symptoms by excessively protective ART parents (but the researchers think this is unlikely); or other, confounding factors that may not have been taken account of.

Dr Carson said: "Childhood asthma is a common condition in the UK where the prevalence of the condition is higher than other European countries, and (to our knowledge) this is the first UK study of asthma after IVF conceptions. Our analysis suggests that it is the ART group in particular who are at higher risk. However, we do need to be reasonably cautious when interpreting the results because there is a relatively small number of IVF cases in our study -- just 104 babies."

The researchers, led by Ms Maria Quigley, Reader in Epidemiology at the National Perinatal Epidemiology Unit, will continue to follow the children to see if the same effect can be seen at the age of 11, and they say more research needs to be conducted in larger groups of ART children to see if their findings can be replicated.

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The above story is reprinted from materials provided by European Society of Human Reproduction and Embryology (ESHRE).

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Journal Reference:

C. Carson, A. Sacker, Y. Kelly, M. Redshaw, J. J. Kurinczuk, M. A. Quigley. Asthma in children born after infertility treatment: findings from the UK Millennium Cohort Study. Human Reproduction, 2012; DOI: 10.1093/humrep/des398

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Adult antiviral drug effective in suppressing hepatitis B in teens

Dec. 5, 2012 — A recent clinical trial found that the adult antiviral drug, tenofovir disoproxil fumarate (tenofovir DF), is safe and effective in treating adolescents with hepatitis B virus (HBV). Trial results published in the December issue of Hepatology, a journal of the American Association for the Study of Liver Diseases (AASLD), show that tenofovir DF suppressed HBV in 89% of pediatric participants.

Chronic HBV is a major health burden that studies estimate affects 350 million people worldwide, with 600,000 deaths attributed to this chronic disease. The Centers for Disease Control and Prevention (CDC) estimate that more than one million Americans have chronic HBV, with most patients infected during childhood. Medical evidence suggests that 90% of patients infected as infants, and up to 50% infected between one and four years of age develop chronic HBV; 25% of adults who become chronically infected in childhood develop cirrhosis or liver cancer.

"Children chronically infected with HBV are at great risk of developing severe liver disease and possible death due to complications from the disease," said Dr. Karen Murray, Chief of the Division of Gastroenterology and Hepatology at Seattle Children's Hospital in Washington and lead researcher of the clinical trial. "Tenofovir DF is highly effective in treating adults with chronic HBV and our trial evaluated safety and efficacy of the drug in adolescents."

This double-blind, placebo-controlled trial was conducted in 101 adolescents aged 12 to 17 years. Participants were randomized with 52 receiving a daily 300 mg dose of tenofovir DF and 54 taking a placebo for 72 weeks. A virologic response -- ability of the antiviral medication to suppress the virus in participants -- was the main outcome of this clinical trial. At the onset of the trial 91% of participants tested positive for the hepatitis B e-antigen and 85% received prior HBV therapy.

Researchers observed a virologic response in 89% of participants who received tenofovir DF, while none of the patients in the placebo group achieved HBV suppression. The drug successfully suppressed HBV and normalized alanine aminotransferase (ALT) levels in both adolescents who received no prior treatment and in those previously exposed to HBV therapy. No safety issues, such as a 6% reduction in spine bone density (safety end point), were reported. Trial participants taking tenofovir showed no resistance to the drug.

"Tenofovir DF therapy was well tolerated and effective in suppressing HBV in adolescents," concludes Dr. Murray. "Our trial demonstrates that tenofovir is a beneficial therapy for managing chronic HBV in teens." The authors note that a two-year open-label phase study will further investigate the sustained response and safety of tenofovir DF.

In an editorial also published in Hepatology, Dr. Philip Rosenthal with the University of California, San Francisco (UCSF) questions what can be done to alter the development of liver disease and liver cancer in children with chronic hepatitis B infection. "It was not long ago that drugs to treat HBV were limited and it is gratifying to see an increase in medications to combat this disease being approved for use in children and teens," said Dr. Rosenthal. "While the study by Murray et al. was limited to adolescents, future study of tenofovir DF in younger children is underway."

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Karen F. Murray, Leszek Szenborn, Jacek Wysocki, Stephen Rossi, Amoreena C. Corsa, Phillip Dinh, John McHutchison, Phillip S. Pang, Luminita M. Luminos, Malgorzata Pawlowska, Jacek Mizerski. Randomized, placebo-controlled trial of tenofovir disoproxil fumarate in adolescents with chronic hepatitis B. Hepatology, 2012; DOI: 10.1002/hep.25818

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Engineered immune cells produce complete response in child with an aggressive leukemia

Dec. 9, 2012 — By reprogramming a 7-year-old girl's own immune cells to attack an aggressive form of childhood leukemia, a pediatric oncologist has achieved a complete response in his patient, who faced grim prospects when she relapsed after conventional treatment. The innovative experimental therapy used bioengineered T cells, custom-designed to multiply rapidly in the patient, and then destroy leukemia cells. After the treatment, the child's doctors found that she had no evidence of cancer.

Pediatric oncologist Stephan A. Grupp, M.D., Ph.D., of The Children's Hospital of Philadelphia, and colleagues from the University of Pennsylvania presented updated results of the clinical trial involving these engineered cells at the American Society of Hematology (ASH) annual meeting December 10 in Atlanta. Grupp is the director of Translational Research for the Center for Childhood Cancer Research at The Children's Hospital of Philadelphia, and a professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania.

Grupp's research builds on his ongoing collaboration with Penn scientists who originally developed the modified T cells as a treatment for B-cell leukemias. The Penn team reported on early results of a trial using this cell therapy in adult chronic lymphocytic leukemia (CLL) patients in August of 2011. Carl H. June, M.D., of the Perelman School of Medicine at the University of Pennsylvania, leads this research group, which along with Grupp's work, is presenting new data at the ASH meeting showing that nine of 12 patients with advanced leukemias in the clinical trial, including two children, responded to treatment with CTL019 cells.

One of the nine responding patients is the 7-year-old with acute lymphoblastic leukemia (ALL). Grupp and Penn colleagues adapted the treatment to combat ALL, the most common childhood leukemia, and also the most common childhood cancer. Although physicians can cure roughly 85 percent of ALL cases, the remaining 15 percent of such cases stubbornly resist treatment.

The CTL019 therapy, formerly called CART19, represents a new approach in cancer treatment. T cells are the workhorses of the immune system, recognizing and attacking invading disease cells. However, cancer cells fly under the radar of immune surveillance, evading detection by T cells. CAR T cells (chimeric antigen receptor T cells) are engineered to specifically target B cells, which become cancerous in certain leukemias, such as ALL and CLL, as well as types of lymphoma, another cancer of the immune cells.

CD19 is a protein found only on the surface of B cells. By creating an antibody that recognizes CD19, and physically connecting that antibody to T cells, the researchers have created a guided missile that locks in on and kills B cells, thereby attacking B-cell leukemia.

In using the CTL019 treatment in his pediatric patient, Grupp found that the very activity that destroyed leukemia cells also stimulated a highly activated immune response called a cytokine release syndrome. The child became very ill and had to be admitted to the intensive care unit.

Grupp and his team decided to counteract these toxic side effects by using 2 immunomodulating drugs that blunted the overactive immune response and rapidly relieved the child's treatment-related symptoms. These results were effective enough that this approach is now being successfully incorporated into CTL019 treatments for adults as well.

The immunomodulating drugs did not interfere with the CTL019 therapy's anti-leukemia benefits, which have persisted 6 months after the infusion of cell therapy. This persistence is essential, because the engineered T cells remain in the patient's body to protect against a recurrence of the cancer.

"These engineered T cells have proven to be active in B cell leukemia in adults," said Grupp. "We are excited to see that the CTL019 approach may be effective in untreatable cases of pediatric ALL as well. Our hope is that these results will lead to widely available treatments for high-risk B cell leukemia and lymphoma, and perhaps other cancers in the future."

"This type of pioneering research addresses the importance of timing when considering experimental therapies for relapsed patients," added Susan R. Rheingold, M.D., one of the leaders in the Children's Hospital program for children with relapsed leukemia. "To ensure newly relapsed patients with refractory leukemia meet criteria for options like CTL019, we must begin exploring these innovative approaches earlier than ever before. Having the conversation with families earlier provides them more treatment options to offer the best possible outcome."

In August 2012, Novartis acquired exclusive rights from Penn to CART-19, the therapy that was the subject of this clinical trial and which is now known as CTL019.

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Experts warn of misbehaving tooth fairy

Dec. 13, 2012 — Opinions of the tooth fairy as kind and giving may need to be revised following "mounting reports of less child-friendly activity," says a paper published in the BMJ Christmas edition and appearing online today.

Researchers from across London became concerned following misdemeanours of the mythical character and a worrying trend in malpractice. One boy in particular became extremely distressed because the tooth fairy "had put a tooth in his left ear" after he left it under his pillow. Further investigation turned out he was right.

Further supporting their evidence are another two cases showing teeth being found in the esophagus (causing "a trauma situation") and a man who developed an abscess after placing his child's tooth in his nipple piercing so it could be "near to his heart."

The researchers conclude that as there is no clear guidance on how to avoid such complications, they suggest that clinicians have a "high index of suspicion with tooth related presenting complaints."

They add: "As far as we are aware there is no revalidation procedure for the tooth fairy and no clear guidance or standard operating procedures in place to ensure outcomes are avoided."

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S. Ludman, H. Daya, P. S. Richards, A. Fox. The tooth fairy and malpractice. BMJ, 2012; 345 (dec13 8): e3027 DOI: 10.1136/bmj.e3027

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