Sunday, January 29, 2012

Brain Receptor in Eyes May Link Epilepsy, Cataracts and Antidepressants

Researchers from the University of Medicine and Dentistry of New Jersey (UMDNJ) and Columbia University have discovered that the most common receptor for the major neurotransmitter in the brain is also present in the lens of the eye, a finding that may help explain links between cataracts, epilepsy and use of a number of widely prescribed antiepileptic and antidepressant drugs. The research appears online in Biochemical and Biophysical Research Communications.

"Recent studies identified associations between increased cataracts and epilepsy, and showed increased cataract prevalence with use of antiepileptic drugs as well as some common antidepressants," explained corresponding author Peter Frederikse, PhD, of the UMDNJ-New Jersey Medical School. "One common theme linking these observations is that our research showed the most prevalent receptor for the major neurotransmitter in the brain is also present in the lens."

The research team, which included Norman Kleiman, PhD, of the Mailman School of Public Health at Columbia University, with Mohammed Farooq of the New Jersey Medical School and Rajesh Kaswala, DDS, and Chinnaswamy Kasinathan, PhD, from the New Jersey Dental School, found these glutamate receptor proteins, and specifically a pivotal GluA2 subunit, are expressed in the lens and appear to be regulated in a surprisingly similar manner to the way they are in the brain. In the nervous system, glutamate and GluA receptor proteins underlie memory formation and mood regulation along with being an important factor in epilepsy, considered a primary disorder of the brain. Consistent with this, these receptor proteins are also targets for a number of antiepileptic drugs and antidepressant medications.

"The presence of these glutamate receptors in the lens suggests they contribute to links between brain disease and cataract, as well as providing unintended secondary 'targets' of current drugs," Frederikse said. "Our goal now is to use this information to parse out the potential effects of antiepileptics and antidepressants on these 'off-target' sites in the lens, and to determine the role glutamate receptors have in lens biology and pathology."

This research was supported by a grant from the National Eye Institute of the National Institutes of Health.

Read more:

In the Brain, Signs of Autism as Early as 6 Months Old

Measuring brain activity in infants as young as six months may help to predict the future development of autism symptoms.

Research conducted at the Centre for Brain and Cognitive Development, Birkbeck, University of London, and published in the January edition of Current Biology,shows that in their first year of life, babies who will go on to develop autism already show different brain responses when someone looks at them or away.

"The study is only a first step toward earlier diagnosis, but our findings demonstrate for the first time that direct measures of brain functioning during the first year of life associate with a later diagnosis of autism -- well before the emergence of behavioural symptoms," said Professor Mark Johnson, MRC scientist and head of the Centre for Brain and Cognitive Development at Birkbeck.

The behaviours characteristic of autism emerge over the first few years of life and firm diagnoses are currently made in children only after the age of two. Professor Johnson's team looked to six- to ten-month-old babies at greater risk of developing autism because they had an older brother or sister with the condition. They placed passive sensors on the scalp to register brain activity while the babies viewed faces that switched from looking at them to looking away from them or vice versa.

The human brain shows characteristic patterns of activity in response to eye contact with another person, and that response is a critical foundation for face-to-face social interactions. Older children diagnosed with autism show unusual patterns of eye contact and of brain responses to social interactions that involve eye contact.

The new studies reveal that the brains of infants who will go on to develop autism already process social information in a different way. "At this age, no behavioural markers of autism are yet evident, and so measurements of brain function may be a more sensitive indicator of risk," Professor Johnson said.

However, in the study some babies who showed these differences in brain function were not later diagnosed and vice versa. The method will need refining, most likely in combination with other factors, if it is to form the basis of a predictor accurate enough for clinical use in the general population.

Read more:

Hockey helmet adds anti-concussion liner

A sports equipment maker is trying to reduce head injuries with a new type of helmet.

Bauer Hockey unveiled its Re-akt helmet in Ottawa on Friday, calling it the first designed specifically to manage multiple hits, including rotational-force impacts from turning the head, which can cause significant head injuries such as concussion.

"There are several scientific studies that have shown a significant correlation between rotational force impacts and head injuries, and it is important to look at solutions to help protect players from these impacts," Dr. Mark Lovell, the retired founding director of the University of Pittsburgh Medical Center's sports medicine concussion program, said in a company news release.

The helmet features a special liner that is meant to protect the head from excessive rotational acceleration when the helmet is hit. The liner is made with a light, pliable material that dissipates extreme forces on impact, Bauer said.

Claude Giroux of the Philadelphia Flyers was one of the first players to wear the new helmet leading up to this weekend's all-star game in Ottawa.

"No helmet is going to completely prevent concussions, but helmets like this one are providing an added level of protection, which is important in today's game," said Giroux, who missed four games due to a concussion earlier this season.

"It comes down to player accountability," Steven Stamkos of the Tampa Bay Lightning told reporters. "We can wear all the new equipment that you want but you have to be aware of situations on the ice."

When the Public Health Agency of Canada launched its "Active and Safe" educational program to reduce concussions and other brain injuries among children and youth last week, safety experts stressed that helmets can't protect against all injuries.

Read more:

Study links sleep apnea and sudden deafness

Sudden hearing loss might be tied to an underlying sleep disorder that interrupts breathing, suggests a new study from Taiwan.

Consulting a large health insurance database, researchers found that people who'd suffered sudden deafness were more likely to have a previous diagnosis of sleep apnea than a comparison group without hearing loss.

The absolute difference was small: 1.7 percent of those with hearing loss had sleep apnea, compared to 1.2 percent without hearing trouble.

"If there is sudden hearing loss, I would investigate the presence of apnea as well, given that it's easy to diagnose and it's easy to treat," said Dr. Seva Polotsky, a sleep apnea researcher from Johns Hopkins University School of Medicine in Baltimore who wasn't involved in the new study.

"Obviously we don't know from this paper whether treating apnea will reduce hearing loss," or the chance of having hearing problems in the first place.

For now, he said, "There are more questions than answers."

Polotsky added, it's possible that sleep apnea, which is known to increase the buildup of plaque in blood vessels, could affect vessels in areas of the brain that control hearing, or vessels that feed the nerves responsible for hearing.

But he said more research will be needed to find out what could be behind this link -- or whether something besides the apnea, itself, might explain an increased risk of deafness.

There are about 4,000 new cases of sudden deafness each year in the United States, according to the National Institutes of Health, and there are many possible causes, including infections and head injuries.

Typically the deafness only occurs in one ear, and most people regain their hearing over a period of weeks, sometimes aided by steroid treatment. But occasionally the hearing loss becomes more serious.

Looking at health records of one million Taiwanese, researchers led by Dr. Jau-Jiuan Sheu, of Taipei Medical University Hospital, found almost 3,200 had been diagnosed with sudden deafness between 2000 and 2008. For each of those people, they picked out another five of the same age and sex without hearing loss to serve as a comparison.

Out of those 19,000 people in total, 240 had been diagnosed with sleep apnea before the episode of sudden deafness occurred.

When researchers took into account health and lifestyle factors that may be related to both sleep problems and hearing loss -- such as obesity and heart disease -- they found that men with sudden deafness were 48 percent more likely to have a previous sleep apnea diagnosis than men without hearing loss.

The association for women was less clear, the researchers reported in the Archives of Otolaryngology-Head & Neck Surgery.

Sleep apnea is characterized by closing off of the airways during sleep, leading to repeated drops in oxygen levels in the blood and frequent short wake-ups, along with snoring. It's often treated with a mask and breathing device, called continuous positive airway pressure, or CPAP, but one of the most effective treatments is weight loss.

The new study doesn't prove that sleep apnea causes sudden hearing loss. The researchers couldn't account for people's smoking and drinking, for example, which may affect the risk of both conditions.

Read more:

Cancer Sequencing Initiative Discovers Mutations Tied to Aggressive Childhood Brain Tumors

St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project provides first evidence linking cancer to mutations in genes involved in DNA organization

Researchers studying a rare, lethal childhood tumor of the brainstem discovered that nearly 80 percent of the tumors have mutations in genes not previously tied to cancer. Early evidence suggests the alterations play a unique role in other aggressive pediatric brain tumors as well.

The findings from the St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project (PCGP) offer important insight into a poorly understood tumor that kills more than 90 percent of patients within two years. The tumor, diffuse intrinsic pontine glioma (DIPG), is found almost exclusively in children and accounts for 10 to 15 percent of pediatric tumors of the brain and central nervous system.

"We are hopeful that identifying these mutations will lead us to new selective therapeutic targets, which are particularly important since this tumor cannot be treated surgically and still lacks effective therapies," said Suzanne Baker, Ph.D., co-leader of the St. Jude Neurobiology and Brain Tumor Program and a member of the St. Jude Department of Developmental Neurobiology. She is a corresponding author of the study published in the January 29 online edition of the scientific journal Nature Genetics.

DIPG is an extremely invasive tumor that occurs in the brainstem, which is at the base of the skull and controls such vital functions as breathing and heart rate. DIPG cannot be cured by surgery and is accurately diagnosed by non-invasive imaging. As a result, DIPG is rarely biopsied in the U.S. and little is known about it.

Cancer occurs when normal gene activity is disrupted, allowing for the unchecked cell growth and spread that makes cancer so lethal. In this study, investigators found 78 percent of the DIPG tumors had alterations in one of two genes that carry instructions for making proteins that play similar roles in packaging DNA inside cells. Both belong to the histone H3 family of proteins. DNA must be wrapped around histones so that it is compact enough to fit into the nucleus. The packaging of DNA by histones influences which genes are switched on or off, as well as the repair of mutations in DNA and the stability of DNA. Disruption of any of these processes can contribute to cancer.

Researchers said that the mutations seem unique to aggressive childhood brain tumors.

"It is amazing to see that this particular tumor type appears to be characterized by a molecular 'smoking gun' and that these mutations are unique to fast-growing pediatric cancers in the brain," said Richard K. Wilson, Ph.D., director of The Genome Institute at Washington University School of Medicine in St. Louis and one of the study's corresponding authors. "This is exactly the type of result one hopes to find when studying the genomes of cancer patients."

The results are the latest from the PCGP, an ambitious three-year effort to sequence the complete normal and cancer genomes of 600 children with some of the most poorly understood and aggressive pediatric cancers. The human genome includes the complete set of instructions needed to assemble and sustain human life. The goal is to identify differences that explain why cancer develops, spreads and kills. Researchers believe the findings will provide the foundation for new tools to diagnose, treat or prevent the disease.

For this study, researchers sequenced the complete normal and cancer genomes of seven patients with DIPG. "The mutations were found at such high frequency in the cancer genomes of those seven patients that we immediately checked for the same alterations in a larger group of DIPGs," Baker said. When researchers sequenced all 16 of the related genes that make closely related variants of histone H3 proteins in an additional 43 DIPGs, they found many of the tumors contained the same mistakes in only two of these genes.

Of the 50 DIPG tumors included in this study, 60 percent had a single alteration in the makeup of the H3F3A gene. When the mutated gene was translated into a protein, the point mutation led to the substitution of methionine for lysine as the 27th amino acid in this variant of histone H3 protein. Another 18 percent of the DIPG patients carried the same mistake in a different gene, HIST1H3B.

Researchers are now working to understand how mutations in H3F3A and HIST1H3B impact cell function and contribute to cancer. Earlier research provides some clues. The lysine that is mutated is normally targeted by enzymes that attach other molecules to histone H3, influencing how it interacts with other proteins that regulate gene expression, Baker said. Mutations in the enzymes that target histone H3 have been identified in other cancers, but this is the first report showing a specific alteration of histones in cancer.

Read more:

Brain-Derived Neurotrophic Factor: Finding May Have Implications for Rett Syndrome, Other Neurological Disorders

Brain-Derived Neurotrophic Factor: Finding May Have Implications for Rett Syndrome, Other Neurological Disorders 
ScienceDaily (Jan. 27, 2012) — Researchers at Oregon Health & Science University have discovered that a molecule critical to the development and plasticity of nerve cells -- brain-derived neurotrophic factor (BDNF) -- is severely lacking in brainstem neurons in mutations leading to Rett syndrome, a neurological developmental disorder. The finding has implications for the treatment of neurological disorders, including Rett syndrome that affects one in 10,000 baby girls.

The new discovery is published online in Neuroscience and is expected in the print issue of Neuroscience in March.
Using a mouse model of Rett syndrome, the OHSU team found that mutant neurons in the brainstem fail miserably at making BDNF. When normal neurons are faced with a respiratory challenge, such as low oxygen, they dramatically increase the production of BDNF, whereas mutant neurons do not.
According to the National Institutes of Health, Rett syndrome is estimated to affect one in every 10,000 to 15,000 live births and almost exclusively girls because it is caused by an X-linked gene mutation. In addition to severe problems with motor function, other symptoms of Rett syndrome may include breathing difficulties while awake.
"The new finding, coupled with our previously published data that show BDNF is involved in normal maturation of neuronal pathways controlling cardiorespiratory function, could play a significant role in the development of a treatment for Rett syndrome," said Agnieszka Balkowiec, M.D., Ph.D., principal investigator and associate professor of integrative biosciences in the OHSU School of Dentistry; and adjunct assistant professor of physiology and pharmacology in the OHSU School of Medicine. To conduct this research, Balkowiec partnered with John M. Bissonnette, M.D., professor of obstetrics and gynecology, and cell and developmental biology in the OHSU School of Medicine.

Additional study authors include: Anke Vermehren-Schmaedick, Ph.D., OHSU Department of Biomedical Engineering; Victoria K. Jenkins, B.A., who is currently pursuing her doctorate at Boston University; and Sharon J. Knopp, a research assistant in Bissonnette's lab.
The study was supported by grants from the National Heart, Lung, and Blood Institute of the National Institutes of Health; March of Dimes; and International Rett Syndrome Foundation.

Trisomy 18 - What Is Trisomy 18?

With Rick and Karen Santorum's daughter hospitalized, I have had questions about trisomy 18. I hope Bella returns to health and gets home soon. JR

What Is Trisomy 18?

Trisomy 18, also known as Edwards syndrome, is a condition which is caused by a chromosomal defect. It occurs in about 1 out of every 3000 live births.  The numbers increase significantly when early pregnancy losses are factored in that occur in the 2nd and 3rd trimesters of pregnancy. 

Unlike Down syndrome, which also is caused by a chromosomal defect, the developmental issues caused by Trisomy 18 are associated with medical complications that are more potentially life-threatening in the early months and years of life. 50% of babies who are carried to term will be stillborn, with baby boys having higher stillbirth rate than baby girls.

At birth, intensive care admissions in Neonatal units are most common for infants with Trisomy 18. Again, baby boys will experience higher mortality rates in this neonatal period than baby girls, although those with higher birth weights do better across all categories.

Some children will be able to be discharged from the hospital with home nursing support for their families. And although less than 10 percent survive to their first birthdays, some children with Trisomy 18 can enjoy many years of life with their families, reaching milestones and being involved with their community.  A small number of adults (usually girls) with Trisomy 18 have and are living into their twenties and thirties, although with significant developmental delays that do not allow them to live independently without assisted caregiving.

Seizures in Children - What are Causes? Seizure Tests? What are Seizure Treatments? Who are Epilepsy Specialists?

Illustration of seizure.

Seizures in Children - Causes, Tests, Treatments, What next?

Dont wait. Read this and seek care!

Seizures in Children Overview

seizure occurs when the brain functions abnormally, resulting in a change in movement, attention, or level of awareness. Different types of seizures may occur in different parts of the brain and may be localized (affect only a part of the body) or widespread (affect the whole body). Seizures may occur for many reasons, especially in children. Seizures in newborns may be very different than seizures in toddlers, school-aged children, and adolescents. Seizures, especially in a child who has never had one, can be frightening to the parent or caregiver.
  • Around 3% of all children have a seizure when younger than 15 years, half of which are febrile seizures (seizure brought on by a fever). One of every 100 childrenhas epilepsy-recurring seizures.
  • febrile seizure occurs when a child contracts an illness such as an earinfectioncold, or chickenpox accompanied by fever.Febrile seizuresare the most common type of seizure seen in children. Two to five percent of children have a febrile seizure at some point during their childhood. Why some children have seizures with fevers is notknown, but several risk factors have been identified.

    • Children with relatives, especially brothers and sisters, who have had febrile seizures are more likely to have a similar episode.
    • Children who are developmentally delayed or who have spent more than 28 days in a neonatal intensive care unit are also more likely to have a febrile seizure.
    • One of 4 children who have a febrile seizure will have another, usually within a year.
    • Children who have had a febrile seizure in the past are also more likely tohave a second episode.
  • Neonatal seizures occur within 28 days of birth. Mostoccur soon after the child is born. They may be due to a large variety of conditions. It may be difficult to determine if a newborn is actually seizing, because they often do not have convulsions. Instead, their eyes appear to be looking in different directions. They may have lip smacking or periods of no breathing.
  • Partial seizures involve only a part of the brain and therefore only a part of the body.

    • Simple partial (Jacksonian) seizures have a motor (movement) component that is located in one portion of the body. Children with these seizures remain awake and alert. Movement abnormalities can "march" to other parts of the body as the seizure progresses.
    • Complex partial seizures are similar, except that the child is not aware of what is going on. Frequently, children with this type of seizurerepeat an activity, such as clapping, throughout the seizure. Theyhave no memory of this activity. After the seizure ends, the childis oftendisoriented in a state known as the postictal period.
  • Generalized seizures involve a much larger portion of the brain. They are grouped into 2 types: convulsive (muscle jerking) and nonconvulsive with several subgroups.

    • Convulsive seizures are noted by uncontrollable muscle jerking lasting for a few minutes-usually less than 5-followed by a period of drowsiness that is called the postictal period. The child should return to his or her normal self except for fatigue within around 15 minutes. Often the child may have incontinence (lose urine or stool), and it is normal for the child not to remember the seizure. Sometimes the jerking can cause injury, which may range from a small bite on the tongue to a broken bone.
    • Tonic seizures result in continuous muscle contraction and rigidity, while tonic-clonic seizures involve alternating tonic activity with rhythmic jerking of muscle groups.
    • Infantile spasms commonly occur in children younger than 18 months. They are often associated with mental retardation and consist of sudden spasms of muscle groups, causing the child to assume a flexed stature. They are frequent upon awakening.
    • Absence seizures, also known as petit mal seizures, are short episodes during which the child stares or eye blinks, with no apparent awareness of their surroundings. These episodes usually do not last longer then a few seconds and start and stop abruptly; however, the childdoes not remember the event at all. These are sometimes discovered after the child's teacher reports daydreaming, if the child loses his or her place while reading or misses instructions for assignments.
  • Status epilepticus is either a seizure lasting longer than 30 minutes or repeated seizures without a return to normal in between them. It is most common in children younger than 2 years, and most of these childrenhave generalized tonic-clonic seizures. Status epilepticus is very serious. With any suspicion of a long seizure, you should call 911.
  • Epilepsy refers to a pattern of chronic seizures of any type over a long period. Thirty percent of children diagnosed with epilepsycontinue to have repeated seizures into adulthood, while othersimprove over time.

Full article here

‘Big Hits, Broken Dreams’ Examines Concussion Hazards in Youth Football

‘Big Hits, Broken Dreams’ Examines Concussion Hazards in Youth Football

‘Dr. Sanjay Gupta Reports’ documentary debuts Sunday, January 29, 8:00pm ET
Football is a cornerstone of family life in Greenville, NC, and four-time statewide football champion JH Rose High School is one reason why. But the costs for all of that football glory can be very high. The hard hits can mean concussion injuries and the community has borne terrible consequences.
In summer 2008, JH Rose junior and star running back, Jaquan Waller, died as a result of repeated concussion injuries. Weeks earlier, neighboring RJ Reynolds High School sophomore Matthew Gfeller had died from concussion injury. In 2010, JH Rose head coach Todd Lipe had to permanently sideline the varsity quarterback, AJ Flores, after he sustained his fourth football-related concussion. In 2011, JH Rose starting linebacker Gray Dixon was one of nearly a dozen players to sit out part of the season with a serious concussion.
In a new, one-hour documentary, CNN chief medical correspondent and practicing neurosurgeon Dr. Sanjay Gupta had exclusive access to follow the JH Rose team for their full 2011 season, exploring concussion in high school football – what happens to the brain under concussive brain injury, and what parents, coaches, and athletes need to be aware of to try to protect themselves. Big Hits, Broken Dreams debuts Sunday, January 29 at 8:00p.m. ET.
In September 2008, Jaquan Waller hit a middle linebacker head-on during an intense practice. When he came off the playing field, Waller described headaches and balance issues, but the team trainer who later checked him, sent him home with no special instructions for further medical follow up. Dressed for practice the following day, team mate and friend Zach Rogers describes Waller as seeming “normal.”
But during that Friday’s game, some 48 hours after his first concussion, Waller sustained what has been described by others as a relatively low intensity hit, after which it was quickly apparent that something was very wrong with him. Waller seemed confused, began foaming at the mouth, and soon collapsed. Emergency medical services arrived approximately ten minutes after he was sidelined. Within the hour, Waller was declared dead.
The second guessing at JH Rose following Waller’s death has been painful. “You wouldn’t know how many times I thought about doing something different,” reflects Coach Lipe to Dr. Gupta in the documentary.
Superintendent Beverly Reep, PhD, acknowledges that having a certified athletic trainer on the field for practices and games, and having Waller medically evaluated following his first concussion, may have changed Waller’s outcome.
In 2008, the concussion protocol at JH Rose was not unique. Every season, according the Sports Concussion Institute in Los Angeles, one in ten high school football players gets a concussion. Yet, despite this troubling statistic, the Center for Injury Research & Policy at the Research Institute at Nationwide Children’s Hospital reports that less than half of American high schools have a certified athletic trainer on the field during games and practices. And many high school trainers are not actually athletic trainers, they may be skilled in first aid, but not certified to recognize possible head trauma. This is coupled with the fact that young players often want to return to play quickly – and some will even not tell the truth in order to keep playing.
Brock Niceler, MD, a Greenville family and sports medicine physician says that because their brains are still developing, “adolescents take longer to heal from their concussions, than their college or pro counterparts.”
“Everybody just thought that he just got his ‘bell rung,’” said Rogers of his friend, Waller in the documentary. “Nothing out of normal. It’s just how you play. You play hurt when you have to.”
Kevin Guskiewicz, PhD, one of the nation’s leading concussion researchers, feels that part of the problem is the terminology. Like Dr. Gupta, he prefers to refer to concussion as “brain injury” – since that is what it is – and he hopes the strong terminology will encourage players, families, and coaches to take the injury more seriously. And, Dr. Guskiewicz’s research demonstrates that even subconcussive blows to the head, particularly when repeated, can cause sustained cognitive impairment.
Coach Lipe and Dr. Reep have supervised the implementation of new procedures and protocols to improve the safety of the game since Waller’s death. Now, certified athletic trainers are present at practices and games and are considered essential. Athletes do not have the last word when it is time to assess whether they can play football. Cognitive baseline tests for each player are repeated at intervals during the season and following concussions, to determine if players are healthy enough to return to the game.
Preview here

Saturday, January 28, 2012

Does a child have unexplained CP? Genetic Abnormalities May Cause Cerebral Palsy, Study Suggests

Genetic Abnormalities May Cause Cerebral Palsy, Study Suggests

ScienceDaily (Jan. 26, 2012) — For years it was thought that a difficult birth and other perinatal factors were the leading causes of cerebral palsy (CP), a group of disorders that can involve brain and nervous system functions such as movement, learning, hearing, seeing and thinking. Now, researchers at Geisinger Health System find that the majority of cerebral palsy causes may in fact be caused by genetic abnormalities.
Published in the The Lancet Neurology, Geisinger researchers find that CP -- the most common physical disability of childhood -- is probably caused by multiple genetic factors, similar to other neurodevelopmental disorders such as autism and intellectual disability. The paper suggests physicians should consider performing genetic testing when children present with CP and CP-like conditions.
"There is a widespread misconception that most cases of CP are caused by difficult delivery leading to birth asphyxia," said Andres Moreno De Luca, M.D., research scientist at the Genomic Medicine Institute, Geisinger Health System, and lead author of the paper. "What we're finding is a growing body of evidence that suggests mutations in multiple genes are responsible for CP. In fact, we suspect these genetic abnormalities may also be the cause of some difficult births to begin with."
Despite substantial improvements in obstetric and neonatal care, the paper finds the worldwide prevalence of cerebral palsy has remained stable at 2 to 3 per 1,000 livebirths for more than 40 years. Inadequate oxygen supply to fetuses, known as birth asphyxia, remains the most studied factor associated with CP, though electronic fetal monitoring and other technologies have been developed to detect fetal distress.
"What we're finding is even though more preventative efforts have been put in place, like fetal monitoring, the incidence of CP has not decreased," said David Ledbetter, Ph.D., chief scientific officer, Geisinger Health System. "We've seen a five-fold increase in the rate of caesarean sections, which are done in part to avoid potentially difficult delivery, and again, the CP rates remain steady. These findings lead us to believe genetics play a much bigger role than previously thought."
The paper also reports that even though most cases of CP are not caused by birth asphyxia and those that are can rarely be prevented by obstetric intervention, between 1999 and 2003 an estimated 76 percent of obstetricians in the U.S. faced medical malpractice litigation, most often for alleged birth mismanagement resulting in CP.
"We now know of six genes that can cause CP when disrupted, and we estimate that many other developmental brain genes probably contribute to the genetic heterogeneity of this disorder," said Dr. Moreno De Luca. "Many capable obstetricians face legal action even though research is telling us genetics is the likely cause of most cases of CP."
As the paradigm shift continues and more researchers, clinicians, and the general population start to consider the cerebral palsies as a group of neurogenetic disorders, the paper states we will probably witness an increase in research efforts, a change in the diagnostic approach, and eventually novel therapies for treating CP.

Thursday, January 26, 2012

Adolescents With Autism Spend Free Time Using Solitary, Screen-Based Media

Children with autism spectrum disorders (ASD) tend to be fascinated by screen-based technology. A new study by a University of Missouri researcher found that adolescents with autism spend the majority of their free time using non-social media, including television and video-games.

"Even though parents and clinicians have often observed that children with ASD tend to be preoccupied with screen-based media, ours is the first large-scale study to explore this issue," said Micah Mazurek, assistant professor in the School of Health Professions and the Thompson Center for Autism and Neurodevelopmental Disorders. "We found that 64 percent of adolescents with ASD spent most of their free time watching TV and playing video and computer games. These rates were much higher than among those with other types of disabilities. On the other hand, adolescents with ASD were less likely to spend time using email and social media."

The majority of youths with ASD (64.2 percent) spend most of their free time using solitary, or non-social, screen-based media (television and video games) while only 13.2 percent spend time on socially interactive media (email, internet chatting).

This is the first study to examine the prevalence of screen-based media use within a large nationally representative sample of youths with ASD. Data were compiled from the National Longitudinal Transition Study 2, a group of more than 1,000 adolescents enrolled in special education. The study includes youths with ASD, learning and intellectual disabilities, and speech and language impairments.

The findings affirm that solitary screen-based media use represents a primary and preferred activity for a large percentage of youths with ASD, Mazurek said. Previously, researchers found that excessive use of these media in typically developing children is detrimental to outcomes, with regard to academic performance, social engagement, behavioral regulation, attention and health.

"This is an important issue for adolescents with ASD and their families. Studies have shown that excessive use of TV and video games can have negative long-term effects for typically developing children," Mazurek said. "In future studies, we need to learn more about both positive and negative aspects of media use in children with ASD. We need to look for ways to capitalize on strengths and interests in screen-based technology."

Read more:

Mutations in 2 Genes Linked to Rare Autism-Related Disorder

Newly discovered mutations in two adjacent genes cause a rare genetic brain condition called Joubert syndrome, according to a new study.

People with Joubert syndrome have malformation or underdevelopment of the cerebellum and brainstem, resulting in a range of physical and mental disabilities such as poor muscle control and mental retardation.

As many as four in 10 people with Joubert syndrome meet the criteria for an autism diagnosis and other neurocognitive disorders, according to background information in a news release about the research.

In the study, a team led by University of California, San Diego School of Medicine researchers found that mutations in two adjacent genes -- TMEM216 and TMEM138 -- cause Joubert syndrome.

"It is extraordinarily rare for two adjacent genes to cause the same human disease," team leader Dr. Joseph Gleeson, a professor ofneurosciences and pediatrics, said in the university news release. "The mystery that emerged from this was whether these two adjacent, non-duplicated genes causing indistinguishable disease have functional connections at the gene or protein level."

The researchers conducted evolutionary analysis and concluded that the two genes became joined end-to-end about 260 million years ago. The connected genes then evolved simultaneously and became regulated by the same transcription factors, the authors reported in the study published online Jan. 26 in Science Express.

Read more:

Wednesday, January 25, 2012

Co-Existing Conditions May Explain Why Autism Diagnosis Can Change

Co-Existing Conditions May Explain Why Autism Diagnosis Can Change

Children with autism spectrum disorder (ASD) are more likely to have a co-occurring neurodevelopmental or psychiatric condition, such as a learning disability or depression. Differentiating between these diagnoses can be challenging, and some children originally diagnosed with ASD no longer meet the criteria for an ASD diagnosis as they grow older.

In the study, "Co-occurring Conditions and Change in Diagnosis in Autism Spectrum Disorders," in the February 2012 Pediatrics (published online Jan. 23), researchers at the Johns Hopkins Bloomberg School of Public Health examined the relationship between co-occurring conditions and changes in diagnosis of ASD. Using data from the National Survey of Children's Health 2007, study authors found the type of co-occurring conditions was dependent on the age of the child.

Young children (aged 3-5 years) with a current ASD diagnosis were more likely to have a moderate or severe learning disability or developmental delay compared to children with a past but not current ASD diagnosis. In children ages 6-11, those with a current ASD diagnosis were more likely to have had a past speech problem or current moderate or severe anxiety compared to children with a past but not current ASD diagnosis. Among adolescents (aged 12-17), those with a current ASD diagnosis were more likely to have moderate or severe speech problems or mild seizures or epilepsy compared to children with a past but not current ASD diagnosis. Both children and adolescents with a current ASD diagnosis were less likely to have had past hearing problems than those with a past but not current ASD diagnosis. In all age groups, children with a current ASD diagnosis were more likely to have two or more co-occurring conditions compared to children with a past but not current ASD diagnosis.

The study results suggest some co-occurring conditions may, in part, lead to a change in an ASD diagnosis, though the mechanisms underlying this change remain unclear.

The American Academy of Pediatrics is an organization of 60,000 primary care pediatricians, pediatric medical subspecialists and pediatric surgical specialists dedicated to the health, safety and well-being of infants, children, adolescents and young adults.