But, as an epilepsy specialist, I noted the value and convenience of such a service. My pediatric neurology practice has been offering home EEG service for the Houston area a number of years.
-JR
Showing posts with label epilepsy specialist in Houston. Show all posts
Showing posts with label epilepsy specialist in Houston. Show all posts
Saturday, August 16, 2014
Home testing and monitoring for epilepsy - Available in the Houston Area ..and now in London.
But, as an epilepsy specialist, I noted the value and convenience of such a service. My pediatric neurology practice has been offering home EEG service for the Houston area a number of years.
-JR
Sunday, January 05, 2014
Channelopathy pathogenesis in autism spectrum disorders
Channelopathy pathogenesis in autism spectrum disorders
Abstract
Channelopathy pathogenesis in autism spectrum disorders
Autism spectrum disorder (ASD) is a syndrome that affects normal brain development and is characterized by impaired social interaction as well as verbal and non-verbal communication and by repetitive, stereotypic behavior. ASD is a complex disorder arising from a combination of multiple genetic and environmental factors that are independent from racial, ethnic and socioeconomical status. The high heritability of ASD suggests a strong genetic basis for the disorder. Furthermore, a mounting body of evidence implies a role of various ion channel gene defects (channelopathies) in the pathogenesis of autism. Indeed, recent genome-wide association, and whole exome- and whole-genome resequencing studies linked polymorphisms and rare variants in calcium, sodium and potassium channels and their subunits with susceptibility to ASD, much as they do with bipolar disorder, schizophrenia and other neuropsychiatric disorders. Moreover, animal models with these genetic variations recapitulate endophenotypes considered to be correlates of autistic behavior seen in patients. An ion flux across the membrane regulates a variety of cell functions, from generation of action potentials to gene expression and cell morphology, thus it is not surprising that channelopathies have profound effects on brain functions. In the present work, we summarize existing evidence for the role of ion channel gene defects in the pathogenesis of autism with a focus on calcium signaling and its downstream effects.
Tuesday, August 20, 2013
Houston Area ISD's Seizure Action Plans for Children With Epilepsy
Make sure your child has an action plan...please contact me with a link if I missed your school. As a child neurologist / specialist in epilepsy, I fill out may of these forms. Schools should be aware and prepared. JRSelected Houston Area Seizure ACTION Plans for Schools
Houston ISD Seizure and Asthma action Plans
Katy ISD
- Seizure action Plan http://www.katyisd.org/healthservices/Seizures/Seizure%20Action%20Plan%20.pdf
- Parent Questionnaire http://www.katyisd.org/healthservices/Seizures/Parent%20Questionnaire%20-%20Seizures.pdf
Spring Branch ISD ACTION PLAN for seizures, asthma, allergies & Diabetes
Conroe ISD ( The Woodlands) Seizure information form
Lamar Consolidated ISD ACTION PLAN
Generic Forms from the EPILEPSY FOUNDATION
Friday, August 02, 2013
Fireworks and Migraine - What is a scinitllating scotoma?
Its a type of aura...
Migraine Aura: Typical Features
These four depictions of a scintillating scotoma show one of the more
common manifestations of the visual aura, in which a central scotoma is
bordered by a crescent of scintillating zigzags or other simple geometric
patterns, which slowly advances to the edge of the visual field. The zigzag
pattern is sometimes termed a fortification spectrum for its resemblance to the
battlements of a castle or city wall.
Dr. Hubert Airy, a 19th century physician, described the elaborate scintillating
scotoma he experienced with his migraine aura: “When it was at its height it
seemed like a fortified town with bastions all around it, these bastions being
coloured most gorgeously… All the interior of the fortification, so to speak,
was boiling and rolling around in a most wonderful manner as if it was some
thick liquid all alive.”
While simpler black-and-white patterns are somewhat more common than Dr.
Airy’s elaborate fortification spectra, the migraine aura continues to fascinate
both physicians and patients.
From the AAO...
More here
and
More here
Migraine Aura: Typical Features
- Visual disturbances confined to one field
- – phosphenes, eg, sparks, flashes, geometric forms
- – scotoma, area of diminished vision moving across visual
- field
- – scintillating scotoma, flickering spectrum at margin of
- scotoma
- Sensory: unilateral paresthesias and/or numbness
- Weakness, or more commonly a sense of limb
- heaviness: unilateral
- Speech: dysphasia
These four depictions of a scintillating scotoma show one of the more
common manifestations of the visual aura, in which a central scotoma is
bordered by a crescent of scintillating zigzags or other simple geometric
patterns, which slowly advances to the edge of the visual field. The zigzag
pattern is sometimes termed a fortification spectrum for its resemblance to the
battlements of a castle or city wall.
Dr. Hubert Airy, a 19th century physician, described the elaborate scintillating
scotoma he experienced with his migraine aura: “When it was at its height it
seemed like a fortified town with bastions all around it, these bastions being
coloured most gorgeously… All the interior of the fortification, so to speak,
was boiling and rolling around in a most wonderful manner as if it was some
thick liquid all alive.”
While simpler black-and-white patterns are somewhat more common than Dr.
Airy’s elaborate fortification spectra, the migraine aura continues to fascinate
both physicians and patients.
From the AAO...
Typical visual aura
A translucent semicircle with a jagged edge starts to the left of center in the visual field as a barely noticeable obscuration with a shimmery, zigzag left margin.
Within 10 minutes, it has enlarged to occupy nearly half of the left hemifield.
By 20 minutes, the entire left hemifield is obscured.
This is the "scintillating scotoma" ("fortification scotoma"), the most common and most specific aura (or prodrome) that precedes the headache of migraine. Here is what the visual aura of migraine
looks like to the patient.
looks like to the patient.More about this phenomenon
A visual cortical phenomenon, it is present in the hemifields of both eyes, although most patients believe it is only seen by the eye whose temporal field is affected (unless they went to medical school and learned about hemifield representation of vision!).
Current thinking is that aminergic pathways from the brain stem to the visual cortex set off a wave of excitation followed by depression that causes first the shimmering, then blindness. The jagged leading edge probably results from the way the wave travels across the visual cortex.
The jagged edge and buildup across the hemifield in 20 minutes are unique to migraine, usually a benign phenomenon. In a small minority, migraine is triggered by underlying metabolic or structural disease.
The buildup of a scintillating scotoma occurs in only 25% of migraineurs. Others report stationary shining spots or lines or just blurred vision. These latter hallucinations are not exclusive to migraine, however, and could reflect the visual hallucinations of many processes, including ischemia, intoxication, inflammation, dementia, psychosis, or tumor.
What to do?
The diagnosis of migraine depends entirely on history. Remember that migraine is a "reaction pattern" in the central nervous system. Most of the time it is benign, but serious diseases can imitate it.
In order not to overlook these serious diseases, be sure that the patient's description hits enough characteristic features to make migraine a solid bet. Otherwise, order brain imaging and evaluate for cerebrovascular and meningeal disorders.
More here
and
More here
Wednesday, July 17, 2013
Back to school sleeping tips
Did you know the best preparation for back to school is a good night’s sleep? Lack of sleep can affect a child’s performance, attention, learning, behavior and biological functions, experts say. In fact, recent studies show that American students might be falling behind in school due to a lack of shut-eye.
With all the excitement and stress that accompanies the new school year, many children slip into a pattern all too familiar to tired parents. One more book, one more glass of water, one more TV show ... the child who continually resists going to bed experiences difficulty in falling asleep, resulting in what doctors identify as limit-setting sleep disorder.
Parents can help children through the transition by creating an enjoyable bedtime routine that’s fun and relaxing, says Dr. Laura Sergis, pediatrician for the Children’s Medical Group and advisory board member at Cloud b, creators of award-winning products designed to help children sleep. The all important routine can include family story time with favorite books, sing-alongs to favorite lullabies and cuddly companions that alleviate night time fears with soothing sounds and lights. Incorporating a trusted buddy like Cloud b’s newTwilight Carz in the bedtime routine helps children transition from playtime to bedtime with its fun push and play action by day and its soothing starlight projection by night.
Sleep expert Kim West, licensed certified social worker, also known as The Sleep Lady, recommends that all electronics be turned off an hour before bedtime. Homework and getting bags together should be done before the one-hour electronics off time – the one hour should be for relaxing activities including bathing, washing up, reading, talking about the day, etc. Read stories like the new Scholastic classic, “My Turtle and Me”, inspired by Cloud b’s Twilight Turtle, an adorable plush that projects a soothing view of the night sky to comfort children to a peaceful night’s sleep.
Parents can add another magical element to the routine with Cloud b’s new Twilight Turtle Tunes that plays personalized lullabies featuring favorite songs, soothing sounds and even the voices of loving parents or caregivers as it projects a starry sky above. Parents put it all together on the Twilight Turtle Tunes app that delivers the magic to the special edition toy via Bluetooth.
In planning the ideal bedtime, West suggests parents do “the math backwards.” For example, if your 2-year-old needs to be up at 7 a.m. to get dressed and out the door to daycare, then he should be asleep by 8 p.m. (This age needs, on average, 11 hours at night and two hours during the day.)
She notes that it also goes without saying that parents should eliminate caffeine from their children’s diets. If it can’t be done completely, then no caffeine after 3 p.m. Dinner should be at least two hours before bedtime so that your child gets a chance to digest.
Finally, exercise during the day does help a child sleep better, but try to avoid exercise an hour before bedtime. Definitely avoid rough-housing, which can really rile up a child just when you want him to be settling down.
As parents find the best routine and stick to it, they’ll discover that the whole family is functioning better. Bedtime may become the best time of the day – a calm, quiet moment before slumber to make great memories and strengthen the bond between parents and children.
Read more here
Tuesday, July 16, 2013
Helmet type does not lower concussion risk
Newer, heavier and more expensive football helmets will not lower a player's risk of concussion, new research finds.
A study of more than 1,300 players on football teams at 36 Wisconsin high schools found that players wearing older helmets received just as much protection from concussion as players with flashy new models, said study author Timothy McGuine, senior scientist and research coordinator for the University of Wisconsin Health Sports Medicine Center in Madison.
"The helmet technology is advanced as it can be. They've done a wonderful job. We don't have skull fractures in football," he said. "But I don't know how much padding can be put in to prevent the brain from sloshing around inside the cranium."
This research, to be presented Saturday at the American Orthopaedic Society for Sports Medicine's annual meeting in Chicago, comes at a time when some sports equipment manufacturers are marketing expensive football helmets amid claims that they offer better protection against concussion than earlier models, McGuine said.
"They're all being touted as the next best thing to prevent sports injuries, and it really puts the squeeze on athletic directors and coaches," he said. "Some companies are going right to the parents and saying, 'We know it's too expensive for the school to pay for it, so you should pay for this helmet to protect your child.'"
About 40,000 U.S. high school football players receive a concussion, which is a form of mild traumatic brain injury, every year during play or practice, McGuine said.
As part of the study, licensed athletic trainers at each high school kept detailed records during the 2012 football season. This included recording the safety equipment used by each player, including mouth guards, the number of games and practices in which each player participated, and the number of sports-related concussions sustained.
The players wore helmets manufactured by Riddell, Schutt and Xenith.
Out of 1,332 players tracked, 115 sustained a concussion during the season, McGuine reported.
Researchers found no difference in the rate of concussion by either the type of helmet worn or the helmet's age.
"We found the actual incidence of concussion was not more for players wearing the newest helmets versus wearing helmets 3, 4 or 5 years old," McGuine said. "We also looked at [concussion] severity by helmet model. No difference there, either."
The study also found that players who wore a specialized or custom-fitted mouth guard actually had a higher risk of concussion than players who wore a generic mouth guard provided by their school.
"Should parents pay $30 for a mouth guard to protect their son against concussion, or just use the $1 mouth guard the school provides?" McGuine asked.
The American Medical Society of Sports Medicine released a position statement in January that said hard sports helmets can prevent impact injuries such as lacerations or fractures but have not been shown to reduce the incidence or severity of concussions, said Dr. Anne-Felicia Ambrose, medical director of the traumatic brain injury unit in the department of rehabilitation medicine at Mount Sinai Medical Center in New York City.
"In terms of equipment, there really isn't that much more we can do," Ambrose said. "Where we have a lot of potential for reducing concussion is the way the game is played."
Altering the rules of football games and the guidelines governing practice sessions can make the game safer and prevent concussions, she said.
For example, limiting contact between players outside of competition is one means of reducing concussions, she said. "A lot more concussions occur during practice, when coaches cannot have their eyes on everyone on the field," Ambrose said. "The chance of impact is increased."
McGuine agreed. "I don't see any reason for kids to have full tackle on practice days," he said.
Coaches and athletic trainers also can help reduce injuries by properly fitting each player's helmet at the start of the season and checking the fit every week, he added.
Read more here
Women's Sleep and Heart Health
Getting enough sleep on a regular basis is one important way to protect the health of your heart. Poor and insufficient sleep is associated with a range of cardiovascular problems, including high blood pressure,heart attack, and heart failure. Both men and women are at increased risk for these conditions. But we continue to learn that when it comes to health problems associated with sleep, the particular risks to men and women are not always the same. A new study suggests that for women who already have heart disease, poor sleep may be particularly dangerous to their heart health.
Statistics from the American Heart Association reveal that heart disease is a bigger problem for women than most of us think:
Heart disease is the No. 1 killer of women, and is more deadly than all forms of cancer combined.
- Heart disease causes 1 in 3 women’s deaths each year, killing approximately one woman every minute.
- An estimated 43 million women in the U.S. are affected by heart disease.
- Since 1984, more women than men have died each year from heart disease.
- Only 1 in 5 American women believe that heart disease is her greatest health threat.
Research indicates that poor-quality sleep—and waking too early in particular—is associated with increased inflammation among women with heart disease. There was no similar association found for men, suggesting that women with heart disease and sleep problems may be at particular risk for inflammation that can be damaging to the heart.
Researchers at the University of California San Francisco investigated the relationship between sleep quality and inflammation linked to coronary heart disease. They also sought information about how an association between sleep and inflammation might differ between men and women. Their investigation included 980 men and women at the outset, and 626 completed the 5-year study. All of those included were suffering from coronary heart disease. The average age of men in the study was 66. Women were slightly younger, with an average age of 64. Researchers measured sleep quality by asking participants to rate their sleep over the previous month. They also asked for reports of some of the most common sleep problems, including difficulty falling asleep, difficulty staying asleep, waking frequently throughout the night, and waking too early in the morning. Researchers assessed inflammation levels using 3 biomarkers: Interkeukin-6, C-reactive protein, and Fibrinogen.
After 5 years, researchers repeated tests for inflammation and once again sought reports on sleep quality and sleep problems. When they analyzed data for both men and women together, researchers found no links between inflammation and sleep quality. However, when they analyzed data taking gender into account, researchers found a relationship between inflammation and sleep existed for women, but not for men:
- Women who reported poor sleep quality experienced greater increases in levels of inflammation over the 5-year period than men.
- Women who reported their sleep quality as “very poor” or “fairly poor.” experienced increases to their inflammation markers that were 2.5 times greater than men who reported the same levels of poor sleep.
- The association between inflammation and sleep remained intact for women even after taking into account other factors that might influence inflammation, including age, cardiac function, body mass index, medication use, and lifestyle factors.
- The link between inflammation and sleep for women with coronary heart disease was particularly strong among those women who had a tendency to wake too early in the morning.
- Women were more likely than men to report waking too early. They were slightly more likely than men to report waking frequently during the night and having difficulty falling asleep.
- Because the majority of women in the study were post-menopausal,researchers hypothesized that low estrogen levels might explain the link between poor sleep and inflammation. This question was not examined in the study itself.
This is not the first study to suggest that lack of sleep may be particularly dangerous for women’s heart health. Researchers in the United Kingdom also found inflammation linked to lack of sleep in women. This large-scale study included 4,600 adult men and women. As in the current research, changes to women’s inflammation levels were linked to sleep problems, whereas no such association was found in men. In an Italian studythat included both men and women, women with resistant hypertension—a form of high blood pressure that is not responsive to medication—were 5 times as likely to have sleep problems. There was no similar link between resistant hypertension and poor sleep in men.
This latest study provides some important information about one way that sleep may affect heart health. It’s also another reminder that when it comes to health in general and sleep in particular, gender matters. In recent years there has been an increased focus on learning more about the differences in sleep between men and women, and how these differences may contribute to specific health risks. Evidence suggests that circadian rhythms in men and women are markedly different. Our circadian clocks are remarkably sensitive and precise, and even a small difference in circadian timing can have a significant impact on sleep. We need to continue to pay attention to gender differences in sleep, as a way to better understand, diagnose, and treat both sleep problems and the broad array of health concerns now associated with poor sleep.
Read more here
Tips for sleeping during summer nights
Longer summer days and more hours of daylight can mean sleep problems for many people. This article gives tips for getting better sleep over the summer.
Those extra hours of daylight in the summer contribute to sleep problems experienced by many Americans, experts say.
The Loyola University Health System team offers tips on how to get a good night's sleep.
At least an hour before bedtime, start quieting down and relaxing. Don't exercise or do any other vigorous activities. Turn off handheld devices and remove them from the room. Darken the room and create a comfortable environment in terms of temperature, bedding, mattress and sleepwear.
Try to go to bed at the same time every night. Don't have any food and beverages for several hours before bedtime. This will reduce the chances that you'll have to get up in the night to go to the bathroom.
Make a list of worries, future errands and other things that are on your mind before you go to bed. This can help reduce anxiety, organize your thoughts and prepare you for sleep. Think twice about allowing pets to sleep with you. If they move in the night and make noise, they disturb sleep.
Some people who take medications before bed may do better to take them in the morning or the other way around, according to a Loyola news release. If you think this is an issue, talk to your doctor about changing your medication schedule.
Train your mind and body to associate the bedroom with relaxation and sleep, not exercising, playing games or watching TV. Discuss good sleep strategies with your partner. You need their cooperation for your efforts to succeed.
If your sleep problems persist, you may have a sleep disorder such as sleep apnea, the Loyola experts say. Talk to your doctor about undergoing a sleep study.
Read more here
First Sequencing for the Full Genome of Autism
A collaborative formed by Autism Speaks, the world's leading autism science and advocacy organization, has found full genome sequencing examining the entire DNA code of individuals with autism spectrum disorder (ASD) and their family members to provide the definitive look at the wide ranging genetic variations associated with ASD. The study published online today in American Journal of Human Genetics, reports on full genome sequencing on 32 unrelated Canadian individuals with autism and their families, participants in the Autism Speaks Autism Genetic Resource Exchange (AGRE). The results include both inherited as well as spontaneous or de novo, genetic alterations found in one half of the affected families sequenced.
This dramatic finding of genetic risk variants associated with clinical manifestation of ASD or accompanying symptoms in 50 percent of the participants tested is promising, as current diagnostic technology has only been able to determine a genetic basis in about 20 percent of individuals with ASD tested. The large proportion of families identified with genetic alterations of concern is in part due to the comprehensive and uniform ability to examine regions of the genome possible with whole genome sequencing missed in other lower resolution genome scanning approaches.
"From diagnosis to treatment to prevention, whole genome sequencing efforts like these hold the potential to fundamentally transform the future of medical care for people with autism," stated Autism Speaks Chief Science Officer and study co-author Robert Ring, Ph.D.
The study identified genetic variations associated with risk for ASD including de novo, X-linked and other inherited DNA lesions in four genes not previously recognized for ASD; nine genes previously determined to be associated with ASD risk; and eight candidate ASD risk genes. Some families had a combination of genes involved. In addition, risk alterations were found in genes associated with fragile X or related syndromes (CAPRIN1 and AFF2), social-cognitive deficits (VIP), epilepsy (SCN2A and KCNQ2) as well as NRXN1 and CHD7, which causes ASD-associated CHARGE syndrome.
"Whole genome sequencing offers the ultimate tool to advance the understanding of the genetic architecture of autism," added lead author Dr. Stephen Scherer, senior scientist and director of the Centre for Applied Genomics at The Hospital for Sick Children (SickKids) and director of the McLaughlin Centre at the University of Toronto. "In the future, results from whole genome sequencing could highlight potential molecular targets for pharmacological intervention, and pave the way for individualized therapy in autism. It will also allow for earlier diagnosis of some forms of autism, particularly among siblings of children with autism where recurrence is approximately 18 per cent."
This $1 million collaboration of Autism Speaks, SickKids, BGI and Duke University piloted Autism Speaks' initiative to generate the world's largest library of sequenced genomes of individuals with ASD announced in late 2011. "As we continue to test more individuals and their family members from the AGRE cohort, we expect to discover and study additional genetic variants associated with autism. This collaboration will accelerate basic and translational research in autism and related developmental disabilities," concluded Autism Speaks Vice President for Scientific Affairs Andy Shih, Ph.D. who oversees the collaboration, "and this collection of sequenced genomes will facilitate new collaborations engaging researchers around the world, and enable public and private entities to pursue pivotal research."
In this pilot effort, a total of 99 individuals were tested, including the 32 individuals with ASD (25 males and seven females) and their two parents, as well as three members of one control family not on the autism spectrum. Using families in the Autism Speaks AGRE collection, this Autism Speaks initiative will ultimately perform whole genome sequencing on more than 2,000 participating families who have two or more children on the autism spectrum. The data from the 10,000 AGRE participants will enable new research in the genomics of ASD, and significantly enhance the science and technology networks of Autism Speaks and its collaborators.
Read more here
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