15 Tips for Better Sleep

This article discusses 15 simple tips to help you get a better night's sleep.

The worst part is that physically all the tossing and turning is guaranteed to turn you into a crabby and worn out person during the next day. If getting good night's sleep is a struggle for you, then it's time to adopt a healthier lifestyle or tweak your current one. Today, we have compiled a list 20 best tips which will help get the most out of your sleeping hours.

Tip for better sleep # 1: Follow a sleep timetable
Follow a sleeping and waking up routine. Our sleep cycles work together with the 'circadian clock' of our brains. If you follow a same sleeping pattern, your brain will discipline your body to strictly maintain the same sleeping schedule. Hence, maintain a regular bedtime and wake-up time even during weekends to strengthen your circadian function which will help you to achieve a consistent and sound sleep.

Tip for better sleep # 2: Create a bedtime habit and follow it
You can teach your body any form of bedtime activity like going for a shower or listening to a soothing music or reading a book before going to sleep.

These types of activities will promote better sleep by easing the evolution period from wakefulness to sleepiness. All your pre-sleeping activities should preferably be done in dimmed lights. Never include electronic gadgets like TV or computer in your bedtime ritual as it will interfere with your sleeping pattern.

Tip for better sleep # 3: Take a small nap if you missed your sleeping pattern
If you failed to catch up on your regular sleeping timetable then opt for a nap during the day time instead of sleeping a little extra in the morning. Its best to pay off your sleep debts without disturbing your routine.

If you break your timetable regularly, then the lack of sleep will put you at several sleep disorders risk like insomnia. Hence, pay your sleep loans by taking small naps or by practicing relaxation techniques during day time.

Tip for better sleep # 4: Create a sleeping environment
Deep sleep can be achieved only in a sleep-conducive environment. Choose a dark, quiet, comfortable and cool place to sleep. Your sleeping area should be without interruptions and noise - including your partner's snoring, too much light and heat. Use dark curtains, fans and ear plugs to create a sleeping atmosphere.

Tip for better sleep # 5: Avoid harmful drinks before sleep
Avoid drinking liquids like coffee, tea and cola at least four to six hours before bedtime. Coffee includes caffeine - a product which can keep you awake for hours. Wondering if you should refrain from drinking alcohol as well? Then the answer is yes.

Though alcohol can help you to sleep, but if you keep drinking regularly it can act as a stimulant and can keep you awake for longer. Hence, limit the consumption of alcohol to not more than one drink per day and avoid drinking before three hours of bedtime.

Tip for better sleep # 6: Restrict your area just for sleep and sex
Your bedroom should be the place for relaxation and rest. Practice only sex and sleep in your bedroom and never use it for talking on the phone, watching TV or eating.

Tip for better sleep # 7: Learn your sleeping position
Sleep position is the position you move onto before falling asleep. If you are not feeling sleepy, you will keep on taking twist and turns and will probably lie on your back or stomach until sleep hits.

Learn your best sleep position so that you can go in your dreamland as soon as you get into your bed.

Tip: Take a few deep breaths, relax and your body will assume that it's time to sleep and you'll be fast asleep in no time.

Tip for better sleep # 8: Good mattress is important
Invest in a nice, comfortable and supportive mattress and pillow. If your mattress is comfortable and supportive then you will be able to fall asleep sooner.

Tip for better sleep # 9: Limit daytime naps
Your long daytime naps can also be the reason for your sleepless nights. If you are struggling with sleepless nights than limit your snooze time to about 10 to 30 minutes and it should be ideally mid afternoon. But you are a night worker, and then you are an exception to this rule.

Tip for better sleep # 10: Refrain from using TV or computer at night
Many people relax by watching television or using the computer at the end of the day. People, this is a big mistake and should be avoided as far as possible. TV lights can stimulate your mind rather than relaxing it. Hence, if you prefer watching your favorite show before going to bed, then it's best to tweak that habit.

Tip for better sleep # 11: Exercise regularly
Exercising regularly will help you to fall asleep easily and will also contribute to a quality sleep. However, finish your exercise at least 3 hours before bedtime so that your body temperature is associated with sleep onset.

Tip for better sleep # 12: Go to sleep when you are tired
If you simply hit the bed after a restful day, then we are pretty sure that you will actual struggle to sleep and this struggle to fall asleep can actually lead to frustration. If you're not asleep after 20 minutes, get out of bed, go to another room, and do something relaxing like deep breathing, meditation or listening to music.

Tip for better sleep # 13: Quit smoking
Cigarette is filled with nicotine and it is substance similar to caffeine. It acts as a stimulant and can keep you away from getting a good night's sleep. Hence, quit smoking if you want to sleep better or smoke fewer cigarettes at least four hours before bed.

Tip for better sleep # 14: Manage your stress level
One of the biggest enemies of good sleep is your stress level. If you constantly worry then you are consciously hampering your sleep pattern. If you want to sleep well, then mange your stress level efficiently. Give yourself a break or share a laugh with your friends. Before bedtime, jot down what's on your mind and then set it aside for tomorrow.

Tip for better sleep # 15: Visit a doctor
In spite of trying all the possible tips if you are still experiencing trouble while falling asleep, then consult a doctor as soon as possible. A doctor will actually help you to find out the core reason which is disturbing your sleep pattern. If you are experiencing trouble falling asleep for more than 20 days, then it's high time that you should take medical help.

Read more here

Greater Costs, Morbidity Among Uncontrolled Epilepsy Patients

An intersting article about the costs of poorly controlled epilepsy - JR

Greater Costs, Morbidity Among Uncontrolled Epilepsy Patients

By: TARA HAELLE, Clinical Neurology News Digital Network

10/23/12 

VITALS

Major Finding: Compared with patients with well-controlled epilepsy, patients with uncontrolled epilepsy have 1.9-2.2 times more fractures and head injuries, receive 1.3-1.9 times more prescriptions, are hospitalized 5.4-6.7 times more often, are admitted to emergency departments 3.7-5 times more often, and incur $12,258-$14,582 greater annual health care costs.

Patients whose epilepsy was uncontrolled had more injuries, spent more time in the hospital, received more prescriptions, and incurred greater health care resource usage and costs than did patients whose epilepsy was under control in a retrospective, longitudinal matched-cohort study.

Additionally, uncontrolled epilepsy in private insurance patients incurred nearly $2,900 more in work time lost for disability and sick leave, comprising about one-fifth of these patients’ total direct health care costs.

Lead author Ranjani Manjunath of GlaxoSmithKline and her associates analyzed public and private insurance claims to determine how health care resource utilization and costs and epilepsy-related injuries differed between patients with uncontrolled epilepsy and those with well-controlled epilepsy. The findings were reported online Oct. 17 (Neurology 2012;79:1908-16).

The researchers defined patients with uncontrolled epilepsy as those who had at least two consecutive changes in their antiepileptic drug (AED) regimen (at least a month apart) and at least one subsequent hospitalization or emergency department visit within the next year. Patients taking AEDs but who had no changes in their therapy as well as no hospitalizations or ED visits were defined as having well-controlled epilepsy.

A total of 3,454 Medicaid patients and 602 private insurance patients with uncontrolled epilepsy were matched 1:1 with well-controlled epileptic patients for the study. Propensity score matching was used to reduce sample selection bias, and adjusted risk ratios for outcomes took into account age, sex, state or region, baseline AED use, use of other drugs known to increase seizure risk, baseline costs, and psychiatric conditions or epilepsy-related comorbidities (Alzheimer’s disease, brain tumor, meningitis, migraine, and stroke). A lower percentage of uncontrolled epilepsy patients were using AEDs at baseline: 48.1% of uncontrolled Medicaid patients, compared with 52.6% of well-controlled Medicaid patients (P less than .001), and 40% of uncontrolled private patients, compared with 45.5% of well-controlled private patients (Pless than .05).

...

The researchers selected only adult patients who had a prescription for an AED and who had been diagnosed with epilepsy or diagnosed with two nonfebrile seizures more than a month apart. All patients had been enrolled in their insurance plan for at least a year, and baseline included the 180 days before the patient’s first AED prescription. Patients were tracked until death, the end of continuous enrollment, or the end of the period for which data were available.

The study found that Medicaid and private patients with uncontrolled epilepsy had similarly higher incidence rate ratios (incidence rate defined as events divided by patient-years) of injury with 1.9-2.2 times more fractures and head injuries. 

Medicaid patients had 2.45 times more car accident injuries and 10 times more status epilepticus episodes.

Compared with patients who had well-controlled epilepsy, Medicaid patients had 1.94 times more AED prescriptions, 1.47 times more non-AED prescriptions, 6.65 times more hospitalizations, 7.72 times more days in the hospital, 3.67 times more ED visits, 1.66 times more outpatient services, and 3.09 times more neurologist visits. 

Likewise, private patients received 1.75 times more AED prescriptions, 1.34 times more non-AED prescriptions, 5.37 times more hospitalizations, 7.27 times more days in the hospital, 5.05 times more ED visits, 1.41 times more outpatient services, and 2.28 times more neurologist visits. (All P values were less than .05.)

Overall, Medicaid patients with uncontrolled epilepsy incurred an average $12,258 more in costs than Medicaid patients with well-controlled epilepsy, and uncontrolled epileptic private patients’ total extra cost was $14,582. 

Most of these costs came from hospitalization; outpatient services and prescription drugs comprised the next largest share. Private patients also missed 2.5 times more workdays, including 61% more sick days.

Article here

Seizure Alert Dog Placement in Texas

Seizure Alert Dog Placement  in Texas

 

My name is Cindy and I train Seizure Alert Dogs for people around the San Antonio area. 

 I'm looking to place this dog in the picture.  She is a lab, boarder collie mix.  She needs a very specific environment so please don't apply for her if you do not meet all requirements. 

 She was temporarily placed with someone with seizures and has proven to alert.  She can not be in a house with any dogs, cats or free roaming animals.  She can not be placed with a child or in a home where there is children under the age of 11.  She loves kids but they are too much of a distraction for her in the home.  She has to go everywhere with the person she is placed with.  You must have a fenced yard but she is never outside by herself.  You have to be available for training.  If you do not live in the San Antonio area, you must be able to come for training or fly me to you.  You must be financially capable to pay for all vet/equipment bills.  You will be responsible for fees that she has accumulated during her training and her equipment, approx. $800.  You will also be responsible for fees during the training.  This will depend on where you live.  You can send a one page letter to me at my email address buechner1@aol.com explaining your desire to have Lily.  Please put the word Lily in the Subject box or it could get deleted. 

 

I have another dog that is service trained that needs to be placed.  She is a blonde lab.  She is currently a breeder for a guide dog facility.  She has very specific needs as well.  She has to be placed in the San Antonio area.  The guide dog facility has agreed to let me place Ava while she is still in the breeding program.  She is slated to have two litters of puppies.  She will have to be under my care during the delivery and 6 weeks after she has the puppies.   She has to be placed with an older child that doesn't go to school or a young adult an older.  She needs to be the only dog in the house but cats are ok.  She has to go everywhere with the person she is placed with. You must have a fenced yard but she is never outside by herself. You have to be available for training.  You must be financially capable to pay for all vet/equipment bills. You will be responsible for a rehoming fee of $600 plus equipment costs and costs during the your training. You can send a one page letter to me at my email address buechner1@aol.com explaining your desire to have Ava. Please put the word Ava in the Subject box or it could get deleted.   It will be some challenges with her since you have to give her back during delivery but she is well worth the trouble.  She is being bred because she is really a special and hard working dog.  We will have to spend a lot of hours training the alert with you but she is a quick learner. 

Epilepsy & Global Health - A New Priority

An article from BBC discusses how epilepsy is turning into a global health issue.

Epilepsy is twice as common in low and middle-income countries as it is in the developed world, according to an international team of researchers.

They say the higher incidence is linked to increased risk factors, including head injuries and infections such as pork tapeworm and river blindness.

And more than 60% of sufferers in those countries receive no appropriate treatment, they say in the Lancet.

A Lancet editorial said epilepsy had to be a global health priority.

Epilepsy is a condition in which disturbances to the brain's normal electrical activity cause recurring seizures or brief episodes of altered consciousness.

There are about 40 different types. Epilepsy is not a mental illness, but can develop after injury or damage to the brain.

About 85% of the global burden of epilepsy occurs in low and middle-income countries.

'Bewitched'

Writing in the Lancet, researchers led by Prof Charles Newton, of the University of Oxford, say the death rate in developing countries is much higher than in developed ones - and that the reason for this is likely to be a failure to treat people with the condition.

Continue reading the main story

Prof Newton said: "The burden of epilepsy in these regions is at least double that found in high-income countries, and sadly, adequate facilities for diagnosis, treatment and ongoing management of epilepsy are virtually non-existent in many of the world's poorest regions."

He added: "Many people with epilepsy or their families do not even know that they have a disorder that can be controlled with biomedical treatment, so it is vitally important that awareness is raised and medical care improved in these regions."

Medications are available - but there can be problems distributing them, especially to remote areas.

The researchers say there are low-cost ways of improving the situation and of reducing the stigma often faced by people with epilepsy and their families - such as working with traditional healers and awareness campaigns to increase understanding of the condition.

In some countries, traditional beliefs about the causes of the condition, including bewitchment, spiritual causes and curses, lead to stigma and increase the chance that a person with epilepsy will not get the treatment they need.

A Lancet editorial adds: "Given the prevalence of epilepsy globally, it should be included as a priority on the public health agenda, and access to treatment should be greatly improved in developing countries.

"It is time for all governments to take epilepsy more seriously."

Read more here

Dr. Rotenberg to speak at Houston Epilepsy Foundation Conference

  

2012 Family Conference

November 10, 2012

Toyota Center

Houston, Texas

Registration

2:00 p.m.

Session I

3:00 p.m.

Parent Track: Dr. Rotenberg- Seizures and Sleep

Adult Track: Maria Palacios- Living Well with Epilepsy

Session II

4:00 p.m.

Parent Track: Mary Jane Williams- IEP and ARD Overview

Adult Track: Dr. Hartshorn- Medical Management

Session III

5:00 p.m.

Parent Track: Dr. Wilfong- New Treatment & Surgery Options

 

Adult Track: Dr. Kalamagalam- 

New Treatment & Surgery Options

Dinner

6:00 p.m.

Houston Rockets vs. Detroit Pistons

7:00 p.m.

Activities will be provided for children 

ages 6-13 years during the conference

**Parking is not included in the ticket price. 

Participants are responsible for their own parking 

at the Toyota Center**

Contact Heather at hpena@eftx.org

buy tickets here 

or 888-548-9716 or 713-789-6295 with any questions. 

 link to full flyer here

Effect of Treatment of Obstructive Sleep Apnea on Seizure Outcomes in Children With Epilepsy

Besides medicine, what else can you do to reduce seizures in children? Check their sleep! JR

Effect of Treatment of Obstructive Sleep Apnea on Seizure Outcomes in Children With Epilepsy

• Eric Segal, MD
, 
• Martina Vendrame, MD, PhD
, 
• Matthew Gregas, PhD
, 
• Tobias Loddenkemper, MD
, 
• Sanjeev V. Kothare, MD

Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts

Received 22 October 2011; accepted 8 March 2012.

• Abstract
• Full Text
• PDF
• References

Abstract 

A retrospective review of children with epilepsy and obstructive sleep apnea, treated surgically for their obstructive sleepapnea from January 2008-October 2010, was performed for age, sex, type of epilepsy, antiseizure medications, sleep-study data, and changes in seizure frequency. Twenty-seven subjects (median age, 5 years) with no adjustment to their medications around their time of surgery were identified. Three months after surgery, 10 (37%) patients became seizure-free, three (11%) demonstrated >50% seizure-reduction, and six (22%) exhibited an amelioration of seizure frequency. Two (7%) demonstrated unchanged seizure-frequency, and six (22%) manifested a worsening of seizure frequency. Median seizure frequency before surgery was 8.5 (interquartile range, 2-90), and after surgery, three (interquartile range, 0-75), with a 53% median seizure reduction. Multivariate analysis demonstrated a trend toward seizure freedom with each percentile increase in body mass index and early age of surgery. We conclude that obstructive sleep apnea surgery may decrease seizure frequency, especially in children with elevated body mass index scores and younger age at time of surgery.

article here

Obstructive sleep apnea, seizures, and childhood apraxia of speech. Pediatric Neurology - Volume 38, Issue 6 (June 2008) (MEDLINE® is the source for the citation and abstract of this record)  - About This Journal  DOI: 10.1016/j.pediatrneurol.2008.03.002

Abstract:

Associations between obstructive sleep apnea and motor speech disorders in adults have been suggested, though little has been written about possible effects of sleep apnea on speech acquisition in children with motor speech disorders. This report details the medical and speech history of a nonverbal child with seizures and severe apraxia of speech. For 6 years, he made no functional gains in speech production, despite intensive speech therapy. After tonsillectomy for obstructive sleep apnea at age 6 years, he experienced a reduction in seizures and rapid growth in speech production. The findings support a relationship between obstructive sleep apnea and childhood apraxia of speech. The rather late diagnosis and treatment of obstructive sleep apnea, especially in light of what was such a life-altering outcome (gaining functional speech), has significant implications. Most speech sounds develop during ages 2-5 years, which is also the peak time of occurrence of adenotonsillar hypertrophy and childhood obstructive sleep apnea. Hence it is important to establish definitive diagnoses, and to consider early and more aggressive treatments for obstructive sleep apnea, in children with motor speech disorders.

Citation:

Obstructive sleep apnea, seizures, and childhood apraxia of speech.
Caspari SS - Pediatr Neurol - 01-JUN-2008; 38(6): 422-5
MEDLINE® is the source for the citation and abstract of this record 

NLM Citation ID:
18486825 (PubMed ID)

abstract here

Headset that Treats Epileptic Seizures?

Headset that Treats Epileptic Seizures? 

Another new "neuroprosthetic" reaching overseas patients. JR

A new headset over a number of years has shows a 60% decrease in epileptic seizures for some epileptic patients.

A small electrical headset that works during sleep could help to treat patients with major depression and severe epilepsy.

The device takes the form of two square, sticky pads attached to either side of the forehead, just above a major nerve in the brain. 

These pads are attached by wires to a small box the size of a mobile phone that sits at the waist. It generates a small electrical pulse that lasts 30 seconds and is followed 30 seconds later by another pulse.

The pulses stimulate the trigeminal nerve and can reduce the number and severity of epileptic seizures as well as combating depression.

Studies have shown that a small number of severely epileptic patients who used the gadget for a year saw their number of seizures drop by an average of 60 per cent.

Meanwhile, tests on people with major depression saw their scores on the Beck Depression Inventory,  a scale used to rank depression, improve significantly.

The procedure, called Trigeminal Nerve Stimulation, was created by a team of neurologists at the University of California.

Their device, known as Monarch, was then developed by the medical devices firm Neurosigma and has now been approved for use in Europe after pilot studies showed it could provide an additional treatment for patients with depression and epilepsy.

It would normally be used in conjunction with drugs to treat patients whose seizures cannot be controlled by medicine alone.

Although experts are still not clear as to exactly why stimulating the trigeminal nerve reduces seizures and depression, it is the latest in a series of stimulation devices. However, this one is exciting doctors and patients because it does not require surgery.

Monarch will be made available in the UK privately within the next few months and will eventually be assessed for use on the NHS.

Epilepsy affects 600,000 people in Britain and only around half are seizure-free.

Read more here

Pregnant Mother's Sleep Apnea Can Hurt Health of Child

This article discusses how a pregnant mother's sleep apnea affects both her and her child.

Women who suffer from sleep apnoea during pregnancy are more likely to have babies who suffer from early health problems, researchers say.

They found babies of mothers with the breathing disorder had a greater risk of needing neonatal intensive care than unaffected mothers.Scientists from Case Western Reserve University in Cleveland studied obese pregnant women both with and without obstructive sleep apnoea.

They found OSA was also associated with higher rates of pre-eclampsia in the overweight women.The pregnancy complication causes high blood pressure and for protein to leak into the urine. If untreated it can develop into eclampsia, which is a type of life-threatening seizure.

Lead author Dr Judette Louis, from the University of South Florida, said: ‘Our findings show that obstructive sleep apnea can contribute to poor outcomes for both obese mothers and their babies. ‘Its role as a risk factor for adverse pregnancy outcomes independent of obesity should be examined more closely.’

Sleep apnoea occurs when muscles and soft tissues in the throat collapse sufficiently during sleep to block the airway for 10 seconds or more. A sufferer can have as many as 100 episodes during the night, with each one jerking them out of deep sleep causing fatigue.

Some experts believe pregnancy can increase the chances of developing sleep apnoea, especially in the third trimester due to weight gain. Nasal membranes can also swell as blood vessels expand over the nine months.

Those who are overweight before they fall pregnant are more likely to develop the condition. A fifth of women in the U.S are obese when they conceive, but the number is not known in the UK.

Dr Louis and former colleagues from Case Western Reserve, analysed data for 175 obese pregnant women who had been tested for OSA at home using a portable device.Around 15 per cent of the participants had sleep apnoea. These women were heavier on average and more likely to have high blood pressure.

Around 42 per cent of women with sleep apnoea had pre-eclampsia compared to 17 per cent of those without the condition. Meanwhile nearly half (46 per cent ) of babies born to women with sleep apnoea needed intensive care treatment compared to 17 per cent of the other overweight mothers. Many of these admissions were due to respiratory distress.

Finally 65 per cent of the women with sleep apnoea required a caesaeran section compared to a third of those without the condition. Premature birth rates were similar between the groups.

Approximately one in five women are obese when they become pregnant in the U.S, according to research from the federal Centers for Disease Control and Prevention. Such statistics are not gathered in the UK.

While numerous studies have examined complications associated with obesity in pregnancy - including high blood pressure and gestational diabetes - sleep apnoea has been underdiagnosed and understudied.

The study authors suggest the best way to decrease obesity-related conditions that lead to poor pregnancy outcomes, including sleep apnoea, would be to treat obesity before a woman becomes pregnant, but acknowledge that ‘losing weight is often difficult.’Dr Louis said the study also points to the need for better ways to screen and treat this common form of sleep-disordered breathing during pregnancy.

Read more here

Scientists Discover Biological Mechanism That Triggers Epileptic Seizures

Scientists have found a biological mechanism that is capable of causing seizures. This is an important discovery for both therapies and future research.

Scientists have discovered the first direct evidence that a biological mechanism long suspected in epilepsy is capable of triggering the brain seizures -- opening the door for studies to seek improved treatments or even preventative therapies.

Researchers at Cincinnati Children's Hospital Medical Center report Sept. 19 in Neuron that molecular disruptions in small neurons called granule cells -- located in the dentate gyrus region of the brain -- caused brain seizures in mice similar to those seen in human temporal lobe epilepsy. The dentate gyrus is in the hippocampus of the temporal lobe, and temporal lobe epilepsy is one of the most common forms of the disorder.

"Epilepsy is one of those rare disorders where we have no real preventative therapies, and current treatments after diagnosis can have significant side effects," said Steven Danzer, PhD, principal investigator on the study and a neuroscientist in the Department of Anesthesia at Cincinnati Children's. "Establishing which cells and mechanisms are responsible for the seizures allows us to begin working on ways to control or eliminate the problem therapeutically, and in a more precise manner."

Epilepsy can develop from a wide range of causes, including birth defects in children that disrupt normal brain development. It can also surface in children and adults who suffer serious brain injuries. These individuals can have high risk of developing some form of epilepsy, depending on the location and severity of their injury, Danzer said.

Technical advances in genetically altering laboratory mice to mimic human disease made it possible for the scientists to generate animals with a specific molecular disruption in dentate gyrus granule cells (DGCs). DGCs are one of only two populations of neural cells that continue to form in significant numbers in the mature brain -- the other being olfactory neurons. This is beneficial considering the hippocampus is responsible for learning and memory, and the dentate gyrus acts as a gate for excitatory signals in the brain that can lead to seizures if not properly regulated.

The presence of abnormal DGCs in epilepsy has been observed for decades, although evidence linking them to seizures was lacking until the current study. Danzer and his colleagues were able to delete a gene called PTEN from mouse DGCs that formed after birth. This caused hyper-activation of a molecular pathway called mTOR (mammalian target of rapamycin), which regulates cell growth and is also linked to tumor formation and cancer when hyper-activated under certain circumstances.

In tests by Danzer and his colleagues, hyper-activation of mTOR caused mice to develop abnormal neural connections among their DGCs -- similar to that observed in human temporal lobe epilepsy -- and the animals experienced seizures. Abnormal neural connections and seizures occurred even in mice that had the PTEN gene deleted in less than 10 percent of their total DGC population, strengthening the link between biological disruption of DGCs and seizures.

When researchers treated epileptic mice with a drug that blocks the mTOR pathway -- rapamycin -- the seizures stopped, solidifying the link to the PTEN-mTOR pathway. Rapamycin has been tested successfully at Cincinnati Children's in the treatment of a disease called tuberous sclerosis, in which benign but still dangerous tumors can form around critical organs. Interestingly, people with tuberous sclerosis are also at risk for developing epilepsy, Danzer said. Newer mTOR inhibitors are also being tested at Cincinnati Children's for the treatment of epilepsy.

Danzer is following up the current study by trying to eliminate abnormal DGCs from the brains of mice that already have epilepsy and to see if this will stop the seizures. Researchers are attempting this by treating mice systemically with diphtheria toxin.

Although diphtheria toxin is not normally toxic to mouse cells, in their experiments the researchers will add a molecule to abnormal mouse DGCs that binds with the toxin. In theory, this should allow the toxin to kill off abnormal DGCs. If treatment stops the seizures, it would further verify the connection between abnormal DGCs and the onset of epilepsy, Danzer said. This would also allow researchers to begin laboratory testing of prospective therapeutic strategies for treatment and prevention.

Mutations involving PTEN and the mTOR pathway have also been identified in other neurological conditions, such as autism and schizophrenia. Danzer said findings in the current study will likely attract the interest of researchers studying these diseases and others involving abnormal granule neurons generated after birth.

"The profound impact of disrupting this pathway in just a small number of granule cells suggests the dentate may be a critical target for mTOR pathway mutations in other neurological diseases," Danzer said. "We believe neuroscientists will be surprised by the huge neurological impact of granule cell disruption and interested in the demonstration of a potentially novel disease mechanism."

Read more here

The invisible disease that's killing our son - Mitochondrial Disease

Mitochondrial disease is not rare.   Access  a knowledgeable  neurologist to see if this could be causing seizures, muscle weakness, pain, stiffness, movement disorders, autism,  autonomic problems or other conditions. JR

The invisible disease that's killing our son

By Lori Martin, Special to CNN

updated 1:59 PM EDT, Fri September 21, 2012

STORY HIGHLIGHTS

• Every 30 minutes a child is born who will develop mitochondrial disease by age 10
• Mitochondria are responsible for creating more than 90% of our body's energy
• The disease primarily affects children, but adult onset is becoming more common

(CNN) -- On July 5, 2011, my husband and I were told that our 2-year-old son has an invisible killer living inside his body.

Just a few short years ago, I was happily pregnant. Now, suddenly: Why? What? When? All these questions came with so few answers about a disease that few know about or understand.

That invisible killer is called mitochondrial disease. Our son's specific mutation is called Leigh's Disease.

We're one of the lucky ones. It took us only a year to get a diagnosis -- a year filled with anesthesia, a CAT scan, a muscle biopsy, a lumbar puncture, an MRI, an echocardiogram, an EKG, specialists and so on. Most families spend years attempting to find a diagnosis because of the complexities of DNA sequencing.

This silent killer is attacking our nation's children at an appalling rate. According to the United Mitochondrial Disease Foundation, every 30 minutes a child is born who will develop a mitochondrial disease by age 10.

As a first-time mom, I had no idea that I should have been scared of mitochondria. All I knew was some fuzzy science from high school biology about mitochondria being the powerhouse cells of our body.

Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow.

If this process is repeated throughout the body, whole systems begin to fail, and that person's life is severely compromised. The disease primarily affects children, but adult onset is becoming more common......

....It's National Mitochondrial Disease Awareness week. For us, every day we're deeply aware -- our son is lucky.

Our doctor says he has a mild case of what will one day kill him. We get to hear him say, "I love you" and watch him laugh with friends. So many other "mito" kids can't even roll over, swallow their food or see their favorite "Veggie Tales" character on TV.

There are a lot of days I don't feel so lucky. But then this tow-headed goofball comes barreling at me wanting to give me a bear hug (complete with sound effects) and it snaps me out of my sadness.

My son is my hero. He pushes us to keep going. He is the one enduring endless blood draws, hospital stays and experimental drugs.

There is no cure, but there is hope. Recently, Edison Pharmaceuticals received orphan status for the drug EPI-743. We're one of 128 people in the world who somehow managed to get a spot in their research program.

Essentially, the drug is supposed to help Will's mitochondria function better, giving him increased energy and a chance at a better quality of life.

I often find myself feeling guilty that we're on it when there are so many others who should be. Likely, by the time the Food and Drug Administration approves it, many of these children will perish. It's not a cure, but it is a sign of hope.

http://www.cnn.com/2012/09/21/health/mitochondrial-disease-martin-family/index.html?hpt=hp_c1