Kleefstra Syndrome - Meetup In October in 2012

What is Kleefstra Syndrome

Last Updated on Thursday, 31 May 2012 12:44

Kleefstra syndrome is a rare genetic condition in which a tiny piece is missing from near the end of one of the body’s 46 chromosomes. The missing piece includes a gene called EHMT1. Its absence is believed to cause the major symptoms of the syndrome. The syndrome was officially recognised as Kleefstra syndrome in April 2010 but you may still see it referred to as any of the following:

• 9q34.3 deletion

This was the most common name before Kleefstra Syndrome was recognised, and in fact our original website address was www.9q34.org In April 2010 OMIMrecognised the term "Kleefstra syndrome" and in May 2010 our website adopted the new name.  

• 9qSTDS

Short for 9q Subtelomere Deletion Syndrome - It was suggested by a specialist in the field that this become the uniformed name. Some parents disliked this however, due to other meanings of the term STD.

• CHOMS

Short for Craniofacial characteristics, Hypotonia, Obesity, Microcephaly, Speech problems.  It was suggested to be the uniformed name by one of the specialists looking at the condition.

Other variations are:    

• 9q34.3 microdeletion

• 9q34.3 terminal deletion syndrome
• 
  

Diagnosis

What are the first signs that a baby or child has the disorder?

The first signs can be incredibly diverse. Out of a group of 14 babies, five seemed fine at birth but concern grew later about their development: they failed to track visually, to watch their mother while feeding or their rate of development was slow. One baby seemed to progress as expected until developing a type of seizure at three months; another repeatedly failed hearing tests.

In nine babies there were signs immediately after birth of something wrong, varying from a weak cry, feeding difficulties and unusual facial features (twice thought to suggest Down’s syndrome) to a small head, hernias in the groin and at the navel, a floppy larynx, heart problems, cataracts and seizures. Although a low muscle tone (floppiness) is usually characteristic of newborn babies with Kleefstra syndrome, this may not be obvious: in four babies, no floppiness was observed.

Diagnosis

Last Updated on Tuesday, 01 May 2012 12:56

What are the first signs that a baby or child has the disorder?

The first signs can be incredibly diverse. Out of a group of 14 babies, five seemed fine at birth but concern grew later about their development: they failed to track visually, to watch their mother while feeding or their rate of development was slow. One baby seemed to progress as expected until developing a type of seizure at three months; another repeatedly failed hearing tests.

In nine babies there were signs immediately after birth of something wrong, varying from a weak cry, feeding difficulties and unusual facial features (twice thought to suggest Down’s syndrome) to a small head, hernias in the groin and at the navel, a floppy larynx, heart problems, cataracts and seizures. Although a low muscle tone (floppiness) is usually characteristic of newborn babies with Kleefstra syndrome, this may not be obvious: in four babies, no floppiness was observed.

New Concussion Warning Label Is Not A Big Score For NFL Players Suing Helmet Manufacturer Riddell

New Concussion Warning Label Is Not A Big Score For NFL Players Suing Helmet Manufacturer Riddell

Some retired NFL players are suing helmet company Riddell for their helmets not protecting against concussions and, more importantly, for not warning about the long-term risks of concussions on the helmet itself. A new warning label on Riddell's helmets is not as big of a change as these NFL players hoped.

Riddell, the official helmet manufacturer of the NFL, is being sued by many retired football players for failing to effectively protect them against the long-term risk of concussions and lying about the company’s ability to reduce the risk of head trauma. Since being named as a defendant, Riddell appears to have taken measures to provide better information to consumers, including attaching stickers on products that contain a warning label (as displayed to the right).

The first statement on the warning label is in bold and all-caps and reads, “NO HELMET CAN PREVENT SERIOUS HEAD OR NECK INJURIES A PLAYER MIGHT RECEIVE WHILE PARTICIPATING IN FOOTBALL.” While many would think that the use of this label is a sort of admission that these types of concussion warning labels should have been in use in the past (and indicating that Riddell should be held liable for damages), getting the label admitted into evidence is complicated and may not be an easy score for the retired football player Plaintiffs.

On July 17, 2012, the Plaintiffs filed their Amended Master Administrative Long-Form Complaint in the United States District Court – Eastern District of Pennsylvania, where the Judicial Panel on Multi District Litigation decided to consolidate and transfer the many individual concussion-based claims. U.S. District Courts adhere to federal rules. Rule 407 of the Federal Rules of Evidence is titled, “ Subsequent Remedial Measures” and states,

“When measures are taken that would have made an earlier injury or harm less likely to occur, evidence of the subsequent measures is not admissible to prove:

• negligence;
• culpable conduct;
• a defect in a product or its design; or
• a need for a warning or instruction.

But the court may admit this evidence for another purpose, such as impeachment or–if disputed–proving ownership, control, or the feasibility of precautionary measures.”

The Plaintiffs have alleged that the Riddell Defendants inaccurately marketed their Revolution helmet as being safer in reducing the risk of concussions by 31% and that the Riddell Defendants failed to warn any Plaintiff or retired player of the long-term health effects of concussions. It is unlikely that the Plaintiffs would be able to introduce the new concussion warning label into evidence to prove either of those 2 claims. Further, the Plaintiffs have included counts for 1) Strict Liability for Design Defect, and 2) Strict Liability for Manufacturing Defect, and based upon the exclusions in Rule 407, above, Plaintiffs would similarly be barred from introducing the warning label.

Perhaps the only way that the Plaintiffs are able to include the concussion warning label on their Exhibit List is to argue that it should be admitted to prove the feasibility of precautionary measures. This is typically a tricky area for courts dealing with manufacturer liability. If the court were to allow the concussion warning label into evidence to prove the feasibility of precautionary measures, the judge must instruct the jury that it is only on the issue of feasibility that they should consider the Riddell Defendants’ new warning on their helmets, and must do everything possible to prevent the Plaintiffs from using the label to prove negligence (which the Plaintiffs include as a count against the Riddell Defendants) or any of the other non-admissible bullet points as stated in the Rule. The problem with the introduction of the label for the limited purpose of determining feasibility of precautionary matters is that it opens the door to abuse by the Plaintiffs to prove other claims (such as negligence and design defect), which technically constitutes reversible error should the Riddell Defendants choose to appeal an unfavorable verdict. Based on that alone, my thought is that the new concussion warning label, if added to the Plaintiffs’ Exhibit List, will be stricken by the Court and not introduced to a jury.

Read more here

New Scan May Cause A ‘Paradigm Shift’ in Epilepsy Research

A new non-invasive scan taken directly after a seizure may change the way epilepsy is researched.

An innovative new study merges engineering and clinical expertise to develop a revolutionary method to diagnose and treat epilepsy patients.

Researchers from the University of Minnesota and the Mayo Clinic believe a new type of non-invasive brain scan — taken immediately after a seizure — will provide advanced insight into possible causes and treatments for epilepsy patients.

The new findings could benefit millions of people who are unable to control their epilepsy with medication.

The research is published online in the journal Brain.

Researchers say the study resulted in several significant findings:

• Important data about brain function can be gathered through non-invasive methods, not only during a seizure, but immediately after a seizure;
• The frontal lobe of the brain is most involved in severe seizures;
• Seizures in the temporal lobe are most common among adults. The new technique used in the study will help determine the side of the brain where the seizures originate.

“This is the first-ever study where new non-invasive methods were used to study patients after a seizure instead of during a seizure,” said Dr. Bin He, a biomedical engineering professor in the University of Minnesota’s College of Science and Engineering and senior author of the study. “It’s really a paradigm shift for research in epilepsy.”

Epilepsy affects nearly 3 million Americans and 50 million people worldwide. Although medications and other treatments help many people of all ages who live with epilepsy, about 1 million people in the U.S. and 17 million people worldwide continue to have seizures that can severely limit their lives.

Medical researchers have always faced the challenge of determining the part of the brain responsible for the seizures. Learning the specific site of the seizure helps physicians determine the best possible treatment.

In the past, most research has focused on studying patients while they were having a seizure, or what is technically known as the “ictal” phase of a seizure. Some of these studies involved invasive methods such as surgery to collect data.

In the new study, researchers used a novel approach by studying the brains of 28 patients immediately after seizures, or what is technically know as the “postictal” phase of a seizure.

They used a specialized type of non-invasive EEG with 76 electrodes attached to the scalp for gathering data in contrast to most previous research that used 32 electrodes. The researchers used specialized imaging technology to gather data about the patient.

The findings may lead to innovative means of locating the brain regions responsible for seizures in individual patients using non-invasive strategies.

Read more here

Study: Sleep Loss Makes It More Difficult to Choose Healthy Foods

A new study claims that people who are deprived from sleep find it difficult to make healthy food choices. This may explain the link between sleep deprivation and obesity.

Sleep loss impairs the brain’s ability to integrate appetitive information, and thus makes it more difficult for people to choose healthy foods to eat, according to a study presented at the 26th Annual Meeting of the Associated Professional Sleep Societies.

After a night of sleep deprivation, brain activity in study participants’ frontal lobe was impaired, and networks governing appetitive food stimulus evaluation appeared to be disrupted.

Stephanie Greer, a graduate student at the Sleep and Neuroimaging Laboratory at the University of California, Berkeley, conducted an imaging study to investigate the effect of sleep deprivation on central brain mechanisms underlying food appraisal. She and her colleagues recruited eight healthy adults ages 18 to 25, eight of whom were female, for two MRI sessions during which they rated their current desire for 80 foods. The first session was conducted after a night of normal sleep, and the second was conducted after 24 hours without sleep in a repeated-measures cross-over design. The investigators took subjective taste ratings from the participants after each scan.

“Sleep deprivation selectively and significantly impaired activity in high-order regions known to integrate affective signals, specifically the right anterior insula and dorsal anterior cingulate, in response to desired foods,” said Ms. Greer. She and her colleagues observed equivalent reactivity in classical subcortical reward regions and basic taste-perception networks, such as the medial orbital-frontal cortex, the middle insula, and the caudate.

In addition, sleep deprivation decreased the correlation between food desire and taste ratings. This result, which was consistent with a failure of appetitive signal integration, indicated a decreased ability to determine food desire based on taste value. The researchers did not observe any differences in mean ratings of food desire or taste value.

“These results shed light on how the brain becomes impaired by sleep deprivation, leading to improper food choices,” said Ms. Greer. The study findings also provide a mechanistic brain link between sleep loss and obesity and may be valuable to public health researchers, she added.

Read more here

The Best Ways To Integrate Special Needs Students

I found this report on NPR. I hear parents talk about special education issues every day. Accommodations and modifications are a difficult process for all. Children with seizures, autism, cerebral palsy, ADHD and other neurodevelopmental problems are entitled to education. Parents expect a full range of services. In general, schools have motivated and highly professional personnel and accurate services. At the same time, schools have limited budgets for personnel, occupational, physical and speech therapy.  Its a difficult situation.  A physician can help. JR

The Best Ways To Integrate Special Needs Students

May 2, 2012

Budget cuts in many school districts have some parents and teachers questioning whether they have the resources to support their students. NPR education correspondent Claudio Sanchez and Thomas Hehir of Harvard University talk about how to integrate special needs students into mainstream classrooms.

JENNIFER LUDDEN, HOST:

This is TALK OF THE NATION. I'm Jennifer Ludden, in Washington. A troubling new video has reinvigorated the debate over special needs education. A father was told his special needs child was unruly, so he sent him to school wearing a wire. On the recording, his son is harassed and mocked by a teacher and aide in a special needs classroom.

The video is only the latest example of a widespread sense of frustration about special education. What to do? Advocates often want special needs students to get their own classes, but school districts say that's expensive, and certainly in a time of budget cuts, mainstreaming is on the rise.

If you're the parent or teacher of a special needs student, what works? Our number is 800-989-8255. Our email address is talk@npr.org. And you can join the conversation at our website. Go to npr.org and click on TALK OF THE NATION. Later in the program, why some schools are forcing kids off their bikes and into cars.

But first, best practices for mainstreaming special needs students. Joining me now is NPR's education correspondent Claudio Sanchez here in Studio 3A. Hi, Claudio. Welcome.

CLAUDIO SANCHEZ, BYLINE: Good to be here.

LUDDEN: So this is a trend that's been growing in public schools, but mainstreaming may not be a term that everyone's familiar with. Can you just tell us what it means?

SANCHEZ: Mainstreaming means that a child's instruction takes place in a classroom with non-disabled kids, regular kids, a decision based often on the special needs of that child. So, yes, there's an attempt to have this kid feel inclusive, be inclusive, but often it has to be tailor-made. That's where something very crucial here has to happen, and that is that an individual education plan be designed for this child, which calls for special accommodations, certainly special attention if necessary.

And this is all, of course, in the law, the 1975 law that actually was originally called the Education for All Handicapped Children's Act. It later became the Individual Disability Education Act, and that was, for the most part, kind of reauthorized in 1990.

LUDDEN: So, for decades, there's been this effort - so there was a sense beforehand that special needs kids were kind of shunted away and kept out of sight. Parents wanted them in the mainstream. And yet, as I understand it, there have been a lot of bad experiences in these mainstream classes.

SANCHEZ: And remember, they weren't just shunted away. They were literally kept out of school. I mean, for many, many years, these kids were warehoused somewhere else. Schools didn't deal with them. You know, it took several legal cases and challenges to that, most - especially in 1972 in Pennsylvania, which literally led to the creation of the law.

But you're right. The problem has been money, in many ways. You know, there's been an acceptance that these kids can learn, should be mainstreamed, but the money issue is huge. The federal government, when it authorized this law, more recently said we're going to contribute 40 percent - this is Congress talking - 40 percent of the funding for special education.

To this day, it's never been more than 18 percent. So that means that local and state education folks have to come up with the money somewhere, and we're talking about tens of thousands of dollars for every child, every year. So it's a very - it's a very difficult problem for schools because they don't have the money.

LUDDEN: And I guess more so now with - we've seen so many cuts at local school districts.

SANCHEZ: Exactly. And certainly in this time of austere and very limited budgets, I mean, where do you go? The federal government is not coming up with more money, believe me. States are obviously cutting left and right. So, I mean, often, it comes down to litigation on the part of parents. And if you have a good attorney, sometimes they get money out of the district to pay for these services or to put the child in a private program.

LUDDEN: So this terrible, painful video has surfaced of this child's experience. But I take it that's not a surprise to people who look at this field, that there's been a series of studies recently that show this these kinds of instances.

SANCHEZ: Yes, although I would say that the - you know, it's difficult to really document, certainly, every instance of abuse, but they are pretty common. You know, there are cases - there was on in Georgia, a 13-year-old boy committed suicide after being sent to an eight-by-eight, concrete-block time-out room in Gainesville, Georgia, at the public school there.

For students, this was a place that they put students in for behavioral problems. Then there was - you know, there are these famous screaming rooms that some schools have where teachers put kids when they're acting out, when they're out of control. And, you know, there was that famous case, I forget where, it may have been Kentucky, where a child was - who was misbehaving, a special ed kid, had been found stuffed in a duffel bag.

I mean, you know, you hear about these things, and you say this can't be. This has to be the exception to the rule. But you'd be surprised how often - I mean, some of these things aren't even reported, but it happens.

Transcript and link to story here

Sleepless Nights May Put The Aging Brain At Risk Of Dementia

 Memo to doctor self: good advice to help initiating sleep. JR

Copyright ©2012 National Public Radio. For personal, noncommercial use only. See Terms of Use. For other uses, prior permission required.

text size A A A

Heard on Morning Edition

August 27, 2012 - DAVID GREENE, HOST:

Sleepwalking is not the only form of disrupted sleep. As we age, our sleep patterns change and many people have problems falling and staying asleep. Now researchers have found a link between disrupted sleep and dementia, as NPR's Patti Neighmond reports.

PATTI NEIGHMOND, BYLINE: Psychiatrist Kristine Yaffe runs a clinic for people at risk of developing dementia. She's at the University of California, San Francisco. She says many of her older patients say they just don't sleep well.

DR. KRISTINE YAFFE: Either have difficulty falling asleep, waking up on and off throughout the night, feeling tired in the day or, you know, having to nap a lot in the day. Those kind of things are very common....NEIGHMOND: First step, control outside stimulation.

ANCOLI-ISRAEL: And what this therapy says is you're not allowed to do anything in bed but sleep. Sleep and sex, but nothing else. You can't pay your bills in bed, you don't take your computer or your iPhone or your iPad to bed with you, you don't watch television in bed, you don't read in bed.

NEIGHMOND: And if you don't fall asleep in about 20 minutes, get out of bed. Watch or read something relaxing, and after 20 minutes, try again. And the clock, get rid of it.

ANCOLI-ISRAEL: You know, the first thing you do when you wake up at night is you look at the clock. In order to look at the clock, you have to open your eyes, maybe lift your head, but what's worse is you have to take yourself from transitional sleep to full awakening to comprehend that it's 1:10 in the morning and you want to be asleep.

NEIGHMOND: If you need the alarm, cover the clock or put it under the bed. You'll still hear it go off.

Now, there's another sleep difficulty faced by older adults. Natural body rhythms change.

ANCOLI-ISRAEL: Sleep is controlled in part by our core body temperature. Body drops at night - that's when we get sleepy, it rises in the morning hours, and that's when we wake up.

NEIGHMOND: And that changes at different times of our lives. Teenagers' body temperature drops late in the evening, so they don't get tired till around midnight and don't naturally wake up till late morning.

ANCOLI-ISRAEL: For older adults, it's the opposite. Their body temperature drops really early in the evening, around 8 o'clock and rises really early in the morning, about four. So, if your lifestyle allows it, go to bed early and when you wake up, get up.

NEIGHMOND: For those who don't want to do that, Ancoli-Israel suggests get lots of light.

ANCOLI-ISRAEL: Light is the strongest cue that our body has to know when to go to sleep and when to get up. And lots of light exposure during the day helps us have a strong biological clock.

NEIGHMOND: And the best source of light? The sun. A late afternoon or early evening walk, when the sun is still out, is the best. That delays the circadian rhythm and helps people stay alert later on in the evening and sleep longer in the morning.

More here

Idiopathic toe walking: Insights on intervention

As researchers explore the possibility that idiopathic toe walking has an underlying neurologic cause, clinicians continue to refine treatment strategies to keep ITW patients off their toes. Orthotic devices play a key role, with lower-profile devices growing in popularity.

By Emily Delzell

New research suggests that idiopathic toe walking, long considered a gait pattern that occurs in the absence of other abnormalities, may have an underlying neurological cause. Investigators need to under­take much more research to confirm this early hypothesis, but, until more is known, researchers suggest that clinicians be alert for subtle signs of other sensory and motor skills issues in children with the diagnosis.

It’s normal for toddlers to walk on their toes as their gait devel­ops, but when this pattern persists in children older than two years, it’s a cause for concern. Toe walking can be the first sign of neuro­log­ical or developmental condition such as cerebral palsy or autism spectrum disorder.¹ In addition, bilateral toe walking is often seen in children with congenital muscular dystrophy and global de­velopmental delay. (Unilateral toe walking is typically the result of trauma.)²

“Ultimately, the diagnosis is given when there is no medical reason for toe walking,” said Cylie Williams, PhD, a podiatrist with Southern Health, Cardinia Casey Community Health Service, Cran­bourne, Australia.

Williams and her colleagues have developed the Toe Walking Tool, a validated 25-item questionnaire that can help practitioners identify otherwise healthy children who toe walk as well as reveal risk factors for other medical conditions that may require further evaluation from a specialist.²

Although Williams’ tool is used to rule out these well-charac­terized conditions, her recent work has lead her to suspect the gait pattern may not be truly idiopathic, but instead, “the result of some very mild neurological changes we still don’t understand.”

Williams noted that several studies^3-5 have described increased sensitivity to vibration and hypersensitivity in the hands or feet in children and adults with Asperger syndrome and autism spectrum disorder and that gait changes, including toe walking in children, are linked to these disorders.⁶

In 2010 Williams and her colleagues completed a literature review on the relationship between toe walking and sensory processing dysfunction.⁷ They found only a handful of studies that discussed a potential link between ITW and sensory processing issues, but noted that clinical observations and anecdotal reports of the possibility of such a connection were becoming more common.⁷

To test whether children diagnosed as idiopathic toe walkers might also demonstrate changes in sensory processing, Williams and her colleagues recruited 30 healthy children aged 4 to 8 years who were not toe walkers (NTW) and 30 children in the same age range who the researchers identified as current idiopathic toe walkers using the exclusionary toe-walking tool.

They measured the children’s vibration perception threshold (VPT) in the right hallux using a vibratory sensory analyzer that delivers a frequency vibration of 100 Hz (amplitude range, 0-130 µm) through a Teflon-coated pin mounted in a footplate (Figure 1). The vibration mimics the everyday tactile input that allows the brain to sense fine surface texture changes, which, in the feet, play a key role in protection and proprioception.⁸

The results, e-published in March by the Journal of Child Neuro­logy, showed that the children in the toe-walking group had a significantly lower VPT than those in the NTW group (mean, 1 µm vs 1.8 µm; P = .001).

Figure 1. Foot in position for vibration perception analysis by Williams et al. (Image courtesy of Cylie Williams, PhD.)

“The vibration study paper highlighted a difference in tactile sensory perception, or heightened feelings of touch, that the children with ITW had, indicating that these children were perhaps more sensitive in some way to touch,” Williams said. “We tested this as part of a larger study of the motor skills and sensory processing abilities of children who have an ITW gait. The rest of the results are being finalized for publication, but we found that children who had an ITW gait had problems with some specific gross motor skills and displayed some unusual behavioral changes as a result of different sensory input. This result indicated there might be some immaturity or difference in the way the children who have an ITW gait process sensory input.”

During data collection for the larger study the Australian researchers turned up an unexpected finding that also hinted at some neurological basis for ITW.⁹ They recorded the preferred hand of each child in the ITW and NTW groups and found that only 10% of the children in the NTW cohort preferred their left hand, a result that is in line with population norms.⁹ In contrast, 33% of the children in the toe-walking group preferred their left hand.⁹ Previous research has linked left handedness to difficulty with spatial tasks and dyslexia.^10-12

“The left-handedness result also feeds into this [the theory that children with ITW may have a mild neurological condition], and, while the children may be genetically left handed, there is also the possibility that the left handedness is neurologically based,” Williams said. “This result again points to the ITW gait being the result of some mild neurological impairment. The study on this cohort of children who appeared to be neurologically normal but toe walked found that there were all these interesting little signs that, in fact, the toe walking may actually be the result of some very mild neurological changes—but we’re still not sure what these might involve.”

http://www.lowerextremityreview.com/article/idiopathic-toe-walking-insights-on-intervention

Anatomy of a 60 Minutes hidden-camera interview with stem cell scammers

Anatomy of a 60 Minutes hidden-camera interview

By

60 Minutes Overtime Staff

These days, a hidden-camera interview isn't something 60 Minutes does often. Our bosses believe that this reporting technique is only justified in special circumstances, and as you'll see in this week's Overtime video, it's also exceedingly difficult to pull off.

But Scott Pelley's story this week on stem cell scams was the perfect reason to dust off our arsenal of potted-plant cameras.


"This is a classic sort of 60 Minutes story that's been done around here for more than 40 years," Pelley told us. "The person you've been investigating walks into the room and finds out, quite to his surprise, that he's on 60 Minutes."


In this case, the person under investigation was an Alabama doctor named Dan Ecklund. His medical license was revoked in 2005, but that didn't keep him from starting a company in Ecuador to peddle stem cell treatments online as a fraudulent cure-all for incurable diseases.

After months of investigation, Pelley and his team decided to surprise Ecklund in a Florida hotel suite and record the interview with cameras hidden throughout the room.


"It was the only way that Dr. Ecklund was ever going to do an interview with us," Pelley said. "We have all of these questions that need to be asked, and we felt it was terribly important that we have an opportunity to sit down and ask him."


So, producers Michael Rey and Oriana Zill spent two days in the hotel suite with a team of undercover camera specialists, carefully rigging the room with small cameras and developing a plan. (If you've watched any mobster movies, you won't be surprised by the lamp cam in this video.)


Ecklund came to the suite expecting to meet with a family seeking his medical help for their son with cerebral palsy. Soon after Ecklund arrived, Pelley emerged and said, "I'm Scott Pelley from "60 Minutes."


Ecklund's response? "Oh, great."


Although the cameras were hidden, Pelley immediately informed Ecklund he was being recorded.


"If he'd walked into a room with television cameras in it, he wouldn't have stayed," explains Pelley.


At that point, the team didn't know what Ecklund would do. Would he run? Would he stay and explain himself? To see a breakdown of the action and a hidden-cam tour, check out this week's behind-the-scenes video, produced by David Rubin.

link here

How to prepare to see a neurologist....

This is from the American Academy of neurology. It is oriented to adults. I have added some comments that are pediatric specfic. JR

How to prepare to see a neurologist....

Preparing for an Office Visit

Diagnosing and managing your neurologic disorder is a partnership between you and your neurologist. Much of this partnership relies upon sharing your health information.

You want your doctor to know all about your symptoms, medical history, and any prior test results. This way he or she can be more effective in diagnosing and treating your disorder.

Likewise, you want to get answers to your questions so that you and your loved ones can better understand the disorder and treatments, and how they will affect your daily life.

You can get the most out of your doctor visit if you are fully prepared. Most people visiting a neurologist want and need to have the following questions answered:

• What type of disorder do I have?
• How will this disorder affect my health?
• What is the treatment and what will it do?
• How will this disorder affect my daily life and activities? School? Future?

When answering these questions, you and your neurologist will be exchanging a lot of information. It often helps to have a family member or friend with you to listen, take notes, or ask questions.

You might think about your visit with the neurologist as having several stages. During each stage there are actions which can help you be prepared.

Even if you have already met with your neurologist, these tips can be helpful for future visits or if you are referred to other medical specialists.

Pre-visit Planning Activities

• Write down the questions you would like to ask. List the most important questions first. It might be helpful to get a small spiral-bound notebook or folder to keep these questions and answers in one place and so you can add information or questions throughout your treatment.


• Ask a relative or friend to come with you to the visit. A second set of ears may be helpful. You will appreciate the assistance with your child to minimize distraction.


• Gather all your medications in a bag to bring to your visit. Or write down in your notebook their names, dosage, and how often and what time you take them. Be sure to include supplements and over-the-counter medications.


• Prepare your "health history" (previous illnesses, hospitalizations, allergies, etc.) and bring it to the visit. You may want to ask your neurologist if there is a form you can complete prior to the visit. You may also want to bring your family members' health histories. Their health information may help the neurologist diagnose your condition.


• Bring other medical information and test results, such as lab work, x-rays, and MRIs. For radiological studies, ask the office if they prefer copies of the films or if reports are adequate. You may also ask your primary doctor to send records directly to your neurologist's office.


• Bring a list of the doctors you want your neurologist to update about your medical condition. Be sure to include their telephone, fax numbers, and addresses.


• Bring your insurance card and referral, if needed.

• Bring your child to every visit.  While it makes sense that families should be able to talk without distraction, there might be points of physical exam that need to be clarified. Also, your child will benefit some explanation of planned tests and treatment that is appropriate for their developmental level. 

• Dress the child in loose clothing that is easy to change. 
• Bring snacks, and extra diapers.
• Dont forget toys and books to engage the child.

• Keep in mind that neurology is complex and that there are often emergencies. Neurologists are nice people who will not say no to callers in distress. We will not rush people through bad news.  So, doctors run late. Plan this in your schedule

At the Office

• Plan to arrive early to complete any forms that may be needed. If you do not understand the questions or forms, ask for help—it is your right to have information explained to you. Office visits for children always take longer than adults because the needs of parent AND child are addressed. 


• Give the neurologist any information about your symptoms or condition, even though you may feel that it may be unimportant or embarrassing.


• Take notes or have your companion take notes on what the neurologist tells you. If you don't understand the doctor, don't be afraid to ask for more information.


• Ask the doctor the questions you wrote out during your pre-visit planning activities, even if you may feel the questions are not important.


• Ask for handouts or Internet information that you can share with your family or review when you are at home.


• Make a follow-up appointment, if necessary.


• Know what the next steps are in your care.


• If your neurologist prescribes medication, make sure you fully understand:
• What has been prescribed and what it should do for you
• If there is a generic substitution that is acceptable
• Exactly when and how long you are to take your medication(s)
• The potential side effects of the medications and what to do if they occur

Back at Home

• Review the information you got from the neurologist's office. If you can't remember or don't understand something you were told, call the office to get the information you need.


• Follow the neurologist's instructions. Managing your disorder is a partnership between you and your neurologist.


• Make sure any medication you get at the pharmacy or through your mail order pharmacy benefits plan is what has been prescribed for you.


• Call your neurologist's office if:
• There are any complications or changes in your condition
• You experience any side effects from the medications
• You need to follow up on your test results

More here 

Benefits of hypothermia for infants continue through early childhood

NIH study shows increased survival from treatment for oxygen deficiency at birth.  I have set up these protocols.   The data is clear that  The treatment  works  and  and I have seen remarkable outcomes.   The protocols need to involve neurology because of the high risk of  subtle seizures and the need for cervical examinations by expert.  One needs to ask if this is a standard of care in 2012.  JR

Benefits of hypothermia for infants continue through early childhood

A treatment to reduce the body temperatures of infants who experience oxygen deficiency at birth has benefits into early childhood, according to a follow-up study by a National Institutes of Health research network.

Children who received the hypothermia treatment as infants were more likely to have survived to ages 6 and 7, when they were evaluated again, than were children who received routine care, the study found. They were no more likely than the routine care group to experience a physical or cognitive impairment, it said. The report appears in the New England Journal of Medicine.

“The findings show that the use of this cooling technique after birth increases the chances of survival, without increasing the risk of long-term disability,” said senior author Rosemary D. Higgins, M.D., of the Pregnancy and Perinatology Branch of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

The study was conducted by Seetha Shankaran, M.D., of Wayne State University in Detroit, Dr. Higgins, and 25 other researchers in the NICHD Neonatal Research Network. In addition to NICHD, funding was also provided by the NIH's National Center for Research Resources and the National Center for Advancing Translational Sciences.

Infants born at term may fail to get enough oxygen, from blood loss or other birth complications. Oxygen deprivation during the birth process is called hypoxic-ischemic encephalopathy, or HIE. In severe cases of HIE, death rates can reach 50 percent. Survivors often sustain brain damage, which can result in cerebral palsy, cognitive impairment, or hearing and vision loss. Even if they do not experience detectable brain damage, children who experience HIE at birth are at higher risk for learning disabilities, language delays, and memory deficits. Severe oxygen deficiency at birth is also known as birth asphyxia.

The current study was in follow up to an earlier study, conducted when the children were newborns and had received the body cooling treatment shortly after birth. That earlier study found that infants who received the cooling treatment were less likely to die or to develop moderate or severe disability than were the infants who received routine care. The original study assessed children's movement and cognitive abilities, hearing, and vision when they were 18 to 22 months old.

The study authors noted that neonatal intensive care units around the world have adopted this cooling technique to reduce the risk of death and disability among full-term infants who show signs of the brain dysfunction indicating oxygen deficiency.

“Testing at 18 months can identify major delays in a toddler's growth or brain development, but can't identify some of the more subtle cognitive or physical impairments that might become apparent in an older child,” Dr. Higgins said. “This follow-up study confirms the original finding, showing that children who received the cooling treatment were more likely to survive, and that the survivors were no more likely to have a disability than the children in the untreated group.”

The 208 children in the study were diagnosed with HIE within 6 hours of birth and treated in newborn intensive care units in the network. They were given the usual intensive care or treated with the body cooling technique. With this technique, cool water circulates inside a waterproof blanket beneath the infant. The cool water reduces the infant's temperature as low as 91.4 degrees Fahrenheit, and maintains it there 72 hours, after which caregivers allow the infant's body temperature to return to a normal.

To conduct the current study, the researchers analyzed data from follow-up visits conducted when these infants had turned 6 or 7 years old. The researchers compared rates of death and disability among those who got the cooling therapy and those who had received the usual intensive care. Mortality rates reflected the number of children who died between birth and age 7. The study found a 28 percent mortality rate in the hypothermia group, compared with 44 percent rate in the usual care group.

The researchers calculated the number of deaths and cases of severe disability as a single combined outcome. In the cooling group, the combined rate was 41 percent, compared with 60 percent in the usual care group. Severe disability involved motor function, cognitive ability, and vision. Rates of cerebral palsy, blindness, and epilepsy were similar between the two groups.

“Before the advent of this cooling treatment in 2005, doctors couldn't treat HIE

How to get kids' sleep schedules back on track for school

I recommended that families start this to 3 weeks ago.  But, here we are.  see my advice at the end of this post...JR



How to get kids' sleep schedules back on track for school

This article offers great tips for getting kids back on a regular sleep schedule for school. There is also a great slideshow on the site itself.

After a summer filled with camp, amusement park trips and swim lessons, switching back to that 6 a.m. morning routine is a rude awakening -- literally.

"A lot of kids get out of a regular schedule in the summertime,” Dr. Dennis Rosen, M.D., associate medical director of the Center for Pediatric Sleep Disorders at Boston Children’s Hospital, tells The Huffington Post, “shifting their internal clocks later, to the point that they’re out of sync with the external clock.”

Those later summertime bedtimes lead to later wake up times for school-aged children, too, he explains, especially teens. But sleeping until noon only causesproblems when September rolls around.

“Waking up earlier becomes quite difficult, almost akin to jet lag,” says Rosen. Not only does it feel crummy, he says, but because sleep plays an important roll in processing and consolidating memories, this seasonal version of jet lag can have an effect inside the classroom as well.

Unlike adults, who need around seven to nine hours of sleep a night, children of different ages require a wide range of sleep amounts to be at their best. Preschoolers typically need about 11 to 13 hours of sleep a night, kids up to 12 years old need 10 to 11 hours of sleep a night and teens need about 8.5 to 9.25 hours, according to the National Sleep Foundation.

But the bell rings at most schools in the U.S. at 8 a.m., HuffPost Education reported in May, and 20 percent of kids and teens must report to first period by 7:45 or before, making it difficult to hit the hay early enough to log the recommended winks.

That’s part of the reason a number of sleep advocates have been pushing for later school start times, a move that would not only allow children and teens to get more -- and better -- sleep, but may also aid learning, boost memory and improve grades and overall performance.

So how can you help your children get their sleep on track in time for headingback to school? Many of our favorite sleep rules still apply: Make your child’s bedroom a peaceful environment for sleep only. Take any electronic gadgets out of the bedroom, and keep it cool, dark and quiet. But there are some summer-specific methods the experts suggest, as well.

Read more here

Children  and teenagers get a circadian rhythm disorder at this time of year called to lead sleep phase  syndrome.  In essence, this is jetlag without the fun of travel.  

Their brain clock is set to go to sleep at a certain time.   This time will not change just because a parent so so.  

 Here is what will happen this week. If your child is set to go to sleep at midnight, they will continue to go to sleep at a late hour. Then because of school, they will be  awakened at 6 or 7. The 1st day they will drag. They may be emotional. They may be inattentive. If they are a set up for ADHD, headaches, tics, seizures,  you may see these increase.

If you  tell your child to go to bed at 9 PM but they have been going to sleep at midnight all week, don't expect a miracle. They are jetlagged by 3 hours.

Have some realistic and gradual expectations.  You need to set up your child to be physiologically ready to accept behavioral change.

 Also,  many people are not aware that the tendency to stay up late is the natural state of the young person's brain.  They live in a 25 hour world.  Unfortunately,  schools still function in a 24-hour world.

Like jetlag the principles of treating are the same.   You need to be awake during the day and sleep when the sun goes down.

So,

• Get your child or teen up at his regular school time this weekend.  Keep them up all day and do not allow napping until the regular bedtime.  
• Get them outside early in the day to expose them to natural bright light. 
• Do not allow  any gizmos that make light after sundown.
• Do not allow caffeine.
• Consistency is key.  Don't change schedules on the weekend.
• Please understand that sometimes this is a difficult problem to treat and medical intervention may be required. A  pediatric sleep specialist  can help. 

New device can provide relief from painful headaches and migraines

Scientists in London have created a small electronic device that when pressed against the neck for 90 seconds can alleviate the pain from painful headaches and migraines.

A battery-powered gadget the size and shape of an electric shaver may be a new way to treat painful headaches.

Studies suggest the device – which is held against the neck for 90 seconds – may reduce the severity of migraine and cluster headache attacks, and even prevent them.

Researchers say that for some patients the device may be as effective as drugs, without any negative side effects. It has also worked for patients who have not responded to drugs.

Results of the first trials are expected to show a 50 per cent reduction in symptoms in half of patients.

Both migraine and cluster headaches are significant health problems in the UK.

An estimated 5.6 million people have migraine attacks, on average once a month, with three times as many women as men affected. The cause is unknown, but levels of serotonin, the so-called feel-good chemical, drop during a migraine.

Although drug treatments are effective for many patients, they do not work for all and can have side effects.

Cluster headaches, in which the attacks occur in succession or ‘clusters’, are less common, affecting around one in 1,000 people and mostly men. The pain, usually around one eye or the temple, is described by sufferers as excruciating.

The new device, developed by US-based ElectroCore, generates electrical signals and is held against the right side of the neck on the skin above the pulse of the carotid artery. A conductive gel is placed on the device to increase its effectiveness.

A small wheel is used to adjust the stimulation until moderate muscle-twitching is felt, with that power maintained for 90 seconds. In severe cases, multiple applications may be required.

Exactly how it works is not clear. One theory is it increases levels of the neurotransmitters serotonin and noradrenaline, which reduces pain perception.

The device is being tested in the US and Europe, including a study of around 50 patients at London’s Royal Free Hospital and a site in Dublin.

The gadget is available in Europe for professional and home use, but a doctor’s authorisation is required. It costs £250 for a device with 150 treatments, and £150 for one with 50 treatments.

Read more here