Thursday, October 31, 2013

Halloween!!! A Full History.


Halloween is a holiday celebrated on the night of October 31.  The word Halloween is a shortening of All Hallows' Evening also known as Hallowe'en or All Hallows' Eve.

Traditional activities include trick-or-treating, bonfires, costume parties, visiting "haunted houses" and carving jack-o-lanterns. Irish and Scottish immigrants carried versions of the tradition to North America in the nineteenth century. Other western countries embraced the holiday in the late twentieth century including Ireland, the United States, Canada, Puerto Rico and the United Kingdom as well as of Australia and New Zealand.
Halloween has its origins in the ancient Celtic festival known as Samhain (pronounced "sah-win").
The festival of Samhain is a celebration of the end of the harvest season in Gaelic culture. Samhain was a time used by the ancient pagans to take stock of supplies and prepare for winter. The ancient Gaels believed that on October 31, the boundaries between the worlds of the living and the dead overlapped and the deceased would come back to life and cause havoc such as sickness or damaged crops.

The festival would frequently involve bonfires. It is believed that the fires attracted insects to the area which attracted bats to the area. These are additional attributes of the history of Halloween.
Masks and costumes were worn in an attempt to mimic the evil spirits or appease them.
Trick-or-treating, is an activity for children on or around Halloween in which they proceed from house to house in costumes, asking for treats such as confectionery with the question, "Trick or treat?" The "trick" part of "trick or treat" is a threat to play a trick on the homeowner or his property if no treat is given. Trick-or-treating is one of the main traditions of Halloween. It has become socially expected that if one lives in a neighborhood with children one should purchase treats in preparation for trick-or-treaters.
The history of Halloween has evolved.  The activity is popular in the United States, the United Kingdom, Ireland, Canada, and due to increased American cultural influence in recent years, imported through exposure to US television and other media, trick-or-treating has started to occur among children in many parts of Europe, and in the Saudi Aramco camps of Dhahran, Akaria compounds and Ras Tanura in Saudi Arabia. The most significant growth and resistance is in the United Kingdom, where the police have threatened to prosecute parents who allow their children to carry out the "trick" element. In continental Europe, where the commerce-driven importation of Halloween is seen with more skepticism, numerous destructive or illegal "tricks" and police warnings have further raised suspicion about this game and Halloween in general.
In Ohio, Iowa, and Massachusetts, the night designated for Trick-or-treating is often referred to as Beggars Night.
Part of the history of Halloween  is Halloween costumes. The practice of dressing up in costumes and begging door to door for treats on holidays goes back to the Middle Ages, and includes Christmas wassailing. Trick-or-treating resembles the late medieval practice of "souling," when poor folk would go door to door on Hallowmas (November 1), receiving food in return for prayers for the dead on All Souls Day (November 2). It originated in Ireland and Britain, although similar practices for the souls of the dead were found as far south as Italy. Shakespeare mentions the practice in his comedy The Two Gentlemen of Verona (1593), when Speed accuses his master of "puling [whimpering, whining], like a beggar at Hallowmas."
Yet there is no evidence that souling was ever practiced in America, and trick-or-treating may have developed in America independent of any Irish or British antecedent. There is little primary Halloween history documentation of masking or costuming on Halloween in Ireland, the UK, or America before 1900. The earliest known reference to ritual begging on Halloween in English speaking North America occurs in 1911, when a newspaper in Kingston, Ontario, near the border of upstate New York, reported that it was normal for the smaller children to go street guising on Halloween between 6 and 7 p.m., visiting shops and neighbors to be rewarded with nuts and candies for their rhymes and songs. Another isolated reference appears, place unknown, in 1915, with a third reference in Chicago in 1920. The thousands of Halloween postcards produced between the turn of the 20th century and the 1920s commonly show children but do not depict trick-or-treating. Ruth Edna Kelley, in her 1919 history of the holiday, The Book of Hallowe'en, makes no mention of such a custom in the chapter "Hallowe'en in America." It does not seem to have become a widespread practice until the 1930s, with the earliest known uses in print of the term "trick or treat" appearing in 1934, and the first use in a national publication occurring in 1939. Thus, although a quarter million Scots-Irish immigrated to America between 1717 and 1770, the Irish Potato Famine brought almost a million immigrants in 1845-1849, and British and Irish immigration to America peaked in the 1880s, ritualized begging on Halloween was virtually unknown in America until generations later.

Trick-or-treating spread from the western United States eastward, stalled by sugar rationing that began in April 1942 during World War II and did not end until June 1947.
Early national attention to trick-or-treating was given in October 1947 issues of the children's magazines Jack and Jill and Children's Activities, and by Halloween episodes of the network radio programs The Baby Snooks Show in 1946 and The Jack Benny Show and The Adventures of Ozzie and Harriet in 1948. The custom had become firmly established in popular culture by 1952, when Walt Disney portrayed it in the cartoon Trick or Treat, Ozzie and Harriet were besieged by trick-or-treaters on an episode of their television show, and UNICEF first conducted a national campaign for children to raise funds for the charity while trick-or-treating.
Jack O'Lantern
Trick-or-treating on the prairie. Although some popular histories of Halloween have characterized trick-or-treating as an adult invention to re-channel Halloween activities away from vandalism, nothing in the historical record supports this theory. To the contrary, adults, as reported in newspapers from the mid-1930s to the mid-1950s, typically saw it as a form of extortion, with reactions ranging from bemused indulgence to anger. Likewise, as portrayed on radio shows, children would have to explain what trick-or-treating was to puzzled adults, and not the other way around. Sometimes even the children protested: for Halloween 1948, members of the Madison Square Boys Club in New York City carried a parade banner that read "American Boys Don't Beg."

A jack-o'-lantern (sometimes also spelled Jack O'Lantern) is typically a carved pumpkin. It is associated chiefly with the holiday Halloween. Typically the top is cut off, and the inside flesh then scooped out; an image, usually a monstrous face, is carved onto the outside surface, and the lid replaced. During the night, a candle is placed inside to illuminate the effect. The term is not particularly common outside North America, although the practice of carving lanterns for Halloween is.In folklore, an old Irish folk tale tells of Jack, a lazy yet shrewd farmer who uses a cross to trap the Devil. One story says that Jack tricked the Devil into climbing an apple tree, and once he was up there Jack quickly placed crosses around the trunk or carved a cross into the bark, so that the Devil couldn't get down. Another myth says that Jack put a key in the Devil's pocket while he was suspended upside-down;
Another version of the myth says that Jack was getting chased by some villagers from whom he had stolen, when he met the Devil, who claimed it was time for him to die. However, the thief stalled his death by tempting the Devil with a chance to bedevil the church-going villagers chasing him. Jack told the Devil to turn into a coin with which he would pay for the stolen goods (the Devil could take on any shape he wanted); later, when the coin/Devil disappeared, the Christian villagers would fight over who had stolen it. The Devil agreed to this plan. He turned himself into a silver coin and jumped into Jack's wallet, only to find himself next to a cross Jack had also picked up in the village. Jack had closed the wallet tight, and the cross stripped the Devil of his powers; and so he was trapped. In both myths, Jack only lets the Devil go when he agrees never to take his soul. After a while the thief died, as all living things do. Of course, his life had been too sinful for Jack to go to heaven; however, the Devil had promised not to take his soul, and so he was barred from Hell as well. Jack now had nowhere to go. He asked how he would see where to go, as he had no light, and the Devil mockingly tossed him an ember that would never burn out from the flames of hell. Jack carved out one of his turnips (which was his favorite food), put the ember inside it, and began endlessly wandering the Earth for a resting place. He became known as "Jack of the Lantern", or Jack-o'-Lantern.
There are variations on the legend:
Some versions include a "wise and good man", or even God helping Jack to prevail over the Devil.
There are different versions of Jack's bargain with the Devil. Some variations say the deal was only temporary but the Devil, embarrassed and vengeful, refuses Jack entry to hell after Jack dies.
Jack is considered a greedy man and is not allowed into either heaven or hell, without any mention of the Devil.
Despite the colorful legends, the term jack-o'-lantern originally meant a night watchman, or man with a lantern, with the earliest known use in the mid-17th century; and later, meaning an ignis fatuus or will-o'-the-wisp. In Labrador and Newfoundland, both names "Jacky Lantern" and "Jack the Lantern" refer to the will-o'-the-wisp concept rather than the pumpkin carving aspect.

Halloween costumes are outfits worn on or around October 31, the day of Halloween. Halloween is a modern-day holiday originating in the Pagan Celtic holiday of Samhain (in Christian times, the eve of All Saints Day). Although popular histories of Halloween claim that the practice goes back to ancient celebrations of Samhain, in fact there is little primary documentation of masking or costuming on Halloween before the twentieth century. Costuming became popular for Halloween parties in America in the early 1900s, as often for adults as for children. The first mass-produced Halloween costumes appeared in stores in the 1930s when trick-or-treating was becoming popular in the United States.

What sets Halloween costumes apart from costumes for other celebrations or days of dressing up is that they are often designed to imitate supernatural and scary beings. Costumes are traditionally those of monsters such as vampires, ghosts, skeletons, witches, and devils. There are also costumes of pop culture figures like presidents, or film, television, and cartoon characters. Another popular trend is for women (and in some cases, men) to use Halloween as an excuse to wear particularly revealing costumes, showing off more skin than would be socially acceptable otherwise.

****Obtained from http://www.halloweenhistory.org/

Spina Bifida: What It All Means

So, all month long I have inundated you with facts, endless amounts of information and pictures on Spina Bifida and various diagnoses associated with SB. I did this in honor of October being Spina Bifida Awareness Month to inform you of this disability. Chances are very good that you know someone that has Spina Bifida and you didn't even realize it. It was a LOT of information to take in over the last 31 days. But it's so very important to know it all and educate yourselves whether you have SB, your child or another relative has it. Or if it's someone else that you know outside of your family. 

Spina Bifida is a serious disability. But it doesn't have to be a death sentence with the right care. It does not have to be a prison sentence for the one that has it. There are so many opportunities and experiences out there for people with SB (and other disabilities, too!). In fact, there are the same opportunities available for "people like us", as there are for non-disabled persons. We maybe just have to go about doing them or obtaining them in a different way. There's nothing wrong with that! We are ALL different in our own way any...even if we don't have a disability. 

Still, we can go to school and college. We can drive. Go on vacations to the beach. Have sex and have babies. Have relationships and get married (and divorced). OK, so maybe I should mentioned the relationships and marriage before sex and babies. But you get the idea. We can live alone and cook and clean our homes. We can go shopping. Some people with SB are gay, lesbian or transgender. It affects people of different races, genders and religions. 

I tell you all of this so that you know we aren't freaks! It's okay to befriend us....it's okay to ask us about our disability as long as you do it in a respectable educated way. Honest, it's okay. We know we have a disability! You won't shock us with your questions. I promise, we'd rather you ask us the questions instead of staring at us and not learning about it. We're "normal" people....just like YOU! And if you have gotten anything out of this month long awareness, I hope that it's just that. We're normal people too. 

Wednesday, October 30, 2013

Spina Bifida and Math Difficulties

The following article from  http://www.spinabifidaassociation.org/site/c.evKRI7OXIoJ8H/b.8277363/k.1D6C/Math_Difficulties_and_Spina_Bifida.htm is something that I wish my family and I had been aware of when I was growing up. Math was, by far, my most difficult subject all through school. And it's still one of my weak points now as an adult. 

Math Difficulties and Spina Bifida:

WHAT TO DO
Preschool
Many of the skills necessary for math begin to develop during the preschool years. There are many opportunities for preschoolers to learn these skills, both at home and school. For instance:
  • Practice counting with your preschooler throughout the day, such as the number of toys, pencils, chairs, etc.
  • Help your child learn to sort items by category by having him or her separate a group of items based upon shared characteristics (e.g., “Put the animal toys in this pile and put the baby dolls in this other pile. Let’s count how many baby dolls you have. Do you have more animal toys or baby dolls?”).
  • Help your child learn concepts such as more and less by comparing different groups of items. For instance, create two unequal groups of items (e.g., blocks, pennies, etc.) and help your child learn to identify the group of items that has more or less. Help your child to focus on “number” by having them double-check their decisions about “more” and “less” by counting objects to be compared. For example, young children often think that the longer display of items has “more” even when it has the same number or even fewer items than a shorter display.
  • Sharing of a pizza or other food by cutting it into equal pieces is an early form of division. Help your child to count the people, divide the food, and distribute it to each person one at a time.
  • Play fun counting games that happen to have math concepts embedded in them, such as Candyland®, dominos, etc.
  • Help your child to recognize and label simple shapes such as a square, a triangle, or a circle.
Kindergarten/Elementary School
Building number sense
Number sense is the building block for many areas of mathematics, including calculations. Number sense is the ability to understand the actual size of a number (e.g., 1 is smaller than 10, 10 is smaller than 100).
Children with Spina Bifida often have difficulty understanding the actual size of different numbers, and may have difficulty identifying how far apart numbers are from each other on a “mental number line.” For instance, it might be difficult for a youngster with Spina Bifida to identify which of the following two numbers (the number 9 or the number 19) is furthest away from the number 12. If this is a problem, children with Spina Bifida should practice making these kinds of comparisons using an actual number line in order to help them see the size of differences between numbers. Learning the size of differences between numbers on a number line helps build number sense in general.
Another way to build number sense is to find fun ways to learn different math combinations. A deck of playing cards (without the face cards) can be used to play “plus zero,” “plus one,” “minus one,” etc., and build understanding of number combinations along the way. For instance, state the game (i.e., “add zero to every card I show you”), and then quickly go through the deck, allowing the child to add zero to each number shown. This helps the child begin to memorize the idea of “adding on,” or “subtracting from,” and begins to make it more automatic.
Problems with number sense can also result in children with Spina Bifida having difficulty comparing different amounts of items and judging which group has more simply by looking at them. For instance, a child with Spina Bifida may have difficulty “eyeballing” two groups of dots (when comparing a group of 11 dots to a group of 17 dots) and quickly deciding which group has the most items without counting them. Children with Spina Bifida can improve their number sense by practicing these types of comparisons, and quickly determining which group has the most items simply by “how big it looks.” Children can then count the dots to check the accuracy of their answers (while also practicing adding skills).
As youth with Spina Bifida move further into elementary school, the need to develop number sense continues. Each grade presents larger number sets and concepts to be understood. One way of encouraging the ongoing development of number sense is to present the child with examples from real world situations. This helps students with Spina Bifida begin to understand “why” they are learning a particular skill. Teachers can support this by referencing the importance to math skills to different careers and by teaching meaningful student-centered problems (money, time, calendar, budgets, probability, data, etc) so students see the value in numbers and mathematics.
While classroom accommodations such as calculators can be helpful, many youth with Spina Bifida require special intervention to address their level of learning disability in number sense. Early screening of math skills is recommended for children with Spina Bifida. Problems with number sense can be identified at an early age (e.g., age 5 or 6).
Understanding math procedures
Math calculation includes many different procedures, and children with Spina Bifida often have difficulty learning to use these procedures (e.g., “borrowing,” “carrying,” long division). Even when youth with Spina Bifida learn these math procedures, many have difficulty remembering to use them consistently. Several approaches can be helpful in improving a child’s understanding of math procedures:
  • Set a goal of helping the youth with Spina Bifida develop an understanding of each math procedure, rather than simply learning the steps of doing them on paper.
  • Sometimes the use of “word pictures” can help develop an understanding of math procedures (“For this problem, I will be taking a smaller piece (i.e., 48) out of this larger piece (i.e., 92)”).
  • It is important that children with Spina Bifida spend time mastering math vocabulary, so that they recognize these terms when presented with “word problems.” Math vocabulary is best taught with a corresponding visual or example problem. Word walls, picture glossaries, journals and problems of the day are helpful tools to reinforce math vocabulary. A new math vocabulary word should be introduced with classroom discussion, visuals, and then reviewed often to ensure understanding.
  • 92
    -48
Many of the mistakes youth with Spina Bifida make when completing math procedures occur when they “go on cruise control” and do not keep the math concept “in mind” when doing the problem. For instance, when working on the problem to the right, the student might simply start subtracting numbers (e.g., 8-2; 9-4) without remaining aware that he or she is “subtracting this smaller number (i.e., 48) from this larger number (i.e., 92).”
  • Students with Spina Bifida should be encouraged to “think out loud” when completing a problem. Listening closely as the student “thinks out loud” will allow the teacher to quickly provide immediate error correction so that the student does not keep working in the “wrong direction.” This will also help the teacher assess conceptual understanding and awareness, and will help avoid careless “slips” and calculation mistakes. In math, it is very important to kindly correct errors immediately so that wrong procedures do not become habits.
  • Students with Spina Bifida should learn to “work backwards” (i.e., inverse operations) as a way of checking their work for accuracy. For instance, after completing the problem noted above, the student should add their answer to the number 48 in order to see if the sum equals 92.
  • Another way to self-assess the “reasonableness” of answers to math problems is to generate a second answer using “rounded” values. For instance:
    • 1. The student with Spina Bifida calculates an answer to the question “92-48=__”.
    • 2. The student then rounds each of the numbers of the question to the nearest “10” (e.g., 90 and 50).
    • 3. The student calculates an answer to the question using the rounded values (e.g., “90-50=40).
    • 4. The student’s answer to the original question is “reasonable” if it is somewhat above or somewhat below 40.
Early and periodic screening of math skills is recommended for students with Spina Bifida. Early problems with the acquisition of math procedures can be identified by 2nd or 3rd grade. However, as new math procedures continue to be learned as students advance in grade, close monitoring of math progress is recommended.
While not the focus of this tipsheet, there are additional intervention strategies for older youth with math difficulties which may also be helpful when they are presented with word problems, geometry, algebra, etc. These interventions and accommodations include direct explicit instruction, presenting information in a step-by-step manner, presentation of examples and models, low student:teacher ratio, and using meaningful manipulatives.
Curriculum and internet resources
Teacher resources:
  • Direct Instruction techniques found to be effective for math disability (Carnine et al 1991)
  • Explicit Instruction in procedural math skills & conceptual math knowledge (Fuchs et al 2001, 2002)
  • Peer mediated practice (Fuchs et al 2001, 2002)
  • Teacher modeling to improve math computation & problem solving (Rivera & Smith 1987)
  • Explicit instruction in “problem solving rules” (Fuchs et al 2003a&b)
  • Teaching word problems of a similar type (e.g., addition word problems with similar syntax) together to improve generalizability (Quilici and Mayer, 1996, Fuchs et al 2003a&b).
  • Teaching word problem solving specifically for children and adolescents with Spina Bifida (Coughlin & Montague, 2010)

Tuesday, October 29, 2013

Spina Bifida and Genetics

Many factors may cause Spina Bifida.

What is Spina Bifida?

Spina Bifida happens when the spine of a baby in the womb does not close all of the way. Every day, about eight babies who are born in the U.S. have Spina Bifida (SB) or a similar birth defect of the brain and spine. It occurs within the first month of pregnancy — often before most women even know that they are going to have a baby.
What causes Spina Bifida?
No one knows for sure. Experts think that both genetics (one or more genes) and the person’s environment might interact to cause Spina Bifida. It is possible that a person inherits multiple genes that make them susceptible to having Spina Bifida, but something in the environment triggers the Spina Bifida to develop.
Can Spina Bifida be prevented?
There is no way to prevent a baby from having a birth defect. It is only possible to reduce the risk. Studies show that the risk is reduced up to 70 percent when women take folic acid before and through the first three months of pregnancy. That is why all women who could possibly become pregnant should take 400 mcg (0.4 mg) of folic acid each day. It is especially important for them to take it one month before and through the first three months of pregnancy.
Women who have had a pregnancy with Spina Bifida should take even more folic acid. They should take 4000 mcg (4.0 mg) every day but should only get this much folic acid through a prescription. Also, folic acid should be taken under a doctor’s supervision. Do not raise the dose by taking more of a multivitamin because the high levels of the other vitamins are harmful.
Folic acid does not stop all cases of Spina Bifida. There is still a chance that some babies will have it even when women take the right amount every day.
Who is at risk for having a baby with Spina Bifida?
Any woman who is capable of becoming pregnant can have a baby with Spina Bifida. There are approximately 65 million women of childbearing age in the United States. Although people with a first-degree relative (parent, sibling) with Spina Bifida are 5 to 10 times more likely to have Spina Bifida than the greater population, there is no way to tell which women will have babies with Spina Bifida. Ninety-five percent of people with SB have no family history. Many things affect pregnancy, including genes, environment and certain illnesses or drugs. These include:
  • Prior pregnancy with Spina Bifida (the chance of the next pregnancy being affected is 20-50 times greater)
  • Family history of SB
  • Mother with insulin-dependent diabetes
  • Mother’s use of certain anti-seizure drugs
  • Mother with medically diagnosed obesity
  • Race and ethnicity. (SB is more common in Caucasians than African-Americans and more common in Hispanics than non-Hispanics.)
Other things may raise the chance of having a baby with Spina Bifida, but they are not as well understood. These things include:
  • Exposure to high temperatures in early pregnancy, such as prolonged high fevers
  • Extended hot tub or sauna use
  • Parental exposure to Agent Orange.

Can research help?

Experts know that genes play a role, and they are looking for the exact gene(s) that cause Spina Bifida. In time, research should clearly show how Spina Bifida develops so new treatments or even a cure can be developed. This research may also lead to new tests that help people or couples understand their chance for having a baby with Spina Bifida.
To learn more about your chance for having a baby with Spina Bifida or other neural tube defects, speak with a genetic counselor. This person can suggest tests, explain test procedures and results, present options and answer questions.
How can I find a Genetic Counselor?
To find a genetic counselor, contact:
National Society of Genetic Counselors
401 N. Michigan Avenue
Chicago, IL 60611
Phone: 312-321-6834
Fax: 312-673-6972
E-mail: nsgc@nsgc.org

***Information obtained from:

 http://www.spinabifidaassociation.org/site/c.evKRI7OXIoJ8H/b.8277085/k.5497/Genetics_and_Spina_Bifida.htm .   This information does not constitute medical advice for any individual. As specific cases may vary from the general information presented here, SBA advises readers to consult a qualified medical or other professional on an individual basis.

Monday, October 28, 2013

Spina Bifida and John Holter

In 1955, after seven years of trying, John and Mary’s first child was born. The birth of Casey Holter turned John Holter’s life upside-down and changed the course of medical history.
Agonizingly, Casey had spina bifida, a condition where the spine doesn't fully form and may be dangerously misshapen.
The condition was also causing hydrocephalus, a life-threatening build-up of fluid in the brain.
The fluid that surrounds the brain is called cerebrospinal fluid or CSF and acts as a fluid ‘bath’ which cushions and protects the delicate organ.
It is produced by a structure in the brain stem called the choroid plexus and circulates around the brain before being drained into the blood supply.
If the drainage system is blocked, however, it can lead to a dangerous build-up that can pressure, distort and eventually damage the brain beyond repair. If left untreated, it can be deadly.
In 1955, the only thing keeping Casey Holter alive was a twice daily procedure where a needle was inserted into the fontanelle, the soft spot on a baby’s head, and the excess fluid was removed with a syringe to reduce the pressure.
Eventually, Casey was given an operation by the neurosurgeon Eugene Spitz to insert a ball and spring valve that would, in principle, allow the fluid to drain into the blood supply, without letting anything dangerous from the blood wash back into the CSF.
Unfortunately, the valve was clumsy technology, and when inserted, it irritated Casey’s heart to the point where the young child had a heart attack and suffered permanent brain damage.
John Holter, then working as a technician in a hydraulics factory, asked Eugene Spitz about the details of the procedure. He was surprised that the problem, which seemed to him like a simple hydraulics issue, had not been solved.
He had noticed that when nurses inserted needles into certain types of medical tubing, leaks didn’t occur because the gap was water-tight under low pressure conditions.
But, like a teat on a baby’s bottle, when the pressure was high enough the gap opened and the fluid forced its way through. A perfect valve for releasing built-up CSF and preventing backwash.
Holter went home, sat in his workshop, and constructed the first version that very evening. It was a rough-and-ready rubber-tubing and condom prototype, but it worked.
While the principle was sound, Spitz noted that that the valve must made of a material that wouldn’t irritate the body, as this might cause the same problem that had brain-damaged his son.
Holter contacted Dow Chemical and was advised to use silicone, at the time, a newly developed material.
Holter had created a usable version within months. So quickly, in fact, that his son was still too weak from the last operation to have it installed.
It was first and successfully installed in another child, and then in March 1956, Eugene Spitz installed John Holter’s valve into Casey, successfully treating his hydrocephalus.
Sadly, Casey never fully recovered from his brain damage from the initial operation, and died during an epileptic seizure five years later.
Fittingly, Casey’s legacy is that Holter’s invention, now called the Spitz-Holter shunt, is still in use today.
Holter spent the rest of his life developing valves for medical use and passed away in 2003, having saved the lives of thousands children (myself included) affected by the same condition as his son.
It is estimated that 15,000 valves based on Holter’s design are installed every year in the United States alone.
****John Holter’s remarkable story was retold in a 2001 paper published in the Journal of the American College of Surgeons upon which this article was based.

Sunday, October 27, 2013

Spina Bifida and Adult Healthcare Issues

***The Following is from http://www.spinabifidasupport.com/adultsbhealthcare.htm***

The May 9-10, 2003, Evidence-Based Practice in Spina Bifida Conference was a milestone: the first time ever that researchers and medical providers from all over the country gathered to assess the current state of research in spina bifida and plan a much-needed, long-term research agenda. And not a moment too soon!
Although there are many more adults living with spina bifida than ever before, there’s very little high-quality research on spina bifida in general—and even less on how spina bifida affects people throughout the life cycle.
Our current system does not promote ongoing, coordinated health care for adults living with chronic conditions, which creates significant health management challenges for adults with spina bifida. Most physicians who treat adults were not trained in what were once considered pediatric disorders. According to Timothy Brei, MD, “We've grown beyond the boundaries of established medical research. We are the pioneers. Many adults with spina bifida know more about their bodies than the physicians they see.”
Mark Merkens, MD, suggests that adults who lack access to an adult spina bifida clinic might want to look for a rehabilitation physician for primary or specialty care.

Health Management and Aging With a Disability
As people age, they experience various physical manifestations of the aging process. Muscle strength, flexibility and endurance decrease, and the risk of osteoarthritis and osteoporosis rises. Aging affects the central nervous system, decreasing sensation and balance. The skin thins and becomes less elastic.
People with spina bifida experience the usual manifestations of age, but since spina bifida puts pressure on many body systems, age-related declines in affected areas may occur sooner or be more severe. 
"SB docs at national conferences always talk about aging "in SB years". That is to say, things that happen to people as they age, happen to people with SB faster. Because of how we're built, and/or the way we walk/roll in wheelchairs, we develop things like arthritis sooner. Rotator cuff issues. Hip problems. This also applies to internal organs. Kidney damage may occur sooner. Heart and lung issues from scoliosis some of us have. We just age faster. Nobody knows how long a lifespan those of us who are shunted can have!! I know of people with SB in their 50s and 60s and 70s.....but none with hydrocephalus. Had they been born with hydrocephalus in the 1930s, 40s and 50s, they probably would not have survived. Since 80% of people with SB also have hydrocephalus, we are the first generation to survive in large numbers, thanks to the advent of the modern day shunt in 1958."~~~ Jesus Arroyo 

Shunt Failure
Shunt failure happens to adults, even those whose shunts have not been working for years. The symptoms of shunt failure in adults are usually the same as those in children. Dr. Merkens describes the symptoms as follows: “The symptoms of shunt failure may creep on you. Your thinking may be slower, you may be less facile with words, more hesitant in general and a little clumsier on your feet. Neurosurgeons who treat adults may be skeptical of shunt failure in adults, especially if the shunt hasn't been working for a while. But what I tell my students is ‘If there’s a neurological problem, it’s the shunt, stupid.’ It’s the mantra in new generations of young neurosurgeons.”

Chiari Brain Stem Compression

Chiari brain stem compression is likely to cause sleep apnea or loss of respiratory drive. The symptoms may be subtle at first. Dr. Merkens says, “Maybe you've been doing fine for years, but now you've contracted pneumonia a couple of times and seem to have more trouble recovering.”
According to Dr. Merkens, it generally doesn't happen for the first time in adulthood. But neurosurgeons say that when you’re starting to think about chiari brain stem compression, it’s a good idea to also check the shunt. A shunt failure increases pressure in the brain, pushing the skull down into the cervical spine—exactly what chiari brain stem compression is. It could present with a weak voice, pneumonia, more difficulty swallowing, difficulty with vocal chords and sometimes even problems with the eyes.

Spinal Cord Tethering
Spinal cord tethering can occur for the first time at any age, although it’s more likely to occur if there has been a previous tethering and detethering, which may have created scarring. Tethering usually presents the same signs and symptoms in adults as in children: basically anything that changes below the level of the spina bifida—the level of the spine where the defect occurred. There may be urinary changes, such as infections or difficulty staying dry, or sudden changes in bowel patterns.
Skin sores may be another symptom of tethering. Orthopedic changes, such as a foot starting to turn out, or scoliosis that progresses fairly quickly may signal tethering, as can a change in sensory level. Dr. Merkens says, “If you used to be able to feel down to your shins but now can’t feel your knees, tethering may be responsible.”
However, before contemplating detethering surgery, the shunt should be checked. If a pediatric, orthopedic or urology exam shows changes that suggest tethering, the next step is to get an MRI of the entire neurological system, to check for tethering, spinal syrinx and shunt failure. If the results are inconclusive, a pressure check of the shunt may be necessary.

Urinary and Bowel Systems

The rate of renal failure has declined significantly since the introduction of CIC(intermittent catheterization), but we’re not home free. Medical providers know that CIC reduces urinary tract infections (UTIs) and prevents urine backups, but its long-term effects are still unknown.
Dr. Merkens mentioned two young men with artificial sphincters who ran into serious trouble by not following their programs and said, “We don’t do enough to identify good candidates for artificial sphincters. Good candidates must catheterize religiously and have a low incidence of UTIs. An artificial sphincter basically puts a cork in the bladder, and urine must be emptied completely several times a day, or else kidney damage may result.”
People who have had bladder augmentation need to be followed closely over their lives for any signs of cancer, problems with mucus or kidney stones. The long-term effects of augmentation are still unknown. Adults with illeal loops must be followed closely, because there’s a chance that over time the loops may allow urine to back up into the kidneys.
Most difficulties with bowel programs relate more to behavior than to the level of spina bifida. Success generally depends on a consistent diet, regular exercise and timed evacuation. Doctors are not yet sure about the effects of chronic enemas, rectal bulbs and similar practices, so affected areas need to be checked regularly. Dr. Merkens raised the issue of mega-colon  which refers to the bowel becoming larger from regularly holding large amounts of stool. Though it is certainly an excellent method of bowel management, we don’t yet know of potential complications of the Antegrade Colonic Enema (ACE) over time.
Dr. Merkens says, “We are learning to be more aggressive about bowel programs earlier in life to prevent later complications such as mega-colon  In Great Britain, for example, the goal is for children to be in a functional bowel program by the time they are 6-years-old.”

Orthopedic and Skin Issues
According to a 10-year-old German study, over 50 percent of adults may have poorly fitting, poorly functioning braces. Premature arthritis is often a problem for adults with spina bifida, especially for those who use their shoulders to ambulate. Knees are also prone to arthritis, particularly in adults with a wobbly gait who don’t use crutches. Lots of back-and-forth and side-to-side motion is very hard on the knees.
Scoliosis can progress in adults if it wasn't fused in adolescence. Skin breakdowns can cause bone infections, especially at the heel or toes, which can be difficult to heal. Orthopedic problems can occur as a result of pressure and abrasion, poor circulation, neurological changes and edema. Dr. Merkens advises adults with spina bifida whose feet swell to elevate them several times a day. If your feet are purple or red, wearing pressure stocking is a good idea. Adults need to check their skin often. Wheelchair users need to use a mirror to check their rear daily and remember to shift positions every 15 minutes to avoid pressure sores.
Dr. Merkens recommends that adults visit a podiatrist annually, to ensure that their feet remain healthy.

Latex Allergy
Latex allergy is more likely to affect those born from the late 1980s to the mid-1990s. The rate of latex allergy in people with spina bifida born from 1987 to 1995 is over 50 percent, but the rate since then is much lower, almost certainly due to improvements in the latex purification process. Almost all large, teaching hospitals have latex-free operating rooms, but patients may have to specifically request a latex-free environment at smaller hospitals.
Before visiting the dentist, adults need to request a latex-free environment, which means that the patient in the previous appointment slot will need to receive latex free treatment, too. In fact, it’s a good idea to ask for the first appointment in the morning, when the room is cleanest and most latex-free.

Hypertension
Dr. Merkens reports seeing elevated blood pressure in many of his adult patients, at younger ages than usual. If blood pressure goes up, he suggests having a urologist evaluate the kidneys, because kidney problems can raise blood pressure. Elevated blood pressure—higher than 140/90—needs to be treated and followed closely.

Lung Health
There are two types of lung disease: obstructive and restricted. Obstructive is when something is blocking breathing, such as in sleep apnea. Restrictive lung disease is due to the inability of the lung to fully expand when taking a breath, which may be caused by scoliosis, Chiari, or even a weakness in the abdominal or chest muscles. Some of the signs are very subtle. But Dr. Brei advises adults who snore, feel tired or have to take naps during the day to see a physician for an evaluation.

Obesity and Exercise
Obesity is major health problem in the general US population, but it’s even more problematic in adults with spina bifida. According to Dr. Brei, “As we move into our teens, we have a tendency to become heavier, which contributes to high blood pressure, diabetes, heart disease and sleep apnea.”
Many adults with spina bifida have decreased mobility and spend more time in wheelchairs. Those who walk often tend to walk less as they age. Dr. Brei says, “Exercise is tremendously difficult for many of us, but it is so important. And vigorous, heart-pumping exercise is what we really need to maintain our cardiovascular health and manage our weight. Starting a program may be very difficult, but it’s essential to find a physical therapist, recreation therapist or fitness trainer you can work with.”
Regarding regular exercise, Dr. Brei says, “If I had the answer for this, I’d be rich. There are institutional barriers that are difficult to overcome, but it’s also true that some of us are not very motivated to exercise. I absolutely despise exercise. I've never felt those little endorphines that are supposed to make you happy while you work out. But I go to the gym as religiously as I can.”

Interpersonal Relationships

Interpersonal relationships are very important for everyone, including adults with spina bifida. Studies show that satisfying relationships improve both longevity and mental health. Dr. Brei says, “It’s not easy to go out and try to meet people. It’s often uncomfortable at first and it exposes us to hurt. But if we don’t seek out relationships, they’re probably not going to find us.”

Pregnancy
Spina bifida does not appear to affect a woman’s ability to become pregnant. Although the evidence is sketchy, it appears that spina bifida can complicate pregnancy, and although most difficulties may disappear when the pregnancy is over, there are some reports of women losing mobility and not regaining it after pregnancy. Women who want to become pregnant should work closely with an obstetrician specializing in high-risk pregnancies.
They should also talk to their doctor about taking prescription strength levels of folic acid prior to pregnancy since they are at higher risk of having a child with spina bifida.

Pain
Adults with spina bifida often experience considerably more pain as they age, which may be due to joint stress, muscle pain or arthritis. Dr. Brei advises adults in pain not to suffer in silence, but to tell their doctor how they feel. There are many pain management programs that can help.

Substance Abuse
Some research shows substance abuse as higher in adults with spina bifida than in the general population. If that’s true, it could be self-medication for pain, depression, isolation or any of a number of other issues. Dr. Brei says, “I worry because substance abuse hampers your ability to be independent, to succeed, to achieve goals. If you feel depressed or anxious, seek help. Counseling can help and several drugs out now are very effective in treating depression and anxiety.”

Basic Health Care Guidelines
Adults with spina bifida need to follow the guidelines for periodic health checks on all body systems: blood pressure, height/weight, cholesterol levels, colon health, tetanus shots, pap smears, breast exams, testicular and prostate exams, urinalysis, renal ultrasound, renal blood test, spine x-ray, eye exams and more. SBAA publishes guidelines on health maintenance for people with spina bifida, which Dr. Merkens is in the process of updating.
In summing up, Dr. Brei offers this advice: “Avoid smoking, drugs, and drinking too much. Find work you enjoy. If that’s a problem, volunteer your services. Develop social supports, such as finding others who enjoy the same hobbies you do, or join a group at church. If you’re working, get together with people at work. Meet your neighbors. Get lots of sleep. Find exercise you can do and stick with it.”
Adults living with spina bifida need to monitor their health regularly and seek out health care at the first signs of trouble. Health care is one of those areas where being proactive pays big dividends—and waiting too long to react can create serious problems.

+++This article was adapted from the 2003 SBAA Annual Conference session “Health Care Issues for Adults With Spina Bifida,” presented by Timothy Brei, MD, and Mark Merkens, MD.

***This information does not constitute medical advice for any individual.  As specific cases may vary from the general information presented here, Spina Bifida Family Support advises readers to consult a qualified medical or other professional on an individual basis.

Saturday, October 26, 2013

Spina Bifida and Urologic Care

The urological care of children with Spina Bifida has undergone several important changes in the last decade. The emphasis is now on early catheterization of the child's lower urinary tract and preventive treatment to preserve both kidney and bladder function in an attempt to maximize the child's long-term urological functioning and overall health.

Newborn assessment

As soon as the neurosurgical condition is stable after birth, an assessment is made of the newborn’s kidneys with a serum BUN, creatinine and renal ultrasound (ECHO); the bladder is evaluated with urodynamic studies. Children whose bladder will fill and empty with low pressure are managed expectantly.

Management of the neurogenic bladder

If the child's bladder pressure is elevated above 40 cm H20 during filling and/or the urethral sphincter is dyssynergic (not coordinated during a bladder contraction), then the child should begin intermittent catheterization (CIC) and possibly anticholinergic drugs to ensure complete emptying and low filling pressure. Antibiotics are usually prescribed for a short time until the family is comfortable with the technique of catheterization.
If the kidneys are dilated (hydronephrotic) or the urodynamic studies reveal high bladder filling pressure or a dyssynergic sphincter with high voiding pressure, a voiding cystogram (VCUG) is performed. When reflux is present, most children will need to be started on CIC and antibiotics to achieve adequate drainage of the upper urinary tract. A high-pressure bladder in the presence of reflux and/or hydronephrosis warrants the additional use of anticholinergic medication. Children with lesser grades of reflux or mild hydronephrosis, whose bladders empty with low pressure, are managed without CIC because it is unlikely they will develop any damage to their kidneys. These children are followed very carefully though to see if their condition changes.

Surgical options

If the infant with impaired upper urinary tract drainage fails to respond to CIC and anticholinergic medication; or the parents are unable to perform the procedure easily and routinely, a vesicostomy may be performed. This procedure consists of bringing the dome of the bladder to the skin as a stoma midway between the umbilicus and the pubic bone. The advantage of this temporary form of diversion is that it is easily reversible when the child is older and the family is amenable to CIC, and it does not alter the child's future continence mechanism.

Surveillance

Throughout infancy and early childhood the children are followed with routine urine cultures, evaluation of post-void residual urine volumes (in those not on CIC), and kidney and bladder ECHOs. Urodynamic studies are repeated on a regular basis in those children with normal or minimal denervation in the sphincter to see if their neurologic lesion has changed and/or spinal cord tethering has occurred and to determine if the children who are on expectant therapy, have altered their bladder and sphincter function such that prophylactic intervention with CIC and/or anticholinergic drugs is warranted.
When a child develops recurrent urinary infection, a VCUG or radionuclide cystogram (RNC) is performed (even if it has been done previously) to evaluate for reflux. Children not on catheterization are given appropriate antibiotics. In children on CIC but without reflux, only symptomatic infections are treated with short courses of antibiotics. Children on CIC with reflux are managed similar to those with normal bladder function, i.e., antibiotics as indicated, frequent urine culture, regular ECHOs and, if indicated, RNCs or VCUGs to monitor the progress of their reflux. If a child with mild reflux who is not on CIC develops symptomatic UTIs, he/she is begun on regular catheterizations.
The use of CIC, antibiotics and anticholinergics has resulted in a spontaneous resolution of reflux in more than 50% of children, with a reduction in its severity in another 30 to 40%. Antireflux surgery (required in 10 to 20%) is undertaken when children have repeated infection despite adequate antibiotics and a good bladder- emptying regimen. The success rate for surgery is almost as high as it is for children with normal bladder function, i.e., 96 to 98%.

Continence-medical therapy

Because the emphasis has shifted to mainstreaming children with myelodysplasia into normal school and social situations, it is very important for bladder and bowel function to be controlled before the start of school. If the child is not on CIC in the months preceding this milestone, catheterization is started and urodynamic studies performed to determine how best to modulate the incontinence. Medications are given to a) lower bladder filling pressure and increase capacity, and b) raise urethral resistance to prevent leaking between each emptying. Success rates for achieving continence range as high as 65%.
There are several alternatives within each category of drugs that may be given so that if one medication does not achieve the desired effect or produces side effects, another may be substituted. Even the method of administration has changed, for example, Oxybutynin (Ditropan) tablets may be dissolved in normal saline and instilled directly into the bladder through the catheter used for CIC.
When these measures fail to lower bladder pressure and increase capacity, several alternatives exist. Transurethral electrical bladder stimulation (TEBS) has been conducted at a number of centers around the United States; this consists of delivering an electrical stimulus to the bladder through a specially designed catheter for 90 minutes, 5 days a week for 5 weeks. In one study, this treatment has been shown to attain continence in 15 to 25% of children with another 25 to 30% requiring less medication to achieve a low-pressure large capacity bladder. In addition, a significant majority report improved bowel continence after completing one or two courses of treatment. Several research centers in North America have started to directly stimulate the nerves that control bladder and urethral sphincter function in an attempt to improve both storage capabilities and emptying efficiency of the bladder. Assessment of preliminary results from these centers has been encouraging. It is not known how long lasting the effects of these programs will be.

Injection therapy

Over the last several years, advances have been made in the endoscopic management of incontinence. This has resulted in less invasive procedures being performed prior to major open reconstructive surgery. Botulinum toxin (Botox) injected directly into multiple sites within the bladder muscle can paralyze it leading to increased capacity and compliance, resulting in improved continence and kidney drainage. The botox may be effective for upwards of 6 – 9 months but repeated injections are needed to maintain its effect.
Recently, bulking agents (primarily Deflux) injected into the ureter adjacent to its orifice at cystoscopy has been promoted, with a success rate ranging as high as 80 – 90%, for the milder grades of reflux. It is imperative that the bladder needs to be optimally managed even in these cases of endoscopic treatment.
Dextranomer hyaluronic acid polymers (Deflux) injected directly into the bladder neck or continent stoma conduit (where it enters the bladder) is currently also being employed to enhance bladder outlet resistance and improve continence when drug therapy or prior surgery fails to achieve total continence. The effect seems to be stable but long-term studies are needed to judge it efficacy.

Surgical treatments

When these measures fail to achieve continence, various formal surgical procedures have proven useful. Augmentation cystoplasty in which a segment of the gastrointestinal (GI) tract is isolated and added onto the bladder has been performed on numerous occasions. All portions of the GI tract have been utilized – stomach, intestines, colon and sigmoid. The bowel must be detubularized to prevent physiologic contractions that occur in the normal bowel segment from producing unwarranted incontinence. Mucus and urinary infection may be persistent problems, even years later. Perforation of the intestinal segment from overdistension has occurred, especially if the individual's bladder is not emptied routinely. A disturbing feature relating to these intestinal segments has been the slowly but steadily increasing incidence of tumor formation within the bladders of these individuals beginning 15 to 20 years after the augments were fashioned. Further investigative studies are under way to determine the true incidence and susceptibility to this potentially devastating complication. The need for long-term surveillance is paramount.
Autologous tissue engineered constructs of bladder tissue grown from an individual's own bladder biopsy material has produced favorable results in phase 1 trials. This may hold promise as a viable alternative to intestinal sources for augmentation, thus eliminating the potential complication noted above.
Procedures designed to increase bladder outlet resistance include bladder neck reconstruction, fascial sling or bladder neck suspension, artificial sphincter implantation and the Kropp procedure. The artificial sphincter consists of an occlusive cuff fitted around the bladder neck or bulbar urethra, a pressure regulating balloon reservoir and a deflate pump placed in the scrotum or labia. When the child wants to void, he or she squeezes the pump, opening the cuff and allowing the bladder to empty. The cuff automatically refills with fluid from the reservoir over the next five minutes occluding the bladder neck once again. If the child can empty the bladder spontaneously with straining before the sphincter is implanted, then he/she should be able to do so postoperatively. The long-term success rate for the artificial sphincter at least five years after implantation ranges from 65 – 80%.
All other operations designed to increase bladder outlet resistance require that the child catheterize him/herself afterwards to empty the bladder. In the fascial sling procedure, a strip of fascia (or fibrous tissue surrounding the rectus muscle) is isolated and wrapped around the bladder neck compressing and buttressing it against the undersurface of the pubic bone. The added resistance and the repositioning of the urethra prevent leakage between catheterizations in more than 80% of children. The Kropp procedure isolates a strip of anterior bladder wall, tubularizes and tunnels it below the surface of the posterior bladder wall in order to elongate the urethra. This creates a very effective continence mechanism (95%) but it requires reimplantation of both ureters in a slightly more lateral position to accommodate the neourethra, and augmentation cystoplasty because so much of the bladder is used in the reconstruction.

Continent diversion

When the child cannot be catheterized transurethrally or requires a urinary diversion, most urologists are now performing an operation to create a continent catheterizable stoma. This conduit can be fashioned from ureter, appendix (preferred), fallopian tube (in girls), intestine or stomach—anything that can be easily catheterized. One end is brought to the skin and the opposite end implanted into a urinary storage reservoir if the bladder cannot be salvaged.
When the bladder remains as the urinary reservoir, its neck might need to be obliterated, especially if the outlet resistance is very low, in order to eliminate the possibility of urinary leakage from the urethra. The continent stoma is small and inconspicuous and is easily covered with a band-aid or small gauze pad. Continence is achievable in over 90% of children. The children with this anatomic arrangement have done well on a reasonable long-term basis but more time is needed to be certain about late follow-up. The only consistent yet easily manageable complication has been stenosis at the skin stoma site. Most families report the child's quality of life and care giving are vastly improved, with many children becoming more independent in managing their urinary tract than previously achievable.

Incontinent diversion

Urinary diversion, commonly performed in the 1960's to the mid 1980's, consists of isolating a segment of small intestine, attaching one end of it to the ureters after they have been detached from the bladder, and brining the opposite end to the abdominal wall skin as a wet stoma. The urine passes through this system continuously to a bag placed over the abdominal wall stoma. This operation is rarely performed anymore unless it is deemed difficult or impossible to get the child or adolescent to catheterize their urinary reservoir on a regular basis. Individuals who currently have these incontinent stomas are not necessarily candidates for either an undiversion or a continent stomas operation, especially if they have not had any adverse reactions from their original conduit surgery.
The development of complications, e.g., pyelonephritis (kidney infection), urinary tract stones, obstruction in the urinary conduit, or stomal stenosis requiring a revision, may warrant conversion of the conduit to a continent stoma.
***This information does not constitute medical advice for any individual. As specific cases may vary from the general information presented here, SBA advises readers to consult a qualified medical or other professional on an individual basis.***

Friday, October 25, 2013

Spina Bifida and Precocious Puberty

Children with Spina Bifida and hydrocephalus may start puberty earlier than their peers
What is Puberty?
Puberty refers to normal body changes that lead to maturity and the ability to have children. Normal puberty begins between ages 8 and 12 in girls and between 9 and 14 in boys. Hormones made in the brain control the timing and sequence of puberty. These hormones stimulate other parts of the body to make sex hormones. The sex hormones, especially estrogen in girls and testosterone in boys, cause sexual maturation.
What are the stages of normal puberty in girls?
The physical changes seen in puberty are labeled by “Tanner staging.” Stage 1 is child-like (before puberty) and stage 5 is full maturity. The usual sequence in girls is:
  • Breasts start to develop.
  • Hips widen and a there is a growth spurt that usually lasts about four years.
  • Pubic hair grows (three-to-six months after breasts develop).
  • Other body hair grows.
  • First period usually starts two to two-and-a-half years after breast development is noticed. Body odor may also change.
The average age that breasts start to develop in girls is 9 to 10. Puberty usually starts earlier in African-American girls than in Caucasian girls. Some experts found that breast development in African-American girls started a year before it did in Caucasian girls. Breasts typically take at least three years to mature fully.
If major breast development starts before age 8, it is considered early. (Sometimes girls will have some breast development, with no other signs of puberty. This isolated change is usually normal.)
What are the stages of normal puberty in boys?
The usual sequence in boys is:
  • The testicles grow larger.
  • There is a growth spurt.
  • The penis grows larger.
  • Pubic hair grows.
  • Other body hair grows.
If boys show major development before age 9, it is considered early. Early puberty in girls or boys is called “Precocious Puberty.”
What is precocious puberty?
“Precocious puberty” means that these changes start much earlier than expected. Early puberty can cause problems. Once the growth spurt starts, bones become more adult-like. After that time, the bones stop growing and can’t grow any more. So, most children who start puberty too early will be shorter than they otherwise would have been.
Another major problem with early puberty is that body changes happen much earlier than in other children of the same age. This makes a child appear different. Children with early puberty might be teased. This is common for girls who develop breasts early. Girls might receive sexual advances for which they are not mentally and emotionally ready. Boys might become more aggressive than their peers.
Children with early puberty might feel alone and rejected. Adults might expect them to act older than they are. This can be hard for children because they can’t live up to how others think they should act. For children with Spina Bifida, early puberty and all of the problems that go with it can make daily life more difficult.
Why are children with Spina Bifida and hydrocephalus more likely to start puberty earlier than their peers?
No one knows for sure why children (especially girls) with Spina Bifida and hydrocephalus are more likely to have early puberty. Most think that hydrocephalus changes the time when the brain sends “puberty hormones” into the bloodstream.
What do I do if my child shows signs of precocious puberty?
Your child should be seen by a health care provider if he or she:
  • Starts puberty early;
  • Has an unusual sequence of the steps outlined above; or
  • Has very fast sexual development.
Your child would be referred to an endocrinologist (a doctor who specializes in hormones). If no other problems are found, the most common treatment is to delay puberty. There are hormonal treatments that can stop puberty, usually after three to six months; and may reverse some changes.
LHRH analogs, synthetic hormones that block the body's production of the sex hormones that cause precocious puberty, are available under different names, but Lupron seems to be the most commonly used medication. Positive results are usually seen within a year of starting treatment with an LHRH analog, and the drugs are considered to be generally safe. However, all drugs potentially have side effects, and families should discuss this with their physicians.
What is the benefit to delaying puberty in my child?
It is thought that delaying puberty helps children grow taller than they would have been otherwise. More important however, the delay in sexual maturation should allow children (and parents) to adjust to their growing bodies and feelings, and help them have a healthy sexual identity.
This information does not constitute medical advice for any individual. As specific cases may vary from the general information presented here, SBA advises readers to consult a qualified medical or other professional on an individual basis.

Thursday, October 24, 2013

Spina Bifida: A Guide For Medical Professionals

***The Following is a conversation that Jesus Arroyo had with a doctor recently. Actually, it was a 3rd year medical student that has not had much, if any, experience with treating a patient that has Spina Bifida:
"I went to the doctor today for something. Third year Med student walked in first. Yep, I was annoyed. I understand people have to learn. But not on me. SB is so complex and complicated, the body systems it affects....at national conferences, specialists are constantly telling us SB is the most complex birth defect you could have that is still compatible with life....(hey there ya go, a real fact, not just a story. :-)) Anyway, so I was annoyed. And sure enough he was shocked....shocked I tell you!!....that he was witnessing a 37 year old with SB! And ambulatory! And of average intelligence even! So I schooled him. I was respectful. I was patient. I was nice. But I schooled him. "When you get to be on your own and you hear about a pregnancy with SB, don't go all 'worst case scenario, scare the shit out of parents, push abortion' on them. I understand it's your job to inform, to give possible outcomes, to prepare them. To be realistic. It would be medically irresponsible not to be. But don't go right to abortion; to 'no quality of life'. To 'he will be a vegetable'. A whole population of fantastic adults don't deserve that. Happy, successful adults. Patent lawyers and doctors, teachers and moms and students and husband's and counselors and stay at home dads and volunteers. We are a lot and we do a lot and we don't deserve to be outright dismissed from one ultrasound." There was more but that's the general idea. He was genuinely appreciative. Grateful even. Said I taught him something valuable today. Go me."***

It is never easy or pleasant to give expectant parents news that their pregnancy has a fetus affected by Spina Bifida (SB). In order to help you provide the best care possible for your patients, and to help expectant parents fully explore the options they have, the Spina Bifida Association (SBA) wants to ensure that you have the most current and accurate information about Spina Bifida.
What you may remember about SB does not necessarily reflect the advances in medical and psychosocial care over the last generation.
  • It is currently the most common permanently disabling birth defect, that is compatible with an adult life expectancy.
  • For prenatally diagnosed patients, motor function may be better if a baby with SB is delivered at 37 weeks by elective C-section before a trial of labor (Luthy et al, 1991). This practice is recommended by many SB clinics.
  • Fewer than 5% of pregnancies affected by isolated neural tube defects will result in a stillborn child or preterm delivery.
  • Because of new treatments, surgeries, and therapies, at least 75% of individuals with SB live into adulthood (Bowman & McClone, 2001).
  • The majority of people living with SB are adults. Most of them have ventriculoperitoneal (VP) shunts, but their life expectancy is not yet known. While there are adults with SB living into their 60's and 70's, those individuals predate the development of the VP shunt.
What is Spina Bifida?
Spina Bifida is a general term used to describe a variety of different neural tube defects which include Spina Bifida Occulta (SBO), a closed neural tube defect, and Spina Bifida Cystica (open neural tube defect). The most common open neural tube defect is Myelomeningocele. When most people speak of Spina Bifida they are referring to Myelomeningocele.
What causes Spina Bifida?
Spina Bifida is caused by a complex interaction of both genetic and environmental influences that ultimately affect any given pregnancy. The genetic influences remain poorly understood. There are a number of environmental influences which have been identified, though the exact interactions of environmental factors with the genetic influences are also not well understood. The most common environmental factor studied has been folic acid (Hernandez-Diaz, Wetler, Walker & Mitchell, 2001). Other factors include: use of seizure medication during pregnancy (Hill, Wlodarczyk, Palacios,&Finnell,2010),maternalhyperthermiaduring early gestation (Suarez 2004), and maternal obesity (Stothard, Tennant & Bell, 2009). It is known however, that addressing all of these environmental factors before conception does not eliminate all possible causes of SB.
Current recommendation by the Centers for Disease Control and Prevention (CDC) state that all women of childbearing age should take a daily multivitamin with folicacid (400micrograms). Furthermore,women who have had a previous pregnancy affected by SB should take 4 milligrams of folic acid at least one month prior to conception, and through the first trimester (CDC 1991; CDC 1992). Unfortunately, even if all women did this, approximately 30% of cases of SB would still occur.
Medical Issues
Hydrocephalus- Almost all individuals with SB develop hydrocephalus due to the presence of the Arnold Chiarimal formation.For some individual sit appears that they develop some degree of hydrocephalus in utero.For many individuals, hydrocephalus develops post-natally, after surgical closure of the back. In the past, most individuals with SB required placement of a VP shunt to treat the hydrocephalus; but VP shunts are associated with potential complications. Pediatric neurosurgeons are now looking at new treatment options that might eliminate the problems associated with VP shunts; and are questioning through research, whether all individuals who previously got VP shunts actually needed them.
  • Mobility -This issue is dependent on the spinal level of the SB lesion. Most children are able to walk (though usually with the aid of orthopedic bracing and assistive devices such as crutches). Some are full-time walkers, but many walk short distances and choose a wheelchair or electric cart for long distances. It is generally only those with thoracic or high lumbar spinal lesions who end up using the wheelchair as their only method of mobility.
  • Neurogenic Bowel and Bladder -This issue is common in SB because the nerves that control the bladder, anus and a small segment of the sigmoid colon are controlled by sacral nerve roots (S2-S4). For the majority, bowel and bladder continence is achieved by medical and/ or surgical management. In recent years, a number of treatments have been developed which allow individuals to achieve varying levels of functional continence. The value of functional continence is that it promotes skin health and facilitates inclusion of people with SB to a greater degree of societal participation.
  • Intelligence and Learning Issues -Most people with SB have normal IQ scores but may have learning difficulties. These can often be addressed when parents and teachers understand the issues and work together. Despite having normal intelligence, many adults with SB still struggle to live independently. Research
    suggests that there are likely multiple reasons for this, including the occurrence and type(s) of learning issues present, family and individual beliefs and expectations, and potential lack of exposure to peer and societal experiences compared to their non- disabled peers.
Quality of Life in Adulthood
Research over the last decade has demonstrated that self-perceived quality of life for persons with SB does not appear to be influenced primarily by medical issues (though medical issues may influence quality of life at times of medical crisis or stress). Rather, studies have shown that for most individuals with SB, quality of life is more strongly associated with the individual's beliefs and experiences, and that the family also influences the individual's beliefs in his or her capabilities. (Sawin& Bellin, 2010). Thus, lack of independence in persons with SB today appears to be more strongly influenced by learning issues that are inadequately addressed, and by negative attitudes and societal limits.
When Delivering the Diagnosis:
  • Acknowledge your level of knowledge about SB. If you don't know, tell the patient you will find the information, or refer them to someone who does know. Choose your words carefully. This will likely be remembered as the worst day of their lives and your compassionate words and approach will echo in their memories.
  • Avoid giving a definitive prognosis.There is a broad range of outcomes, and even with the most detailed information available, an accurate prognosis is difficult to provide. Giving parents the potential best and worst case scenarios will help the family begin to adjust to the shock of the situation, and allow them to process the information, so they can make the decision that is best for them.
  • Be careful not to infer blame it is no one's fault. While we know a number of factors that might be associated with SB, we really don't understand all the genetic and environmental factors and interactions that cause SB.
Families will be weighing all of their options: Termination or continuing the pregnancy. For some people, adoption may also be an option. For those who wish to continue the pregnancy, the option of fetal surgery exists, although in-utero repair is not a cure for SB.
Fetal Surgery
Fetal surgery as a treatment option began in the late1990's and showed some initial promise related to some of the medical issues seen in SB, particularly the incidence of Arnold-Chiari malformation and hydrocephalus.The NIH-funded Management of Myelomeningocele Study (MoMS) began in 2003 and ended December 2010. The first results of that study were published in 2011 (Adzick & Spong, 2011). Outcomes were evaluated for 158 subjects at 12 months of follow-up.Findings indicated a reduced rate of VP shunt placement in the treatment group compared to the control group (40% versus 82%) ;and a decreased rate of hind brain herniation (64% versus 96%). In addition, some improvement in motor outcomes was noted at 30 months (Adzick & Spong, 2011). However, there were noted potential complications, and the original article did not address all issues affecting individuals with SB, mothers, nor any longitudinal data on health outcomes. While the study shows promise for fetal surgery as a treatment option, some cautions remain, including the concern that fetal surgery may pose risks for subsequent pregnancies due to uterine damage. This is currently being studied. SBA's Professional Advisory Council provided an additional response to this publication on SBA's Web site under their Published Research section. In light of the complexity of an SB diagnosis, it is important that families have access to people who can provide accurate information about what to expect over the long-term in order to make an informed decision.
Referrals
  • As soon as possible, refer the patient to a pediatric neurosurgeon, and/or to a SB Clinic to get information on longitudinal care issues.
  • Ensure that the people you refer to have the most current diagnostic information (fetal ultrasounds or MRI scans). That will ensure that the consultants are able to give the most accurate information about what to expect in the future should families decide to continue with the pregnancy.
  • Families would also benefit from referral to a geneticist or genetic counselor.
  • Pregnant women should be referred quickly to a Perinatologistor Maternal- Fetal Medicine specialist. Families who wish to consider abortion will need to discuss that option fairly quickly and should discuss medical issues related to the procedure with their health providers.
  • Women who wish to consider the option of fetal surgery will need immediate referral to a center experienced in this intervention. Fetal surgery is done prior to 25 weeks gestation. It is important to note that not all women with an affected fetus are candidates for the procedure.
  • Let families know about Spina Bifida Association (SBA), which has many resources that are useful and informative to families. There is an information sheet available to expectant couples on the SBA website. The expectant mother or family can also contact the SBA National Resource Center with any questions. SBA can also help link families to a local chapter that can also provide resources and support.
For More Information
SBA offers a wide variety of in-depth health information sheets which cover all aspects of Spina Bifida care.