MDSG 11th annual conference England

click here to view Liverpoolhotel click here to view JeninaLondon
May 20, 2000
We arrived in Liverpool late in the evening about 23:00 after long train trip from London. It was a 3 hour train trip from London complicated by a late arriving train. As soon as we arrived there was a quick phone call from Margaret Bower the chairman of the Myotonic Dystrophy Support Group. She welcomed us and made sure that we had arrived with no problems. We had a restful nights sleep despite our jet lag from the USA.

The next morning we arose bright and early and began our preparation for the day’s exciting events.  I had brought some poster boards from the USA. One was on the website that you are reading. A second was on the muscular dystrophy Association in the USA. The third was the new Support group in LA the Myotonic Awareness and Assistance Association. We ran a small fundraiser for the MyotoniAAAA.

We had breakfast and began to meet some of the wonderful members of the organization. Everyone was bright and cheerful and  we looked forward to a great meeting. If you wish to view a copy of the program click here.

The group has a lot of fundraisers available for sale. We bought a sweatshirt and several other shirts as well as pens and other items.  We even bought Bumper stickers so watch out for the Sticker Myotonic Dystrophy Support Group! I hope that we can post information shortly so that you can buy some of these great items and support this wonderful group.

For me it certainly was a highlight of the year. Since I heard about the conference in late 1999 or early 2000 I wondered what it would be like. I must say that all my expectations were met and exceeded and I certainly thought it was worth the time and money to attend. Here like nowhere else that I found was a critical mass of people who shared the same background that we had and also had the support and knowledge of the medical profession behind them.

Meeting the people was just great for us we met both parents of children with CMyD and  and also people with DM. This was just the nicest experience. We could talk about many things that were in common as well as just be with one another. It was a strong bonding experience for me.

At the conference they had “Creche” which for non English folks this is a nursery type of atmosphere where they had arranged for childcare for younger ones. They also had a strong program for the younger adults and this was “Football” Soccer as well as I think manicure treatment. So everyone got to participate.

It was nice to see the younger adults interact. I’m sure that it was just a real benefit to them to meet other people who were just like them. Its hard enough being a teenager so meeting others with the disease I think was immensely helpful for them.

We also brought some wine from California for the “Home produce” auction. I feel that the People in Britain though are more beer drinkers and should have brought some home brewed beer instead. There was also a raffle but I never did find out how you buy the raffle tickets.The conference was over so fast. It began we met people and then quickly we had to take the train back to London. It was a shame we could not stay longer…but then there is next year.

What it showed us was the power that a group can have. This power to organize and to share information and experiences can not be underestimated. If we all communicate and organize it will make the disease easier to manage. Eventually, in the future there will be more positive therapies, but now with communication and coordination we can make the disease more manageable. The other thing I wondered is why we are all alone in the USA. Why hasn’t the MDA association been more active in designing support groups? More questions than I have answers to…Anyway here is the day’s program. I tried to take as complete notes as possible!

Margaret opened the meeting at 10:15 and then introduced chairman for the day Elycia Ormandy. Elycia gave good comments and apologized the the “Silly Song” not being ready but it did arrive later to the tune of “Yellow Submarine”. I think was caught most of the humor even though we were not British.

Dr. David Brook keynote speaker expertise in Medical Genetics

We did a review of the genetics of the disease and I found out some new information too.  Attached to the DNA is a 3′ UTR (untranslated Region). There is DNA with the 3’UTR is translated into mRNA with the UTR attached. However, the mRNA does not translate the 3′ UTR into the protein so the protein is coded without the UTR region.

The main cause of the Myotonic dystrophy was shown in a slide that is difficult to reproduce here. Basically the slide showed a normal person’s cell and a cell with Myotonic dystrophy. The normal cell showed nothing wrong. The slide with myotonic Dystrophy who showed many red spots. These red spots indicated that the mRNA is actually trapped inside the nucleus of the cell. Because the mRNA is trapped inside the cell there is a shortage of the protein that is needed to have the body function normally.

Since the Chromosomes are paired the first part of the Chromosome makes the normal part of the protein. The chromosome that is damaged with the extra repeats can not make the protein so their is a deficiency of these proteins. This is what Dr. Brooks believes is the cause of Myotonic Dystrophy.

A college of his, Marion, in Nottingham is working on a theoretical gene therapy. The theory behind this gene therapy would be to produce a ribosome that would attack the accumulated mRNA in the nucleus and break in into parts that could escape the nucleus. Thus if the myotonic dystrophy is caused by a buildup of the mRNA in the nucleus this would be a potential treatment.

Dr. Brook then relayed some tests that had shown that 11 CTG repeats and the proteins are produced properly. But at 140 repeats no protein is produced. This again seems to indicated that the that the mRNA is trapped in the nucleus of the cell. He also showed a slide which had the green fluorescence  test a test that allows researchers to easily see when a cell has myotonic dystrophy.

A drosophilae (common house fly)  homologue has been identified for the myotonic dystrophy gene in humans. A new study in the Nature Genetics Journal has found a role for a piece of gene called six5 was first identified by Keith Jansen’s Group.

Studies with Mouse with Six5 if you inactivate both copies of gene Six5 in the mouse, the mouse will get cataracts. The implication of this study is that the DMPK (Muscular Dystrophy Protein Kinase)  gene with extra repeats inactivates parts of the gene code.

Questions form Audience:

There were several questions on the practical management of the disease that were deferred to the afternoon sessions.

Question: Does the mapping of the human genome help your research

Definite the mapping has helped us out. This basic research is very helpful in making sure that we have the proper information when we need it.

 

Dr. David Hilton-Jones

                        “Myotonic Dystrophy Incurable but not Unmanageable”

The incidence of Myotonic Dystrophy is 1 in 8000. Most general practioners have about 2000 patients in their practice. So by simple mathematics only one in four general practioners will see a patient with DM. Most will not know much about it. So it is necessary to have specialized centers for treatment. (Webmaster note: By implication the congenital form is about 1 in 100,000 so that only 1 in 50 pediatricians will have a patient with CMyD in their practice)

Most other muscular dystrophies will only affect the muscles. DM is different in that other systems are affected as well. Another difference is that with most other genetic diseases you either have the gene and the disease or you don’t.  DM is a variable genetic disease. It severity differs with the age of onset and the number of repeats.  There is not a distinct expression of the disease based on an on or off view. Thus, many medical practioners will have a harder time understanding the disease. The other implication is that you can not generalize the condition of one patient with the disease to another, it is variable

Skeletal Muscle: The skeletal muscle is defined by Myotonia of muscular stiffness, in particular hand stiffness. Also certain other muscles are weak especially facial, scapula and humorous muscles are mostly affected. However, this stiffness is generally not he problems that patients report more, it is the weakness of the hand and other muscles that comes into play. This is more the day to day problems that weaker muscles may cause. Weakness of the grip seems to be the most problematic. A normal male should be able to squeeze about an equivalent of 50Kg. A patient with DM may only be able to squeeze the equivalent of 10-1Kg for example. Also weakness of the ankle muscles causes the characteristic gait of DM.  Dr. Jones mentioned that a patient of his was unable to blow into a breathalyzer machine So Dr. Jones felt it was more the practical issues of weakness more than the myotonia that affect DM patients

Smooth Muscles: One of the primary effects of DM on smooth muscle is that swallowing and feeding are much more difficult. What is generally recommended is that food should be cut into small pieces and drink used to wash this down. Care must be taken to avoid aspiration pneumonia, that is food going down into the lungs and causing pneumonia. Dr, Jones mentioned a drug Cysotia??  (Margaret can we get clarification here)  or surgery that might be needed to assist. Also a video Fluoroscopy will help diagnosis any feeding problems.

The smooth muscles also affects the bowel and notably irritable bowel syndrome is very common in patients with DM. This is failure of coordination of muscles. Constipation is also a complication because of muscle problems plus immobility of patients not moving. Surgery is not recommend and Dr. Jones has heard reports of patient deaths with surgery. The Uterus is also affected and problems in childbirth may result.

The heart is affected in other dystrophies but in DM it is not the heart muscle itself that is affected. Rather, it is problems with the electrical signals not working properly and the heart either working to fast or too slowly. Atrial fibrillation is when part of the heart is not working efficiently, pumping to fast and not coordinated)  and this can cause dizzy spells and blackouts, can be treated. The heart can also pump too slow causing the same symptoms. Heart changes are slow to respond to changes in the body. Dr. Jones recommended an EKG every year to look for changes.

Eyes and Ears: Cataracts can be the first evidence of disease. Generally, if cataracts are seen in patients under 50 DM should be considered. There is nothing special about the mature form of cataracts. However, in the early stages there is a characteristic pattern that can be seen that is unique to DM. A mild degree of deafness is due to DM but not serious.

Brain. On average IQ is a little lower. In the congenital form IQ is reduced and most children will have learning disabilities. The mental problems are pretty static with little change over time.

Excessive Daytime Sleeping: 75% of DM patients have excessive sleepiness. In a survey they conducted 120 responses were received and 40% of patients had a pathological sleeping problem. There is a new drug Modafinil, trade name Provigil  that might help. (Webmaster Note: This drug worked very well for my wife who is taking 100mg per day. See information on Sleeping and Energy)

Breathing: The lungs are affected as well as the heart. The anesthesiologist should be informed as well as the surgeon prior to any surgery. Certain precautions must be taken. DM suffers should wear a bracelet as well as cards in case of an accident. The group had a handout on anesthesia that was in some of there earlier newsletters.

Endocrine System: There is reduced fertility in patients with DM. There is also diabetes. Dr. Jones didn’t feel that DM diabetes falls into the classical sense of Diabetes. Feels that all patients with DM have problems with sugar levels.  (My note: Might possibly have a different Mechanism of action?).  Would be nice to get some more information on this.

Dr. Jones feels that the age of onset is a more potent predictor of outcome versus the number of repeats. There is the anticipation factor where in each generation the outcome becomes progressively worse.

Genetic counseling: Family needs to be screened especially women to prevent them from unknowingly having an infant with CMyD. When an individual is identified strong efforts should be considered to have other family members tested to avoid them having CMyD. For example Dr. Jones considered an example of a 28 year old male who was confirmed diagnosis with DM. He had 2 sisters one 25 and one 21. The 21 year old sister went on to have a child with CMyD because she was not informed or tested.

Dr. Alex Magee

From Belfast Northern Ireland. Met Dr. Peter Harper in England and he helped convince her to study DM. This is an autosomal dominant pattern meaning that 50% of the offspring would be affected if one parent had DM. If two parents had DM then the chance of offspring having this would be 75% with possibly one severely affected.

Northern Ireland Demographics:
67 Families have been identified with DM. 200 individuals have the disease. 16 have the congenital form. One third of the patients in Ireland find out they have the disease through an affected child.

Anticipation means:  “progressively earlier appearance of a disease in successive generations with generally increasing severity” We are not sure why only the mother causes the congenital form of the disease. DM tends to disappear in families as the disease causes fertility problems and CMyD does not allow children to reproduce.

Affects on the Family During discovery:

                    Relief
                    Hurt
                    Anger
                  

Northern Ireland Muscle Clinic. The Patients see the following specialists:

Adult Neurologist
Pediatric Neurologist
Orthopedic Surgeon
Clinical genetics
Physiotherapist
Occupational Therapist
Speech Therapist
Dietician
Podiatrist
Support group Officer
Social Worker

Planning a Family?

Genetics counselor can review with Patient and Partner some issues. Here are a few of the issues that are covered.

For a Male with DM
size of the Expansion
chance of infertility
Anticipation
Practically no chance of child with CMyD
Prenatal Diagnosis
preimplant diagnosis

For a Female with DM
size of the Expansion
chance of infertility
Anticipation
Chance of child with CMyD (larger the size more chance of CMyD)
Childhood onset
Prenatal Diagnosis
preimplant diagnosis

Amniocentesis: Can be done 13-14 weeks into pregnancy. Retrieve 5-10ml of fluid. Cells from the fetus skin get into the fluid. The DNA from these cells can then check for DM Diagnosis. The Ireland clinic cites a 1% chance of miscarriage with this procedure.

Dr. McGee cited case where her husband diagnosed a case of DM. HE was a first aid officer in a motorcycle race. There was a crash and he went to render aid. He asked the driver why he didn’t break. The man replied that he was having stiffness in his hand and if he braked he would not be able to speed up again so he took the risk of going into the turn fast. Her husband had him squeeze his hand and made a tentative diagnosis on the spot.

At lunch many awards were made. Margaret and many others received gifts

There is also a book that will be available called “How to adapt your house”.  This book with be very helpful for patients with DM. It may sell for L10 with L6.5 for shipping and handling. ( Ask Margaret about the details??)

 

Workshop on Congenital Myotonic Dystrophy in the PM

Paula Nicolaides
Royal Liverpool Children’s National Health Service Trust
Liverpool, England

Stated that the incidence of CMyD is one in 3500 (NOTE This seems low. I check with Dr. Brooks later and he confirmed that standard DM incident is 1 in 5000 to one in 8000, The congenital form is more like 1 in 100,000) She talked about Talipes Clubfoot and the pronunciation is “Tal-ah Peas”. Babies with this disease may have this. They also present with a “frog-like posture” They tend to have an expressionless face and low tone, and present as a floppy baby. The CMyD type has a type of maternal factor that has been implicated. With brain imaging MRI they show ventricular dilation. Other Factors:

 

disturbance of Speech and Swallowing

Smooth muscle constipation or abdominal pain

behavioral problems ADHD

Intellectual and psychological difficulties

cardiac Involvement

Gill Holmes
Senior Physiotherapist
Alder Hey Neuromuscular Clinic
Liverpool, England

Generally kids will be behind in most or all of their milestones.
Role that the physiotherapist plays:

Initial Assessment
Ongoing assessment
Advice on
    Stretching
    Seating
    braces
Also consults with local Physiotherapist

Seating

-May need special seat if there are spinal Problems
-need supported seating for feeding might be special seat
-Liverpool provides this equipment

Standing

-May need a prone stander
-May need a flexistand
-Then they may need orthotics
must be very patient in working with these kids
-They may have flat feet and need Orthothics
-AFO’s or night splints

Speech and Swallowing Problems

Presenting Problems

Poor Intake
Poor Weight Gain
Spends a long time eating small amounts
Coughing and choking episodes
Uncoordinated and Messy eater
Recurrent chest infections
Food Refusals

Assessment

How child communicates
Appropriate positioning and seating
Coordination of sucking, swallowing, and breathing
Control of tongue, jaw and palate movements
How child expresses hunger and food preferences

Implementation

-Use mealtimes as an opportunity for communication
-encourage child to choose
-Use pointing signs or symbols if appropriate
-Make sure child is well supported with head in midline and chin tucked in
-Use special seating if necessary

Sucking

-Should be efficient with small rhythmic movements
-jaw stability and drawing in cheeks are important
-help from an adult may be required
-prolonged sucking can prevent child from developing more mature eating and drinking skills
-ability to swallow safely is contingent upon no unexplained respiratory problems or coughing during feedings
-video fluoroscopy can help determine the nature of any problems

Oral Motor Skills

-These are important for eating drinking speech and saliva control

Jaw Control

-Stable base from which tongue can move
-helps eating and drinking to be sufficient
-can be provided by an adult if the child will tolerate this
-problems with jaw can lead to poor sucking drooling and loss of food from mouth
-poor side to side control causes basis of chewing problems
-recommend early introduction of cup feeding
-drinking can help with more varied and complex motor skills
-helps child practice controlling liquid in mouth

QUESTIONS FROM AUDIENCE:

Constipation how to handle this??
-High Fiber diet
– One parent wanted to avoid relaxants
-The panel suggested stool softeners which makes the stool come out easier. It draws water into the stool. A product called laculose an undigested sugar was suggested to try.
– One parent said that everything was okay in a familiar environment but in unfamiliar environments is where the problems occurred.
-Stool softener again recommended
-The panel recognized that this is a social problem
-Another parent was concerned with a “Leakage” Problems when there was fecal incontinence. The panel suggested that the rectum might be full and leakage was occurring around it. They again recommended a stool softener.

Question: Is drug therapy appropriate for ADHD

_Panel yes under some circumstances see your doctor
-IT is an appetite suppressant so be aware of diet
-Watch out for anorexia nervosa

Question: Child has problem in swallowing liquids. Could only drink a cup a day and liquid comes out of nose.

-Add a thickening agent to the fluid is drinking is difficult
-Look at more wet food, and thickening agents-

 

Question: Does exercise help the condition?

Answer: One study showed that moderate exercise helped. Also a person with DM answered from the audience in his personal opinion it did not help once the muscle is gone it is gone

 

Sir John Walsh
Alder Hey Children’s Hospital

Talipes
    These type of problems are very complex to solve   
    Recommends early stretching exercises
    Can use plaster techniques
    Can not correct more than flex allows with plaster
    Better to cast a little change at a time if large changes required
    Skin Problems can occurring with casting
    All surgical remedies causes scar tissue
   

After this session we had to leave, it was a great day and ended much too soon. We have to thank the Myotonic Dystrophy Support Group in England for all their great hospitality and hope to see them all again soon. This is an annual conference and we do hope that you may be able to attend in future years. Information about the conference will be posted on the site as soon as it is available.

Richard and Jenina Weston
Crystal Lake, IL USA

 

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Otitis media. – Ear infections

 
OTITIS MEDIA(OM)
OTITIS MEDIA(OM)
Is currently the most common childhood disease with peak incidence in the first two years of life. Although OM during childhood is nearly universal, about 5-20% of children have recurrent OM and chronic OME. Besides age, several characteristics have been identified as risk factors of OM, including male gender, Caucasian, and Native American race, and family history of OM. Children with CMD are at risk for OM. Why is this? Two theories. One is that the growth of the skull with Children with CMD may affect the drainage of the ear. The other theory is that the muscle that regulates the Eustachian tube does not function properly. The Eustachian tube has 3 principal functions of

 Allowing air into the ear to ventilate
 Protection of the ear  (closing tube off)
 Allowing fluids to drain from the ear

It is still not know why ear infections continue to plague children with CMD.

 

Defined: Otitis Media (Ear infection) is defined as an inflammation of the middle ear.

Recurrent Otitis Media: There are several definitions.. Three episodes of OM before age 1,3, 0r 7……..Six or more episodes before age 6…… six or more episodes in a 12 month period

Otitis Media  can be observed in children with and without symptoms. The most common symptoms will be related to respiratory infections. Other symptoms may include earache, loss of appetite, fever, restless, sleeplessness

Antibiotic Treatment:

Antibiotic treatment is becoming more complex and more bacteria have a high level resistance or reduced susceptibility to commonly employed antibiotics.  Children may also benefit from antibiotics given prophylacticly (as a precaution against infection returning) Sulfoamides and Amoxicillin would be the two agents of choice according to   Roberts. Amoxicillin should be restricted, however, as it might promote resistant bacteria. Sulfoamides showed an 86% reduction in OM in one study.

Surgery-Placing Ear Tubes

Myringotomy with Tympanostomy tube insertion is the most common surgical procedure performed in children requiring general anesthesia. The reported rate of Myringotomy in 1986 in USA was 58,000 cases. The procedure is basic to cut a small slit in the eardrum and to insert a small tube to allow for ventilation and drainage. The procedure is almost without pain. For older folks who can hold still it can be done without a general anesthetic. For kids a general anesthetic is required in most cases. The tube will stay in for about 6 moths unless a long term tube is inserted,

Indications for Surgery: Recurrent Otitis Media refractory (not responding to) to antibiotic therapy, persistent OEM for greater than 3 months with associated hearing loss greater than 20dB

Tubes can be of Short term or long term insertion. Longer term tubes might be indicated if recurrent Otitis Media continues to occur. There are some downsides to longer term insertion though. Some studies follow on long term tube

 

Management of Otitis Media for CMD

First parents must be very diligent in reviewing this problem  as the chance for Ear Infections is very high. Sometimes the children will not report the symptoms with OM. My son Christopher for example we find out that he has this condition when he stops eating, is listless, and has a temperature. When we even suspect this we make sure that he is seen that same day and antibiotics started.

Chris has had 5 sets of ear tubes put in all of the short variety. These seem to immediately clear up his ear infections. However, they have only stayed in for a short period of time and then they disappear. You have to be careful about getting water in the ear with swimming and showering. Chris had the more secure T tubes placed when he was 9. These work well and will stay in for a longer period of time

 

Hints: Find a hospital and doctor that is willing to work with you. You will need to educate them on this subject and particularly that kids with CMD have high susceptibility to this disease. We knew very often that Chris would have an ear infection and would make an immediate that day appointment with the pediatrician.

For Surgery find a kid friendly hospital. We have gone to two hospitals. One required a lot of pre surgical workup including drawing blood. Chris has tiny veins and it was much more traumatic to draw the blood than to have the surgery. Find a center that does not require this for young kids with ear tubes.

Remember that you can do ear tubes in a doctors office and it is a relatively easy procedure. You just can move at all during the procedure. Therefore kids have to be put under anesthesia. But the procedure only takes 5-10 minutes at most.

So insist on some kid friendly procedures or find another center!

 

Make sure that you are actively managing your children’s medical care and that the doctor knows that CMD has a high correlation with ear infections.

Long-term middle ear ventilation with T tubes: The perforation problem

 

By Richard L. Goode, MD, Stanford, California

Some 1 million ventilation tube insertions are performed each year in the United States. The majority of these are for otitis media with effusion (OME) in children using tubes that remain in place for an average of 6 to 8 months. Because the failure rate of these short-term tubes is approximately 20%, the otolaryngologist must decide in unsuccessful cases whether to again try medical treatment, reinsert a short-term tube, or switch to a long-term tube, such as a T tube, which will remain in place an average of 36 months. By arbitrary definition, short-term tubes are those that remain in place for less than 12 months, whereas long-term tubes remain longer than 12 months, usually an average of 24 to 36 months.

Although the obvious surgical solution to failure of a short-term tube is to increase ventilation time by inserting a long-term tube, long-term tubes produce certain complications that increase with time; the most serious of these is permanent tympanic membrane (TM) perforation after removal or extrusion of the tube. Although this outcome may be desirable in some cases, it usually requires later closure with a myringoplasty after recovery of eustachian tube function.

There are a number of reports in the literature on the incidence of permanent TM perforation after long-term (years) middle ear ventilation with the T tube. In 12 studies the incidence of this complication varied from 3.0% to 47.5% (3.0% and 3.8% in 2, 5.5% to 7.1% in 6,12.0%to 16.7% in 3, and 47.5% in 1 study), with a mean of 11.5%. If we eliminate the lowest (3%)and the highest (47.5%) studies, the mean is 8.8%. This is significantly higher than the 0.5%to 2.0% perforation incidence reported for short-term tubes (although in some series the incidence is much higher).

Although the reasons for the differences between series are not clear, some principles are evident that can be applied to achieve a low incidence of perforation.

Status of the TM

Insertion of a T tube through a damaged TM, because of either previous tube placement or middle ear disease, appears to produce a higher incidence of perforation. Matt et al. found a 0% perforation incidence when the TM was minimally retracted and a 21% incidence with marked TM retraction. If at all possible, the T tube should be inserted through a normal area of the TM; if the entire TM is abnormal, a higher incidence of early extrusion and perforation should be expected.

Duration of Ventilation

In individual OME cases, the minimum ventilation time needed to achieve a cure is not known. This is particularly true when a previous tube has failed, presumably because it came out too soon. This suggests that a longer ventilation time is required but does not define how long. Because the incidence of perforation increases the longer a tube is in place, another way to decrease this complication is to remove the T tube sooner than the average 36 month retention time. What is a reasonable treatment time that is likely to be successful with an acceptable perforation incidence? In the usual case, I would suggest 18 months as the time to consider removal. This period is about three times longer than the average duration of a short-term tube and would be expected to produce a perforation incidence about three times that of a short-term tube, around 4% to 6%, all else being equal. In my opinion, this is an acceptably low perforation rate. After this time period, the incidence gradually increases to the 8.8% level (average of 10 studies previously noted) at 24 to 36 months and then levels off.

Inglis et al. found that the average time for T tube retention in ears with no perforations was 17.5 months, whereas the average time in the perforation group was 21.5 months. They also recommended consideration of removal at 18 months.

Because the T tube has the unique property that it can usually he removed painlessly in the office without anesthesia, its duration is under the control of the physician. Unfortunately, it may not be obvious whether 18 months is an adequate duration so that tube removal is not followed by another recurrence of OME. In many cases it may be wiser to warn the parents of the increasing complication rate but to leave the tubes in place. Moving the tubes from one TM site to another at 18 months is a consideration but would require another anesthetic.

Other factors are important in this decision, including age, size, other tube complications (drainage, plugging), time of year, and so forth. Regular eustachian tube testing during the ventilation period has been advocated by some authors to determine whether adequate function has returned. Although such testing can be helpful in the removal decision, repeated eustachian tube testing is not routinely used.

Early summer is a good time for removal because OME and upper respiratory infections are less common and water sports are more popular. In bilateral cases one tube can be removed at a time; the second tube is removed 4 to 6 weeks later if the first ear is doing well. If the

OME recurs, the tubes are reinserted at a different site in the TM.

Not All T tubes Are Alike

The “softness” of the tube and the length of the flanges can be factors and may differ from manufacturer to manufacturer. For example, silicone rubber can vary from a durometer of 15 or so (soft) to 45 (hard); softer and shorter flanges appear to produce less damage to the TM on extrusion. Although no definitive data are available, it is my impression that the average retention time correlates well with flange length; shortening the flange length by half, from 4 to 2 mm, decreases retention time by half, all else being equal. This would decrease the T tube average retention time from 36 to 18 months. A tube with 3-mm flanges would remain in place for 27 months, whereas a tube with 1.5-mm flanges would remain in place for about 13 months.

Removal Versus Extrusion

Removal of T tubes appears to produce fewer perforations than extrusion. Matt et al. found a 0% incidence of perforation when T tubes were removed, rather than allowed to extrude. Removing a tube earlier rather then waiting for later extrusion may be more important than increased TM trauma caused by extrusion.

Risk/Cost Considerations

In adults, tubes can be inserted at the physician’s office with the patient under local or topical anesthesia, so cost and risk are relatively low. This is not the case in young children or infants, in whom a general anesthetic and surgical facility are required, increasing the risk and cost. The goal is to produce a cure with a minimal number of procedures. Certainly two or more short-term tube insertions are not as desirable as one long-term tube insertion,assuming the same cure rate. Are two short-term tube insertions much different from one long-term tube insertion and a later fat plug or fascia myringoplasty? Assuming two general anesthetics in each case, the difference to the patient may be small. Cost may vary depending on whether a “package deal” is available for tube insertion but not for myringoplasty.

OME cases suspected of requiring long-term ventilation for cure (children younger than 2years and children with craniofacial anomalies, cleft palates, allergies, etc.) should have along-term tube inserted as the primary tube to minimize the failure rate. As the risk of perforation increases with time, the tubes can be moved, removed, or left in place, depending on the ease.

In summary, I suggest that the best treatment solution after failure of a short-term tube for OME in children is to insert a soft-flanged T tube, ideally though a normal area of the TM, and to reassess it at 6-month intervals regarding need. Shortening the flanges to 2 to 3 mm maybe advantageous in some cases. At around 18 months, assuming no evidence of continuing eustachian tube dysfunction, tube removal in the office can be considered and discussed with the parents. If perforation rates greater than 4% to 6% are considered too high, the tubes can be removed; otherwise they should stay until the physician believes a cure has been obtained. It is hoped that with improved eustachian tube testing, identification of when a tube can be removed will become a science rather than an art, as it is now.

 

Lowering the Incidence of Perforation Following Goode T-Tube Removal

Presented at the American Society of Pediatric Otolaryngology Annual Meeting May 19th,

1990, Toronto, Canada

by Andrew F. Inglis, Jr., M.D.; Mark A. Richardson, M.D.; Taya S. Higgins, R.N.

Abstract

A recent report has described an alarmingly high incidence (12%) of tympanic membrane perforation following T-tube insertion. This prompted a prospective study of our experience. All patients at Children’s Hospital and Medical Center undergoing elective removal of T-tubes by the first author between 6/1/89 and 8/31/89 were evaluated for tympanic membrane perforations. In cases where spontaneous extrusion occurred in the contralateral ear, the findings in these ears were included as well. Follow-up was performed at one month in all patients and at three months in patients with tympanic membrane perforations. One hundred four (104) ears completed the study. Seven ears had persistent perforations, for a perforation rate of 6.7%. One of these perforated ears had a mild (22dB PTA) hearing loss. Our current indication for T-tube placement and potential mechanisms leading to the formation of tympanic membrane perforations following T-tube removal will be discussed. We attribute our lowered incidence of perforation to two factors which greatly reduced the trauma to the tympanic membrane following T-tube removal: first, we used a soft silastic tube with short flanges: second, prior to T-tube removal, we pre-treated the ear with a non-ototoxic antibiotic eyedrop for three days to soften the adhesive crust which forms between the tube and the tympanic membrane.

Tympanostomy tube placement is an effective surgical procedure for reducing the incidence of recurrent acute otitis media, and for reversing the hearing loss of otitis media with effusion. Several styles of tympanostomy tubes are available but they generally fall into one of two categories: 1) those which usually extrude spontaneously and 2) those which usually require removal following presumed maturation of the patient’s immune system and eustachian tube function. Soft silicone T-tubes (SSTT) fall in the latter category. They have the advantages of a relatively low spontaneous extrusion rate and removal that can be simply and safely performed in the office. The main disadvantage of these tubes is the previously reported high rate (12%) of residual tympanic membrane™ perforations following removal. This report instigated our own investigation.

Materials & Methods

Fifty-eight consecutive patients undergoing elective removal of SSTT’s between 6/1/89 and 8/31/89 were enrolled in the study. The overwhelming majority of these patients had undergone SSTT placement with short-flanged soft silicone Goode T-tubes (Medco Catalogue Number T5030) which were shortened to about 3 mm. intraoperatively prior SSTT tube insertion. Ears were pre-treated for three days immediately prior to SSTT removal with Sulfacetamidel prednisolone (Blephamide®) ophthalmic drops three times daily and just before entering the exam room. Patients were restrained as necessary and the SSTT’s were visualized with an operating microscope and removed with cup forceps. The integrity of the TM was checked one month following SSTT removal. Patients with intact TM’s had an audiogram at this time, if requested by the family. Patients with residual perforations were asked to continue water precautions and a follow-up examination was performed in another two months. The integrity of the TM was reassessed and audiograms were obtained. Patients were considered to have a residual perforation if the TM had not healed by the second follow-up visit, or if the TM had not healed at the first follow-up visit and they failed their  second appointment. Patients were excluded who failed all follow-up. In two instances, because of great traveling distances involved, follow-up was obtained by telephoning the patients’ private physicians. There were a few instances of spontaneous extrusion of the tube in the contralateral ear. The findings in these ears were also included in the study.

TABLE 1

Patients Entering Study:

N=58

Patients Completing Study:

N=52

Healed TM’s:

N=97 (93.30%)

Residual Perforations:

N=7 (6.7%)

Average PTA of Perforated TM’s:

15 dB

Average PTA of Contralateral, Healed TM’s:

14.5 dB

Average Intubation in Healed TM’s:

17.5 mos. (7-40 mos.)

Average Intubation in Perforated TM’s:

21.5 mos. (10-40 mos.)

Spontaneous Extrusions:

N=10 (9.60/0)

 

 

Results

Results are summarized in the table above (Table 1). A total of 58 patients with 115 ears were entered into the study. One hundred and four ears met our criteria for completing the study. There were no instances of significant trauma to the ear canal or TM from patient movement during removal. Ninety seven (93.3%) TM’s were intact at the completion of the study. There were seven ears (6.7%) with residual perforations. Of these, two failed their second follow-up visit. Only one ear with a residual perforation had a PTA of greater than 20 dB. This patient’s PTA was 22. The average PTA in ears with residual perforations was 15 dB, and the average PTA of the contralateral healed TM’s was 14.5 dB. In one patient, hearing in the healed ear was worse because of ongoing Eustachian tube dysfunction. Due to failed appointments, three ears with residual perforations were not tested audiometrically. The average age of the patient at the time of tube insertion in the patients with intact TM’s was 25.0 months and in patients with residual perforations was 24.5 months. The average length of time that the SSTT remained in TM’s which eventually healed was 17.5 months (range 7 months to 40 months) compared with 21.5 months (range 10 months to 40 months) in patients with residual perforations. There were 10 ears in which a spontaneous extrusion occurred. This represented an extrusion rate of 9.6%. None of these ears had residual perforations.

Discussion

As previously mentioned, SSTT’s have the distinction of being easily removable in an office setting with a low spontaneous extrusion rate. As Dr. Goode has pointed out, this is advantageous both when the anticipated need for adjuvant middle ear ventilation is on a short or long-term basis. This tube most closely approaches the ideal situation where intubation time is determined by the otologist rather than the vagaries of spontaneous extrusion.  For most indications, we find a tube with a 12% rate of residual perforation, as previously= reported, unacceptably high.

However, lower rates of residual perforation can be achieved. We attribute our lower rate of residual perforation to our efforts to reduce the tube trauma to the TM. This includes the use of soft silicone style ear tubes with shortened flanges and the care taken to soften the adhesive crust which forms between the ear tube and the tympanic membrane prior to removal of the tube.

Tube re-insertion rates should be markedly decreased with a longer-acting tube. In general, around 20% of patients will require multiple insertions when using spontaneously-extruding tympanostomy tubes. We believe this is in part because of the relatively short tube retention time of tubes such as the Shepard, Armstrong, or Donaldson variety. Over 40 % of the formern two tube types will be extruded in nine months. When SSTT’s are inserted in the young.ear patient for recurrent acute otitis media, one can generally count on the patient’s middle ears remaining ventilated through two consecutive otitis media (winter) seasons. This is not the case with the spontaneously extruding tubes. The overall incidence for re-operation (either repeat ear tube placement or closure of a residual perforation) is probably reduced in select populations when the longer acting SSTT’s are used.  The residual perforation left following removal of SSTT’s is generally not a severe  a few decibels of hearing loss. The perforation assures continued ventilation of the middle ear space, and in cases of unilateral residual perforation, the perforated ear may be more trouble-free than the opposite ear. Corrective myringoplasty generally requires only a fat patch technique and can occasionally be performed in the office. The main drawback to a residual perforation is the need for continued water precautions until the patient’s eustachian tube function enough to promote a high rate of successful myringoplasty.

The factors causing the higher incidence of tympanic membrane perforation with SSTT’s are unclear. Spontaneously-extruding tympanostomy tubes achieve extrusion and TM integrity simultaneously. With SSTT’s, these events are separate. Another factor is the length of the time that the ear is intubated. The longer intubation time obtained with SSTT’s may encourage maturation or stabilization of the mucocutaneous junction of the perforation preventing healing of the TM following SSTT removal. We now generally limit our intubation time to 18 months. Another cause of residual perforation may be the actual trauma of SSTT removal. There usually is an adherent crust connecting the TM to the SSTT. Before our practice of dissolving or at least softening this crust with eyedrops, large portions of the TM were frequently avulsed during tube removal. This rarely occurs following proper softening of the crust. A further source of trauma may be from the stiffer plastic and longer flanges used in other forms of T-tubes prompting our use of softer short-flanged tubes.

There is an unusual situation which uniformly results in a residual perforation. Following a bout of otitis media, the TM may fail to heal around the shaft of the SSTT and on exam the tympanostomy tube appears to be located within a larger perforation. The etiology is obscure, but may be related to partial necrosis of a vulnerable TM area during the infection.  Given our experience with a lower incidence of residual perforation and the prospect of reducing reintubation, we have the following indications for SSTT usage:

1.Patients with craniofacial abnormalities such as cleft palate in whom long-term middle ear ventilation requirements are anticipated;

2.Patients under one year of age with recurrent acute otitis media (we anticipate the need for adjuvant middle ear ventilation will be at least two winter seasons in these patients);

3.Patients who have a history of worsening of recurrent acute otitis media in the winter months yet require ear tube placement in the late winter, spring, or early summer thus increasing the likelihood the middle ear will remain ventilated through the following winter

4.Patients with attenuated or atelectatic TM’s in whom long-term middle ear ventilation is anticipated.

 

Surgery-Placing Ear Tubes
Indications for Surgery:
Management of Otitis Media for CMD
Long-term middle ear ventilation with T tubes: The perforation problem
Lowering the Incidence of Perforation Following Goode T-Tube Removal

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Personality changes

In standard Myotonic Dystrophy one of the main characteristics of the disorder are “reduced initiative”, “inactivity”, and “apathetic temperament” and social deterioration of the families through generations has been stressed (Caughey 1963)

Because the mother is most often affected with myotonic dystrophy it generally becomes necessary for other assistance to maintain some standard for care for the Child with CMD. Here is one researchers global comments:

“While in the country in search of certain “myotonic’s” homes , it was often possible to identify a residence by its neglected appearance, the obvious need of repairs, the unkempt yard and garden choked with overgrown grass and weeds, which provided a vivid contrast with the surrounding well-kept homes” (Caughey 1963) ”

We have often found that affected individuals, when just mildly incapacitated, were often content to sit or lie idly for hours”

Studies by Brumback found depression to be an integral part of Myotonic Dystrophy using the Hamilton Depression Rating Scale. Bird found that 28% of myotonic dystrophy Patients had high scores on the Minnesota multiphasic personality inventory. Others have found that depression was secondary to the Chronic progression of the disease. Cuthill suggests that depression might occur but that it was seen as a reaction o the disease. In 1998 Bungener published the following information:

Patients with Myotonic Dystrophy were not severely depressed but did present symptoms of mild depression. He mentions that the literature suggests a close association between depression and progressive diseases such as Myotonic Dystrophy.

Patients with Myotonic Dystrophy did have high levels of emotional deficit. It manifests itself as anhedonia (Total loss of feeling of Pleasure in acts that normally give pleasure), lack of expressiveness as evidenced by monotonous mood, apathy, and an inability to anticipate pleasure. This emotional deficit occurs early and researchers that found apathy and lack of motivation are the primary manifestations. Four of 14 patients exhibited an avoidance personality disorder

He concludes that: Patients with Myotonic Dystrophy present a characteristic emotion profile that of emotional deficit, with the deficit appearing early in the disease and which could be interpreted as an adaptive psychological process or a direct consequence of the CNS lesions caused by the genetic mutation.

It is important to understand the personality changes of patients with Myotonic Dystrophy. As it is an autosomal dominant disorder at least one parent generally the mother will have the disease. As the the mother may be the primary caregiver to the nuclear family the personality information that has been elucidated here will have a significant impact on the family.

Full Text studies

Link to personality Study
Link to Study of 25 women with DM
Apathy and Sleepiness
Brain disorder
List of References citing the incidence of CMD Risks of Offspring of Women with Myotonic Dystrophy (Harper 1972)

Normal 50%
Neonatal Deaths & Still births 12%
Severely Affected Surviving 9%
Later Affected 29%

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Products that can help

 
PRODUCTS THAT CAN HELP
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Pre-implant genetics

Ned Tijdschr Geneeskd. 2004 Dec 11;148(50):2491-6.                 Related Articles, Links

Results from 10 years of preimplantation-genetic diagnostics in The Netherlands

[Article in Dutch]

de Die-Smulders CE, Land JA, Dreesen JC, Coonen E, Evers JL, Geraedts JP.

Afd. Klinische Genetica, Academisch Ziekenhuis, Postbus 5800, 6202 AZ Maastricht. christine.dedie@gen.unimaas.nl

OBJECTIVE: To report the data from couples who were referred for preimplantation-genetic diagnostics (PGD) and treatment due to a significantly increased risk of offspring with a serious genetic disorder. DESIGN: Descriptive, prospective. METHOD: Data were collected from couples that underwent PGD in the period 1993/’03 at Maastricht University Hospital. Embryos produced by means of in-vitro fertilisation (IVF) were subjected to genetic tests several days after fertilisation. Subsequently 1 or 2 unaffected embryos were transferred to the uterus. Where there was an increased risk of a male with an X-linked genetic disorder, the gender was determined using fluorescence in-situ hybridisation (FISH). This method was also used to detect structural chromosomal abnormalities. The polymerase chain reaction (PCR) method was used for mutation detection and/or marker analysis of monogenetic disorders. RESULTS: A total of 691 couples were referred for PGD. The most frequent indications were X-linked disorders (30%), in particular Fragile-X syndrome, Duchenne/Becker muscular dystrophy and haemophilia A/B. This was followed by autosomal dominant disorders (26%), such as Huntington’s disease and myotonic dystrophy, and then structural chromosomal abnormalities (24%). A total of 120 women underwent 260 PGD cycles. An embryo transfer was possible in 158 of the cycles and this resulted in 45 successful pregnancies. The pregnancy rate was 17% per cycle initiated and 28% per cycle with embryo transfer. Up until december 2003 29 singletons, 8 sets of twins and 1 set of triplets were born. There were no misdiagnoses and none of the babies had congenital abnormalities. CONCLUSION: PGD was a reliable and successful method, with pregnancy rates similar to those of IVF or intracytoplasmatic sperm injection. PGD should be stated as an alternative during the preconception counselling of couples with an increased genetic risk, especially for disorders where PGD can be routinely applied, such as Huntington’s disease, myotonic dystrophy, cystic fibrosis, spinal muscular atrophy, Fragile-X syndrome and structural chromosomal abnormalities.

Shona has a great blog on having kids with DM1. She now has two healthy kids without Myotonic Dystrophy due to This preimplant genetics!! Click here for her Blog

About Me

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In 2006, I found out I had got Myotonic dystrophy, Type 1. This blog is about coping with this bombshell and how we have been able to start a family without passing on the condition. Before I started this blog, using IVF and PGD, we had already made Dexter. Now readers have followed our journey as we managed to get him a sister called Tabitha who arrived in November 2011.
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