M S U D Newsletter

 

Articles selected from Vol.14, No.2 , Fall/Winter 1996-97

 

SYMPOSIUM â96 REVIEW

 

The MSUD Symposium, held this year on June 20 through 22 in Columbus, OH, is history.Ê History should be recorded.Ê So this issue of the Newsletter will attempt to help those who attended the conference to recall some of the information and good times, and also share it with those who could not be there.

 

Dave and Sandy Bulcher did a super job, planning and putting on such a great, well-organized event.Ê They are still involved in follow-up projects and tying up loose ends, such as passing on information and material to the PA group for the â98 Symposium.

 

Tish Fuller took notes on the talks given at the Symposium.Ê I was able to listen to the taped speeches and add some information to her notes.Ê Most speakers used visuals and handouts, which complemented the presentations.Ê In the following summaries, I attempt to cover highlights of the speeches.

 

Due to the good response from the families during and since the Symposium, I have more material than will conveniently fit into this Newsletter.Ê So the following summaries only cover the speeches given the first full day (Friday) of the Symposium.Ê I expect to cover Saturdayâs speeches and activities in our next (spring/summer) issue.Ê That issue will include material on sibling issues, nutrition, self-esteem and descriptions of MSUD treatment in Chile and Australia.

 

History of MSUD

Presenter: John Menkes, MD

 

Dr. Menkes is professor Emeritus of Neurology and Pediatrics at the University of California School of Medicine.Ê He was a pioneer in identifying MSUD.Ê MSUD treatment has come a long way and we have persons like Dr. Menkes to thank for beginning the process.

 

The first known case of MSUD was a patient in 1945 at the Massachusetts General Hospital.Ê This baby lived two months.Ê The family name was Hook and Dr. Menkes saw a sibling of the first identified baby.Ê [Dr. Menkes said he would like to hear from the Hook family if anyone knows how to contact them.]

 

This sibling was admitted on the second day of life for observation and did well until breathing problems developed on the third day. The baby became irritable, had peculiar cries and stiffened.Ê The peculiar urinary odor was noticed on day six.Ê The mother had noticed that smell on two of her babies who died, and said it smelled like maple syrup.

 

The neurologic symptoms progressed very rapidly.Ê The baby became stiff, unable to suck, could not breathe, and finally seizured.Ê The cortex or surface of the brain is affected late, resulting in seizures.Ê He then developed convulsions and pneumonia and died at 14 days of age.Ê Doctors could do nothing for him.

 

Two of the 4 children with MSUD in this Hook family did not have convulsions.Ê All 4 of the children had difficulty in breathing and had the odor.Ê Disorders of breathing were the first signs noted and are associated with brain stem swelling. Observations proved the lower or vital functions of the brain were affected first before the higher or cortex part of the brain that regulates intellect and thinking.Ê Dr. Menkes, Peter Hurst and John Craig wrote a paper about the four siblings entitled ãA New Syndrome: Progressive Familial Infantile Cerebral Dysfunction Associated with an Unusual Urinary Substance.ä

Dr. Menkes felt the clue to the disorder was in the odor.Ê In â57 he obtained urine from another child. Ê(This was a brother of Cindy Blau who was at the Symposium.)Ê There was no way to determine the composition of real maple syrup, so he wrote to Eastman‑Kodak to learn what was used in their artificial maple syrup.Ê TheyÊ used a cyclic ketone.Ê He found the boyâs urine positive for cyclic ketones.

 

Dr. Menkes tested a blood sample from a case of MSUD in England for keto acids, using filter paper chromatography.Ê He found elevated keto acids.Ê He published a paper showing the keto acids were elevated about the same time Dr. Dansis wrote a paper showing the BCAA were elevated in MSUD.

 

The BCAA are first broken down into their keto acids, a complicated step requiring a number of enzymes.Ê In MSUD the problem is in the breakdown of these keto acids.Ê The maple syrup odor is a reaction product of a keto acid, a derivative of one of the BCKA.Ê These keto acids normally smell like Swiss cheese.

 

In 1958 Dr. Menkes spent many hours synthesizing the compound (a cyclic ketone) he identified with the odor and was devastated when he could smell nothing.Ê At home that night his wife said, ãYou smell horrible!äÊ He was saturated with the maple syrup odor, which was so powerful it had temporarily paralyzed his sense of smell.Ê

 

Dr. Menkes remembered the time Cindy Blau was diagnosed and was the first child with MSUD to be treated.Ê He asked her mother, who was attending the Symposium, to tell about Cindyâs early treatment.

 

Mrs. Blau said, ãThirty-seven years ago I would have been absolutely so happy to have had the support that all the families have now.äÊ Cindy was in the hospital for the first 4 ¸ years of her life.Ê She was sick many times and every time they tried to take her home, she would have another crisis.Ê When she came home, every day was a time of trial and experimenting.Ê She was the patient of Dr. Selma Snyderman in NY and is the oldest person living with MSUD.Ê She lives independently with the help of the organization, On My Own.

 

Dr. Menkes then explained how the early treatment required formulas to be prepared daily by measuring, weighing and mixing each separate, pure amino acid.Ê Neither was there an easy way to measure amino acids in the blood, and it took awhile to get test results back.

 

 

Neurologic and Dietary Management of MSUD

Presenters: Richard Allen, M.D. & Anna Marie Schaefer, R.D., MPH.

 

Dr. Allen is the director of the Pediatric Neurology Metabolic Clinic at the University of Michigan in Ann Arbor.Ê Anna Marie is the senior nutritionists for the clinic.Ê They provided a handy booklet prepared by the clinic staff which summarized their talks and displayed charts to which they referred.

 

Because he had read Dr. Menkeâs paper, Dr. Allen was able to identify a baby with MSUD in the 60s.Ê Initially, the baby was thought to have meningitis.Ê His second patient was Monte Brubacher who was the first infant with MSUD to be identified by newborn screening (NBS).

 

Dr. Allen mentioned that there have been some big changes in the management of MSUD from the first parent meeting in â82 to this meeting in â96.Ê NBS has made a difference in the outcome, but a well organized program is necessary.Ê Parents, like those at the meeting, who represent a lot of states, are needed to support screening for MSUD.

 

Dr. Allen stressed the importance of early detection of MSUD, and the difference each day of delay can make in the final outcome.Ê Michigan began NBS in 1987.Ê Dr. Allen and his staff were instrumental in developing the current Michigan program.

 

Only leucine is measured in NBS tests.Ê When Michigan babies with an elevated level are brought to the attention of Dr. Allenâs clinic, lethargy and early stages of coma may already be evident.Ê Dr. Allen believes the sensitivity of the equipment to detect MSUD within 24 hours is necessary in the NBS program, especially with mothers leaving the hospital early.Ê Earlier detection is also better for the baby.Ê The Bacterial Inhibition Assays begun in the 60s, and still being used in state labs, are not precise enough to detect MSUD within 24 hours.Ê Parents need to continue to push for testing that is properly sensitive.

 

[As I was getting this Newsletter ready for printing, I heard discouraging news.Ê The old testing equipment is being replaced in several states with new, more sensitive equipment, as Dr. Allen mentioned.Ê However, the new programs are not adding the test for MSUD.Ê The excuse is that MSUD is too rare to be economical to test.Ê Colorado and Wisconsin recently dropped MSUD from their screening programs.Ê Parents, find out what is going on in your state.Ê Dr. Allen is right; the problem is often monetary.Ê How can the health of these children be compared to money?]

 

The diagnosis is only the first step and Dr. Allen stressed the importance of early intervention and proper follow up.Ê It is important to find a medical center that can provide properÊ treatment.Ê At Ann Arbor, Dr. Allen can run a level from a blood spot as quickly as Fed Ex can deliver the specimen to his lab.Ê All the amino acids can be monitored from a blood spot easily obtained by parents at home.

 

Peritoneal dialysis was initially a key treatment for acutely ill children with MSUD.Ê About 1990, Dr. Gerald Berry wrote about the use of TPN (Total Parenteral Nutrition) for MSUD.Ê TPN (with branch chain amino acids removed) is immediately used on newly identified babies in Michigan.Ê Normal babies lose weight in the first 5 to 10 days increasing the metabolic disturbance.Ê It is important to reactivate the metabolism to utilize these amino acids and clear the toxic compounds more quickly.Ê Peritoneal dialysis left the babies still critically ill.Ê Dr. Allen uses TPN for every bout of metabolic crises in MSUD.Ê He believes it is the most effective form of treatment.

 

He stated that in metabolic diseases, especially in MSUD, the brain is affected much differently in the first 5 to 10 days of life than at 5 or 10 years.Ê The age at which these compounds get to the brain makes a difference.Ê The goal is early detection (through NBS) to prevent neurological consequences.Ê An MRI is important for neurological MSUD issues because it shows the chemistry of the brain.Ê Cerebral edema is identified by areas of whiteness on an MRI.Ê Dr. Allen has studied the MRIâs of MSUD patients.

 

Dr. Allen was impressed with the article titled, ãQuiet Miracles of the Brain.ä in the June 1995 issue of the National Geographic.Ê Although it is not MSUD specific, it is educational and explains brain development.Ê We wereÊ encouraged to read that article.

 

A coma scale is the first line of analysis of an acute event in MSUD.Ê Eye muscle paralysis is another sign that a certain region of the brain has been insulted.Ê Loss of suck is an early, crucial, neurologic sign.Ê Some hospitals mistakenly manipulate the feeding to correct the suck instead of considering a diagnosis. Ataxia in the older child does not require urgent treatment but checking with DNPH and getting a blood level.

 

Dr. Allen stated MSUD was not treated as well in earlier years as we are doing now.Ê With TPN, early diagnosis, early intervention, and systems providing early treatment, we can have good outcomes from now on.

 

Dr. Allen introduced Anna Marie Schaefer as his colleague, a very qualified nutritionist, who has been with him many years.

 

Anna Marie began by reviewing treatment goals:Ê (1) Control amino acidsÊ (2) Achieve recommended dietary allowances (3) Normal growth and development

 

Thirteen years ago when Anna Marie started in Dr. Allenâs clinic, the only available medical foods were the Gibco Amino Acids from New York and MSUD Diet Powder.Ê In the last ten years we have all benefited from the addition of other formulas.Ê These medical foods vary in the amounts of protein equivalents, fat, carbohydrates and calories provided.

 

Anna Marie explained the three day diet record brought in by each mother before a clinic visit.Ê Computer programs are used to analyze the diets of children with MSUD.Ê The computer printout supplies a great deal of information including how much of the recommended daily allowances (RDAâs) are being met for protein, calories, each amino acid, vitamins and minerals.Ê This aids the nutritionist in making diet recommendations.

 

An MSUD Datagram is kept on each child providing a complete record of blood levels, dietary leucine, clinic visits, hospitalization information and neurological status.Ê The blood levels are monitored between clinic visits by taking blood at home using a heel prick to fill blood spots on a Guthrie card.Ê Good management requires good record keeping.

 

Anna Marie described the observations and management of an ill child.Ê She explained the chart of a child whose vomiting episode was treated at home, and the cooperative effort required between the parent and clinic staff.

 

More seriously ill children may need to be hospitalized and given BCAA-free TPN (hyperalimentation).Ê The goal is to provide BCAA-free amino acids intravenously with 10% dextrose and lipids (fats) for 2 to 4 days to allow neurologic and metabolic recovery.Ê Oral feeding of MSUD formula is begun as early as possible and before TPN is discontinued.

 

Dr. Allen obtains TPN from Coram Healthcare.Ê They can usually get it within 6 to 8 hours. (TPN has a shelf life ofÊ approximately 45 days, limiting storage.) Currently Coram has four centers that are utilizing the Pharmix process for preparing custom TPN solutions, making it available anywhere in the U.S.Ê The centers are located in the following cities:

 

Warren Heights, Cleveland, OH

Mendota Heights, MN

Malvern, PA

Plymouth, MI

 

The Pharmacy Manager of Choram Healthcare may be contacted by parents or professionals for TPN information.Ê Call Linda Carpenter at 800-323-5308.

 

Anna Marie closed by showing the clinical and neurological status of a baby under treatment during the first four months of life.Ê Protein is needed early in treatment to prevent catabolism.Ê Plasma leucine, diet leucine, growth and development must all be closely monitored.

 

 

MSUD: From Protein to Genes to Therapy, Thanks to the Families!

Presenter: Dean Danner, PhD

 

Since 1973, Dr. Danner has been studying mutations that cause MSUD.Ê He is a professor in the Dept. of Genetics and Molecular Medicine at Emory University, Atlanta, Georgia.Ê He sincerely thanked the families for their help and cooperation which makes gene therapy possible.Ê He answered technical questions in a relaxed and easy to understand manner.

 

1) What do we know about MSUD?

The function within the cell that is not working is the enzyme, branched-chain alpha‑keto acid dehydrogenase (BCKD).Ê It breaks down the amino acids in proteins.Ê When it doesnât work, the branched-chain amino acids (BCAA) and their keto acids (BCKA) build to toxic levels in tissues and fluids.

 

There is no racial or ethnic preference.Ê Dr. Danner has cell lines from China, Japan, Africa, Saudi Arabia and Turkey.

 

How often does it occur?Ê The incidence is one in 176 in the Mennonite community, 1 in 100,000 in Georgia and 1 in 185,000 in the general population.Ê There is a common mutation in the Mennonite community, but no other common mutations have been found.Ê There was a different mutation in each of the other families he tested.

 

2) What have we learned in molecular genetics?

BCKD is found in the mitochondria.Ê Every cell of the body has mitochondria except red blood cells.Ê The amino acids have to get into the mitochondria and the BCKD must be available to break down the amino acids to produce energy.Ê The chemistry is very complicated.Ê The enzyme is in active form at only 40% in the kidney cells, 3% in muscle cells and maybe 30% in the brain cells.

 

3) How do we detect mutations within families?

Dr. Elsas used the breath test at the Symposium in Toronto.Ê It tests the ability to oxidize leucine.Ê Many of those analyses are still being done because it takes a long time.

 

From blood samples, Dr. Danner transforms white blood cells so they grow in culture.Ê It takes 6 to 12 weeks until they are ready to study.Ê After that he does an enzyme activity and a Western Blot to look for the presence of the E2, E1-alpha or E1-beta protein to see which is missing.Ê (The mutation in MSUD can occur at any of these three subunits of the enzyme complex.)Ê He also looks at the RNA which is produced from those genes and then checks the parent cells to see if they really got this change from Mom and Dad.Ê Using illustrations Dr. Danner briefly explained the complicated tests he uses to find the defective gene in individuals.

 

The combined information from several laboratories has identified 20 mutations on the E1-alpha subunit, 7 on the E1-beta subunit, and 11 on the E2 subunit.Ê One parent may have a different mutation from the other but in the same subunit.

 

4) What has this knowledge done for MSUD families?

Since MSUD is now treated with the protein restricted diet, the old clinical classifications are useless.Ê We need to determine the best treatment for a specific type of mutation.

 

Prenatal monitoring is possible when we know the mutation within that family.Ê Any other pregnancy in that family can be monitored by enzyme assay or DNA analysis.Ê Also other relatives can be tested for the mutation but only at the DNA level.

 

Thiamine responsive MSUD is difficult to identify and is not well understood.Ê It is not a deficiency of vitamin B1 but requires pharmaceutical doses of 100 to 1000 times the normal amount of thiamine (B1).Ê Some clinics give it to all the MSUD patients because of the possibility it might help and it is not dangerous.Ê Patients proven to be thiamine responsive have an E2 mutation.

 

Two other things weâve learned are that newborn screening is very important in averting the consequences of MSUD, and that the diet is necessary for life.

 

5) What questions remain?Ê Are there new questions?

We want to identify all the mutations.Ê The technology is there but we need hands and dollars to do it.Ê As a geneticist, I want to know why these changes cause a dysfunction so better management can be provided.Ê We want to relate genotype to therapy and also identify which is the most important tissue for BCKD function in humans, so we know which tissue to target for gene replacement therapy.

 

The new problem is maternal MSUD.Ê Being on diet, young women with MSUD are capable of reproduction.Ê How do they nurture a fetus who needs a high protein diet to develop?Ê It is necessary to identify when, in the embryonic development, the BCKD is turned on in the fetus.Ê There is a chance the fetus can help the MSUD mom metabolize the BCAAs during pregnancy so she does not get sick.Ê Only one pregnancy of a woman with MSUD has been reported in medical literature and she had a normal baby.

 

6) Future Goals:

Enzyme replacement is probably not possible, but gene replacement or organ transplant (like kidney) is a possibility.Ê However, after identifying the best tissue, how do we deliver the corrected gene and how often will replacement be necessary?Ê There is hope that gene replacement could be possible÷it is possible now in the lab÷but it wonât happen tomorrow.

 

Dr. Danner is developing an MSUD mouse.Ê An animal model is needed to study the neurological complications in gene replacement therapy and to detect during pregnancy when the fetus can begin to handle the leucine overload so the MSUD mother can increase dietary protein.

 

Questions answered:

Enzyme activity is no gauge of phenotype or how well protein is tolerated.Ê One carrier father has 2% activity level and is perfectly normal.Ê Both carrier parents of two children severely affected have 100% enzyme activity.Ê A child with severe clinical signs of MSUD can have activity level at 20 to 30%.Ê Another child can be doing very well with less than 1% enzyme activity.Ê We donât know that much about the enzyme activity.Ê Other genes interact and persons respond differently.

 

Are persons with MSUD missing something by not getting energy from protein?Ê Biochemically it takes more effort to make energy from protein than from carbohydrates.Ê So most energy comes from carbohydrates, except when they are lacking, then it comes from protein.Ê Muscles may fatigue more quickly because they cannot activate the enzyme to get rid of toxic products.Ê Muscles have only 1 to 2% of the active form of the enzyme.

 

In comparison to PKU research, we are not as advanced.Ê PKU involves one organ, the liver, and 1 gene.Ê MSUD involves 3 genes, and we still do not know the organ to target.

 

Questions were asked of Dr. Danner about how his research was funded.Ê All of his research funds now come from NIH and it is getting tougher to get funding.Ê Companies will not fund research for such a small group of patients as MSUD.Ê We can write to our Senators and Congressmen to continue and increase the funding for NIH.Ê It is urgent that funding continue to ensure further research efforts.Ê Dr. Danner would gladly provide anything needed to raise funds for his research.

 

Question & Answer Session

Panel members:Ê Richard Allen, M.D., Anna Marie Schaefer, R.D., MPH., Dean Danner, PhD.

 

The issue of classifications was discussed at length.Ê The original classifications included classic, intermediate, intermittent, and thiamine responsive.Ê These descriptions are based on the clinical differences, leucine tolerance and response to thiamine.Ê They do not necessarily correlate with the enzyme assays.Ê The consensus seems to be that with so many unknowns and variations metabolic classifications are inadequate.Ê Determining the mutation may be a better way to indicate type of MSUD.Ê Hopefully a mouse model will help in determining differences.

 

One mother asked about how to increase the calories in the diet of her 14 year old boy who is small and thin for his age.Ê If they add high calorie supplements, his appetite is affected and he wonât eat.Ê Children with MSUD vary in size and weight and it is hard to know what is genetic and what may be the effects of nutrition.

 

A mother said her daughter was turned down when she wanted to give blood.Ê Both Dr. Allen and Dr. Danner said there was no biological reason a person with MSUD can not be a blood donor.Ê However, a knowledgeable person needs to be contacted and not just the person drawing the blood.

 

Doctors in Australia told a mother TPN is too expensive and lipids do the same thing.Ê Dr. Allen explained that TPN has been used all over the world for many years, but TPN for MSUD is revised with the branched-chain amino acidsÊ removed.Ê Massive doses of lipids can cause other metabolic problems.Ê Individuals with MSUD need the protein in the TPN.

 

The best levels to maintain in a child with MSUD depends on whether you are trying to attain a preconceived number or are based on how the child reacts.Ê Would the child grow better with a little higher level?Ê The labels are wrong.Ê Whether the child is classic, mild or intermittent is not important and can lead to confusion.Ê A child that is not gaining weight or losing weigh is catabolic regardless of how ãgoodä the blood level is.Ê Ultimately the child needs to be kept at the level that will keep that child healthy and growing.

 

There are various effective treatments which vary with the individuals and different clinics.Ê But when a child starts showing neurological (brain stem) involvement÷not cerebral edema÷Dr. Allen gives that child TPN.Ê This usually results in a rapid and full recovery without any other treatment.

 

A mother stated there was no doctor or center involved in treating MSUD near them.Ê Dr. Allen says we need to find a way to help physicians and pediatricians understand that MSUD is a real disorder, and there are newer and different ways to treat these children.Ê However, it is still remarkably better than it was 10 years ago.

 

ADHD in Special Needs Children

Presenter: Chip Kobe, PhD.

 

Searching data bases, Dr. Kobe found only 2 articles on the intellectual and behavioral functioning of children with MSUD. ÊHe addresses Attention Deficit Hyperactivity Disorder (ADHD) recognizing that it is secondary to the medical issue in MSUD.

 

The time of diagnosis and the kind of metabolic control play a part in the developmental and behavioral aspects ofÊ MSUD.Ê When in good metabolic control, behavioral issues are probably based upon that childâs personality, but when out of control the behavioral issues may be a part of metabolic control and not normal functioning.Ê Compliance with the special diet is also involved in MSUD.

 

Some areas in which psychologists can be of help:

áÊÊÊÊÊ Developing behavioral modification approaches

áÊÊÊÊÊ Improving adaptive skills

áÊÊÊÊÊ Addressing parenting stress

áÊÊÊÊÊ Developing childâs self confidence and self esteem

 

A neuro-development disorder is characterized by:

áÊÊÊÊÊ Deficits in sustained attention for mental tasks (academic vs. Nintendo)

áÊÊÊÊÊ Difficulty inhibiting behavior÷impulsive, not thinking before they act

áÊÊÊÊÊ Problems regulating activity level÷hyperactivity

áÊÊÊÊÊ Impairment in the ability to use rules and instructions to guide their behavior

áÊÊÊÊÊ Decreased ability to work toward long‑term goals

 

Inattention, impulsivity, and hyperactivity, the core symptoms in ADHD, necessitate changes in lifestyle÷parenting and educational approaches and sometimes medication.Ê These children are prone to relapse.Ê Behavior management takes more time, effort, patience and persistence than with other children.

 

Three to five percent of school age children are diagnosed with ADHD.Ê Currently there is a 3:1 ratio of males to females but 6:1 males are being treated.Ê Many females are being missed.Ê ADHD is found in all countries and ethnic groups.

 

There are few differences in core symptoms in the genders.Ê Females have fewer conduct problems or aggressive behaviors, more learning problems, trouble focusing their attention and more symptoms related to anxiety and depression.

 

There are biological, social, psychological, and developmental factors which influence how children develop and behave.Ê There are also issues involved related to their cognitive development, memory processes, their personality, and also perceptual and motor skills.Ê

 

ADHD primary symptoms:

1. Inattention- impairment that is not typical for their age, problems with attention to detail, donât listen when spoken to, difficulty organizing tasks, easily distracted, forgetful

 

2. Hyperactivity- fidgety, trouble remaining in their seat, canât play quietly, seem to be on the go, excessive talking

 

3. Impulsivity- blurt out answers before questions are completed, difficulty waiting their turn, interrupt others

 

These affect a childâs social skills.Ê Other children pick up these symptoms first, and begin to exclude ADHD children from the group.Ê These children are perhaps not as predictable and donât follow the same routine as the other children.Ê We need to enhance their social skills.

 

May have co-existing problems:

áÊÊÊÊÊ Psychiatric disorders

áÊÊÊÊÊ Opposition or defiant behavior

áÊÊÊÊÊ Conduct problems

áÊÊÊÊÊ Depression÷anxiety

áÊÊÊÊÊ Having a lot of physical complaints with no medical cause

áÊÊÊÊÊ Learning problems in school (MSUD are at risk)

áÊÊÊÊÊ Excessive variability in performance

áÊÊÊÊÊ Not as productive as expected to be

áÊÊÊÊÊ Lower than expected levels of achievement

áÊÊÊÊÊ Emotional problems

áÊÊÊÊÊ Issues of self-esteem

áÊÊÊÊÊ Low tolerance for frustration÷over-react to situations

áÊÊÊÊÊ Peer rejection

áÊÊÊÊÊ Little regard for social consequences

áÊÊÊÊÊ Immature play and social interests

áÊÊÊÊÊ Donât read their social environment÷misinterpret actions of others

 

Parents can do a functional assessment of their child.Ê Be sure to consider the events or situations that occur prior to the behavior.Ê It may be simply a way to get attention or there may be another function to that behavior.Ê Donât jump to the conclusion it is related to ADHD.Ê When does it happen?Ê Is it an issue of metabolic control or are there other stressors?

 

Behavior Management of children with ADHD:

áÊÊÊÊÊ Give immediate feedback and consequences for their behavior.

áÊÊÊÊÊ Give more frequent and higher level feedback and consequences in managing their behavior.

áÊÊÊÊÊ Institute behavioral approaches that use more powerful consequences (star charts, etc.).

áÊÊÊÊÊ Encourage and praise more often.

áÊÊÊÊÊ Always use positives before negatives.

áÊÊÊÊÊ Be consistent over time and in different settings.

áÊÊÊÊÊ Anticipate problems to limit the tendency to over‑react to the childâs problem behavior.

áÊÊÊÊÊ Keep disability perspective in relationship to the childâs behavior (avoid anger/embarrassment).

áÊÊÊÊÊ PRACTICE FORGIVENESS! (for child, yourself, and those who misunderstand the situation)

 

There are effective and scientifically proven treatments for ADHD.Ê Medicine is now accepted along with behavior modification, but there are no studies that look at the use ofÊ medications, such as Ritalin, to treat ADHD symptoms in children with MSUD.Ê The traditional medications used for ADHD do have the side effect of appetite suppression.Ê A new medication may have fewer side effects but is not widely available at this time.Ê Using antidepressants may be an alternative.

 

There is a support group called Children and Adults Having Attention Deficient Disorder (CHADD).Ê Most communities have a CHADD chapter which is a good resource.

 

Parents need training in child management approaches.Ê Some of the intuitive things parents do donât work with ADHD children.Ê Teachers need training in classroom management.Ê They need to know which children have learning disabilities and which ones just need a little extra help.

 

Parents may need to be an advocate for their child to access proper services in schools.Ê Special education is important for some; a multi‑faceted evaluation is important to determine qualification for special services.Ê There may be psychologists or other services within your medical center which can help with these issues.

 

Unproven/Disproven Treatments:

áÊÊÊÊÊ Dietary management for ADHD

áÊÊÊÊÊ Megavitamin/Orthomolecular Therapies

áÊÊÊÊÊ Sensory‑Integration therapy for ADHD

áÊÊÊÊÊ Chiropractic manipulation

áÊÊÊÊÊ Ocular motor exercises/optometrics

áÊÊÊÊÊ Traditional play therapy

áÊÊÊÊÊ Neuro-feedback (EEG biofeedback)

áÊÊÊÊÊ Self‑control training in clinics

áÊÊÊÊÊ Social skills training in clinics

 

There are no easy answers.Ê But if you can document the effect upon the childâs functioning, you can make substantial changes in the childâs overall behavioral functioning and learning.Ê These core symptoms do follow a good percentage of persons into adulthood.Ê However, adults seem to learn coping strategies and find jobs, careers, and educational interests where symptoms have a lesser effect on their daily functioning.Ê Some adults still benefit from treatment.

 

 

Statistics of the 1996 Symposium

 

Itâs been a few months since the Symposium and our life is getting ãback to normal.äÊ Thanks to all of you who wrote and shared your thoughts.Ê It was wonderful to see so many old friends and meet so many new families.Ê I wanted to share some statistics that I think you may find interesting.

 

1.      55 MSUD families from 4 different countries attended÷U.S., Canada, Chile, Australia
2.      24 states were represented.
3.      Pennsylvania had the largest number of families with 14.
4.      55 children and young adults with MSUD attended.
5.      The oldest MSUD female was Cindy Blau, age 37, from Columbus, Ohio.
6.      The oldest MSUD male was Darrell Deel, age 32, from Birchleaf, Virginia
7.      The youngest MSUD child was Gina Basile, age 20 months, from Olney, Maryland.
 8.      7 families had more than 1 MSUD child with them.
9.      33 siblings of various ages were present.

 

And finally, there were a number of professionals present from several different states.Ê I was really pleased with the great turn out.Ê Letâs make the 1998 Symposium in Pennsylvania even bigger and better.Ê See you there!

÷Sandy Bulcher

 

 

Appreciation For Symposium

 

Following are comments from letters received by Sandy Bulcher since the Symposium.

 

Young adult with MSUD (PA)ö I wish there would be an MSUD meeting every day.

 

MSUD Mom (PA)ö It gave us fresh courage to come home and keep trying to fulfill our duties in caring for our MSUD child and the rest of the family.

 

MSUD Mom (CO)ö It is great to be with people who walk the same path.Ê At least we know we are not alone.

 

MSUD Mom (Canada)ö The ambiance that was created by the presence of so many families (old and new) was impressive and most of all heartwarming.

 

MSUD Mom (Canada)ö The input at the parents meeting helped shape the program and made the atmosphere congenial and warm.Ê We loved it.

 

Rosemary from Australiaö Sam & myself have been on the local ABC radio here talking about MSUD and the Symposium in Ohio.Ê After traveling all the way to America and talking in front of the group, I must admit we sounded pretty professional, even if I say so myself!ä

 

A Great Time

 

Sandy was too modest to pass on all the comments of praise she and Dave received.Ê We have heard many.Ê Anyone involved in putting on a meeting like this knows the huge amount of time, effort, and the mental and emotional challenge involved.Ê Wayne and I extend our admiration and deepest thanks to Dave and Sandy for an excellent job and attitude.Ê Following are some of the comments we heard or received in letters.

 

Comments from Jeannie Gauvinö This is the first time my teenage sons, Allen and Jason, and my husband attended the Symposium with me.Ê We all agree it was the best vacation we ever had.Ê The boys say they had an awesome time, liked the food and pool, and made friends with many of the other kids and adults.Ê Allen loved helping sing with the group at the end, and Jason regrets not helping.Ê It was great sharing this time with my family and being part of the larger MSUD family.Ê There was a peculiar bond of understanding in the emotional highs and low