M S U D Newsletter
Articles selected from Vol. 13, No.1 , Spring
1995
A
DEVELOPMENTAL APPROACH
This is a summary of a talk given
by Cristine M. Trahms, M.S., R.D. at the MSUD Symposium in June of Î94. Ê
Cristine is with the Department of Pediatrics, Division of Pediatric
Genetics, University of Washington, Seattle, Washington.Ê Several parents requested copies of the information
she presented, and she graciously submitted this article.Ê She informed me in February that a similar
summary would appear in the proceedings of the 8th Annual Meeting of the European
Society for PKU (ESPKU) under the title: Self-Management Skills: the Key to
Successful Treatment.
Parents whose children have MSUD have been presented a
challenge unique to parenting.Ê Their
tasks are to:1) provide metabolic balance for the normalization of growth and
development and 2) support appropriate developmental stages of eating and relationship
to food.Ê The second task is more
achievable if a framework for supporting developmental milestones is
constructed.
Compliance with dietary management guidelines is the
cornerstone of effective treatment for MSUD.Ê
The goals for successful self-management of MSUD, as we have defined
them in our clinic, are that the child: 1) understands the basics of the
disorder; 2) understands the food pattern and can identify acceptable and
unacceptable food choices; 3) develops skills for making appropriate food
choices; and 4) increases independence by learning how to prepare food, plan
menus, and keep food records.
Parents are the initial managers of treatment.Ê However, children with MSUD must themselves
learn to adequately follow the therapy to the best of their abilities.Ê To support children intellectually and
emotionally as they begin self-management requires a basic framework built upon
principles of learning.Ê The method that
has worked most effectively for our group is based on the principles of Piaget
which have been widely described and have been used in many educational
settings.Ê The learning theories of
Piaget described simply are: 1) that a child progresses through a series of
stages of mental development and maturation; 2) a framework of readiness for
intellectual development is necessary to promote learning; and 3) activity and
exploration on the part of the learner is essential.Ê We know that the progress of development proceeds in an organized
fashion; that the child has an inner drive to make progress, but at an
individual pace; and that our job as parents and professionals is to understand
these developmental stages and support the childâs readiness to move forward.
Piagetâs model describes the developmental learning
stages in a manner that outlines the capabilities of the learner:
1.
The Sensory-Motor
Stage÷infants to age 2, who manipulate objects, are action oriented, are
aware of present time, have representational thought and respond to their
environment based on their own experience.
2.
The Pre-operational
Stage also called the Intuitive Stage÷children ages 2ö6, who have
language and begin to respond to their environment based on semi-logical
thinking, who are perceptively impulsive and blend fantasy and reality.
3.
The Concrete-operational
Stage also called the Practical Stage÷children ages 7ö11, who are
eager to develop and use their skills at thinking, mathematics and reasoning.
4.
The Formal-operational
Stage also called the Reflective Stage÷ages 12ö15, which is adult
style thinking with the ability to deduce and reason and learn to make
decisions independently.
The practical application of Piagetâs
constructs is that:
5.
Learning is
based on cognitive readiness.
6.
Parents and
children must work together through the process one-step-at-a-time.
7.
Parents work
together to decide priorities for their child, that is, negotiable vs.
nonnegotiable behaviors and what level of compliance is expected.
8.
The more
integrated the childâs life pattern and the restricted food pattern become, the
more likely long-term compliance will be achieved, that is, the food pattern is
woven into family life rather than each food-related event individually
negotiated.
These stages of learning can be translated
into developmental self-management tasks for individuals with MSUD based on age
and competence.Ê The operational aspects
of learning become more sophisticated as the child becomes cognitively more
mature, but the goals themselves do not change.Ê To be effective in promoting learning, education must be directed
at the level of the learner.Ê Additional
information is added only when the learner is ready.
With the added stresses of management of a
metabolic disorder, we must still remember that the development of a healthy
relationship with food starts in early infancy with the response of the
caregiver to the infantâs cues of hunger and satisfaction. Some of these
guidelines are:
n The food patterns of young children are
shaped by many factors that parents can facilitate or ignore.
n Food acceptances of infants and young
children are shaped by an innate preference for sweet tastes.
n The attitudes and acceptance of foods by
adults and peers has a profound influence on food acceptance by the older
infant and young child.
n Young children respond by accepting or
rejecting foods based on the social context of their being offered÷that is, a
positive interaction from family or adults offering the foods enhances
acceptance and a negative or neutral interaction tends to decrease the probability
of acceptance of a food.Ê
n Acceptance of foods is also based onÊ learning÷that is, familiarity and
presentation of the food in a form that is easy for the child to manage.
n Children learn from family and other adults
how to regulate their own food intake÷that is, they learn cues of satiation
based on the social and cultural environment during meals.
These concepts can be translated into action
by: introducing new flavors and textures gradually; enlarging the childâs
experience with as many forms of individual ãyesä foods as possible; offering
individual foods rather than mixtures so that foods may be appreciated for
their flavors and textures; being patient with first efforts and allowing the
infant to learn to feed himself/herself.
Table I (below) indicates tasks for young
children.Ê Younger school-aged children
learn much from involvement in the process of food preparation. Cooking can be
used to: 1) enhance a sense of accomplishment for the child; 2) have fun while
increasing the childâs self-esteem and self confidence; 3) support cognitive
and social learning; 4) learn about the role of food as nourishment; 5) learn
proper use of kitchen tools/utensils; 6) learn to weigh and measure foods; 7)
learn to follow directions; 8) learn how to plan, organize and complete a
project; 9) learn to work with other children/adults.Ê These skills, when learned in early childhood, support effective
self-management throughout life.
The tasks of primary grade children are shown
in Table II (below). Children of these ages learn from problem-solving
discussions and role-playing to practice the decisions that they need to make
for themselves.
Adolescent children are responsible for the
development of: 1) judgment; 2) appropriate responses to social pressures; 3)
positive coping behaviors; 4) positive self-concept; and 5) assertiveness
skills.Ê The learning tasks of older
children are shown in Table III (below).
In summary, we can expect children with MSUD
to grow and develop at the maximum level allowed by their disorder by
maintaining their therapy and having access to a learning environment that
supports cognitive development and directs the development of appropriate
self-management skills.Ê A model for
supporting the development of self-management skills is presented here.
References:
1. Bybee, R.W. and Sund, R.B. Piaget
for Educators, 2nd edition. Charles Merrill Pub. Co. 1982.
2. Trahms, Cristine M.
Self-Management Skills: The Key to Successful PKU Treatment. Part I. First
steps: Teaching Your Young Child the Basics. National PKU News 3 (3), Winter,
1992.
3. Trahms, Cristine M.
Self-Management Skills: The Key to Successful PKU Treatment. Part II. Moving
Ahead and Walking Strong: Promoting Self-Management for the School-aged Child,
National PKU News 4(1), Spring/Summer, 1992.
Ê
4. Trahms, Cristine M.
Self-Management Skills: The Key to Successful PKU Treatment. Part III. Standing
on Your Own two Feet: The Adolescent years and Beyond, National PKU News 4 (2),
Fall, 1992.
Ê
5. Trahms, Cristine M. Long-term
nutrition intervention model: the treatment of phenylketonuria. Topics in
Clinical Nutrition 1(1): 62-72, 1986.
6. Rees, J. M. and Trahms, C.M. The
adolescent and phenylketonuria: promoting self-management. Topics in Clinical
Nutrition 2 (3) 35-39, 1987.
Table I
|
Self-management Tasks for Young Children |
||
|
|
||
|
Age (year) |
School level |
Learning tasks |
|
2ö3 |
Preschool |
Learns to distinguish yes/no foods |
|
3ö4 |
Preschool |
Learns to count foods: how many Learns concept of formula first |
|
4ö5 |
Preschool |
Begins use of scale for measuring: how much |
|
5ö6 |
Kindergarten |
Begins to prepare own formula with supervision Begins weighing foods regularly on a scale with
supervision |
|
6ö7 |
Grades 1ö2 |
Begins to list foods on food record |
Table II
|
Self-management Tasks for Children |
||
|
Age (year) |
School level |
Learning tasks |
|
7ö8 |
Grade 2ö3 |
Prepares formula with supervision |
|
|
|
Lists food on food record |
|
|
|
Understands portion sizes |
|
8ö9 |
Grade 3ö4 |
Prepares formula daily with little supervision |
|
|
|
Packs school lunch |
|
|
|
Chooses after school snack |
|
|
|
Prepares simple breakfasts |
|
|
|
Independently lists quantities of foods on food
record |
|
10ö11 |
Grade 5ö6 |
Prepares formula independently each day |
|
|
|
Prepares week-day breakfasts |
|
|
|
Prepares simple entrees independently |
|
|
|
Consumes full amount of formula independently each
day |
Table III
|
Management Tasks for Adolescents and Young Adults |
||
|
|
||
|
Age (year) |
School level |
Learning tasks |
|
12ö14 |
Grade 7ö9 |
Begins to independently manage total intake for the
day |
|
|
|
Responsible for menu planning |
|
|
|
Responsible for food records |
|
15ö17 |
High school |
Responsible for all aspects of self-management with
continued parent support |
|
18+ |
Post-high school |
Transitions to adult based clinic care and
independent living |
NOTE: An Interesting
Article by Dr. Morton
The Dec. â94, Vol. 94, No. 6 issue ofÊ Pediatrics printed a speech by Dr.
Holmes Morton as a Special Article.Ê In
a note prefacing the article, the editor praises Dr. Mortonâs talk.Ê He describes it as moving and
thought-provoking÷not your usual journal article.
Dr. Morton gave this speech at the 125th Year
Celebration of Childrenâs Hospital of Boston.Ê
It reveals the motivating force and factors behind the atypical doctor
who established the unique clinic at Strasburg, Pennsylvania.Ê It is a practical, earthy view of his work
among common people and his dedication to it.
The article is too lengthy to reprint in our
Newsletter.Ê Dr. Morton has kindly given
us permission to make copies which are available from our contact person, Dawn
Marie Hahn.Ê It is stimulating reading
for anyone interested in metabolic diseases and not too technical for
parents.Ê Donât miss it.
÷Joyce Brubacher
The editor of the National PKU
News, Virginia Schuett, asked the three companies marketing medical food in the
US to respond to questions PKU parents frequently ask about formulas.Ê She summarized the responses in an article
entitled ãAnswers to Your Questions about PKU Medical Foods (Formulas)ä printed
in the fall, 1994 issue.Ê Mead Johnson,
Ross Laboratories, and SHS North America provide formulas for MSUD and PKU so
most of the information in the article is relevant to both disorders.Ê I added MSUD references (italicized in
parenthesis) where applicable.
Why canât the formula be made to smell and taste
better, when it is the cornerstone of PKU (MSUD) treatment?
All of the companies acknowledge that the smell and
taste of the medical foods (formulas) are problems for some people.Ê All three have made major efforts in the
past several years to improve the taste and smell, but this is not an easy
task.Ê The problem lies in the basic raw
materials that need to be used.Ê
Formulas such as Lofenalac that are made to be low in phenylalanine
through a chemical hydrolyzing process have a very distinct odor and
flavor.Ê Phe‑free formulas (all of
the other formulas distributed in the U.S.) are made of individual amino
acids.Ê Some of the essential amino
acids contain sulfur and have a bad taste and smell.Ê Certain non-essential amino acids required for extra nitrogen
contribute to the undesirable properties.Ê
The vitamins and minerals that need to be included also add a strong
taste.ÊÊ Due to the nutritional
importance of most of the ãoffendingä substances, it is not feasible to simply
remove them.
Masking the flavor and smell is not easy either.Ê No completely adequate coating to
encapsulate the bad tasting amino acids has been found.Ê Some flavoring agents actually strengthen
the taste of the amino acids; some flavorings can trigger allergic reactions in
some people.Ê And of course not everyone
likes the same flavor.Ê Use of some
ingredients that could improve taste would triple or quadruple the cost and
they are not approved by the FDA.
One approach taken recently has been to decrease
amounts of certain of the nonessential ãbad‑tastingä amino acids.Ê The new formula distributed by SHS North
America, Periflex, uses this approach.Ê
Phenex, (Ketonex) by Ross Laboratories, also is an attempt to
improve the flavor and odor.Ê Phenex (Ketonex)
formula comes with an optional flavoring agent in two flavors.Ê SHS is working on some innovative new
presentations of the medical food that they hope will be available in the near
future.
Why canât the formula be put into a pill form?Ê Couldnât you just put in the necessary amino
acids and leave out all the fat, carbohydrate, vitamins, and minerals to be
obtained from another source?
This is a wonderful idea, but there are major
obstacles to a pill becoming a successful alternative to other forms of the
medical food.Ê Even if only the required
amount of amino acids were put into pill form, the pills either would need to
be large, or the quantities required to replace all formula would be more than
the average child or person could reasonably manage (40 to 60 or more pills per
day!)Ê Also, traditional pills require
the use of binders and other ingredients to hold the tablets together.Ê These ingredients cause tablets to be less
soluble in the gastrointestinal tract.Ê
This would decrease the amount of amino acids available.Ê Capsules could be used, but the shells
contain protein in the form of gelatin.
There are other potential problems:
n
If the medical food did
not contain minerals and vitamins, there would be the risk of the child or
young person forgetting to take the supplement and becoming severely deficient.
n
For infant products, the
Food and Drug Administration requires fat, carbohydrate, vitamins and minerals
unless the company provides a major medial justification for an exemption.
n
Unless a phe‑free (BCAA-free)
supplement of fat and carbohydrate is used to supply calories, persons on the
diet cannot eat enough regular table foods to meet energy needs without
exceeding their phe (leucine) tolerance.
Despite the problems, the Milupa Company of Germany
experimentally produced a pill many years ago that was tried mainly in
Europe.Ê The pills were not well
accepted in the quantities required and the idea was abandoned.Ê Recently, one young woman during her
pregnancy hand‑stuffed one of the formulas into empty capsules in order
to maintain the diet.Ê But she had to
consume 90 to 100 capsules per day and the capsules added 100 mg phe.
Still, the idea of a pill continues to have
appeal.Ê Despite the technical and other
difficulties mentioned above, SHS North America is exploring a pill form of the
medical food as one partial alternative.Ê
Clinical trials have taken place in Europe.Ê Results of their marketing research and the regulatory
environment here in the U.S. will determine suitability of this product for the
North American market.
Why are the formulas so expensive?
As you are aware, the PKU (MSUD) medical foods
are made of many compounds.Ê These are
obtained from raw material manufacturers located in various parts of the
world.Ê The basic nature of the formulas
is very complex.Ê The raw materials are
rare compounds isolated from batches of starter material.Ê They are extracted and purified to high food
or pharmacological grade compounds.Ê
Amino acids, and protein hydrolysates treated to remove most of the
phenylalanine (leucine), are simply much more expensive per gram of
protein than is whole protein in normal infant formulas
Strict quality controls and laboratory confirmation of
the manufacturing process also add to costs.Ê
Frequent analysis of the formulas is needed to insure that the
ingredients meet label specifications.
These and all other costs associated with production
are increased on a per unit basis due to the small production of the
formulas.Ê Regular infant formula is
made in huge batches (60,000 to 120,000 pounds or more); so the cost of analytical
tests required by the FDA for it prior to product release and during shelf life
is proportionately much smaller per unit.
Also, because of the number of people needing the
medical foods, batch sizes made at any one time must be small enough so that it
is not outdated by the time it reaches the consumer.Ê This increases costs per unit.Ê
In this regard, many state health agencies do not appropriately manage
their inventory and often return products after their maximum shelf‑life
has passed.Ê These products must be
destroyed.Ê At least two of the
companies have liberal refund policies for outdated products, adding to costs.
Finally, mark-up on the price of the products when
they are distributed through pharmacies can be very substantial and is not controlled
by the companies.
The suppliers claim there is so much expense involved
in producing the formulas for so few people that they donât make a profit on
them.Ê So why do we have so many
different companies coming up with new formulas?
In the U.S., only three companies provide medical
foods.Ê They are dedicated to providing
quality nutritional products for people with inborn errors of metabolism, not
to making big profits.Ê The companies
also help support many PKU‑related activities such as parent and
professional meetings.Ê Mead Johnson,
the first company to supply such products, has done so for over 35 years.Ê A reflection of their interest in families
is their program called ãHelping Hands for Special Kids,ä which makes sure that
children of financially needy families get the Mead Johnson formulas required
(interested families should contact their physicians).Ê Ross Laboratories entered the inborn errors
of metabolism market a few years ago.
Major formula companies want to provide a complete
line of products even if some products are made available at a loss to the
company, for humanitarian or public relations reasons.Ê This is also advantageous for selling
products to some hospitals, and state health agencies that will not contract
with a company for the regular baby formulas unless they have a complete line
of metabolic formulas.Ê SHS North
America, a company based in England, is the only one of the companies that does
not manufacture or market regular infant formulas.Ê Their sole function is to provide disease‑specific
nutritional products that will help patients with PKU and other metabolic
diseases.
ãThree companies are better than one,ä I say.Ê I think that we should all be glad to have
the three trying to better the lives of those who have inborn errors of
metabolism like PKU (MSUD).
Why couldnât there be a ready‑to‑use
formula?Ê It is very inconvenient to
have to mix it up every day, especially when traveling or away from home.
There are many reasons why medical foods have been produced
in powder form.Ê These reasons include
the following:
n
Powders have a longer
shelf‑life than liquids (about twice as long).Ê Because of shorter shelf‑life, a liquid form of the formula
would cost considerably more per gram of protein than powder (up to twice as
much or more).
n Ready‑to‑use medical foods are difficult to make.