PARENTAL KNOWLEDGE OF PHENYLKETONURIA AND THE EFFECTS OF PHENYLALANINE LEVELS OF CHILDREN WITH PHENYLKETONURIA By Lauren Crawford Ingram A Thesis Submitted in Partial Fulfillment of Requirements for the Degree of Master of Science in Human Sciences. May 2013 Middle Tennessee State University Thesis Committee: Dr. Janet Colson, Chair Dr. Lisa Sheehan-Smith Dr. John Douglas Winborn
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PARENTAL KNOWLEDGE OF PHENYLKETONURIA AND
THE EFFECTS OF PHENYLALANINE LEVELS OF
CHILDREN WITH PHENYLKETONURIA
By
Lauren Crawford Ingram
A Thesis Submitted in Partial Fulfillment
of Requirements for the Degree of
Master of Science in Human Sciences.
May 2013
Middle Tennessee State University
Thesis Committee:
Dr. Janet Colson, Chair
Dr. Lisa Sheehan-Smith
Dr. John Douglas Winborn
i
ACKNOWLEDGEMENTS
Completing a Master’s degree has been one of the most challenging and rewarding
accomplishments in my life. Completing this thesis taught me that anything can be
achieved, as long as you set your goals high and surround yourself with encouraging
people. I would like to thank the following for allowing me the opportunity to complete
my education in nutrition:
My advisor, Dr. Janet Colson for never giving up on me. Without your encouragement
and support, I would surely have missed out on this opportunity.
The thesis committee, Dr. Janet Colson, Dr. Lisa Sheehan-Smith, and Dr. John Winborn,
for contributing your time and knowledge.
My mom and dad for always standing beside me.
My supervisor, Krystal Burns and coworkers, Diana Davenport Golden and Kerstyn
Motter for forever believing in me.
Most importantly, I dedicate this work and all it represents to my son, Clayton, by far the
greatest achievement of my life. You and Bella will forever be my inspiration.
ii
ABSTRACT
Parental knowledge of phenylketonuria (PKU) may influence metabolic control of
plasma phenylalanine (Phe) concentrations in children with PKU. Parents of children
with PKU aged birth to 18 years were recruited to participate in a research study after
attending the 2010 and 2012 annual Tennessee PKU Foundation meetings and via PKU
support groups found on Facebook. Parents completed an online questionnaire to assess
overall knowledge of PKU and their children’s Phe management.
Because of the small sample (n = 7), results are reported as case studies. In
general, knowledge scores were higher for parents of the teenagers than for the younger
children. Parents reported that children with lower serum Phe levels were on less
restrictive diets and received less frequent Phe monitoring. The only child with elevated
Phe levels was on the most restrictive diet and received more medicated foods and Phe-
reducing medication.
iii
TABLE OF CONTENTS
LIST OF TABLES .....................................................................................................................v
15. Tennessee PKU Foundation. (2007) Available at http://tennesseepku.org. Accessed on
April 1, 2013.
38
APPENDICES
39
APPENDIX A
40
Parental Knowledge of PKU
In this survey, we are interested in learning more about your knowledge of and experiences with PKU. When answering these questions, please consider your child or children who have the condition. If you have more than one child with PKU, please answer with reference to your oldest child. This survey is to help us understand parental knowledge of PKU. Your identity as well as the answers you provide will remain confidential. Also, we are not evaluating individual responses, so answer to the best of your ability.
1. What is your child's gender?
Female
Male
2. How old is your child?
How old is your child?
3. What is your relationship to your child?
Mother
Father
Step-mother
Step-father
Grandmother
Grandfather
Aunt
Uncle
Guardian
Other (please specify)
41
Regions of the United States
4. From what region of the United States do you and your child live?
West
Midwest
Northeast
South Other (please specify if you live outside the US)
5. From where do you receive the majority of your information regarding PKU?
My child's pediatrician or primary care physician (PCP)
A hospital or clinic where my child is followed by a specialist (RD, CNPA, MD, etc.)
Research that I have done on my own (articles, books, on-line resources, etc.)
PKU support groups
42
I have not received any information regarding my child's PKU.
Other (please specify)
6. Currently, does your child seek medical counseling/treatment from either a physician or registered dietician for their PKU?
Yes
No
7. Currently, is your child's blood Phe level monitored?
Yes
No
8. How often is your child's blood Phe level checked?
Never
Weekly
Biweekly
Once a month
Once every two months
Once every three months
Twice a year
Once a year
Other (please specify)
9. What is your child's MOST current Phe level?
< 2 mg/dL
2 - 6 mg/dL
7 - 11 mg/dL
11 - 15 mg/dL
15 - 20 mg/dL
> 20 mg/dL
43
10. Which of the following are restricted in your child's diet?
Meat Meat Yes Meat No
Dairy Dairy Yes Dairy No
Nut Nut Yes Nut No
Bean Bean Yes Bean No
Pasta Pasta Yes Pasta No
Other (please specify)
11. Which of the following supplements does your child consume?
Yes No
Infant/Toddler Formula
Infant/Toddler Formula Yes Infant/Toddler Formula No
Adult Formula Adult Formula Yes Adult Formula No
Medicated Food
Medicated Food Yes Medicated Food No
Tyrosine Supplement
Tyrosine Supplement Yes Tyrosine Supplement No
Kuvan Kuvan Yes Kuvan No
Other (please specify)
Parental Knowledge of PKU
12. What is the cause of phenylketonuria (PKU)?
44
PKU is inherited
PKU is caused by a disease
PKU is caused by eating too much sugar
PKU is contagious
Don't know
13. If a PKU child is not treated, what happens?
The child will be physically handicapped
The child will have muscle pain
The child will have a stomach ache
The child will be mentally handicapped
Don't Know
14. What is phenylalanine (Phe)?
A medicine
An amino acid
A carbohydrate
A fat
Don't know
15. What is missing in PKU?
Phenylalanine that is needed for proper brain development
Nothing is missing. Too much tyrosine is produced in PKU
A liver enzyme called phenylalanine hydroxylase
Don't know
16. What is the most important rule in the dietary treatment of PKU?
Limit intake of protein substitute and sugar
Increase intake of Phe and sugar
Increase intake of protein substitute and limit Phe
45
Consume large amounts of Phe
Don't know
17. When should dietary treatment in PKU begin?
Within the first couple weeks of the child's life
After the child's first birthday
Once the child turns 10 years old
Dietary treatment is never necessary
Don't know
18. What is considered an acceptable Phe level (mg/dL) in children with PKU?
Less than 0 mg/dL
Less than 1 mg/dL
Between 2 and 6 mg/dL
Between 6 and 10 mg/dL
Greater than 20 mg/dL
Don't know
19. If your child's blood Phe concentration gets too high, what happens?
The child's IQ score increases
The child's IQ score decreases
Nothing happens
Don't know
20. If your child does not eat for 2 days, what will happen to their blood Phe concentration?
Blood Phe level increases
Blood Phe level does not change
Blood Phe level decreases
Don't Know
46
21. Which food group should be completely avoided according to the PKU diet?
Vegetables
Fruits
Meats
Grains
Don't know
22. If Phe levels are too high, what should the child do?
Eat less Phe and more protein substitute
Eat more Phe and less protein substitute
Eat more Phe and more protein substitute
Don't Know
47
APPENDIX B
48
Hello, my name is Lauren Ingram. I am a graduate student finishing my last semester at Middle Tennessee State University in Murfreesboro. I am conducting research for my thesis and need your help. I would greatly appreciate your participation by completing a brief survey about parental knowledge of Phenylketonuria (PKU). I chose to write my thesis on PKU because my 2 year old son was diagnosed with PKU at birth. We may have met some of you at the December 2010 and 2012 TN PKU Foundation meeting in Nashville, TN. The survey takes less than 5 minutes to complete. There are no risks or costs associated with completing the survey. There will be no compensation for participation in this study. The information you provide will give insight into the relationship between parental knowledge of PKU and control of PKU in children. The survey is anonymous. No one will be able to identify you or your answers. Should the data be published, no individual information will be disclosed. If you have any questions or wish to learn more about the study, please contact me at (615) 653-7813 or at [email protected]. Middle Tennessee State University’s Institutional Review Board has reviewed my request to conduct this project. If you have any concerns about your rights in this study, please contact The Office of Compliance at MTSU IRB at (615) 494-8918 or email [email protected]. Thank you so much and I appreciate your help!
Lauren Ingram, BS Nutrition
49
APPENDIX C
50
51
APPENDIX D
52
January 18, 2013 College of Behavioral and Health Sciences, Dept. of Human Sciences Lauren P. Ingram [email protected]
Janet Colson
Protocol Title: Parental Knowledge of Phenylketonuria and the Effects of Phenylalanine Levels of Children with Phenylketonuria
Protocol Number: 13-174
Dear Investigator(s), The MTSU Institutional Review Board, or a representative of the IRB, has reviewed the research proposal identified above. The MTSU IRB or its representative has determined that the study poses minimal risk to participants and qualifies for an expedited review under 45 CFR 46.110 Category 7. Approval is granted for one (1) year from the date of this letter for 32 participants. According to MTSU Policy, a researcher is defined as anyone who works with data or has contact with participants. Anyone meeting this definition needs to be listed on the protocol and needs to provide a certificate of training to the Office of Compliance. If you add researchers to an approved project, please forward an updated list of researchers and their certificates of training to the Office of Compliance (c/o Andrew, Box 134) before they begin to work on the project. Any change to the protocol must be submitted to the IRB before implementing this change. Please note that any unanticipated harms to participants or adverse events must be reported to the Office of Compliance at (615) 494-8918. You will need to submit an end-of-project form to the Office of Compliance upon completion of your research located on the IRB website. Complete research means that you have finished collecting and analyzing data. Should you not finish your research within the one (1) year period, you must submit a Progress Report and request a continuation prior to the expiration date. Please allow time for review and requested revisions. Your study expires January 18, 2014. Also, all research materials must be retained by the PI or faculty advisor (if the PI is a student) for at least three (3) years after study completion. Should you have any questions or need additional information, please do not hesitate to contact me. Sincerely, Shelley C. Moore, PhD(c), MSN, RN IRB Committee Member
53
APPENDIX E
54
To Whom It May Concern:
We are writing a letter of medical necessity regarding the treatment of (patient first name & last
name). (patient name) has been under the consultative care of the (clinic name). He/She has an
inborn error of metabolism, a genetic disorder, known as phenylketonuria (PKU, ICD
9 270.1). We are writing to request that low protein modified food products be covered by
his/her current medical insurance.
PKU is a lifelong problem that requires a phenylalanine-restricted diet including low protein
modified food products and the prescription of medical foods/formulas by a licensed physi-
cian with the support of a registered dietitian in order to control the blood phenylalanine level.
Low protein modified food products are defined as manufactured products that will deliver no
more than one gram of protein per serving. Low protein modified food products supply needed
additional calories (to help prevent catabolism, which in itself can cause phenylalanine levels
to rise), without supplying additional phenylalanine containing pro- tein. Use of low protein
modified food products, especially when used consistently, greatly improves adherence to the
treatment program.
PKU results from a deficiency of the enzyme responsible for metabolizing the amino acid
phenylalanine. This results in the build-up of phenylalanine to toxic levels. An untreated
child with PKU will suffer irreversible brain damage as well as severe and progressive
neurological disorders. Normal growth and development are possible if an infant with PKU is
treated appropriately. In adolescents and adults, neurological deterioration, phobias, dif-
ficulty in concentration and impulse control, and loss of IQ points can occur if treatment is not
sustained.
Patients are treated with prescribed medical foods/formulas, as well as a phenylalanine-
restricted diet which includes low protein modified food products. This diet excludes all foods
high in protein (i.e. meat, poultry, fish, dairy, nuts and legumes) and markedly restricts all
grains, including rice, breads, and pastas. Medical foods/formulas provide the primary protein
constituent (80-85% of RDA protein) for the PKU dietary treatment regimen. Low protein
modified food products other nutrients which includes additional calories to prevent
catabolism which can cause a rise in phenylalanine levels. Use of these products is medi- cally
supervised by a physician and implemented by a registered dietitian specially trained
in the nutrition management of inborn errors of metabolism. Nutrition therapy must also
55
provide a sufficient and balanced intake of other nutrients to avoid nutritional deficiencies.
Nutrition therapy of PKU solely via protein restriction is not possible, because it will result in
protein malnutrition, calorie deprivation, vitamin and mineral deficiency, failure-to- thrive,
and potentially death.
The standard of care for PKU requires the use of the medical food/formulas and a phenylal-
anine-restricted diet which includes the use of low-protein modified food products, as well as
routine nutrition follow-up with a specially trained registered dietitian. The two primary goals
of treatment are:
1. To maintain the blood phenylalanine at a level that is not toxic, but still allows for normal
growth and development.
2. To ensure that the individual’s overall nutritional requirements are met, allowing for
normal growth and development, and the avoidance of nutritional deficiencies.
The recommended treatment range of blood phenylalanine levels for individuals with PKU is
between 2 and 6mg/dL (120 and 360µmol/L). There is good correlation of cognitive func- tion
and maintenance of blood phenylalanine levels in this treatment range. Elevated blood
phenylalanine in patients has been associated with behavior and learning problems which can
reverse when the blood levels return to the treatment range. Currently, indefinite con-
tinuation of dietary management is recommended to all patients with PKU. These recom-
mendations are based on a growing body of evidence indicating there is a decline in average IQ
and development of difficulties in school performance after diet discontinuation.
We appreciate your attention to this request for (patient’s name)’s low protein modified food
products to be covered by his/her current medical insurance. Please do not hesitate to con- tact
us if you have any questions at (clinic contact info).
Sincerely,
(dietitian name), RD, LDN (Physician name), M.D.
(physician credentials, clinic name)
cc: (parents name)
56
SAMPLE LETTER FOR INSURANCE COVERAGE OF MEDICAL FOODS
(Date)
RE: (patient name)
D.O.B: (patient date of birth) To Whom It May Concern:
We are writing a letter of medical necessity regarding the treatment of (patient first name & last
name). (patient name) has been under the consultative care of the (clinic name). He/ She has
an inborn error of metabolism, a genetic disorder, known as phenylketonuria (PKU, ICD 9
270.1). We are writing to request that medical food/formula be covered by his/her current
medical insurance.
PKU is a lifelong problem that requires a phenylalanine-restricted diet and the prescription of
special medical foods/formulas by a licensed physician with the support of a registered
dietitian in order to control the blood phenylalanine level. The term medical food/formula as
defined in section 5(b) of the Orphan Drug Act {21 U.S.C. 360ee (b) (3)} is a “food which is
formulated to be consumed or administered internally under the supervision of a physi- cian
and which is intended for the specific dietary management of a disease or condition
for which distinctive nutritional requirements, based on recognized scientific principles are
established by medical evaluation.”
PKU results from a deficiency of the enzyme responsible for metabolizing the amino acid
phenylalanine. This results in the build-up of phenylalanine to toxic levels. An untreated
child with PKU will suffer irreversible brain damage as well as severe and progressive
neurological disorders. Normal growth and development are possible if an infant with PKU is
treated appropriately. In adolescents and adults, neurological deterioration, phobias, dif-
ficulty in concentration and impulse control, and loss of IQ points can occur if treatment is not
sustained.
Patients are treated with prescribed medical foods/formulas (in a variety of forms powder,
capsule, liquid, bar etc.), special low-protein modified food products as well as a phenyl-
alanine-restricted diet. This diet excludes all foods high in protein (i.e. meat, poultry, fish, dairy,
nuts and legumes) and markedly restricts all grains, including rice, breads, and pastas.
Currently, (patient name) is prescribed (name of medical formula) which is a medical for- mula
used to manage PKU. Medical foods/formulas provide the primary protein constitu- ent (80-
85% of RDA protein) for the PKU dietary treatment regimen. Use of these products
is medically supervised by a physician and implemented by a registered dietitian specially
trained in the nutrition management of inborn errors of metabolism. Nutrition therapy must
also provide a sufficient and balanced intake of other nutrients to avoid nutritional deficien-
cies. Nutrition therapy of PKU solely via protein restriction is not possible, because it will result
in protein malnutrition, calorie deprivation, vitamin and mineral deficiency, failure-
to-thrive, and potentially death.
The standard of care for PKU requires the use of the medical food/formulas and a phenylala-
nine-restricted diet, as well as routine nutrition follow-up with a specially trained registered
dietitian. The two primary goals of treatment are:
57
1. To maintain the blood phenylalanine at a level that is not toxic, but still allows
for normal growth and development.
2. To ensure that the individual’s overall nutritional requirements are met, allowing
for normal growth and development, and the avoidance of nutritional deficiencies.
The recommended treatment range of blood phenylalanine levels for individuals with
PKU is between 2 and 6mg/dL (120 and 360µmol/L). There is good correlation of
cognitive func- tion and maintenance of blood phenylalanine levels in this treatment
range. Elevated blood phenylalanine in patients has been associated with behavior and
learning problems which can reverse when the blood levels return to the treatment range.
Currently, indefinite con- tinuation of dietary management is recommended to all patients
with PKU. These recom- mendations are based on a growing body of evidence indicating
there is a decline in average IQ and development of difficulties in school performance after
diet discontinuation.
We appreciate your attention to this request for (patient’s name)’s medical formula, (name
of medical formula) to be covered by his/her current medical insurance. Please do not
hesitate to contact us if you have any questions at (clinic contact info).