The history of diagnostics and therapy of phenylketonuria (PKU) in the Czech
Republic started in 1970 and screening became obligatory in 1975. The incidence
of PKU in the Czech Republic is 1: 9800.
The aim of this study was to monitor and survey the health of adults with PKU
who stopped receiving dietary treatment after receiving therapy for many years.
The patients included in the study did not have any additional health problems.
A structured questionnaire was used to survey the patients. The questionnaire
was sent to 20 adult patients, eight men and twelve women. All of the patients
attend the Children's and Adolescent´s Clinic at the 3rd Medical Faculty. The
patients in the study stopped receiving dietary treatment at least two years
prior to the survey. The period patients had been on a normal diet ranged from
2 to 24 years. The questionnaire was focused on the perception of their diet
in childhood, the reasons why the dietary treatment was stopped, the perception
of their current health, the impact of PKU on aspects connected with employment,
personal relationships / partnerships and questions about health care for the
adults with PKU.
1. Perception of dietary treatment in childhood: Thirty two percents of respondents
responded that the dietary treatment put strong limitations on their lives and
that it bothered them a lot, 26% considered that the limitations were mild and
that it bothered them from time to time, 37% of the respondents did not consider
the dietary treatment as a limitation, 5% did not remember the time of the dietary
treatment. The average length of time that the patients received dietary treatment
was 17.4 years, the shortest time was 10 years and the longest was 25 years.
For two thirds of patients the dietary treatment meant enhanced psychical stress.
The results confirm the well-known fact: the necessity of unremitting and repetitive
motivation and education of the patients with children who suffer from PKU.
Parents and specialists play a key role in this field. The predominant feeling
of most respondents after terminating the dietary treatment was relief. Eleven
percent of the respondents described strong relief, 63% described a feeling
of relief but at the same time they realised they should continue dietary treatment
and sometimes they choose to eat appropriate food.
2. The reason why they stopped dietary treatment: According to the information
from the questionnaire: Seventy five percent of the respondents stopped the
treatment after doctor's advice. In reality stopping the administration of aminoacid
mixture was indicated by a doctor when the phenylalanine level was above 22
mg/dl (1,33 mmol/l) for two or more years, when dietary records showed sufficient
intake of natural proteins and when patients had low or no motivation for dietary
restrictions. The results of the questionnaire point out the problems in patients'
perception of the dietary treatment. According to our experience most of the
patients only perceive the treatment of PKU as administration of the amino acid
mixture. This finding supports the necessity of repetitive education in childhood.
3. Answers to the questions about employment and interpersonal relations: Fifty three percents of the respondents responded that PKU influenced their choice of occupation. The rest of the respondents did not allow PKU to influence their choice of occupation. Achieved education was: 70% secondary education, 25% lower education, and 5% basic education. The survey did not support the notion that the patients have a higher tendency to change employment more frequently. The average income among the respondents was comparable to the average for the country as a whole. Thirty percent of the respondents informed their employer about their PKU illness, the rest of the respondents did not consider this notification necessary or were worried about the reaction they might receive. Seventy percent of the patients stated that they did not have problems developing relationships with other people. Most of the respondents like company.
4. Diffidence in partner relationship was noted by two thirds of the respondents. They characterise themselves as passive, shy and careful. Most of them informed their partner about their illness at the start of their relationships.
5. All the patients are satisfied with the health care they receive. However 10% of the respondents responded that they would prefer to have a doctor during adulthood.
Kateřina Ratajová
ratajova@email.cz