Introduction
Methods
Questionnaire development
Invited health care professionals
Data analysis
Results
Contributing centres and HCPs
Question and answers by category | Median (range) | ||||||
---|---|---|---|---|---|---|---|
How many PKU patients are currently followed at your clinic/centre? | 102 (3–2500) | ||||||
1–25 | 26–50 | 51–100 | 101–200 | 201–500 | ≥501 | ||
12.9 % | 9.7 % | 22.6 % | 16.1 % | 22.6 % | 12.9 % | ||
What is the number of new PKU patients followed over the course of a typical year at your clinic/centre? | 6 (1–50) | ||||||
0 | 1–5 | 6–10 | 11–20 | ≥21 | No answer | ||
0 % | 46.7 % | 20.0 % | 13.3 % | 13.3 % | 6.7 % | ||
What is the number of maternal PKU pregnancies followed over the course of a typical year at your clinic/centre? | 2 (0–17) | ||||||
0 | 1–5 | 6–10 | 11–20 | ≥21 | No answer | ||
19.4 % | 58.1 % | 6.5 % | 3.2 % | 0 % | 12.9 % | ||
Approximately what percentage of PKU patients currently followed at your centre were late diagnosed? | 10 (0–100) | ||||||
0 % | 1–5 % | 6–10 % | 11–20 % | ≥21 % | No answer | ||
6.5 % | 29.0 % | 19.4 % | 25.8 % | 12.9 % | 6.5 % | ||
The PKU team at your centre includes which of the following?a
| N/A | ||||||
Physicians (any type) | Clinical biochemists | Psychologists | Dieticians/nutritionists (any type) | Nurses specialising in PKU | Research scientists | Otherb
| |
100 % | 58.1 % | 54.8 % | 71.0 % | 25.8 % | 29.0 % | 9.7 % | |
Who cares for PKU patients from the age of 18 years?a
| N/A | ||||||
PKU paediatric clinic | PKU adult clinic | Otherc
| |||||
71.0 % | 16.1 % | 16.1 % |
Patients
Screening and confirmatory diagnosis procedures
Question and answers by category | Median (range) | ||||||
---|---|---|---|---|---|---|---|
At what age is the heel prick test performed at your centre? | 3 (2–7) | ||||||
0–1 days | 2 days | 3 days | 4 days | ≥5 days | No answer | ||
0 % | 19.4 % | 71.0 % | 3.2 % | 3.2 % | 3.2 % | ||
At what age are positively screened newborns seen in the medical service? | 10 (3–30) | ||||||
0–9 days | 10–15 days | 16–28 days | ≥29 days | No answer | |||
41.9 % | 35.5 % | 16.1 % | 3.2 % | 3.2 % | |||
What is the blood Phe level cut-off for a positive neonatal screening test in your country? | N/A | ||||||
120 μmol/L | 180 μmol/L | 240 μmol/L | 360 μmol/L | Othera
| No answer | ||
48.4 % | 25.8 % | 9.7 % | 3.2 % | 9.7 % | 3.2 % | ||
For which patient age groups does your centre perform the BH4 loading test?b
| N/A | ||||||
Newborns | Infants | Young children | Older children | Adolescents | Adults | No answer | |
38.7 % | 9.7 % | 25.8 % | 32.3 % | 22.6 % | 3.2 % | 35.5 % | |
What is the duration of the BH4 loading test? | N/A | ||||||
8 h | 24 h | 48 h | 72 h | 7 days | 30 days | No answer | |
0 % | 35.5 % | 9.7 % | 9.7 % | 0 % | 3.2 % | 41.9 % | |
What percentage of patients at your centre are BH4 responders? | 15 (0–31) | ||||||
0 % | 1–5 % | 6–10 % | 11–20 % | ≥21 % | No answer | ||
3.2 % | 9.7 % | 6.5 % | 9.7 % | 12.9 % | 58.1 % |
Treatment practices and reimbursement
What treatment options are available in your country? | |||||
Low-Phe diet | BH4 | Large neutral amino acids | Othera
| ||
100 % | 48.4 % | 32.3 % | 3.2 % | ||
At what age does your centre introduce low-Phe diet in newly diagnosed newborns? | |||||
0–9 days | 10–15 days | 16–28 days | ≥29 days | No answer | |
19.4 % | 51.6 % | 22.6 % | 3.2 % | 3.2 % | |
Who contributes to the costs of Phe-free protein substitutes?b
| |||||
Government | Private health insurance | Parents/patients | |||
96.8 % | 12.9 % | 22.6 % | |||
Who contributes to the cost of special low-protein foods (flour, pasta)?b
| |||||
Government | Private health insurance | Parents/patients | Otherc
| ||
59.4 % | 12.5 % | 75.0 % | 6.3 % | ||
What kind of social support is offered to PKU patients in your country?b
| |||||
Disability allowance | Disability certificate which helps with education, employment, travel expenses | Dietary allowance to go to summer camps | Reimbursement of travel expenses | Home support or compensation to parents for decreasing working hours | No support available |
80.6 % | 45.2 % | 32.3 % | 25.8 % | 12.9 % | 9.7 % |
Follow-up practices
Question and answers by category | Median (range) | |||||
---|---|---|---|---|---|---|
Does your centre follow a specific follow-up protocol for PKU patients? | N/A | |||||
Yes | No | No answer | ||||
77.4 % | 19.4 % | 3.2 % | ||||
Where does your centre collect samples for monitoring Phe levels in treated PKU patients?a
| N/A | |||||
Home | Outpatient clinic | Hospital | Family doctor clinic (general practitioner) | |||
74.2 % | 67.7 % | 35.5 % | 29.0 % | |||
What is the average return time of routine Phe control results to your patients, after blood sampling? | N/A | |||||
1–2 days | 3–4 days | 5–6 days | 7–8 days | No answer | ||
25.8 % | 35.5 % | 16.1 % | 19.4 % | 3.2 % | ||
What proportion of your patients is lost to follow-up (defined as patient was not seen for two years)? | 10 (0–21) | |||||
0 % | 1–5 % | 6–10 % | 11–20 % | ≥21 % | No answer | |
9.7 % | 22.6 % | 22.6 % | 25.8 % | 3.2 % | 16.1 % |