ORPHA:716 Phenylketonuria E70.0
Conditions
Interventions
Group 1: Patients with mHPA and PKU are tested once with the questionnaires and test batteries below.
Furthermore, metabolic parameters are examined retrospectively and the results of the annual blood
Sponsors
Universitätsklinik für Kinder und Jugendliche, Leipzig
Eligibility
Sex/Gender
All
Age
10 Years to No maximum
Inclusion criteria
Inclusion criteria: • Patients need to be clinically healthy at the time of the examination (With the exception of the qualifying illness) • Written declaration of consent from the participating person or their legal representative
Exclusion criteria
Exclusion criteria: • Patients with severe psychiatric illnesses • Atypical PKU • Blood loss of 500 ml in the past 3 months • Severe allergic diathesis • Severe organic disease • Acute illness at the time of the examination, especially acute infections • Dystrophy (weight <5th percentile) • Pregnancy, breast-feeding • Unable to understand and sign the informed consent
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| •Mean scores on assessments of emotional resources and psychological distress: •normative data of those questionnaires: o SCL-90®-S - Symptom-Checklist-90®-Standard (Aggression/hostility, anxiety, depression, paranoid thinking, phobic fear, psychoticism, somatization, insecurity in social contact, obsessive-compulsivity, basic psychological stress, intensity of the responses and the number of symptoms) o CBCL/6-18R or YSR/11-18- Child Behaviour Checklist and Youth Self Report (eight problem scales are formed (anxious/depressive, withdrawn/depressed, physical complaints, social problems, thinking, (sleep) and repetitive problems, attention problems, rule-breaking behaviour and aggressive behaviour) and three superordinate scales are calculated (overall abnormalities, internal problems, external problems) o EDI-2 Eating Disorder Inventory-2 (Slimming, bulimia, body dissatisfaction, ineffectiveness, perfectionism, distrust, interoceptive perception, fear of growing up, asceticism, impulse regulation and social insecurity) o FERUS questionnaire for resources and self-management skills (motivation to change, self-observation, active and passive coping, self-efficacy, self-verbalization, hope and social support) o FRKJ 8-16 questionnaire on resources in childhood and adolescence (six personal resources (empathy and perspective-taking, self-efficacy, self-esteem, sense of coherence, optimism and self-control) and four social resources (parental emotional and social support, authoritative parenting style, integration into the peer group and integration at school). | — |
Secondary
| Measure | Time frame |
|---|---|
| • Laboratory parameters: full blood count, electrolytes, amino acid profile in plasma, amino acid profile in dried blood, Fe, ferritin, folic acid, vitamin B12, vitamin EDKA, zinc, selenium, thyroid stimulating hormone (SH), thyroid hormones, fatty acid profile (median and quantiles) at the day of testing: frequency of values outside recommended ranges in the observed distribution and for all observed values. • Form of treatment (off-treatment vs. on treatment: low-protein diet, Kuvan®, Palynziq®) • Mean scores on performance in executive functions (convergent problem solving, working memory (n-back task), flexibility (set shifting), divided attention, Go/No Go and incompatibility (tendency to interference), using the Test Battery for Attentional Performance and the Tower of London Test. • Normative data of the Test Battery for Attentional Performance and the Tower of London Test. | — |
Countries
Germany
Contacts
Public ContactSkadi Beblo
Universitätsklinik für Kinder und Jugendliche, Leipzig
Outcome results
None listed