Executive and social functioning in early- and continuously-treated patients with PKU: A follow-up study 10 years later

Executive and social functioning in early- and continuously-treated patients with PKU: A follow-up study 10 years later - Executive and social functioning in PKU patients

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON45119

Enrollment

240

Registered

2012-05-08

Start date

2012-05-23

Completion date

Unknown

Last updated

2024-05-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Metabolic disease PKU

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: - Patients meet NIH-diagnostic criteria for Hyperphenylalaninemia (HPA) or Phenylketonuria - PKU patients were treated early (within one month after birth) and continuously (at least until age 12) - Born after 1974 (start national screening PKU) and minimum age of 7 years at time of study - Dutch speaking - PKU patients who use or used Tetrahydrobiopterin (BH4) will not be excluded, but the use of this type of medication (which is being used to treat BH4-responsive HPA/PKU-patients) will be taken into account for statistical analyses (e.g. will be introduced as a covariate in between-group comparisons)

Exclusion criteria

Exclusion criteria: - Mental retardation that has been diagnosed by the clinical centre, or if the IQ is below 80 (after assessment) - Lack of fluency in Dutch - Use of medication other than Tetrahydrobiopterin that may affect cognitive functioning - Medical illnesses other than PKU with known effects on cognitive and social functioning

Design outcomes

Primary

Measure	Time frame
Neurocognitive tasks, measuring executive functions (inhibition, working memory, cognitive flexibility) and social cognition serve as study parameters. Questionnaires measuring executive and social functioning and behaviour in daily life are also used. Historical and concurrent phenylalanine and tyrosine concentrations, Phe:Tyr ratio, and Phe fluctuation are used as predictors. Significant differences are expected between PKU patients with high and low Phe concentrations, and between PKU patients and controls.	—

Measure

Time frame

Neurocognitive tasks, measuring executive functions (inhibition, working memory, cognitive flexibility) and social cognition serve as study parameters. Questionnaires measuring executive and social functioning and behaviour in daily life are also used. Historical and concurrent phenylalanine and tyrosine concentrations, Phe:Tyr ratio, and Phe fluctuation are used as predictors. Significant differences are expected between PKU patients with high and low Phe concentrations, and between PKU patients and controls.

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Secondary

Measure	Time frame
-	—

Countries

Netherlands

Outcome results