Objective of the study:

The main objective is to define the neuropsychological profile of children and adolescents with a diagnosis of Phenylketonuria (PKU) and compare the profile of participants based on the follow-up of the dietary treatment.

Target population:

Individuals who participate in this study will meet the following criteria: (a) to have a diagnosis of Phenylketonuria (PKU) established by the specialist in metabolopathies; (b) to have age range from 6 to 18 years; (c) sign an informed consent form; (d) residents in Spain.

Data collection method:

Participants will be evaluated through a protocol of neuropsychological tests. The application will last approximately 90 minutes. Additional information will also be collected from the participants’ family members.

Period and place of assessment:

The sessions will be implemented in Madrid and Barcelona from October to December of 2018. The sessions will additionally be conducted in the Basque country during 2018-2019.

The results of the questionnaires will be confidential, but participants who request his own data can receive an individual report. In addition, the validity of the report will only be informative, and it will not be equivalent to a diagnostic or expert test.

If you wish to participate, please contact the researcher Esther Lázaro at the following address: estherlazaro@deusto.es

Associate network:

Spanish Federation of Hereditary Metabolic Diseases, Ramón Llull University, Aristos Campus Mundus, Orphan Europe, ONCE Foundation.