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Screening for cognitive and social-emotional problems in individuals with PKU: tools for use in the metabolic clinic

S Waisbren1, D A White

  • 1Children's Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA. susan.waisbren@childrens.harvard.edu

Molecular Genetics and Metabolism
|February 4, 2010
PubMed

Insights

Individuals with phenylketonuria (PKU) experience higher rates of cognitive and emotional issues. A Uniform Assessment Method using specific questionnaires aids in early detection and ongoing monitoring for better PKU management.

Area of Science:

  • Neuroscience
  • Metabolic Disorders
  • Psychology

Background:

  • Phenylketonuria (PKU) is linked to higher incidences of cognitive deficits, learning difficulties, and emotional problems compared to the general population.
  • The correlation between elevated blood phenylalanine (Phe) levels and the severity of these neurological and emotional issues is often underestimated.
  • Consistent screening is crucial for individuals with PKU to facilitate timely referrals for specialized evaluation and treatment of metabolic disorder-related challenges.

Purpose of the Study:

  • To propose a Uniform Assessment Method for PKU, identifying reliable screening instruments for use by both psychologists and non-psychologists.
  • To select questionnaires that effectively assess adaptive behavior, executive function, and emotional well-being in individuals with PKU across all age groups.
  • To establish a standardized approach for monitoring PKU patient outcomes and facilitating multi-clinic research.

Main Methods:

  • A panel of 10 psychologists and 1 psychiatrist with PKU and neuropsychological assessment expertise proposed the Uniform Assessment Method.
  • Questionnaires were chosen based on their reliability in detecting deficits in adaptive behavior, executive function, and emotional well-being.
  • Selected instruments are suitable for ages 0 to adulthood, administrable within an hour, offer computerized scoring, have no practice effects, and are available in English and Spanish.

Main Results:

  • The Uniform Assessment Method for PKU includes the ABAS-II (0-2 years), BRIEF and BASC-II (2-17 years), and BRIEF, BAI, and BDI-II (adults).
  • These measures allow for single-point assessments and longitudinal monitoring of functional changes related to metabolic status and treatment adherence.
  • The standardized approach ensures consistency in data collection across different clinical settings.

Conclusions:

  • The Uniform Assessment Method provides a consistent, age-appropriate screening battery for individuals with PKU.
  • This method supports long-term outcome monitoring and enhances the ability to pool data for PKU research across multiple institutions.
  • Standardized assessment is vital for understanding and managing the complex neurodevelopmental and emotional aspects of PKU.

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