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

Molecular Genetics and Metabolism
S Waisbren, Desiree A White

Abstract

Cognitive deficits, learning difficulties, and emotional problems occur at significantly higher rates in individuals with phenylketonuria (PKU) than in the general population. The relationship between elevated blood phenylalanine (Phe) levels and the severity of these problems often remain unrecognized. Children and adults with PKU require ongoing screening so that referrals to psychologists or psychiatrists familiar with metabolic disorders can be made when necessary for in-depth evaluation and treatment. To identify screening instruments that can be used by non-psychologists as well as psychologists, a group of 10 psychologists and a psychiatrist in the United States with expertise in neuropsychological assessment and PKU proposed a Uniform Assessment Method for PKU. Questionnaires were selected that reliably detect problems in adaptive behavior, executive function, and emotional well-being, representing the most vulnerable areas for individuals with PKU. These questionnaires are appropriate for individuals from infancy through adulthood, may be administered in less than 1h, have computerized scoring accessibility, have no practice effects, and are available in Spanish and English. In addition to assessing function at a singl...Continue Reading

Associated Clinical Trials

Feb 9, 2016·Lori-Anne Schillaci

Citations

Jan 5, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jerry VockleySusan A Berry
Nov 12, 2013·Molecular Genetics and Metabolism·Stephan C J HuijbregtsJaume Campistol
Jun 26, 2013·Developmental Disabilities Research Reviews·Susan E WaisbrenJerry Vockley
Jun 21, 2015·Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research·Kathleen W WyrwichSuyash Prasad
Dec 30, 2014·Molecular Genetics and Metabolism·Geertje B LiemburgStephan C J Huijbregts
May 12, 2012·Molecular Genetics and Metabolism·Amy CunninghamStephen Cederbaum
Mar 29, 2014·Molecular Genetics and Metabolism·Kathryn M CampJustin M Young
Dec 7, 2014·European Journal of Pediatrics·Friedrich K TrefzChristoph Gasteyger

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