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First-of-Its-Kind Study Suggests Importance of Routine Mental Health Screening in the Care of Patients Suffering From Genetic Disease PKU
Date:3/18/2011

ompared to those being treated with diet alone (n=53; 409+/-323μmol/L compared to 647+/-488 umol/L, P=.03).

The screening tools included standardized self- and parent-reported questionnaires and included both a Psychiatric Distress Assessment for patients ages 5 – 17 years of age (Pediatric Symptom Checklist) and adults (Brief Symptom Inventory) and a Cognitive Impairment Assessment (child or adult versions of the Behavioral Rating Inventory of Executive Function (BRIEF)). Patients with positive screening results were referred to a mental health care professional within the medical center.  BSI symptom dimensions most commonly flagged among adults were Interpersonal Sensitivity, Paranoid Ideation, and Psychoticism.  Thirty percent of the patients (n=22) scored  positive on at least one BRIEF executive function clinical scale and 68 percent of those patients also screened positive for psychiatric distress.

The company-sponsored study was conducted at the University of Chicago Children's Hospital in Chicago, Illinois; the University of Utah in Salt Lake City, Utah; and Johns Hopkins University School of Medicine in Baltimore, Maryland.  Results reported at ACMG include only data from the University of Chicago.  Overall data from ADAPT will be collected and analyzed over the next few months.  ADAPT was designed to support and improve the current standard of care for patients with PKU by fostering the development of practical treatment algorithms, referral patterns and communication among multidisciplinary healthcare providers including geneticists, psychiatrists, social workers, dieticians, nurses and genetic counselors.

About KUVANKUVAN® (sapropterin dihydrochloride) Tablets is the first and only FDA approved medication for PKU. This treatment reduces blood Phe levels in patients with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4-) responsive PKU.  The active ingredient in KUVAN,
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SOURCE BioMarin Pharmaceutical Inc.
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