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Updated: Dec 8, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency:
Tracy B Lowe1, Jane DeLuca2, Georgianne Arnold3
1Healthcare Genetics, Clemson University, Clemson, South Carolina, USA.
Purpose:
The purpose of this article is to review literature for neurocognitive, neuropsychiatric, neurological complications associated with phenylalanine hydroxylase (PAH) deficiency. The goal is to familiarize nurse practitioners with treatment and monitoring guidelines for persons living with the disorder.
Conclusions:
Appropriate treatment can maximize neurocognitive and neuropsychiatric outcomes.
Practice Implications:
Nurse practitioners can help persons with PAH deficiency through education and providing appropriate referrals and by supporting disease-specific treatment.
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