Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: a start toward standardized outcome measurement across development.
The aim of this paper is to provide a concise summary of findings from outcome studies in early-treated phenylketonuria (PKU). The paper should not be considered as an extensive review of the many different outcome measures that have been used in PKU-research, but as an attempt to integrate such findings so that they will be of additional value for day to day monitoring of PKU-patients and may direct future research to fill the present gaps of knowledge. Neurological, neuropsychological, neurophysiological, neuroimaging, quality of life, and psychosocial findings will be discussed in the context of their potential contributions to lifelong follow-up and treatment of PKU-patients being summarized in statements.
Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center of Groningen, University of Groningen, Groningen, The Netherlands. f.j.van.spronsen@umcg.nl
F J
FJ
van Spronsen
S C J
SC
Huijbregts
A M
AM
Bosch
V
V
Leuzzi
D003071:Cognition / Q000502:physiology*; D048788:Growth and Development; D006801:Humans; D009424:Nervous System Physiological Phenomena; D017063:Outcome Assessment, Health Care / Q000592:standards*; D010661:Phenylketonurias / Q000503:physiopathology / Q000523:psychology* / Q000628:therapy*; D012015:Reference Standards; D016896:Treatment Outcome