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Yield of additional metabolic studies in neurodevelopmental disorders
Author(s) -
Engbers Hannelie M.,
Berger Ruud,
van Hasselt Peter,
de Koning Tom,
de Sainvan der Velden Monique G. M.,
Kroes Hester Y.,
Visser Gepke
Publication year - 2008
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.21435
Subject(s) - medicine , yield (engineering) , pediatrics , referral , metallurgy , family medicine , materials science
The timing and yield of metabolic studies for patients with neurodevelopmental disorders is a matter of continuing debate. We determined the yield of additional or repeated metabolic studies in patients with neurodevelopmental disorders. Patients referred to a tertiary diagnostic center for patients with unexplained neurodevelopmental disorders were included. Initial metabolic studies had been performed in most patients (87%) before referral. Additional/repeated metabolic studies were individually tailored. Twelve metabolic diseases of 433 patients studied (2.8%) were diagnosed, despite normal initial metabolic studies before referral. Specific metabolic investigations lead to a greater diagnostic yield in patients with neurodevelopmental disorders. Ann Neurol 2008