Yield of additional metabolic studies in neurodevelopmental disorders.
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.
Engbers
Hannelie M
HM
Department of Metabolic and Endocrine Diseases, Wilhelmina Children's Hospital Utrecht, University Medical Center Utrecht, Utrecht, The Netherlands. hengbers@umcutrecht.nl
Berger
Ruud
R
van Hasselt
Peter
P
de Koning
Tom
T
de Sain-van der Velden
Monique G M
MG
Kroes
Hester Y
HY
Visser
Gepke
G
D000293:Adolescent; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D007859:Learning Disabilities / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D008297:Male; D001523:Mental Disorders / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*