Abstract
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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Brain Diseases, Metabolic / diagnosis
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Brain Diseases, Metabolic / genetics
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Brain Diseases, Metabolic / metabolism
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Child
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Child, Preschool
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Developmental Disabilities / diagnosis*
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Developmental Disabilities / genetics
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Developmental Disabilities / metabolism*
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Female
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Humans
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Infant
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics
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Intellectual Disability / metabolism
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Learning Disabilities / diagnosis
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Learning Disabilities / genetics
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Learning Disabilities / metabolism
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Male
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Mental Disorders / diagnosis
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Mental Disorders / genetics
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Mental Disorders / metabolism
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Metabolic Diseases / diagnosis*
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Metabolic Diseases / genetics
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Metabolic Diseases / metabolism*