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NEUROLOGY 2009;73:887-897
© 2009 American Academy of Neurology
Special Article

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review)

Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

Stephen Ashwal, MD, David Michelson, MD, Lauren Plawner, MD and William B. Dobyns, MD

From the Division of Child Neurology (S.A., D.M.), Department of Pediatrics, Loma Linda University School of Medicine, CA; Division of Pediatric Neurology (L.P.), Children’s Hospital Regional Medical Center, Seattle, WA; and The University of Chicago (W.D.), Department of Human Genetics, IL.

Address correspondence and reprint requests to the American Academy of Neurology, 1080 Montreal Avenue, St. Paul, MN 55116 guidelines{at}aan.com

Objective: To make evidence-based recommendations concerning the evaluation of the child with microcephaly.

Methods: Relevant literature was reviewed, abstracted, and classified. Recommendations were based on a 4-tiered scheme of evidence classification.

Results: Microcephaly is an important neurologic sign but there is nonuniformity in its definition and evaluation. Microcephaly may result from any insult that disturbs early brain growth and can be seen in association with hundreds of genetic syndromes. Annually, approximately 25,000 infants in the United States will be diagnosed with microcephaly (head circumference <–2 SD). Few data are available to inform evidence-based recommendations regarding diagnostic testing. The yield of neuroimaging ranges from 43% to 80%. Genetic etiologies have been reported in 15.5% to 53.3%. The prevalence of metabolic disorders is unknown but is estimated to be 1%. Children with severe microcephaly (head circumference <–3 SD) are more likely (~80%) to have imaging abnormalities and more severe developmental impairments than those with milder microcephaly (–2 to –3 SD; ~40%). Coexistent conditions include epilepsy (~40%), cerebral palsy (~20%), mental retardation (~50%), and ophthalmologic disorders (~20% to ~50%).

Recommendations: Neuroimaging may be considered useful in identifying structural causes in the evaluation of the child with microcephaly (Level C). Targeted and specific genetic testing may be considered in the evaluation of the child with microcephaly who has clinical or imaging abnormalities that suggest a specific diagnosis or who shows no evidence of an acquired or environmental etiology (Level C). Screening for coexistent conditions such as cerebral palsy, epilepsy, and sensory deficits may also be considered (Level C). Further study is needed regarding the yield of diagnostic testing in children with microcephaly.

Abbreviations: CP = cerebral palsy; GDD = global developmental delay; HC = head circumference; MRE = medically refractory epilepsy; OMIM = Online Mendelian Inheritance in Man.

Supplemental data at www.neurology.org

Appendices e-1 through e-6 and references e1-e12 are available on the Neurology® Web site at www.neurology.org.

Approved by the Quality Standards Subcommittee on November 5, 2008; by the Child Neurology Society (CNS) Practice Committee on August 2, 2009; by the AAN Practice Committee on November 20, 2008; and by the AAN Board of Directors on July 7, 2009.

Disclosure: Author disclosures are provided at the end of the article.

Received December 18, 2008. Accepted in final form July 7, 2009.




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