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From the Departments of Neurology/Neurosurgery and Pediatrics (Dr. Shevell) and School of Physical & Occupational Therapy (Dr. Majnemer), McGill University; Division of Pediatric Neurology (Dr. Shevell), Montreal Children’s Hospital, Montreal, Canada; Department of Pediatrics (Dr. Ashwal), Loma Linda University, Loma Linda, CA; private practice (Dr. Donley), Traverse City, MI; Division of Psychiatry (Dr. Flint), Wellcome Trust Centre for Human Genetics, University of Oxford, UK; private practice (Dr. Gingold), Morgantown, WV; National Institute of Neurological Disorders and Stroke (Dr. Hirtz), National Institutes of Health, Bethesda, MD; Departments of Pediatrics & Neurology (Dr. Noetzel), Washington University School of Medicine, St. Louis, MO; and Departments of Pediatrics & Neurology (Dr. Sheth), University of Wisconsin at Madison.
Address correspondence and reprint requests to Dr. Stephen Ashwal, Department of Pediatrics, Loma Linda University School of Medicine, 11175 Coleman Pavilion, Loma Linda, CA 92350; e-mail: sashwal{at}ahs.llumc.edu; or Wendy Edlund, American Academy of Neurology, 1080 Montreal Avenue, St. Paul, MN 55116; e-mail: wedlund@aan.com
Objective: To make evidence-based recommendations concerning the evaluation of the child with a nonprogressive global developmental delay.
Methods: Relevant literature was reviewed, abstracted, and classified. Recommendations were based on a four-tiered scheme of evidence classification.
Results: Global developmental delay is common and affects 1% to 3% of children. Given yields of about 1%, routine metabolic screening is not indicated in the initial evaluation of a child with global developmental delay. Because of the higher yield (3.5% to 10%), even in the absence of dysmorphic features or features suggestive of a specific syndrome, routine cytogenetic studies and molecular testing for the fragile X mutation are recommended. The diagnosis of Rett syndrome should be considered in girls with unexplained moderate to severe developmental delay. Additional genetic studies (e.g., subtelomeric chromosomal rearrangements) may also be considered in selected children. Evaluation of serum lead levels should be restricted to those children with identifiable risk factors for excessive lead exposure. Thyroid studies need not be undertaken (unless clinically indicated) if the child underwent newborn screening. An EEG is not recommended as part of the initial evaluation unless there are historical features suggestive of epilepsy or a specific epileptic syndrome. Routine neuroimaging, with MRI preferred to CT, is recommended particularly if abnormalities are found on physical examination. Because of the increased incidence of visual and auditory impairments, children with global developmental delay may undergo appropriate visual and audiometric assessment at the time of diagnosis.
Conclusions: A specific etiology can be determined in the majority of children with global developmental delay. Certain routine screening tests are indicated and depending on history and examination findings, additional specific testing may be performed.
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