Official neurologist guidelines ! Thanks! Here is the extra testing that is officially recommended: For every child where developmental delay is suspected: Hearing test - "a formal audiologic assessment should include behavioral audiometric measures, assessment of middle ear function, and electrophysiologic procedures using experienced pediatric audiologists with current audiologic testing methods and technologies." Lead test Further testing only if indicated: Genetic testing:  specifically "high resolution chromosome studies (karyotype) and DNA analysis for FraX, should be performed in the presence of mental retardation (or if mental retardation cannot be excluded), if there is a family history of FraX or undiagnosed mental retardation, or if dysmorphic features are present (Level A). However, there is little likelihood of positive karyotype or FraX testing in the presence of high-functioning autism." Selective metabolic testing (Level A) "should be initiated by the presence of suggestive clinical and physical findings such as the following: if lethargy, cyclic vomiting, or early seizures are evident; the presence of dysmorphic or coarse features; evidence of mental retardation or if mental retardation cannot be ruled out; or if occurrence or adequacy of newborn screening at birth is questionable." EEG - "Indications for an adequate sleep-deprived EEG with appropriate sampling of slow wave sleep include (Level B) clinical seizures or suspicion of subclinical seizures, and a history of regression (clinically significant loss of social and communicative function)" Other testing does not yet have enough evidence to prove its clinical utility at this time:  Recording of event-related potentials and magnetoencephalography Clinical neuroimaging (even in the presence of megalencephaly) Hair analysis, celiac antibodies, allergy testing (particularly food allergies for gluten, casein, candida, and other molds), immunologic or neurochemical abnormalities, micronutrients such as vitamin levels, intestinal permeability studies, stool analysis, urinary peptides, mitochondrial disorders (including lactate and pyruvate), thyroid function tests, or erythrocyte glutathione peroxidase studies. Source:  American Academy of Neurologist's "Guideline Summary for Clinicians:  Screening and Diagnosis of Autism." http://www.aan.com/globals/axon/assets/2605.pdf So, my ds should probably not have had the Fragile X testing - because he has no evidence of MR. Well, I guess I'm glad we did it anyway - we at least ruled it out. Although it did cost us $250!
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