Table 1:

Recommended clinical work-up for autism spectrum disorder at the centres represented by the authors*

SpecialtyIndication for testingTest
Genetics9, 12, 22AllGenome-wide microarray, fragile X syndrome (FMR1 gene)
Head circumference > +3 SDPTEN gene
Concerns about other conditionsTuberous sclerosis and others as indicated
Consider for females with intellectual disabilityMECP2 gene
Neuroimaging23,24Complex ASD (clinical focal findings, major dysmorphology, micro- or extreme (≥ 4 SD) macrocephaly, skin lesions, seizures, focal EEG abnormalities, motor regression)Brain magnetic resonance imaging and/or spectroscopy
Metabolic25If clinically indicated (e.g., severe intellectual disability and seizures, developmental regression)Levels of venous blood gas; serum ammonia; lactate, pyruvate and uric acid; plasma amino acid; total, free and acylcarnitine; urine organic acids, mucopolysaccharides
General medicalShould be considered, especially for developmental delayT4, TSH, complete blood count, ferritin level
If indicated (e.g., presence of lead in the area where the family lives, evidence of pica)Lead level
If neuroleptic therapy is consideredFasting lipid profile, glucose, HbA1c, electrocardiogram
Gastroenterology26Pain after meals, night awakening despite good sleep hygieneRule out gastroesophageal reflux disorder
High eosinophil countRule out eosinophilic esophagitis
Bloating (2 or 3 times per wk for more than 2 wk)Tissue transglutaminase levels (to rule out celiac disorder)
Failure to thrive, weight lossSerum albumin, total protein, calcium, vitamin D levels
Neurology27Suspected seizures, documented regressionEEG (ideally sleep record)
Psychology or psychiatryMental health concerns (e.g., anxiety, mood)Comorbidity assessment
PsychologyNeed to establish mental ageCognitive and adaptive behaviour assessment
Learning concernsCognitive, academic assessment (may include evaluation of memory and executive functioning)
Speech-language pathologySpeech or language concernsSpeech-language assessment
Occupational and/or physiotherapyMotor or sensory concernsMotor and/or sensory assessment
Behaviour therapyBehavioural concernsBehavioural assessment
  • Note: EEG = electroencephalogram, HbA1c = glycated hemoglobin, SD = standard deviation of the mean, T4 = tetraiodothyronine, TSH = thyroid stimulating hormone.

  • * This list does not imply uniform practice.

  • Consider adding magnetic resonance spectroscopy if there is regression or other clinical indicators of metabolic disease.

  • May not be needed at the time of diagnosis, but may be required later to ensure appropriate academic supports.