Laboratory Studies

The following laboratory studies should be ordered:

Complete blood count (CBC)
Thyroid function testing – Triiodothyronine (T₃), thyroxine (T₄), and thyroid stimulating hormone (TSH)
Glucose testing – Hemoglobin A1c (HbA1c), fasting glucose, and 2-hour postprandial glucose
Liver function tests – Gamma-glutamyltransferase (GGT), alanine aminotransferase (ALT), and aspartate aminotransferase (AST)
Kidney function tests – Blood urea nitrogen (BUN) and serum or 24-hour creatinine
Heavy metal screening – Mercury and arsenic
HIV test
Urine for aminoacidopathy screening

Chromosome analysis may be done to exclude coexisting genetic syndromes.

Psychological, Occupational, and Educational Tests

Psychological tests that may be performed include the following:

Children’s Autism Rating Scale (CARS) – This test yields information on the probability that the child’s behavior pattern resembles that of children of commensurate developmental age who are autisticlike
Kaufman Assessment Battery for Children (KABC) – This test yields information on mental processing, sequential processing, and an intelligence quotient (IQ) equivalent composite score
Vineland Adaptive Behavior Scale – This test yields information regarding the child’s level of adaptive functioning; it has limitations, including the variable reliability of the informants (eg, parents and caregivers)
PDD Behavior Inventory – This assessment is a rating scale for evaluating the response to intervention in children with pervasive development disorder (PDD)^[38]
Intelligence scales – These measures are not specifically helpful for diagnosing childhood disintegrative disorder but can be used to exclude other diagnoses

Occupational therapy evaluation may be helpful for determination of the presence of tactile sensitivity (eg, intolerance of hugs or discomfort with sensory input on skin) and for assessment of motor delays. A Grandin hug box is used by some occupational therapists.

Educational and achievement testing should be done to determine the patient’s academic level and appropriate educational setting. Such testing should include language testing and consideration of a nonverbal learning disability if the verbal intellectual capacity is much higher than shown by performance testing, especially in the setting of impaired gesture communication, decreased visual contact, abnormal facial expression, and prosody.^[35]

MRI, PET, and CT

Magnetic resonance imaging (MRI), positron emission tomography (PET), or computed tomography (CT) may be used to exclude brain tumors or obstructive abnormalities in the brain parenchyma. Researchers have found functional MRIs to be helpful in localizing the areas of the brain experiencing audiovisual asynchrony.^[12]

Avoid performing tests that may expose the developing brain to radiation or radioactive compounds if other tests (eg, neuropsychological tests) are available that can be diagnostically useful without imposing a risk of harm. The dye used for MRI and CT scanning also has the potential to impair kidney function.

Other Tests

Careful screening of the cranial nerves and a funduscopic examination are warranted.

Electroencephalography (EEG) may be performed as part of the neurologic workup to exclude seizure disorders such as Landau-Kleffner syndrome (LKS). Obtain both sleep (with nasopharyngeal leads) and awake EEGs. To exclude seizure disorder, a 24-hour EEG is the most sensitive test.

Treatment & Management

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