diagnosis

diagnosis

Due to the brief nature of spasms and the similarity to other infantile movements (benign sleep myoclonus, Moro reflex, etc.), diagnosis of IS can be delayed in some patients (1).

The infant is often brought to the clinician by the parents when the spasms become more obvious. Parental/caregiver videos of infant spasms may assist with the clinical diagnosis (1).

History and physical examination are the first and most important step in evaluating the patient.

• history - should focus on the following factors
• semiology of the events
• frequency
• clusters versus single spasms
• prenatal issues and prior development
• changes in development or delays prior to the onset of spasms
• thorough birth and pregnancy history
• family history of similar events in infants
• physical examination
• may reveal dysmorphic features, neurologic signs, or neurocutaneous stigmata
• e.g. - Wood's lamp evaluation to detect more subtle cases of tuberous sclerosis (1,2)

Investigations carried out in IS include:

• EEG - to confirm the presence of hypsarrhythmia
• neuroimaging  e.g. - MRI
• targeted genetic testing 
• basic metabolic screen - e.g. - electrolytes, glucose etc. (1,2)

Reference:

• (1) Nelson GR. Management of infantile spasms. Transl Pediatr. 2015;4(4):260-70.
• (2) Taghdiri MM, Nemati H. Infantile spasm: a review article. Iran J Child Neurol. 2014;8(3):1-5.