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Please diagnose
infantile spasm
— Paul G. Fisher, MD
— James F. Padbury, MD
and infant
— Julia Steinberger, MD, MS
November 2017
or decades, retrospective studies have intimated that delayed treatment of infantile spasms results in worse developmental outcomes, particularly among those
children whose spasms are cryptogenic, ie, without preceding developmental or neurological deficits.
To understand better the delay in diagnosis, and thus treatment, of these seizures,
Hussain et al at the University of California, Los Angeles conducted the ASSIST
(Assess Symptoms and Specialists in Infantile Spasms Treatment) survey study
among a cross-section of 100 parents whose children had spasms, in order to
quantify the diagnostic delay and search for any associated factors. Median time
from onset of symptoms to visit with a neurologist facile in the diagnosis and
provision of front-line treatment of spasms was 3.5 weeks. Only about a quarter were
evaluated within a week, a latency that many child neurologists would qualify as
optimal in the treatment of these seizures. Parents whose primary language preference was other than English experienced longer times to encountering an effective
Beyond these findings, the authors only begin to address what pediatricians and
neurologists should do to remedy this predicament. Greater recognition by primary
care providers is clearly needed and can be accomplished by continuing medical education. Among the community of child neurologists, whose clinical waiting times can
be months, other means to triage patients is helpful. The simple video capture of paroxysmal events, such as spasms, on the almost ubiquitous parent’s data phone and
prompt review can be achieved easily even in the instance of the busiest child neurologist. Finally, in-person and telephonic interpretation for parents whose first language is not English is desperately needed at intake and during visits. Ironically, while
the ASSIST study surveyed parents in either English or Spanish, such widespread access
is not omnipresent. We should all assist with efforts to diagnose earlier and then treat
infantile spasms.
Article page 215 ▶
n this volume of The Journal, McLaughlin et al describe studies designed to determine whether alterations in DNA methylation of opioid related genes (ABCB1,
CYP2D6, and OPRM1) provide insights into the mechanisms of Neonatal Abstinence
Syndrome (NAS). This is clearly an important clinical problem and better understanding
of the biology may lead to enhanced management and outcomes. The results show
greater DNA methylation in infants requiring treatment for NAS than a control
group exposed to smoking and other social challenges and a non-smoking, affluent
control group. The data add additional mechanistic insights into opioids’ effect on
the developing newborn. This is a contemporary area of investigation. These results
may help others identify an infant that is likely to develop NAS and opportunities to
optimize treatment. Such findings may also be of greatest importance as more children are followed for long-term neurodevelopmental outcomes where we clearly have
a gap in our knowledge.
Article page 180 ▶
lkaline phosphatase (AP) is an endogenous enzyme associated with inflammatory processes, and shown both in vitro and in vivo to be beneficial, as a therapy,
in inflammation and organ injury.
Cardio pulmonary bypass is widely used for repair of congenital heart defects in
children, however, it may result in global inflammation and organ injury/
dysfunction. Gaps of knowledge exist in the understanding of AP activity after
infant cardiothoracic surgery and its association with major cardiovascular events
and organ injury. In this volume of The Journal, Davidson et al describe AP
activity in infants who underwent cardiopulmonary bypass. The study showed that
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2017, jpeds, 033
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