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excluded for the following reasons: du- TABLE 1 Clinical Features of Generalized and Ocular JMG
plicate reporting (4 cases), insufficient Characteristics Generalized JMG Ocular JMG
information to confirm a case diagnosis n = 34 (%) n = 18 (%)
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more common in female patients and likely reflect differences in the ethnic pediatric myasthenia is based on a
has a more severe disease course with backgrounds and associated genetic survey given to pediatricians and pe-
prominent bulbar and respiratory susceptibility between the populations. diatric subspecialists, including neu-
muscle involvement. MuSK-positive my- HLA antigen plays a key role in several rologists. Consequently, patients who
asthenia gravis is very rare in children.21 autoimmune diseases and has been are followed by family physicians or
All of the 12 children in this cohort associated with myasthenia gravis. For adult neurologists could be missed.
tested for MuSK antibodies were nega- example, HLA-DR3 and -B8 are associ- Additionally, despite the survey being
tive. Additional diagnostic testing, in- ated with 60% of white adult myasthenia nationally administered, responses
cluding Tensilon and electrodiagnostic gravis patients.19,28 Given the higher were received from only 5 of 10 prov-
testing, may be complicated in pediatric incidence of other autoimmune dis- inces and none of the 3 territories.
patients. This is partly due to patient eases in individuals with myasthenia However, the provinces that responded
tolerability and compliance with testing, gravis, especially those that are se- are among the most highly populated,
sometimes requiring sedation for elec- ropositive for AChR,29 it is prudent to representing 78% of the total Canadian
trodiagnostic testing. Also, it is limited perform basic screening especially population based on estimates of
by availability of specialists to perform for diabetes and thyroid disease; we population per year (2010 and 2011) per
the tests. For example, Tensilon testing reported 2 patients with a concurrent province as reported by CANSIM from
requires adjusted dosing, cardiorespi- diagnosis of Graves disease and 2 Statistics Canada.31 Though mecha-
ratory monitoring, and extra caution if patients with family history of thyroid nisms are in place to improve the level
there is any suspicion of CMS (eg, AChR disease. of reporting, such as reminders to
slow channel mutation or COLQ muta- physicians, it nonetheless requires
Prepubertal patients had distinctive
tion) as such patients may clinically physicians to voluntarily participate. In
clinical features compared with the
worsen with exposure to acetylcholin- addition, the reporting system relies
pubertal/postpubertal group, who share
esterase inhibitors.18 on the primary care physician to ac-
more features with adult-onset myas-
curately report all the pertinent data,
The clinical features of JMG in the cur- theniagravis.Asreportedintheliterature,
as it is not possible for the study group
rent study revealed a predominance of the prepubertal patients were more likely
to review each patient chart to confirm
generalized (65%) compared with ex- to present with isolated ocular symptoms
the data. It is clear, however, that the
clusively ocular (35%) JMG. Of those with compared with the overwhelming gen-
diagnosis in reported cases would be
generalized presentation, there was eralized presentation among pubertal/
accurate as part of the inclusion defi-
a subtle female predominance, olderage postpubertal patients.14,16,17 An em-
nition required positive supportive
of onset (median 10 years), and pre- erging female preponderance in the
testing. This included a convincing
dominantly white ethnicity (59%). The pubertal/postpubertal group (female-to-
positive therapeutic response to ace-
ocular patients had a more pronounced male ratio 2:1) compared with the
tylcholinesterase inhibitors, which
female predominance, younger age of prepubertal group (ratio 1.4:1) was
would capture a small but documented
onset (median 3½ years), and pre- noted. Among patients with generalized subset of children who have negative
dominantly Asian ethnicity (44%). The JMG tested for AChR antibodies, 92% supportive testing by antibodies and
female predominance and younger age of the pubertal/postpubertal patients electrodiagnostic studies but have an
of onset of ocular JMG are in keeping were positive compared with 52% of appropriate clinical history and
with the results reported by Sri- the prepubertal group, in keeping with respond to treatment with pyridostig-
udomkajorn et al in Thailand. Their reports of 50% to 71% seropositivity mine.19 Given the survey design, long-
patients presented mainly with ocular among prepubertal patients, 68% to term follow-up of treatment outcome
symptoms (84.3%) at a mean age of 4.1 92% seropositivity among pubertal and disease progression was not avail-
years.22 Compared with studies de- patients, and 80% to 90% seropositivity able and both warrant investigation in
scribing pediatric myasthenia from among postpubertal/adult patients.14,17,30 the future.
China, Korea, Jamaica, Europe, and In- As well, the prepubertal group showed
dia,23–27 whose populations are more a higher rate of short-term remission
ethically uniform, the current study is compared with the pubertal/postpubertal CONCLUSIONS
unique in that the Canadian population group, in keeping with reports by This study represents the largest
is ethnically diverse. Consequently, the Andrews et al14 and Evoli et al.30 exclusively pediatric descriptiveseriesin
differences in terms of gender, age of This study has a number of limitations. North America and the first population-
onset, and subtype of myasthenia gravis The estimated minimum incidence of based study to systematically evaluate
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Clinical Characteristics of Pediatric Myasthenia: A Surveillance Study
Juliana VanderPluym, Jiri Vajsar, Francois Dominique Jacob, Jean K. Mah, Danielle
Grenier and Hanna Kolski
Pediatrics 2013;132;e939
DOI: 10.1542/peds.2013-0814 originally published online September 9, 2013;
Updated Information & including high resolution figures, can be found at:
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Pediatrics is the official journal of the American Academy of Pediatrics. A monthly publication, it
has been published continuously since . Pediatrics is owned, published, and trademarked by the
American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk Grove Village, Illinois,
60007. Copyright © 2013 by the American Academy of Pediatrics. All rights reserved. Print
ISSN: .