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Clinical characteristics of pediatric myasthenia: a surveillance study
Juliana VanderPluym1, Jiri Vajsar, Francois Dominique Jacob
1Department of Pediatric Neurology, University of Alberta, 3-574A ECHA 11405-87 Ave, Edmonton, AB T6G 1C9, Canada. juliana.vanderpluym@albertahealthservices.ca.
Insights
Pediatric myasthenia, including juvenile myasthenia gravis and congenital myasthenic syndrome, is a treatable condition in Canada. Early diagnosis and treatment with pyridostigmine lead to prompt improvement in affected children.
Area of Science:
- Neurology
- Pediatrics
- Epidemiology
Background:
- Pediatric myasthenia is a rare autoimmune disorder affecting neuromuscular junctions.
- Understanding its incidence and clinical spectrum in children is crucial for timely diagnosis and management.
Purpose of the Study:
- To determine the incidence, clinical features, diagnostic approaches, and treatment trends of pediatric myasthenia in Canada.
- To provide a comprehensive overview of juvenile myasthenia gravis and congenital myasthenic syndrome in pediatric populations.
Main Methods:
- Anonymous physician surveys using the Canadian Pediatric Surveillance Program methodology.
- Standardized clinical questionnaires collected deidentified data from children under 18 with suspected myasthenia.
- Inclusion criteria included fluctuating ptosis, extraocular weakness, skeletal muscle fatigue, and supportive diagnostic tests.
Main Results:
- 57 confirmed pediatric myasthenia cases reported over 2 years: 34 generalized juvenile myasthenia gravis, 18 ocular, and 5 congenital myasthenic syndrome.
- Age of onset varied, with generalized forms appearing from birth to 17 years and ocular forms from 18 months to 11 years.
- Acetylcholine receptor antibodies were present in 67% of generalized and 44% of ocular cases; pyridostigmine treatment showed significant improvement in 100% of generalized and 88% of ocular cases.
Conclusions:
- This study is the largest North American series on pediatric myasthenia, detailing its clinical characteristics.
- A high index of suspicion is vital for diagnosing this treatable pediatric neurological disorder.
- Children with myasthenia demonstrate prompt and positive responses to accessible therapeutic interventions.
Objective:
To evaluate the incidence, clinical features, diagnostic, and treatment trends of pediatric myasthenia in Canada.
Methods:
Through established Canadian Pediatric Surveillance Program methodology, physicians were anonymously surveyed for cases of pediatric myasthenia using a standardized clinical questionnaire containing deidentified data. Inclusion criteria were any child <18 years old with ≥1 of the following: (1) fluctuating ptosis or extraocular weakness, (2) skeletal muscle weakness or fatigue, and (3) any of the following supportive tests: clinical response to acetylcholinesterase inhibitor, positive antibodies, abnormal slow repetitive nerve stimulation, or single-fiber electromyography.
Results:
In 2 years of surveillance, 57 confirmed cases were reported. There were 34 generalized and 18 ocular reports of juvenile myasthenia gravis plus 5 congenital myasthenic syndrome cases. There were 14 incident cases in 2010 and 6 in 2011. Age of onset ranged from "birth" to 17 years for the generalized form compared with 18 months to 11 years for the ocular subtype. Positive acetylcholine receptor titers were found in 22 (67%) of 33 generalized cases and 8 (44%) of 18 ocular patients. Of patients started on pyridostigmine, improvement was noted in 33 (100%) of 33 generalized cases and 15 (88%) of 17 ocular cases.
Conclusions:
This study represents the largest descriptive series of pediatric myasthenia in North America and provides valuable information about clinical characteristics. A high index of suspicion is important for this treatable disease. Children generally respond promptly to readily available therapies.
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