העמותה הישראלית להתפתחות הילד ושיקומו




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דף הבית >> ארכיון כנסים >> כנס העמותה להתפתחות הילד2012 >> תקצירים ומצגות מכנס העמותה 2012 >> מושב 8 תגליות וחידושים בהפרעות תנועה ובעולם הרפואי >> מיאסטניה והתפתחות הילד

מיאסטניה והתפתחות הילד

Myasthenia and child development
 
Muahnnad Daana , Benjamin Gargi, Talya Dor,  Simon Edvardson, Barie Kaye, Benjamin Glick,  Israel Matoth,  Michal Becker  Cohen, Stella Rosenbaum-Mitterani, Yehuda Shapira , Malcolm Rabie and Yoram Nevo. Hadassah Hebrew University Medical Center, Alyn Hospital  and Meuhedet HIC Jerusalem, Israel
 
 
Background : Myasthenia is a rare under-diagnosed disease in childhood. Congenital myasthenic syndromes (CMS) are a heterogeneous group of   disorders that may present initially with delay in developmental motor milestones.
 
Aim of the study: To evaluate the clinical characteristics and developmental aspects of children aged 3 months-18 years from different ethnic origins diagnosed with myasthenia by clinical and electrophysiological studies and to correlate clinical findings with genetic workup and developmental outcomes. 
 
Methods: Retrospective evaluation of 42 medical records of patients with Myasthenia. The patients were sub-divided into 18 children with Myasthenia Gravis (MG) and 24 children with Congenital Myasthenic Syndrome (CMS).
 
Results :  Most of the children with MG were of Jewish origin and their mean age of symptoms onset was 10 years. Most of Children categorized as CMS based on infantile age of onset, multiple affected siblings in the same family and seronegativity to acetyl choline receptors antibodies, were of Arab origin. Average age of onset was 11 months. In this group parental consanguinity was 29.2%and early death in the same family occurred in 33.3%.In five of the 24 patients categorized with CMS, genetic molecular diagnosis was established. The children of both groups suffered from develpmental delay and intellectual disabilities. 

Conclusion : 
In a population with high rate of consanguinity clinical categorization enables distinction between MG and CMS in the majority of children with myasthenia,and those children should be followed thoroughly for the risk of motor delay and intellectual retardation . 
 
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