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Abstract Details

The Charcot-Marie-Tooth (CMT) Infant Scale: A Pilot Study Testing the Ability of the Scale To Monitor Disease Progression in Infant and Children Younger Than Three Years Old
Peripheral Nerve
S26 - (-)
006
Age of onset in patients with CMT varies from infancy to adulthood. Outcome instruments that measure impairment or progression exist only for children older than 4 years of age or adults. Most forms of CMT begin to cause disability in childhood which suggests that early treatment interventions may be necessary to effectively slow disease progression in CMT. However no outcome instruments are available for infants and toddlers. Variability of clinical presentation, age of onset and distal presentations are among challenges that need to be addressed in designing such an instrument.
An extensive review of the literature on functional measurements in pediatric neuromuscular disorders and outcome measurements of CMT in adults and children was performed. Choice of items was selected. The resultant multiple-item rating scale should reflect all aspects of disability in infants and toddlers with CMT aged less than 3 years. We focused on evaluating proximal and distal upper and lower limb activities as well as axial tone (trunk and head control). For gross and fine motor aspect, we assessed normal activities, which follow a specific sequence of development.
We have developed an infant scoring table by combining items from the Hammersmith functional motor scale for SMA, the brief assessment of motor function scale for early development and specific items that we deem important for measuring impairment such as measures of distal strength, contractures of joints and muscle tone(trunk and head control). The table of CMT infant scale and preliminary data from infants seen throughout our consortium will be presented.
The CMTInf scale will permit natural history and clinical trials to be performed and linked with our other outcome measures in children and adults with inherited neuropathies.
Authors/Disclosures
Oranee Sanmaneechai, MD
PRESENTER 		No disclosure on file
No disclosure on file
Jan A. Hillert, MD (Karolinska Institute, Neurology R54) Dr. Hillert has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Hillert has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Celgene. Dr. Hillert has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck. Dr. Hillert has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Hillert has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sandoz. Dr. Hillert has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi. The institution of Dr. Hillert has received research support from Biogen. The institution of Dr. Hillert has received research support from Celgene. The institution of Dr. Hillert has received research support from Merck. The institution of Dr. Hillert has received research support from Novartis. The institution of Dr. Hillert has received research support from Sanofi. The institution of Dr. Hillert has received research support from Roche.
Rosemary R. Shy, MD No disclosure on file
Richard S. Finkel, MD, FAAN (St. Jude Children's Research Hospital) Dr. Finkel has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AveXis. Dr. Finkel has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Catabasis. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Capricor. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for ReveraGen. Dr. Finkel has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Scholar Rock. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier. The institution of Dr. Finkel has received research support from AveXis. The institution of Dr. Finkel has received research support from Biogen. The institution of Dr. Finkel has received research support from Capricor. The institution of Dr. Finkel has received research support from Catabasis. The institution of Dr. Finkel has received research support from ReveraGen. The institution of Dr. Finkel has received research support from Roche. The institution of Dr. Finkel has received research support from Scholar Rock. Dr. Finkel has received intellectual property interests from a discovery or technology relating to health care. An immediate family member of Dr. Finkel has received intellectual property interests from a discovery or technology relating to health care. Dr. Finkel has received personal compensation in the range of $0-$499 for serving as a Speaker in workshop with National Academy of Sciences. Dr. Finkel has a non-compensated relationship as a advisor with n-Lorem Foundation that is relevant to AAN interests or activities. Dr. Finkel has a non-compensated relationship as a Board Member with EveryLife Foundation that is relevant to AAN interests or activities.
Joshua Burns, PhD (The University of Sydney) No disclosure on file
Francesco Muntoni, MD (UCL Institute of Child Health) Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Sarepta. Dr. Muntoni has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Biogen. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Roche. The institution of Dr. Muntoni has received research support from European Commission. The institution of Dr. Muntoni has received research support from Medical Research Council. The institution of Dr. Muntoni has received research support from Biogen. The institution of Dr. Muntoni has received research support from Muscular Dystrophy UK. The institution of Dr. Muntoni has received research support from MDA USA. The institution of Dr. Muntoni has received research support from Sarepta. The institution of Dr. Muntoni has received research support from Association Francoise Myopathies. Dr. Muntoni has received personal compensation in the range of $0-$499 for serving as a Clinical expert with UK NICE Committee.
Mary Reilly, MD, FRCP, FRCPI (National Hospital for Neurology and Neurosurgery) The institution of Mary Reilly, MD, FRCP, FRCPI has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alynlam. Mary Reilly, MD, FRCP, FRCPI has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AKCEA. Mary Reilly, MD, FRCP, FRCPI has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Inflectis. The institution of Mary Reilly, MD, FRCP, FRCPI has received research support from MRC. The institution of Mary Reilly, MD, FRCP, FRCPI has received research support from NIH. The institution of Mary Reilly, MD, FRCP, FRCPI has received research support from MDA.
No disclosure on file
Michael E. Shy, MD, FAAN (University of Iowa) Dr. Shy has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Applied Therapeutics. The institution of Dr. Shy has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for DTx Pharma. The institution of Dr. Shy has received research support from NIH. The institution of Dr. Shy has received research support from Muscular Dystrophy Association. The institution of Dr. Shy has received research support from Charcot Marie Tooth Association. The institution of Dr. Shy has received research support from Applied Therapeutics.