Abstract Details

Title The Cognitive Profile of Congenital Myotonic Dystrophy and the Impact of Sleep Quality

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P13 - Poster Session 13 (8:00 AM-9:00 AM)

Poster/Presentation
Number 11-007

Background Congenital myotonic dystrophy (CDM) is a severe form of myotonic dystrophy, a multisystemic, dominantly inherited disorder caused by expansion of the (CTG)_n repeat in the DMPK gene, characterized by symptom presentation at birth, and later, cognitive impairment, autistic features, and disordered sleep.

Objective To describe the cognitive profile of congenital myotonic dystrophy, and evaluate its relation to age and sleep quality.

Design/Methods Cognitive function was assessed by a neuropsychological battery consisting of the Wechsler Preschool and Primary Scale of Intelligence (WPPSI), Weschler Intelligence Scale of Children (WISC), Behavior Rating Inventory of Executive Function (BRIEF), Vineland Adaptive Behavior Scale (VABS), and Autism Spectrum Screening Questionnaire (ASSQ). Sleep quality was evaluated with the Pediatric Sleep Questionnaire (PSQ) and the Pediatric Daytime Sleepiness Scale (PDSS).

Results 47 individuals with CDM between the ages of 0 and 13 were enrolled. Mean age and (CTG)_n repeats were 6.22 and 1245, respectively. Mean estimated “IQ” was 65.39 as measured by WPPSI/WISC. The mean BRIEF Global “Executive” Composite, VABS “Adaptive” Behavior Composite, and ASSQ score were 63.12, 69.82, and 16.11, respectively. The mean PSQ and PDSS scores were 24.84 and 11.44, respectively. Correlations (Spearman’s rho, p value) were notable for the following: the Adaptive composite (0.724, <0.001) was strongly positively correlated with IQ, whereas the Executive composite (0.33, 0.867) and ASSQ (–0.237, 0.415) were not. The Executive composite was weakly negatively correlated with PSQ (–0.414, 0.015) but not PDSS (0.282, 0.106). The Executive composite (0.429, 0.011) and PDSS (0.374, 0.016) were weakly positively correlated with age, whereas the IQ (–0.395, 0.028) and Adaptive composite (–0.333, 0.038) were weakly negatively correlated with (CTG)_n repeats.

Conclusions Estimated IQ and adaptive functioning are inversely related to (CTG)_n repeats, whereas executive functioning and daytime sleepiness are directly related to age.

Authors/Disclosures
Namita Patel, MD (University of Rochester Medical Center) PRESENTER	Ms. Patel has nothing to disclose.
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Craig G. Campbell, MD	Dr. Campbell has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Catabasis. Dr. Campbell has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Solid. The institution of Dr. Campbell has received research support from Biogen. The institution of Dr. Campbell has received research support from Genzyme. The institution of Dr. Campbell has received research support from Acceleron, AMO, Biogen, Sarepta, Wave, PTC, Pfizer, Roche.
Nicholas E. Johnson, MD, FAAN (Virginia Commonwealth University)	Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta Therapuetics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Dyne Therapeutics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Vertex Pharma. Dr. Johnson has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for ML BIo . Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity. Dr. Johnson has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Arthex. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Juvena. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Entrada. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Rgenta. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Angle Therapeutics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AskBio. Dr. Johnson 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. Johnson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Fulcrum. Dr. Johnson has stock in Angle Therapeutics. Dr. Johnson has stock in Juvena Therapeutics. The institution of Dr. Johnson has received research support from Novartis. The institution of Dr. Johnson has received research support from Takeda . The institution of Dr. Johnson has received research support from AMO Pharma. The institution of Dr. Johnson has received research support from Sarepta. The institution of Dr. Johnson has received research support from Dyne Therapeutics. The institution of Dr. Johnson has received research support from AskBio. The institution of Dr. Johnson has received research support from Pepgen. The institution of Dr. Johnson has received research support from ML Bio. The institution of Dr. Johnson has received research support from Vertex. The institution of Dr. Johnson has received research support from Arthex. Dr. Johnson has received intellectual property interests from a discovery or technology relating to health care.