Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network

• Published in: Neuromuscular disorders : NMD 2013-07, Vol.23 (7), p.529-539
• Main Authors: Connolly, Anne M, Florence, Julaine M, Cradock, Mary M, Malkus, Elizabeth C, Schierbecker, Jeanine R, Siener, Catherine A, Wulf, Charlie O, Anand, Pallavi, Golumbek, Paul T, Zaidman, Craig M, Philip Miller, J, Lowes, Linda P, Alfano, Lindsay N, Viollet-Callendret, Laurence, Flanigan, Kevin M, Mendell, Jerry R, McDonald, Craig M, Goude, Erica, Johnson, Linda, Nicorici, Alina, Karachunski, Peter I, Day, John W, Dalton, Joline C, Farber, Janey M, Buser, Karen K, Darras, Basil T, Kang, Peter B, Riley, Susan O, Shriber, Elizabeth, Parad, Rebecca, Bushby, Kate, Eagle, Michelle
• Format: Article
• Language: English
• Subjects: Age; Age Factors; Bayley III Scales of Infant and Toddler Development; Child; Child Development - physiology; Child, Preschool; Clinical Trials as Topic; Cognition - physiology; Developmental Disabilities - complications; Developmental Disabilities - physiopathology; Developmental Disabilities - therapy; Duchenne Muscular Dystrophy; Hammersmith Functional Motor Scale Extended; Humans; Infant; Male; Motor Activity - physiology; Muscular Dystrophy, Duchenne - complications; Muscular Dystrophy, Duchenne - physiopathology; Muscular Dystrophy, Duchenne - therapy; Neurology; North Star Ambulatory Assessment; Outcome Assessment, Health Care - methods
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2013.04.005

Abstract Therapeutic trials in Duchenne Muscular Dystrophy (DMD) exclude young boys because traditional outcome measures rely on cooperation. The Bayley III Scales of Infant and Toddler Development (Bayley III) have been validated in developing children and those with developmental disorders but have not been studied in DMD. Expanded Hammersmith Functional Motor Scale (HFMSE) and North Star Ambulatory Assessment (NSAA) may also be useful in this young DMD population. Clinical evaluators from the MDA-DMD Clinical Research Network were trained in these assessment tools. Infants and boys with DMD ( n = 24; 1.9 ± 0.7 years) were assessed. The mean Bayley III motor composite score was low (82.8 ± 8; p ⩽ .0001) (normal = 100 ± 15). Mean gross motor and fine motor function scaled scores were low (both p ⩽ .0001). The mean cognitive comprehensive ( p = .0002), receptive language ( p ⩽ .0001), and expressive language ( p = .0001) were also low compared to normal children. Age was negatively associated with Bayley III gross motor ( r = −0.44; p = .02) but not with fine motor, cognitive, or language scores. HFMSE ( n = 23) showed a mean score of 31 ± 13. NSAA ( n = 18 boys; 2.2 ± 0.4 years) showed a mean score of 12 ± 5. Outcome assessments of young boys with DMD are feasible and in this multicenter study were best demonstrated using the Bayley III.