Kellen H Quigg1, Kiera N Berggren1, Melissa McIntyre2, Kameron Bates1, Francesca Salmin3, Jacopo L Casiraghi3, Adele DʼAmico4, Guja Astrea5, Federica Ricci6, Marnee J McKay7, Jennifer N Baldwin8, Joshua Burns7, Craig Campbell9, Valeria A Sansone3, Nicholas E Johnson1. 1. Department of Neurology, Virginia Commonwealth University Health, Richmond, Virginia, USA. 2. Department of Pediatric Neurology, University of Utah, Salt Lake City, Utah, USA. 3. The NEuroMuscular Omnicentre (NEMO) Clinical Center, Milan, Italy. 4. Department of Neurosciences, Bambino Gesù Children's Hospital, Unit of Neuromuscular and Neurodegenerative Disorders, Rome, Italy. 5. Department of Developmental Neuroscience, Scientific Institute for Research Hospitalization and Health Care (IRCCS) Stella Maris, Pisa, Italy. 6. Department of Pediatrics, Section of Child and Adolescent Neuropsychiatry, Regina Margherita Children's Hospital, Turin, Italy. 7. Faculty of Medicine and Health, Sydney School of Health Sciences, The University of Sydney, Sydney, New South Wales, Australia. 8. Priority Research Centre for Physical Activity and Nutrition, The University of Newcastle, Callaghan, New South Wales, Australia. 9. Department of Pediatrics, London Children's Hospital, University of Western Ontario, London, Ontario, Canada.
Abstract
BACKGROUND: We aim to describe 12-mo functional and motor outcome performance in a cohort of participants with congenital myotonic dystrophy (CDM). METHODS: CDM participants performed the 6 Minute Walk Test (6MWT), 10 Meter Run, 4 Stair Climb, Grip Strength, and Lip Force at baseline and 12-mo visits. Parents completed the Vineland Adaptive Behavior Scale. RESULTS: Forty-seven participants, aged 0 to 13 y old, with CDM were enrolled. 6MWT, 10 Meter Run, and 4 Stair Climb were completed in >85% of eligible participants. The only significant difference between mean baseline and 12-mo performance was an improvement in 6MWT in children 3-6 y old (P = .008). This age group also had the largest mean % improvement in performance in all other timed functional testing. In children >7 y, the slope of change on timed functional tests decreased or plateaued, with further reductions in performance in children ≥10 y. Participants with CTG repeat lengths <500 did not perform differently than those with repeat lengths >1000. CONCLUSIONS: The 6MWT, 10 Meter Run, and 4 Stair Climb were the most feasible measures. Our findings are consistent with the clinical profile and prior cross-sectional data, helping to establish reasonable expectations of functional trajectories in this population as well as identifying points in which therapeutic interventions may be best studied. Further study of outcomes in children >10 y old and <3 y is warranted, but this new information will assist planning of clinical trials in the CDM population.
BACKGROUND: We aim to describe 12-mo functional and motor outcome performance in a cohort of participants with congenital myotonic dystrophy (CDM). METHODS:CDMparticipants performed the 6 Minute Walk Test (6MWT), 10 Meter Run, 4 Stair Climb, Grip Strength, and Lip Force at baseline and 12-mo visits. Parents completed the Vineland Adaptive Behavior Scale. RESULTS: Forty-seven participants, aged 0 to 13 y old, with CDM were enrolled. 6MWT, 10 Meter Run, and 4 Stair Climb were completed in >85% of eligible participants. The only significant difference between mean baseline and 12-mo performance was an improvement in 6MWT in children 3-6 y old (P = .008). This age group also had the largest mean % improvement in performance in all other timed functional testing. In children >7 y, the slope of change on timed functional tests decreased or plateaued, with further reductions in performance in children ≥10 y. Participants with CTG repeat lengths <500 did not perform differently than those with repeat lengths >1000. CONCLUSIONS: The 6MWT, 10 Meter Run, and 4 Stair Climb were the most feasible measures. Our findings are consistent with the clinical profile and prior cross-sectional data, helping to establish reasonable expectations of functional trajectories in this population as well as identifying points in which therapeutic interventions may be best studied. Further study of outcomes in children >10 y old and <3 y is warranted, but this new information will assist planning of clinical trials in the CDM population.
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Authors: Ching H Wang; Carsten G Bonnemann; Anne Rutkowski; Thomas Sejersen; Jonathan Bellini; Vanessa Battista; Julaine M Florence; Ulrike Schara; Pamela M Schuler; Karim Wahbi; Annie Aloysius; Robert O Bash; Christophe Béroud; Enrico Bertini; Kate Bushby; Ronald D Cohn; Anne M Connolly; Nicolas Deconinck; Isabelle Desguerre; Michelle Eagle; Brigitte Estournet-Mathiaud; Ana Ferreiro; Albert Fujak; Nathalie Goemans; Susan T Iannaccone; Patricia Jouinot; Marion Main; Paola Melacini; Wolfgang Mueller-Felber; Francesco Muntoni; Leslie L Nelson; Jes Rahbek; Susana Quijano-Roy; Caroline Sewry; Kari Storhaug; Anita Simonds; Brian Tseng; Jiri Vajsar; Andrea Vianello; Reinhard Zeller Journal: J Child Neurol Date: 2010-11-15 Impact factor: 1.987