Camiel A Wijngaarde1, Rob C Brink1, Floor A S de Kort1, Marloes Stam1, Louise A M Otto1, Fay-Lynn Asselman1, Bart Bartels1, Ruben P A van Eijk1, Joyce Sombroek1, Inge Cuppen1, Marjolein Verhoef1, Leonard H van den Berg1, Renske I Wadman1, René M Castelein1, W-Ludo van der Pol2. 1. From the Department of Neurology and Neurosurgery (C.A.W., F.A.S.d.K., M.S., L.A.M.O., F.-L.A., R.P.A.v.E., J.S., I.C., L.H.v.d.B., R.I.W., W-L.v.d.P), Department of Rehabilitation (M.V.), Department of Orthopedic Surgery (R.C.B., R.M.C.), Department of Pediatrics, Child Development and Exercise Centre (B.B), and Biostatistics & Research Support Julius Centre for Health Sciences and Primary Care (R.P.A.v.E.), University Medical Centre Utrecht, Utrecht University, the Netherlands. 2. From the Department of Neurology and Neurosurgery (C.A.W., F.A.S.d.K., M.S., L.A.M.O., F.-L.A., R.P.A.v.E., J.S., I.C., L.H.v.d.B., R.I.W., W-L.v.d.P), Department of Rehabilitation (M.V.), Department of Orthopedic Surgery (R.C.B., R.M.C.), Department of Pediatrics, Child Development and Exercise Centre (B.B), and Biostatistics & Research Support Julius Centre for Health Sciences and Primary Care (R.P.A.v.E.), University Medical Centre Utrecht, Utrecht University, the Netherlands. w.l.vanderpol@umcutrecht.nl.
Abstract
OBJECTIVE: To investigate the natural course of scoliosis and to estimate lifetime probability of scoliosis surgery in spinal muscular atrophy (SMA). METHODS: We analyzed cross-sectional data from 283 patients from our population-based cohort study. Additional longitudinal data on scoliosis progression and spinal surgery were collected from 36 consecutive patients who received scoliosis surgery at our center. RESULTS: The lifetime probability of receiving scoliosis surgery was ≈80% in SMA types 1c and 2. Patients with type 2 who only learned to sit (type 2a) were significantly younger at time of surgery than those who learned to sit and stand (type 2b). The lifetime risk of surgery was lower in type 3a (40%) and strongly associated with age at loss of ambulation: 71% in patients losing ambulation before 10 years of age vs 22% losing ambulation after the age of 10 years (p = 0.005). In type 3a, preserving the ability to walk 1 year longer corresponded to a 15% decrease in lifetime risk of scoliosis surgery (hazard ratio 0.852, p = 0.017). Scoliosis development was characterized by initial slow progression, followed by acceleration in the 1.5- to 2-year period before surgery. CONCLUSION: The lifetime probability of scoliosis surgery is high in SMA types 1c and 2 and depends on age at loss of ambulation in type 3. Motor milestones such as standing that are not part of the standard classification system are of additional predictive value. Our data may act as a reference to assess long-term effects of new SMA-specific therapies.
OBJECTIVE: To investigate the natural course of scoliosis and to estimate lifetime probability of scoliosis surgery in spinal muscular atrophy (SMA). METHODS: We analyzed cross-sectional data from 283 patients from our population-based cohort study. Additional longitudinal data on scoliosis progression and spinal surgery were collected from 36 consecutive patients who received scoliosis surgery at our center. RESULTS: The lifetime probability of receiving scoliosis surgery was ≈80% in SMA types 1c and 2. Patients with type 2 who only learned to sit (type 2a) were significantly younger at time of surgery than those who learned to sit and stand (type 2b). The lifetime risk of surgery was lower in type 3a (40%) and strongly associated with age at loss of ambulation: 71% in patients losing ambulation before 10 years of age vs 22% losing ambulation after the age of 10 years (p = 0.005). In type 3a, preserving the ability to walk 1 year longer corresponded to a 15% decrease in lifetime risk of scoliosis surgery (hazard ratio 0.852, p = 0.017). Scoliosis development was characterized by initial slow progression, followed by acceleration in the 1.5- to 2-year period before surgery. CONCLUSION: The lifetime probability of scoliosis surgery is high in SMA types 1c and 2 and depends on age at loss of ambulation in type 3. Motor milestones such as standing that are not part of the standard classification system are of additional predictive value. Our data may act as a reference to assess long-term effects of new SMA-specific therapies.
Authors: Camiel A Wijngaarde; Esther S Veldhoen; Ruben P A van Eijk; Marloes Stam; Louise A M Otto; Fay-Lynn Asselman; Roelie M Wösten-van Asperen; Erik H J Hulzebos; Laura P Verweij-van den Oudenrijn; Bart Bartels; Inge Cuppen; Renske I Wadman; Leonard H van den Berg; Cornelis K van der Ent; W Ludo van der Pol Journal: Orphanet J Rare Dis Date: 2020-04-10 Impact factor: 4.123
Authors: Federica Trucco; Deborah Ridout; Mariacristina Scoto; Giorgia Coratti; Marion L Main; Robert Muni Lofra; Anna G Mayhew; Jacqueline Montes; Marika Pane; Valeria Sansone; Emilio Albamonte; Adele D'Amico; Enrico Bertini; Sonia Messina; Claudio Bruno; Deepak Parasuraman; Anne-Marie Childs; Vasantha Gowda; Tracey Willis; Min Ong; Chiara Marini-Bettolo; Darryl C De Vivo; Basil T Darras; John Day; Elizabeth A Kichula; Oscar H Mayer; Aledie A Navas Nazario; Richard S Finkel; Eugenio Mercuri; Francesco Muntoni Journal: Neurology Date: 2020-10-16 Impact factor: 9.910
Authors: Sebastian Lippross; Paul Girmond; Katja A Lüders; Friederike Austein; Lena Braunschweig; Stefan Lüders; Konstantinos Tsaknakis; Heiko M Lorenz; Anna K Hell Journal: J Clin Med Date: 2021-05-14 Impact factor: 4.241