Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study
Background Prior to the introduction of disease-modifying treatments (DMTs), children with type 1 spinal muscular atrophy (SMA) typically did not survive beyond the age of 2 years; management was mainly palliative. Novel therapies have made this a treatable condition, resulting in increased life exp...
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BMJ Publishing Group
2025-01-01
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| Online Access: | https://bmjopen.bmj.com/content/15/1/e082240.full |
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| author | Francesco Muntoni Giovanni Baranello Pinki Munot Mariacristina Scoto Adnan Manzur Marion Main Evelin Milev Lianne Abbott Victoria Selby Amy Wolfe Annemarie Rohwer Catherine Rye Sarah Gregson Grainne NicFhirleinn Rosanna Raab Heather McMurchie Angela Topping Faye Mason Jennie Sheehan Felicity Vann Steph Wadsworth José Longatto Lindsey Pallant Nick Emery Jenny Moustoukas Sarah D’Urso Kay White Efthymia Panagiotopoulou |
| author_facet | Francesco Muntoni Giovanni Baranello Pinki Munot Mariacristina Scoto Adnan Manzur Marion Main Evelin Milev Lianne Abbott Victoria Selby Amy Wolfe Annemarie Rohwer Catherine Rye Sarah Gregson Grainne NicFhirleinn Rosanna Raab Heather McMurchie Angela Topping Faye Mason Jennie Sheehan Felicity Vann Steph Wadsworth José Longatto Lindsey Pallant Nick Emery Jenny Moustoukas Sarah D’Urso Kay White Efthymia Panagiotopoulou |
| collection | DOAJ |
| description | Background Prior to the introduction of disease-modifying treatments (DMTs), children with type 1 spinal muscular atrophy (SMA) typically did not survive beyond the age of 2 years; management was mainly palliative. Novel therapies have made this a treatable condition, resulting in increased life expectancy and more time spent upright. Survival and improved function mean spinal asymmetry is a new complication with limited data on its prevalence and severity and no current guidelines on management and treatment. This study aimed to evaluate the spinal presentation and management of type 1 SMA children on nusinersen across the SMA-REACH UK network.Methods Spinal presentation and management of 80 children (age range 4 months–14 years, median 4 years 2 months) with type 1 SMA on nusinersen across the SMA-REACH UK network were reviewed through retrospective data analysis.Results There were 60 type 1 children who developed a spinal asymmetry, of which 40 had kyphosis and 50 used a supportive thoraco-lumbar-sacral orthosis (TLSO). TLSOs were predominantly a one-piece jacket with abdominal hole, advised to be worn when upright during the day. Reduced neck range of movement was found in 33, 1 of these had plagiocephaly and 5 had torticollis. Of those with reduced neck range of movement, 26 (79%) had spinal asymmetry. Spinal surgery was performed in 7.Conclusions Our study confirms high prevalence of spinal asymmetry in this cohort, requiring long-term management planning. It provides information on presentation and treatment options, facilitating development of guidelines for these new complications observed in children surviving longer with DMTs. |
| format | Article |
| id | doaj-art-bd7225f9e27e40aba6757f1dd71b87ad |
| institution | Kabale University |
| issn | 2044-6055 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | BMJ Open |
| spelling | doaj-art-bd7225f9e27e40aba6757f1dd71b87ad2025-01-27T08:25:13ZengBMJ Publishing GroupBMJ Open2044-60552025-01-0115110.1136/bmjopen-2023-082240Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study 0Francesco Muntoni1Giovanni Baranello2Pinki Munot3Mariacristina Scoto4Adnan Manzur5Marion Main6Evelin MilevLianne Abbott7Victoria SelbyAmy Wolfe8Annemarie Rohwer9Catherine RyeSarah GregsonGrainne NicFhirleinnRosanna RaabHeather McMurchieAngela ToppingFaye MasonJennie SheehanFelicity VannSteph WadsworthJosé LongattoLindsey PallantNick EmeryJenny MoustoukasSarah D’UrsoKay WhiteEfthymia PanagiotopouloupharmacologistUCL GOS Institute of Child Health, London, UKUCL GOS Institute of Child Health, London, UKUCL GOS Institute of Child Health, London, UKUCL GOS Institute of Child Health, London, UKUCL GOS Institute of Child Health, London, UKUCL GOS Institute of Child Health, London, UKUCL GOS Institute of Child Health, London, UKUCL GOS Institute of Child Health, London, UKUCL GOS Institute of Child Health, London, UKBackground Prior to the introduction of disease-modifying treatments (DMTs), children with type 1 spinal muscular atrophy (SMA) typically did not survive beyond the age of 2 years; management was mainly palliative. Novel therapies have made this a treatable condition, resulting in increased life expectancy and more time spent upright. Survival and improved function mean spinal asymmetry is a new complication with limited data on its prevalence and severity and no current guidelines on management and treatment. This study aimed to evaluate the spinal presentation and management of type 1 SMA children on nusinersen across the SMA-REACH UK network.Methods Spinal presentation and management of 80 children (age range 4 months–14 years, median 4 years 2 months) with type 1 SMA on nusinersen across the SMA-REACH UK network were reviewed through retrospective data analysis.Results There were 60 type 1 children who developed a spinal asymmetry, of which 40 had kyphosis and 50 used a supportive thoraco-lumbar-sacral orthosis (TLSO). TLSOs were predominantly a one-piece jacket with abdominal hole, advised to be worn when upright during the day. Reduced neck range of movement was found in 33, 1 of these had plagiocephaly and 5 had torticollis. Of those with reduced neck range of movement, 26 (79%) had spinal asymmetry. Spinal surgery was performed in 7.Conclusions Our study confirms high prevalence of spinal asymmetry in this cohort, requiring long-term management planning. It provides information on presentation and treatment options, facilitating development of guidelines for these new complications observed in children surviving longer with DMTs.https://bmjopen.bmj.com/content/15/1/e082240.full |
| spellingShingle | Francesco Muntoni Giovanni Baranello Pinki Munot Mariacristina Scoto Adnan Manzur Marion Main Evelin Milev Lianne Abbott Victoria Selby Amy Wolfe Annemarie Rohwer Catherine Rye Sarah Gregson Grainne NicFhirleinn Rosanna Raab Heather McMurchie Angela Topping Faye Mason Jennie Sheehan Felicity Vann Steph Wadsworth José Longatto Lindsey Pallant Nick Emery Jenny Moustoukas Sarah D’Urso Kay White Efthymia Panagiotopoulou Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study BMJ Open |
| title | Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study |
| title_full | Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study |
| title_fullStr | Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study |
| title_full_unstemmed | Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study |
| title_short | Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study |
| title_sort | spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the sma reach uk network a retrospective national observational study |
| url | https://bmjopen.bmj.com/content/15/1/e082240.full |
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