Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life
Background - Spinal muscular atrophy (SMA) is a neuromuscular disease, causing progressive muscle weakness due to loss of lower motoneurons. Since 2017, three therapies, two modifying gene transcription and one adding the defective gene, have been approved with comparable efficacy on motor outcome....
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
July 2024
|
| In: |
European journal of paediatric neurology
Year: 2024, Jahrgang: 51, Pages: 17-23 |
| ISSN: | 1532-2130 |
| DOI: | 10.1016/j.ejpn.2024.05.002 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1016/j.ejpn.2024.05.002 Verlag, kostenfrei, Volltext: https://www.sciencedirect.com/science/article/pii/S1090379824000606 
|
| Verfasserangaben: | Paula Steffens, Deike Weiss, Anna Perez, Manuel Appel, Philipp Weber, Claudia Weiss, Corinna Stoltenburg, Ute Ehinger, Maja von der Hagen, Jens Schallner, Birte Claussen, Ilka Lode, Andreas Hahn, Rahel Schuler, Lena Ruß, Andreas Ziegler, Jonas Denecke, Jessika Johannsen |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1930687338 | ||
| 003 | DE-627 | ||
| 005 | 20250913141732.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 250716s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.ejpn.2024.05.002 |2 doi | |
| 035 | |a (DE-627)1930687338 | ||
| 035 | |a (DE-599)KXP1930687338 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Steffens, Paula |e VerfasserIn |0 (DE-588)1371641064 |0 (DE-627)1930687710 |4 aut | |
| 245 | 1 | 0 | |a Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life |c Paula Steffens, Deike Weiss, Anna Perez, Manuel Appel, Philipp Weber, Claudia Weiss, Corinna Stoltenburg, Ute Ehinger, Maja von der Hagen, Jens Schallner, Birte Claussen, Ilka Lode, Andreas Hahn, Rahel Schuler, Lena Ruß, Andreas Ziegler, Jonas Denecke, Jessika Johannsen |
| 246 | 3 | 0 | |a two three |
| 264 | 1 | |c July 2024 | |
| 300 | |b Illustrationen | ||
| 300 | |a 7 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Online verfügbar: 8. Mai 2024, Artikelversion: 20. Mai 2024 | ||
| 500 | |a Gesehen am 16.07.2025 | ||
| 520 | |a Background - Spinal muscular atrophy (SMA) is a neuromuscular disease, causing progressive muscle weakness due to loss of lower motoneurons. Since 2017, three therapies, two modifying gene transcription and one adding the defective gene, have been approved with comparable efficacy on motor outcome. Data on cognitive outcomes of treated SMA type 1 patients is limited. The aim of this study was to evaluate cognitive function in symptomatic and presymptomatic SMA type 1 patients with two or three SMN2 copies who received SMN-modifying or gene-addition therapy in the first year of life. - Methods - Cognitive testing was performed in 20 patients, including 19 symptomatic SMA type 1 patients with up to three SMN2 copies and 1 pre-symptomatically treated patient. Children were tested using Bayley Scales of Infant Development (BSID-III) at the age of 2 or 3 years or the Wechsler Preschool and Primary Scale of Intelligence (WPSII-IV) at the of age of 5 years. - Results - 11/20 patients showed subnormal cognitive development. Boys had significantly lower cognitive scores. Patients requiring assisted ventilation or feeding support were more likely to have cognitive deficits. Achieving more motor milestones was associated with a better cognitive outcome. - Conclusion - Treated patients with SMA type 1 have heterogeneous cognitive function with 55 % of patients showing deficits. Risk factors for cognitive impairment in our cohort were male gender and need for assisted ventilation or feeding support. Therefore, cognitive assessment should be included in the standard of care to allow early identification of deficits and potential therapeutic interventions. | ||
| 650 | 4 | |a BSID-III | |
| 650 | 4 | |a Cognitive deficits | |
| 650 | 4 | |a Nusinersen | |
| 650 | 4 | |a Onasemnogene abeparvovec | |
| 650 | 4 | |a Risdiplam | |
| 650 | 4 | |a Risk factors | |
| 650 | 4 | |a WPPSI-IV | |
| 700 | 1 | |a Weiss, Deike |e VerfasserIn |4 aut | |
| 700 | 1 | |a Perez, Anna |e VerfasserIn |4 aut | |
| 700 | 1 | |a Appel, Manuel |e VerfasserIn |4 aut | |
| 700 | 1 | |a Weber, Philipp |e VerfasserIn |4 aut | |
| 700 | 1 | |a Weiss, Claudia |e VerfasserIn |4 aut | |
| 700 | 1 | |a Stoltenburg, Corinna |e VerfasserIn |4 aut | |
| 700 | 1 | |a Ehinger, Ute |e VerfasserIn |4 aut | |
| 700 | 1 | |a von der Hagen, Maja |e VerfasserIn |4 aut | |
| 700 | 1 | |a Schallner, Jens |e VerfasserIn |4 aut | |
| 700 | 1 | |a Claussen, Birte |e VerfasserIn |4 aut | |
| 700 | 1 | |a Lode, Ilka |e VerfasserIn |4 aut | |
| 700 | 1 | |a Hahn, Andreas |e VerfasserIn |4 aut | |
| 700 | 1 | |a Schuler, Rahel |e VerfasserIn |4 aut | |
| 700 | 1 | |a Ruß, Lena |e VerfasserIn |4 aut | |
| 700 | 1 | |a Ziegler, Andreas |d 1979- |e VerfasserIn |0 (DE-588)134123530 |0 (DE-627)560894201 |0 (DE-576)278444253 |4 aut | |
| 700 | 1 | |a Denecke, Jonas |e VerfasserIn |4 aut | |
| 700 | 1 | |a Johannsen, Jessika |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t European journal of paediatric neurology |d [Oxford] : Elsevier, 1997 |g 51(2024) vom: Juli, Seite 17-23 |h Online-Ressource |w (DE-627)320475417 |w (DE-600)2009085-7 |w (DE-576)26776183X |x 1532-2130 |7 nnas |a Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life |
| 773 | 1 | 8 | |g volume:51 |g year:2024 |g month:07 |g pages:17-23 |g extent:7 |a Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.ejpn.2024.05.002 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://www.sciencedirect.com/science/article/pii/S1090379824000606 |x Verlag |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20250716 | ||
| 993 | |a Article | ||
| 994 | |a 2024 | ||
| 998 | |g 134123530 |a Ziegler, Andreas |m 134123530:Ziegler, Andreas |d 910000 |d 910500 |e 910000PZ134123530 |e 910500PZ134123530 |k 0/910000/ |k 1/910000/910500/ |p 16 | ||
| 999 | |a KXP-PPN1930687338 |e 4746819858 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"name":{"displayForm":["Paula Steffens, Deike Weiss, Anna Perez, Manuel Appel, Philipp Weber, Claudia Weiss, Corinna Stoltenburg, Ute Ehinger, Maja von der Hagen, Jens Schallner, Birte Claussen, Ilka Lode, Andreas Hahn, Rahel Schuler, Lena Ruß, Andreas Ziegler, Jonas Denecke, Jessika Johannsen"]},"id":{"eki":["1930687338"],"doi":["10.1016/j.ejpn.2024.05.002"]},"physDesc":[{"extent":"7 S.","noteIll":"Illustrationen"}],"recId":"1930687338","relHost":[{"origin":[{"publisher":"Elsevier ; Harcourt","dateIssuedKey":"2003","dateIssuedDisp":"2003-","publisherPlace":"[Oxford] ; Burlington, Mass."}],"type":{"bibl":"periodical","media":"Online-Ressource"},"language":["eng"],"note":["Gesehen am 05.02.20"],"title":[{"subtitle":"ejpn ; official journal of the European Paediatric Neurology Society","title":"European journal of paediatric neurology","title_sort":"European journal of paediatric neurology"}],"physDesc":[{"extent":"Online-Ressource"}],"recId":"320475417","disp":"Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of lifeEuropean journal of paediatric neurology","corporate":[{"role":"isb","display":"European Paediatric Neurology Society"}],"pubHistory":["1.1997 -"],"id":{"zdb":["2009085-7"],"issn":["1532-2130"],"eki":["320475417"]},"part":{"year":"2024","pages":"17-23","extent":"7","text":"51(2024) vom: Juli, Seite 17-23","volume":"51"}}],"person":[{"family":"Steffens","role":"aut","given":"Paula","display":"Steffens, Paula"},{"family":"Weiss","role":"aut","given":"Deike","display":"Weiss, Deike"},{"family":"Perez","given":"Anna","role":"aut","display":"Perez, Anna"},{"family":"Appel","given":"Manuel","role":"aut","display":"Appel, Manuel"},{"role":"aut","given":"Philipp","family":"Weber","display":"Weber, Philipp"},{"role":"aut","given":"Claudia","family":"Weiss","display":"Weiss, Claudia"},{"display":"Stoltenburg, Corinna","role":"aut","given":"Corinna","family":"Stoltenburg"},{"display":"Ehinger, Ute","family":"Ehinger","role":"aut","given":"Ute"},{"display":"von der Hagen, Maja","family":"von der Hagen","role":"aut","given":"Maja"},{"family":"Schallner","role":"aut","given":"Jens","display":"Schallner, Jens"},{"display":"Claussen, Birte","family":"Claussen","role":"aut","given":"Birte"},{"display":"Lode, Ilka","family":"Lode","role":"aut","given":"Ilka"},{"given":"Andreas","role":"aut","family":"Hahn","display":"Hahn, Andreas"},{"display":"Schuler, Rahel","family":"Schuler","given":"Rahel","role":"aut"},{"family":"Ruß","role":"aut","given":"Lena","display":"Ruß, Lena"},{"role":"aut","given":"Andreas","family":"Ziegler","display":"Ziegler, Andreas"},{"display":"Denecke, Jonas","family":"Denecke","given":"Jonas","role":"aut"},{"family":"Johannsen","role":"aut","given":"Jessika","display":"Johannsen, Jessika"}],"origin":[{"dateIssuedDisp":"July 2024","dateIssuedKey":"2024"}],"note":["Online verfügbar: 8. Mai 2024, Artikelversion: 20. Mai 2024","Gesehen am 16.07.2025"],"type":{"bibl":"article-journal","media":"Online-Ressource"},"language":["eng"],"title":[{"title":"Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life","title_sort":"Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life"}]} | ||
| SRT | |a STEFFENSPACOGNITIVEF2024 | ||