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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

Standard

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. / Steffens, Paula; Weiss, Deike; Perez, Anna; Appel, Manuel; Weber, Philipp; Weiss, Claudia; Stoltenburg, Corinna; Ehinger, Ute; von der Hagen, Maja; Schallner, Jens; Claussen, Birte; Lode, Ilka; Hahn, Andreas; Schuler, Rahel; Ruß, Lena; Ziegler, Andreas; Denecke, Jonas; Johannsen, Jessika.

in: EUR J PAEDIATR NEURO, Jahrgang 51, 07.2024, S. 17-23.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Steffens, P, Weiss, D, Perez, A, Appel, M, Weber, P, Weiss, C, Stoltenburg, C, Ehinger, U, von der Hagen, M, Schallner, J, Claussen, B, Lode, I, Hahn, A, Schuler, R, Ruß, L, Ziegler, A, Denecke, J & Johannsen, J 2024, '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', EUR J PAEDIATR NEURO, Jg. 51, S. 17-23. https://doi.org/10.1016/j.ejpn.2024.05.002

APA

Steffens, P., Weiss, D., Perez, A., Appel, M., Weber, P., Weiss, C., Stoltenburg, C., Ehinger, U., von der Hagen, M., Schallner, J., Claussen, B., Lode, I., Hahn, A., Schuler, R., Ruß, L., Ziegler, A., Denecke, J., & Johannsen, J. (2024). 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. EUR J PAEDIATR NEURO, 51, 17-23. https://doi.org/10.1016/j.ejpn.2024.05.002

Vancouver

Steffens P, Weiss D, Perez A, Appel M, Weber P, Weiss C et al. 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. EUR J PAEDIATR NEURO. 2024 Jul;51:17-23. https://doi.org/10.1016/j.ejpn.2024.05.002

Bibtex

@article{1b9fc62f71e44c6fa9b5f4e422f8af51,
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",
abstract = "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.",
author = "Paula Steffens and Deike Weiss and Anna Perez and Manuel Appel and Philipp Weber and Claudia Weiss and Corinna Stoltenburg and Ute Ehinger and {von der Hagen}, Maja and Jens Schallner and Birte Claussen and Ilka Lode and Andreas Hahn and Rahel Schuler and Lena Ru{\ss} and Andreas Ziegler and Jonas Denecke and Jessika Johannsen",
note = "{\textcopyright} 2024 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.",
year = "2024",
month = jul,
doi = "10.1016/j.ejpn.2024.05.002",
language = "English",
volume = "51",
pages = "17--23",
journal = "EUR J PAEDIATR NEURO",
issn = "1090-3798",
publisher = "W.B. Saunders Ltd",

}

RIS

TY - JOUR

T1 - 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

AU - Steffens, Paula

AU - Weiss, Deike

AU - Perez, Anna

AU - Appel, Manuel

AU - Weber, Philipp

AU - Weiss, Claudia

AU - Stoltenburg, Corinna

AU - Ehinger, Ute

AU - von der Hagen, Maja

AU - Schallner, Jens

AU - Claussen, Birte

AU - Lode, Ilka

AU - Hahn, Andreas

AU - Schuler, Rahel

AU - Ruß, Lena

AU - Ziegler, Andreas

AU - Denecke, Jonas

AU - Johannsen, Jessika

N1 - © 2024 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.

PY - 2024/7

Y1 - 2024/7

N2 - 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.

AB - 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.

U2 - 10.1016/j.ejpn.2024.05.002

DO - 10.1016/j.ejpn.2024.05.002

M3 - SCORING: Journal article

C2 - 38772209

VL - 51

SP - 17

EP - 23

JO - EUR J PAEDIATR NEURO

JF - EUR J PAEDIATR NEURO

SN - 1090-3798

ER -