Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study.

Disease-modifying therapies Oro-bulbar Spinal muscular atrophy Swallowing

Journal

European journal of pediatrics
ISSN: 1432-1076
Titre abrégé: Eur J Pediatr
Pays: Germany
ID NLM: 7603873

Informations de publication

Date de publication:
29 Aug 2024
Historique:
received: 29 05 2024
accepted: 14 08 2024
revised: 09 08 2024
medline: 31 8 2024
pubmed: 31 8 2024
entrez: 29 8 2024
Statut: aheadofprint

Résumé

The aim of this study was to assess the need for tube feeding in a cohort of treated infants with type I SMA and to identify predictive factors. All patients were classified at baseline, when treatment started, and at follow-up according to their functional level and the need for tube feeding. Fisher's exact test was used to examine the associations between the outcome at the last follow-up and SMA type, SMN2 copy number, and baseline nutritional status. ANOVA was performed to compare CHOP INTEND scores and age at treatment initiation with outcomes. The cohort includes 75 type I SMA infants treated between 0.1 and 5 years of age. At the last follow-up, 34 had no need for tube feeding, 9 had tube feeding but were also able to be fed by mouth, and 32 had tube feeding and were unable to be fed by mouth. Thirty of the 41 infants with tube feeding at follow-up already had feeding difficulties when treatment was started. The need for tube feeding at follow-up was associated with the level of feeding involvement at baseline and with CHOP INTEND scores [p < 0.001] but not with SMN2 copy number, SMA type 1 subtypes or age at treatment. The results of this study suggest that the need for tube feeding is not frequent in treated infants with type I SMA and, when occurring, can be predicted by the level of feeding involvement and low CHOP INTEND scores at baseline. What is Known: • The advent of disease-modifying therapies is increasingly changing the approach to swallowing and nutritional management in type I SMA. • Clinical trials and real-world data using all three disease-modifying therapies report a rather wide variability of feeding outcome and need for tube feeding that is often related to different cohorts that makes comparison between studies very difficult. What is New: • The real-world findings of this study, including all the children treated since treatments became available, confirmed that the need for tube feeding is not an invariable finding. • The level of feeding involvement at baseline appears to be a reliable prognostic indicator of bulbar outcome. • The results highlight the need for interventional studies with structured Speech and Language Therapist protocols that will help to better understand the extent to which bulbar function can be maintained or regained even in children requiring tube feeding.

Identifiants

DOI: 10.1007/s00431-024-05735-9 PMID: 39210071
pubmed: 39210071
doi: 10.1007/s00431-024-05735-9
pii: 10.1007/s00431-024-05735-9
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Ministero della Salute
ID : GR-2021-12374579
Organisme : Ministero della Salute
ID : GR-2018-12365706
Organisme : Ministero della Salute
ID : RF-2019-12370334
Organisme : Next Generation EU
ID : PNRR-MR1-2022-12376937
Organisme : Next Generation EU
ID : PNRR-MR1-2022-12376937

Informations de copyright

© 2024. The Author(s).

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Auteurs

Marika Pane (M)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Giulia Stanca (G)

Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Giorgia Coratti (G)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Adele D' Amico (A)

Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Valeria Ada Sansone (VA)

The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.

Beatrice Berti (B)

Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Lavinia Fanelli (L)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Emilio Albamonte (E)

The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.

Carolina Ausili Cefaro (C)

Speech Language Pathology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Lazio, Italy.

Antonella Cerchiari (A)

Feeding and Swallowing Services Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

Michela Catteruccia (M)

Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Roberto De Sanctis (R)

Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Daniela Leone (D)

Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Concetta Palermo (C)

Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Bianca Buchignani (B)

Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.

Roberta Onesimo (R)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Eliza Maria Kuczynska (EM)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Michele Tosi (M)

Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Maria Carmela Pera (MC)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Chiara Bravetti (C)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Francesco Danilo Tiziano (FD)

Department of Life Sciences and Public Health, Section of Genomic Medicine, Università Cattolica del Sacro Cuore, Rome, Italy.

Enrico Bertini (E)

Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Eugenio Mercuri (E)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. eugeniomaria.mercuri@policlinicogemelli.it.
Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. eugeniomaria.mercuri@policlinicogemelli.it.

Classifications MeSH