Need for tube feeding in SMA type I patients treated with disease modifying therapies: prognostic factors

Elenco Abstract

LAURA ANTONACI

Need for tube feeding in SMA type I patients treated with disease modifying therapies: prognostic factors

Autori

LAURA ANTONACI (FONADAZIONE POLICLINICO GEMELLI IRCSS – NEUROPSICHIATRIA INFANTILE)
MARIKA PANE (FONADAZIONE POLICLINICO GEMELLI IRCSS – NEUROPSICHIATRIA INFANTILE)
GIULIA STANCA (FONADAZIONE POLICLINICO GEMELLI IRCSS – TNPEE)
GIORGIA CORATTI (FONADAZIONE POLICLINICO GEMELLI IRCSS – TNPEE)
ADELE D’AMICO (OSPEDALE PEDIATRICO BAMBINO GESU IRCSS – NEUROLOGIA)
VALERIA SANSONE (CENTRO CLINICO NEMO – NEUROLOGIA)
BEATRICE BERTI (FONADAZIONE POLICLINICO GEMELLI IRCSS – NEUROPSICHIATRIA INFANTILE)
LAVINIA FANELLI (FONADAZIONE POLICLINICO GEMELLI IRCSS – TNPEE)
EMILIO ALBAMONTE (FONADAZIONE POLICLINICO GEMELLI IRCSS – NEUROPSICHIATRIA INFANTILE)
CAROLINA AUSILI (FONADAZIONE POLICLINICO GEMELLI IRCSS – LOGOPEDIA)
ANTONELLA CERCHIARI (OSPEDALE PEDIATRICO BAMBINO GESU IRCSS – LOGOPEDIA)
MICHELA CATTERUCCIA (OSPEDALE PEDIATRICO BAMBINO GESU IRCSS – NEUROLOGIA)
ROBERTO DE SANCTIS (FONADAZIONE POLICLINICO GEMELLI IRCSS – TNPEE)
DANIELA LEONE (FONADAZIONE POLICLINICO GEMELLI IRCSS – NEUROPSICHIATRIA INFANTILE)
CONCETTA PALERMO (FONADAZIONE POLICLINICO GEMELLI IRCSS – NEUROPSICHIATRIA INFANTILE)
BIANCA BUCHIGNANI (FONADAZIONE POLICLINICO GEMELLI IRCSS – NEUROPSICHIATRIA INFANTILE)
ROBERTA ONESIMO (FONADAZIONE POLICLINICO GEMELLI IRCSS – PEDIATRIA)
MICHELE TOSI (OSPEDALE PEDIATRICO BAMBINO GESU IRCSS – NEUROPSICHIATRIA INFANTILE)
MARIA CARMELA PERA (FONADAZIONE POLICLINICO GEMELLI IRCSS – NEUROPSICHIATRIA INFANTILE)
CHIARA BRAVETTI (FONADAZIONE POLICLINICO GEMELLI IRCSS – INFERMIERA )
ENRICO BERTINI (OSPEDALE PEDIATRICO BAMBINO GESU IRCSS – NEUROLOGIA)
EUGENIO MERCURI (FONADAZIONE POLICLINICO GEMELLI IRCSS – NEUROPSICHIATRIA INFANTILE)

Presentatore

LAURA ANTONACI (FONADAZIONE POLICLINICO GEMELLI IRCSS)

Modalità

Poster Session

Abstract

Spinal muscular atrophy is one of the most common pediatric neuromuscular disorders caused by mutations in the SMN1 gene, leading to loss of motoneurons in the anterior horns and subsequent muscle atrophy and weakness. Type 1 is the most severe form of SMA,with onset before the age of 6 months, characterized by inability to sit unsupported and by progressive weakness involving skeletal muscles, respiratory and swallowing muscles.Progressive bulbar involvement was an invariable finding in type 1,requiring feeding support in most cases, by 12 months of age. The advent of disease modifying therapies changed not only survival but also the possibility to develop severe clinical signs, including swallowing difficulties. In this study we aimed to follow the progression of bulbar function in a cohort of 75 type I SMA patients treated with the available therapies and to establish if factors such as SMN2 copy number, SMA subtype and age at treatment could predict bulbar outcome.At last follow up,36 patients had no need for tube feeding, 7 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. Twenty-nine infants with tube feeding at follow up, already had bulbar difficulties when treatment was started. The level of bulbar involvement measured by OrSAT scale, was significantly associated with bulbar outcome and the other analyzed factors were also related to an increased risk of tube feeding although the association was not significant