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\begin{document}

\title{The Effects of Nusinersen Treatment on Respiratuar Status of Children
with Spinal Muscular Atrophy}



\author[1]{Evrim Hepkaya}%
\author[2]{Ayse Ayzit Kilinc}%
\author[1]{İpek Ülkersoy}%
\author[1]{Azer Kilic Baskan}%
\author[1]{Hüseyin Arslan}%
\author[1]{Özge Meral}%
\author[1]{Tugce Damla Dilek}%
\author[1]{Serhat Guler}%
\author[1]{Sema Saltık}%
\author[3]{Haluk Cokugras}%
\affil[1]{Istanbul University-Cerrahpasa Cerrahpasa Faculty of Medicine}%
\affil[2]{Istanbul University Cerrahpasa Faculty of Medicine}%
\affil[3]{Istanbul Universitesi-Cerrahpasa}%


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  \date{May 26, 2024}


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\begin{abstract}
Introduction : Pulmonary involvement is the main prognostic factor in
children with spinal muscular atrophy (SMA). Nusinersen, a new treatment
modality, is being evaluated in recent studies, although the respiratory
part has not yet been clarified. We aimed to reveal the effects of
nusinersen on the respiratory functions of patients with spinal muscular
atrophy (SMA). Methods : In this single-center randomised study,
conducted between June 2020/July 2021, patients with SMA were evaluated
before and during nusinersen therapy. Data were collected on respiratory
status, nutritional support, motor involvement, and other comorbidities
that may affect the disease prognosis. Results : Patients with the
number of 43 (18 type1, 12 type2, 13 type3) with a mean age of diagnosis
of 10 months (range 1.5-192) and 24 months (3-219) at the start of
nusinersen therapy were included. An improvement in respiratory status
was noted in six patients between the second and third assessment. SMN2
copy numbers were significantly associated with better prognosis. Early
initiation of nusinersen was significantly correlated with reduced
hospital admissions. Nutritional support and weight gain were remarkable
in the ventilatory supported group. A significant improvement was
observed in motor functions, and chop-intend scores were statistically
significantly higher in non-tracheostomized group (p\textless{}0.005).
Conclusion : We think that nusinersen's effect may be significant with
early initiation and continuation of treatment. Improvements in
respiratory functions noted in our study require to be supported with
future long-term studies considering the overall genetic and
environmental status, even the cost-effectiveness,to make a global
consensus on nusinersen therapy.%
\end{abstract}%



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