In the context of new era in spinal muscular atrophy (SMA), early treatment and newborn screening (NBS) are vital for shaping the disease. This study aimed to analyze our center's data of early treated (received Nusinersen before 90 days) SMA patients.

This study examined demographic, electrophysiological, and motor data in NBS-diagnosed and outpatient SMA type 1 patients (before NBS program). Motor development was assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND); electrophysiological data included Compound Muscle Action Potential (CMAP) values of fourteen NBS patients at baseline and after four Nusinersen doses.

Nineteen NBS patients and fourteen outpatient SMA-1 patients included to study. In NBS group, diagnosis and treatment starting time means were 12.3 ± 9.9 and 27.9 ± 1.8 days old respectively. Outpatient patients’ mean treatment was at 80.2 ± 4 days. Motor scores were compared for twelve outpatient and nine NBS patients who received at least four doses. Both groups improved CHOP scores at baseline and day 180 (outpatient from 14 ± 14,3 to 27,8 ± 14,56 ; NBS from 19,3 ± 10,4 to 38,0 ± 9,6 points, no significant difference among groups. CMAP values significantly increased in seven NBS patients (from 1.0 ± 0.33 mV to 2.7 ± 2.0 mV) after four doses.

In conclusion, NBS provides earlier Nusinersen treatment and better outcomes. Although differences in motor scores were not statistically significant, they showed noticeable improvement. In addition to clinical findings, these data shows, the importance of early diagnosis and treatment of SMA.

İsmail Hakkı Akbeyaz
Marmara University Pendik Hospital
Turkey

Gülten Öztürk
Marmara University Medical Faculty Division of Child Neurology
Turkey

Elif Acar Arslan
Marmara University Pendik Hospital
Turkey

Burcu Karakayalı
Marmara University Medical Faculty Division of Child Neurology
Turkey

Sermin Özcan
Adıyaman Education and Research Hospital
Turkey

Zeynep Yılmaz
Marmara University Medical Faculty Division of Child Neurology
Turkey

Kıymet Binnetoğlu
Marmara University Medical Faculty Division of Child Neurology
Turkey

Almala Pınar Ergenekon
Marmara University Medical Faculty Division of Pediatric Pulmonology
Turkey

Ela Erdem Eralp
Marmara University Medical Faculty Division of Pediatric Pulmonology
Turkey

Yasemin Gökdemir
Marmara University Medical Faculty Division of Pediatric Pulmonology
Turkey

Bülent Karadağ
Marmara University Medical Faculty Division of Pediatric Pulmonology
Turkey

Naime Evrim Karadağ Saygı
Marmara University Medical Faculty Division of Physical Treatment and Rehabilitation
Turkey

Olcay Ünver
Marmara University Medical Faculty Division of Child Neurology
Turkey

Dilşad Türkdoğan
Marmara University Medical Faculty Division of Child Neurology
Turkey