Gene-Targeted Therapies and Palliative Care in Children with Spinal Muscular Atrophy Type I: No Intrinsic Contradiction

2021 ◽  
Vol 24 (2) ◽  
pp. 162-163
Author(s):  
Maja von der Hagen ◽  
Silke Nolte-Buchholtz ◽  
Maria Janisch ◽  
Joachim Pietz ◽  
Markus Blankenburg ◽  
...  
Keyword(s):  
Palliative Care ◽  
Spinal Muscular Atrophy ◽  
Targeted Therapies ◽  
Muscular Atrophy ◽  
Type I ◽  
Spinal Muscular Atrophy Type ◽  
Intrinsic Contradiction

Palliative care in children with spinal muscular atrophy type I: What do they need?

2014 ◽  
Vol 13 (2) ◽  
pp. 313-317 ◽  
Author(s):  
Alberto García-Salido ◽  
María García de Paso-Mora ◽  
Manuel Monleón-Luque ◽  
Ricardo Martino-Alba
Keyword(s):  
Palliative Care ◽  
Respiratory Distress ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Retrospective Chart Review ◽  
Care Program ◽  
Respiratory Morbidity ◽  
Type I ◽  
Spinal Muscular Atrophy Type ◽  
The One

AbstractObjective:Our aim was to describe the clinical evolution and needs of children with spinal muscular atrophy type I treated in a domiciliary palliative care program.Method:We undertook a retrospective chart review of nine consecutive patients. Descriptions of the clinical and demographic profile of children with spinal muscular atrophy (SMA) type I were referred to a pediatric palliative care team (PPCT).Results:Six males and three females were admitted to the PPCT, all before six months of age, except for one afflicted with SMA type I with respiratory distress. The median time of attention was 57 days (range 1–150). The domiciliary attention mainly consisted of respiratory care. The patient with SMA type I with respiratory distress required domiciliary mechanical ventilation by tracheotomy. In all cases, a nasogastric tube (NT) was indicated. As end-of-life care, eight required morphine to manage the dyspnea, four received it only by enteral (oral or NT) administration, and four received it first by enteral administration with continuous subcutaneous infusion (CSI) later. Three of the four patients with CSI also received benzodiazepines. While they were attended by the PPCT, none required hospital admission. All the patients died at home except for the one attended to for just one day.Significance of Results:Domiciliary care for these patients is possible. The respiratory morbidity and its management are the main issues. Application of an NT is useful to maintain nutritional balance. Morphine administration is necessary to manage the dyspnea. Palliative sedation is not always necessary.

scholarly journals Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation

2021 ◽  
Vol 40 (4) ◽  
pp. 1578-1587
Author(s):  
Andrea Foppiani ◽  
Ramona De Amicis ◽  
Alessandro Leone ◽  
Simone Ravella ◽  
Giorgio Bedogni ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Fat Mass ◽  
Muscular Atrophy ◽  
Type I ◽  
Internal Validation ◽  
Spinal Muscular Atrophy Type ◽  
Children Development

scholarly journals Drug treatment for spinal muscular atrophy type I

2019 ◽  
Author(s):  
Renske I Wadman ◽  
W Ludo van der Pol ◽  
Wendy MJ Bosboom ◽  
Fay-Lynn Asselman ◽  
Leonard H van den Berg ◽  
...  
Keyword(s):  
Drug Treatment ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Type I ◽  
Spinal Muscular Atrophy Type

Clinical factors as predictors of survival in spinal muscular atrophy type I

2008 ◽  
Vol 18 ◽  
pp. S43-S47 ◽  
Author(s):  
Adele D'Amico ◽  
Marina Cuttini ◽  
Lucilla Ravà ◽  
Eugenio Mercuri ◽  
Sonia Messina ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Type I ◽  
Clinical Factors ◽  
Spinal Muscular Atrophy Type

Werdnig Hoffman'S Disease (Spinal Muscular Atrophy Type I): A Clinical Study of 25 Saudi Nationals in Al-Khobar

1992 ◽  
Vol 12 (1) ◽  
pp. 67-71 ◽  
Author(s):  
Saad Al-Rajeh ◽  
Olajide Bademosi ◽  
Generoso G. Gascon ◽  
David Stumpf
Keyword(s):  
Clinical Study ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Type I ◽  
Spinal Muscular Atrophy Type

Preimplantation genetic diagnosis for spinal muscular atrophy type I

Neurology ◽  
1999 ◽  
Vol 53 (5) ◽  
pp. 1087-1087 ◽  
Author(s):  
L. Fallon ◽  
G. L. Harton ◽  
M. E. Sisson ◽  
E. Rodriguez ◽  
L. K. Field ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Preimplantation Genetic Diagnosis ◽  
Muscular Atrophy ◽  
Genetic Diagnosis ◽  
Type I ◽  
Spinal Muscular Atrophy Type
Sign in / Sign up

Export Citation Format

Share Document