95 results on '"Spinal muscular atrophy type I"'
Search Results
2. The Effect of Spinal Orthosis on the Development of Scoliosis and Chest Deformity in Type I Spinal Muscular Atrophy
- Author
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Emre DANSUK, MSc, Physiotherapist
- Published
- 2023
3. Body Weight Support Harness System in Spinal Muscular Atrophy
- Author
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Novartis and Megan Iammarino, Research Physical Therapist
- Published
- 2023
4. Single-Dose Gene Replacement Therapy Using for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies
- Author
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PRA Health Sciences
- Published
- 2022
5. Clinical Trial to Assess the Safety and Efficacy of EXG001-307 in Patients With Spinal Muscular Atrophy Type 1
- Published
- 2022
6. Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children: A Cross-Sectional Study.
- Author
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de-Andrés-Beltrán, Beatriz, Güeita-Rodríguez, Javier, Palacios-Ceña, Domingo, and Rodríguez-Fernández, Ángel Luis
- Subjects
MUSCULAR atrophy ,SCIENTIFIC observation ,CROSS-sectional method ,PHYSICAL therapy ,HEALTH status indicators ,QUESTIONNAIRES ,DESCRIPTIVE statistics ,SCOLIOSIS ,STATISTICAL sampling ,PHENOTYPES ,MOTOR ability - Abstract
Spinal Muscular Atrophy (SMA) type I has classically presented extremely severe clinical features. New pharmacological treatments have led to a new phenotype of SMA. The aim of this study was to describe the current health and functional status of children with SMA. A cross-sectional study was conducted based on the STROBE guidelines. Patient questionnaires and standardized tools were used. A descriptive analysis was conducted establishing the proportions of subjects for each of the characteristics of interest. In total, 51 genetically confirmed SMA type I subjects were included. Fifty-seven percent received oral feeding, 33% received tube feeding and 10% combined both. Moreover, 21.6% had tracheostomies, and 9.8% needed more than 16 h/d ventilatory support. Regarding orthopedic status, 66.7% had scoliosis, and 68.6% had hip subluxation or dislocation. Up to 67% were able to sit independently, 23.5% walked with support and one child walked independently. Current SMA type I is a different entity from the classic phenotype but also from types II and III. In addition, no differences were found between SMA type I subgroups. These findings may enable the professionals involved in the care of these patients to improve their interventions in terms of prevention and rehabilitation measures for these children. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
7. Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children: A Cross-Sectional Study
- Author
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Beatriz de-Andrés-Beltrán, Javier Güeita-Rodríguez, Domingo Palacios-Ceña, and Ángel Luis Rodríguez-Fernández
- Subjects
Spinal Muscular Atrophy type I ,physiotherapy ,scoliosis ,motor function ,rehabilitation ,Pediatrics ,RJ1-570 - Abstract
Spinal Muscular Atrophy (SMA) type I has classically presented extremely severe clinical features. New pharmacological treatments have led to a new phenotype of SMA. The aim of this study was to describe the current health and functional status of children with SMA. A cross-sectional study was conducted based on the STROBE guidelines. Patient questionnaires and standardized tools were used. A descriptive analysis was conducted establishing the proportions of subjects for each of the characteristics of interest. In total, 51 genetically confirmed SMA type I subjects were included. Fifty-seven percent received oral feeding, 33% received tube feeding and 10% combined both. Moreover, 21.6% had tracheostomies, and 9.8% needed more than 16 h/d ventilatory support. Regarding orthopedic status, 66.7% had scoliosis, and 68.6% had hip subluxation or dislocation. Up to 67% were able to sit independently, 23.5% walked with support and one child walked independently. Current SMA type I is a different entity from the classic phenotype but also from types II and III. In addition, no differences were found between SMA type I subgroups. These findings may enable the professionals involved in the care of these patients to improve their interventions in terms of prevention and rehabilitation measures for these children.
- Published
- 2023
- Full Text
- View/download PDF
8. Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
- Author
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Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Jean-Marie Cuisset, Claude Cances, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil-Taris, Ulrike Walther-Louvier, Pascal Sabouraud, Mondher Chouchane, Catherine Vanhulle, Valérie Trommsdorff, Anne Pervillé, Hervé Testard, Emmanuelle Lagrue, Catherine Sarret, Anne-Laude Avice, Pierre Beze-Beyrie, Vanessa Pauly, Susana Quijano-Roy, Brigitte Chabrol, and Isabelle Desguerre
- Subjects
Spinal muscular atrophy type I ,Spinal muscular atrophy type II ,Nusinersen ,Motor function measure ,MFM ,Medicine - Abstract
Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in France since May 2017. The aim of this article is to report results after 1 year of treatment with intrathecal nusinersen in children with SMA types 1 and 2 in France. Comparisons between treatment onset (T0) and after 1 year of treatment (Y1) were made in terms of motor function and need for nutritional and ventilatory support. Motor development milestone achievements were evaluated using the modified Hammersmith Infant Neurologic Examination–Part 2 (HINE-2) for patients under 2 years of age and Motor Function Measure (MFM) scores for patients over 2 years of age. Results Data on 204 SMA patients (type 1 or 2) were retrospectively collected from the 23 French centers for neuromuscular diseases. One hundred and twenty three patients had been treated for at least 1 year and were included, 34 of whom were classified as type 1 (10 as type 1a/b and 24 as type 1c) and 89 as type 2. Survival motor Neuron 2 (SMN2) copy numbers were available for all but 6 patients. Patients under 2 years of age (n = 30), had significantly higher HINE-2 scores at year 1 than at treatment onset but used more nutritional and ventilatory support. The 68 patients over 2 years of age evaluated with the Motor Function Measure test had significantly higher overall scores after 1 year, indicating that their motor function had improved. The scores were higher in the axial and proximal motor function (D2) and distal motor function (D3) parts of the MFM scale, but there was no significant difference for standing and transfer scores (D1). No child in either of the two groups achieved walking. Conclusion Nusinersen offers life-changing benefits for children with SMA, particularly those with more severe forms of the disorder. Caregiver assessments are positive. Nevertheless, patients remain severely disabled and still require intensive support care. This new treatment raises new ethical challenges.
- Published
- 2020
- Full Text
- View/download PDF
9. Autopsy of a child with Spinal muscular atrophy Type I (Werdnig‑Hoffmann disease)
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Manoj Gopal Madakshira, Sonal Singla, Kirti Gupta, Sayeeda Zahan, Pradip Paria, and Jitendra Kumar Sahu
- Subjects
Gliosis ,microvesicular steatosis ,neurogenic atrophy ,spinal muscular atrophy type I ,Medicine ,Internal medicine ,RC31-1245 - Abstract
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large group of genetic disorders characterized by slowly progressive degeneration of lower motor neurons. The mutation is seen in the SMN1 gene mapped on chromosome 5. Depending on the age of the onset and the degree of severity, SMA has three subtypes. We discuss the autopsy findings in a case of Type 1 SMA also known by the name Werdnig-Hoffmann disease, to highlight the primary changes in the spinal cord, and skeletal muscle with association changes in the liver and terminal respiratory complications.
- Published
- 2021
10. Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation.
- Author
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Foppiani, Andrea, De Amicis, Ramona, Leone, Alessandro, Ravella, Simone, Bedogni, Giorgio, Battezzati, Alberto, D'Amico, Adele, Bertini, Enrico, Pedemonte, Marina, Bruno, Claudio, Agosto, Caterina, Mastella, Chiara, Giaquinto, Ester, Masson, Riccardo, Baranello, Giovanni, and Bertoli, Simona
- Abstract
Body composition assessment is paramount for spinal muscular atrophy type I (SMA I) patients, as weight and BMI have proven to be misleading for these patients. Despite its importance, no disease-specific field method is currently available, and the assessment of body composition of SMA I patients requires reference methods available only in specialized settings. To develop predictive fat mass equations for SMA I children based on simple measurements, and compare existing equations to the new disease-specific equations. Demographic, clinical and anthropometric data were examined as potential predictors of the best candidate response variable and non-linear relations were taken into account by transforming continuous predictors with restricted cubic splines. Alternative models were fitted including all the dimensions revealed by cluster analysis of the predictors. The best models were then internally validated, quantifying optimism of the obtained performance measures. The contribution of nusinersen treatment to the unexplained variability of the final models was also tested. A total of 153 SMA I patients were included in the study, as part of a longitudinal observational study in SMA children conducted at the International Center for the Assessment of Nutritional Status (ICANS), University of Milan. The sample equally represented both sexes (56% females) and a wide age range (from 3 months to 12 years, median 1.2 years). Four alternative models performed equally in predicting fat mass fraction (fat mass/body weight). The most convenient was selected and further presented. The selected model uses as predictors sex, age, calf circumference and the sum of triceps, suprailiac and calf skinfold thicknesses. The model showed high predictive ability (optimism corrected coefficient of determination, R
2 = 0.72) and internal validation indicated little optimism both in performance measures and model calibration. The addition of nusinersen as a predictor variable did not improve the prediction. The disease-specific equation was more accurate than the available fat mass equations. The developed prediction model allows the assessment of body composition in SMA I children with simple and widely available measures and with reasonable accuracy. [ABSTRACT FROM AUTHOR]- Published
- 2021
- Full Text
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11. CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I
- Author
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Families of Spinal Muscular Atrophy, Leadiant Biosciences, Inc., and Kathryn Swoboda, Associate Professor, Neurology and Pediatrics Director, Pediatric Motor Disorders Research Program
- Published
- 2015
12. Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study.
- Author
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Ou, Shan-Fu, Ho, Che-Sheng, Lee, Wang-Tso, Lin, Kuang-Lin, Jones, Cynthia C., and Jong, Yuh-Jyh
- Subjects
- *
SPINAL muscular atrophy , *NATURAL history , *LONGITUDINAL method , *MOTOR neurons , *ENDOTRACHEAL tubes - Abstract
Spinal muscular atrophy (SMA) is caused by a defect in the survival motor neuron 1 (SMN1) gene. The Cooperative Study of the natural history of SMA Type I in Taiwan is a retrospective, longitudinal, observational study that helps in further understanding SMA disease progression in patients who have not received disease-modifying therapeutic interventions. Case report forms were used to collect demographics; genetic confirmation; SMN2 copy number; treatment patterns; and clinical outcomes including ventilator use, endotracheal tube intubation, tracheostomy, gastrostomy, complications, and survival. A total of 111 patients with SMA Type I were identified over the study period (1979–2015). Mean (median) age of onset and age at confirmed diagnosis were 1.3 (0.8) and 4.9 (4.4) months, respectively. SMN1 deletion/mutation was documented in 70 patients and SMN2 copy number in 32 (2 copies, n = 20; 3 copies, n = 12). At 240 months, survival probability for patients born during 1995–2015 versus 1979–1994 was significantly longer (p = 0.0057). Patients with 3 SMN2 copies showed substantially longer 240-month survival versus patients with 2 SMN2 copies. Over the 36-year period, mean (median) age at death was 31.9 (8.8) months. As of December 2015, 95 patients had died, 13 were alive, and 3 were lost to follow-up. The use of supportive measures (tracheostomy and gastrostomy) was associated with improved survival. These data describe the short survival of patients with SMA Type I in Taiwan in the pretreatment era, emphasizing the positive impact of supportive measures on survival. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
13. Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
- Author
-
Audic, Frédérique, de la Banda, Marta Gomez Garcia, Bernoux, Delphine, Ramirez-Garcia, Paola, Durigneux, Julien, Barnerias, Christine, Isapof, Arnaud, Cuisset, Jean-Marie, Cances, Claude, Richelme, Christian, Vuillerot, Carole, Laugel, Vincent, Ropars, Juliette, Altuzarra, Cécilia, Espil-Taris, Caroline, Walther-Louvier, Ulrike, Sabouraud, Pascal, Chouchane, Mondher, Vanhulle, Catherine, and Trommsdorff, Valérie
- Subjects
- *
MOTOR neurons , *SPINAL muscular atrophy , *NEUROMUSCULAR diseases , *SPINAL cord , *NUTRITIONAL requirements , *SCIENTIFIC observation - Abstract
Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in France since May 2017. The aim of this article is to report results after 1 year of treatment with intrathecal nusinersen in children with SMA types 1 and 2 in France. Comparisons between treatment onset (T0) and after 1 year of treatment (Y1) were made in terms of motor function and need for nutritional and ventilatory support. Motor development milestone achievements were evaluated using the modified Hammersmith Infant Neurologic Examination-Part 2 (HINE-2) for patients under 2 years of age and Motor Function Measure (MFM) scores for patients over 2 years of age.Results: Data on 204 SMA patients (type 1 or 2) were retrospectively collected from the 23 French centers for neuromuscular diseases. One hundred and twenty three patients had been treated for at least 1 year and were included, 34 of whom were classified as type 1 (10 as type 1a/b and 24 as type 1c) and 89 as type 2. Survival motor Neuron 2 (SMN2) copy numbers were available for all but 6 patients. Patients under 2 years of age (n = 30), had significantly higher HINE-2 scores at year 1 than at treatment onset but used more nutritional and ventilatory support. The 68 patients over 2 years of age evaluated with the Motor Function Measure test had significantly higher overall scores after 1 year, indicating that their motor function had improved. The scores were higher in the axial and proximal motor function (D2) and distal motor function (D3) parts of the MFM scale, but there was no significant difference for standing and transfer scores (D1). No child in either of the two groups achieved walking.Conclusion: Nusinersen offers life-changing benefits for children with SMA, particularly those with more severe forms of the disorder. Caregiver assessments are positive. Nevertheless, patients remain severely disabled and still require intensive support care. This new treatment raises new ethical challenges. [ABSTRACT FROM AUTHOR]- Published
- 2020
- Full Text
- View/download PDF
14. Predictive energy equations for spinal muscular atrophy type I children.
- Author
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Bertoli, Simona, De Amicis, Ramona, Bedogni, Giorgio, Foppiani, Andrea, Leone, Alessandro, Ravella, Simone, Mastella, Chiara, Baranello, Giovanni, Masson, Riccardo, Bertini, Enrico, D'Amico, Adele, Pedemonte, Marina, Bruno, Claudio, Agosto, Caterina, Giaquinto, Ester, Bassano, Michela, and Battezzati, Alberto
- Subjects
ANTHROPOMETRY ,ARTIFICIAL respiration ,CALORIMETRY ,ENERGY metabolism ,NUCLEOTIDES ,NUTRITIONAL requirements ,REGRESSION analysis ,SPINAL muscular atrophy ,STATISTICAL models ,DESCRIPTIVE statistics ,NUTRITIONAL status ,CHILDREN - Abstract
Background Knowledge on resting energy expenditure (REE) in spinal muscular atrophy type I (SMAI) is still limited. The lack of a population-specific REE equation has led to poor nutritional support and impairment of nutritional status. Objective To identify the best predictors of measured REE (mREE) among simple bedside parameters, to include these predictors in population-specific equations, and to compare such models with the common predictive equations. Methods Demographic, clinical, anthropometric, and treatment variables were examined as potential predictors of mREE by indirect calorimetry (IC) in 122 SMAI children consecutively enrolled in an ongoing longitudinal observational study. Parameters predicting REE were identified, and prespecified linear regression models adjusted for nusinersen treatment (discrete: 0 = no; 1 = yes) were used to develop predictive equations, separately in spontaneously breathing and mechanically ventilated patients. Results In naïve patients, the median (25th, 75th percentile) mREE was 480 (412, 575) compared with 394 (281, 554) kcal/d in spontaneously breathing and mechanically ventilated patients, respectively (P = 0.009). In nusinersen-treated patients, the median (25th, 75th percentile) mREE was 609 (592, 702) compared with 639 (479, 723) kcal/d in spontaneously breathing and mechanically ventilated patients, respectively (P = 0.949). Both in spontaneously breathing and mechanically ventilated patients, the best prediction of REE was obtained from 3 models, all using as predictors: 1 body size related measurement and nusinersen treatment status. Nusinersen treatment was correlated with higher REE both in spontaneously breathing and mechanically ventilated patients. The population-specific equations showed a lower interindividual variability of the bias than the other equation tested, however, they showed a high root mean squared error. Conclusions We demonstrated that ventilatory status, nusinersen treatment, demographic, and anthropometric characteristics determine energy requirements in SMAI. Our SMAI-specific equations include variables available in clinical practice and were generally more accurate than previously published equations. At the individual level, however, IC is strongly recommended for assessing energy requirements. Further research is needed to externally validate these predictive equations. [ABSTRACT FROM AUTHOR]
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- 2020
- Full Text
- View/download PDF
15. Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type I (NPTUNE 02)
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National Institute of Neurological Disorders and Stroke (NINDS) and René Gonin, PhD (Math. Stats.), Senior Biostatistician and NPTUNE Principal Investigator
- Published
- 2010
16. Onabotulinum Toxin A Injections Into the Salivary Glands for Spinal Muscle Atrophy Type I: A Prospective Case Series of 4 Patients.
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Shoval, Hannah Aura, Antelis, Esther, Hillman, Andrew, Xiaofang Wei, Tan, Patricia, Alejandro, Ruth, and Heakyung Kim
- Subjects
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NUCLEOTIDES , *RESPIRATORY insufficiency , *ASPIRATION pneumonia , *DEGLUTITION disorders , *GLYCOPYRROLATE , *BAD breath , *BOTULINUM toxin , *DROOLING , *ELECTRIC stimulation , *HYPERCAPNIA , *LONGITUDINAL method , *CASE studies , *MUSCULAR atrophy , *SCIENTIFIC observation , *QUESTIONNAIRES , *SALIVARY glands , *SPINE , *STATISTICS , *T-test (Statistics) , *ULTRASONIC imaging , *DATA analysis , *TREATMENT effectiveness , *DIAGNOSIS , *PREVENTION , *THERAPEUTICS , *DISEASE risk factors - Abstract
Objective: The aim of the study was to investigate the safety and efficacy of onabotulinum toxin A injection to the salivary glands under ultrasound guidance for the treatment of sialorrhea in patients with spinal muscular atrophy type I. Design: Prospective case series with four patients with spinal muscular atrophy type I who received onabotulinum toxin A injection to parotid and submandibular glands for sialorrhea as part of clinical care. All four patients received validated surveys for measuring drooling, including objective measures of number of bib changes, and number of mouth wipes before injection and 4-6 wks after injection. Research was limited to survey completion. Scales included the Drooling Severity and Frequency Scale and the Drooling Impact Scale as well as a new scale used in our clinic, the Posterior Drooling Scales looking at coughing/choking and number of aspiration pneumonias. Results: There were no adverse events. All four patients showed clinically significant improvements. The improvement in drooling using the Drooling Impact Scale was statistically significant (paired t test, t = 3.243, P = 0.048). All patients improved with number of mouth wipes. Conclusion: Ultrasound-guided onabotulinumtoxin A injections to the salivary glands may be a safe and effective method of decreasing drooling in patients with spinal muscular atrophy type I. [ABSTRACT FROM AUTHOR]
- Published
- 2018
- Full Text
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17. Current Aspects of Clinical Genetic Diagnosis in Werdnig-Hoffman Spinal Muscular Atrophy.
- Author
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Corches, Axinia
- Subjects
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SPINAL muscular atrophy ,NEUROMUSCULAR disease diagnosis - Abstract
Spinal muscular atrophy (SMA) Type I, Werdnig-Hoffman is the most severe form of spinal muscular atrophies with genetic determinism, autosomal recessive transmission and it is caused by genetic disorder in the SMN gene located on chromosome 5q, which results in early muscle atrophy due to progressive degeneration of spinal motor neurons. SMA Werdnig-Hoffman is an emergency in pediatric neurology and early diagnosis is important for the therapeutic approach, the rapid progression of the disease, life expectancy being situated around the age of 6 months. The clinic symptomatology is specific in the first days of life. The child should be monitored in the intensive care service for the support of cardio-respiratory functions. The characteristic appearance of a child with generalized hypotonia and cardio-respiratory failure phenomena require genetic investigation starting with the first days after birth to detect the genetic defect in the SMN gene, in chromosome 5q. The work summarizes the clinical genetic characteristics of the disease according to current professional literature. It emphasizes the importance of early diagnosis and of early initiation of management, because type I spinal muscular atrophy is a neurological emergency. [ABSTRACT FROM AUTHOR]
- Published
- 2018
18. Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.
- Author
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Krosschell, Kristin J., Kissel, John T., Townsend, Elise L., Simeone, Sarah D., Zhang, Ren Zhe, Reyna, Sandra P., Crawford, Thomas O., Schroth, Mary K., Acsadi, Gyula, Kishnani, Priya S., Von Kleist‐Retzow, Jürgen‐Christoph, Hero, Barbara, D'Anjou, Guy, Smith, Edward C., Elsheikh, Bakri, Simard, Louise R., Prior, Thomas W., Scott, Charles B., Lasalle, Bernard, and Sakonju, Ai
- Abstract
Introduction: The aim of this study was to determine the safety and therapeutic potential of L-carnitine and valproic acid (VPA) in infants with spinal muscular atrophy (SMA).Methods: Our investigation was an open-label phase 2 multicenter trial of L-carnitine and VPA in infants with SMA type I with retrospective comparison to an untreated, matched cohort. Primary outcomes were: safety and adverse events; secondary outcomes were survival, time to death/>16 hours/day of ventilator support; motor outcomes; and maximum ulnar compound motor action potential amplitude.Results: A total of 245 AEs were observed in 35 of the 37 treated subjects (95%). Respiratory events accounted for 49% of all adverse events, resulting in 14 deaths. Survival was not significantly different between treated and untreated cohorts.Discussion: This trial provides evidence that, in infants with SMA type I, L-carnitine/VPA is ineffective at altering survival. The substantial proportion of infants reaching end-points within 6 months of enrollment underscores the urgent need for pre-symptomatic treatment in SMA type I. Muscle Nerve 57: 193-199, 2018. [ABSTRACT FROM AUTHOR]- Published
- 2018
- Full Text
- View/download PDF
19. Spinal Muscular Atrophy, types I and II: What are the differences in body composition and resting energy expenditure?
- Author
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Bertoli, Simona, De Amicis, Ramona, Mastella, Chiara, Pieri, Giulia, Giaquinto, Ester, Battezzati, Alberto, Leone, Alessandro, and Baranello, Giovanni
- Abstract
Summary Background & aims Different neuromuscular functional domains in types I and II Spinal Muscular Atrophy (SMAI and SMAII) could lead to differences in body composition (BC) and resting energy expenditure (REE). Their identification could provide the key to defining appropriate strategies in clinical dietary management, but data comparing SMAI and SMAII in terms of BC and REE are not yet available. We measured total and regional fat (FM), lean (LBM), mineral (BMC) masses, body water (total, intra- and extra-cellular, TBW, ICW, ECW) and REE in a sample of SMAI and II children, matched for age and sex, and also adjusting for body size to compare these features of the two SMA phenotypes. Methods 15 SMAI and 15 SMAII children, (M/F = 9/6 vs 9/6, age 3.6 ± 1.9 vs 3.5 ± 1.8 years, p = 0.99), confirmed genetically, were measured as follows: Anthropometric measurements [Body Weight (BW), Supine Length (SL), Arm Length (AL), Femur Length (FL), Tibia Length (TL)], Dual x-ray Energy Absorptiometry (DEXA) [total and segmental FM, LBM, FFM, and BMC], Bioelectrical impedance (BIA) [TBW, ICW, ECW] and Indirect Calorimetry (REE, respiratory quotients) were collected by the same trained dietician. BW, SL and Body Mass Index (BMI) Z-scores were calculated according to CDC Growth Charts (2000). Results SMA children had high percentages of FM and a lower percentage of TBW and ECW compared to the respective reference values for sex and age, whereas the BMC percentages did not differ, even splitting the two phenotypes. SMA I children had a lower BW and BMI-Z score compared to children with SMA II, but similar total and segmental FM. On the contrary, total FFM and LBM were significantly lower in SMAI (7290.0 ± 1729.1 g vs 8410.1 ± 1508.4 g; 6971.8 ± 1637.1 g vs 8041.7 ± 1427.7 g, p = 0.039, p = 0.037, respectively), particularly at the trunk level. Arm BMC also resulted significantly lower in SMAI. The measured REE values were similar (684 ± 143 kcal/day vs 703 ± 122 Kcal/day p = 0.707) whereas REE per FFM unit was higher in SMA I children than in SMA II (95 ± 12 kcal/FFMkg vs 84 ± 11 kcal/FFMkg p = 0.017). Conclusions This study has shown that BW and BMI Z-score measurements alone can be misleading in assessing nutritional status, particularly in SMAI. The differences between SMAI and II in total and regional BC are related only to FFM, LBM and BMC, and seem to be more linked to the magnitude of neurofunctional impairment rather than to the nutritional status derangement. SMA I and SMA II children can have different energy requirements in relation to their specific BC and hypermetabolism of FFM. Based on these results, our recommendation is to use direct BC and REE measurements in the nutritional care process until SMA-specific predictive equations become available. [ABSTRACT FROM AUTHOR]
- Published
- 2017
- Full Text
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20. Tailoring NIV by dynamic laryngoscopy in a child with spinal muscular atrophy type I
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Tiina Andersen, Magnus Hilland, Ola Drange Røksund, Maria Vollsæter, and Anett Skjoldmo
- Subjects
medicine.medical_specialty ,Medicine (General) ,Neurology ,pediatrics ,Laryngoscopy ,Individualized treatment ,Case Report ,Case Reports ,030204 cardiovascular system & hematology ,VDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Nevrologi: 752 ,03 medical and health sciences ,0302 clinical medicine ,R5-920 ,VDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Pediatri: 760 ,ear nose and throat ,medicine ,In patient ,Respiratory system ,Spinal muscular atrophy type I ,medicine.diagnostic_test ,business.industry ,neurology ,General Medicine ,Respiratory Medicine ,030220 oncology & carcinogenesis ,Anesthesia ,Medicine ,business ,respiratory medicine ,Chronic respiratory failure - Abstract
Dynamic laryngoscopy during noninvasive (NIV) respiratory therapy is feasible and may facilitate optimal and individualized treatment in patients with chronic respiratory failure, also in children.
- Published
- 2021
21. A case series of paediatric patients with spinal muscular atrophy type I undergoing scoliosis correction surgery
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T. Kong Kam Wa, K. O’Brien, and C. Holmes
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Spinal muscular atrophy type I ,medicine.medical_specialty ,Fuel Technology ,business.industry ,medicine ,Energy Engineering and Power Technology ,Case Report ,Scoliosis correction ,business ,Postoperative ventilation ,Surgery ,Paediatric patients - Abstract
Spinal muscular atrophy is a neuromuscular disorder with degeneration of spinal motor neurons. Type I is a severe variant that was recently shown to be amenable to treatment with the antisense oligonucleotide nusinersen. As a result of increased life expectancy with this treatment, more children with spinal muscular atrophy type I are presenting for spinal correction surgery. In this case series, we present four such patients who underwent spinal surgery at our institution over the course of one year. Pre‐operative assessment showed evidence of reduced respiratory function requiring nocturnal non‐invasive ventilation in all four patients. A difficult airway was encountered in two of the four patients. Postoperative complications were ubiquitous and included CSF leak, poor wound healing, metal frame exposure, frame instability and wound infection. There were no postoperative respiratory complications and all four children returned to their respiratory baseline postoperatively. All patients underwent successful lumbar puncture and intrathecal nusinersen injection following their spinal surgeries. Given the risk of complications and prolonged recovery following spinal surgery, a detailed family discussion is advisable.
- Published
- 2021
22. Neuroblastoma in a Patient With Spinal Muscular Atrophy Type I: Is It Just a Coincidence?
- Author
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Sag, Erdal, Sen, Hilal Susam, Haliloglu, Goknur, Yalcin, Bilgehan, and Kutluk, Tezer
- Subjects
- *
NEUROBLASTOMA , *SPINAL muscular atrophy , *MOTOR neurons , *MUSCLE hypotonia , *MUSCLE weakness - Abstract
Spinal muscular atrophy is an autosomal recessive disorder characterized by progressive degeneration of anterior horn cells of the spinal cord resulting in hypotonia, skeletal muscle atrophy, and weakness. Herein, we report a 4-month-old male infant who presented to our hospital with an abdominal mass that was diagnosed as neuroblastoma and spinal muscular atrophy type I. We would like to discuss the course and differential diagnosis with an algorithm leading to the diagnosis in this peculiar patient. To our knowledge, coexistence of spinal muscular atrophy type I and neuroblastoma is defined for the first time in the literature. [ABSTRACT FROM PUBLISHER]
- Published
- 2015
- Full Text
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23. Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study.
- Author
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CONTRERAS-CAPETILLO, SILVINA NOEMI, GALLARDO BLANCO, HUGO LEONID, CERDA-FLORES, RICARDO MARTIN, LUGO-TRAMPE, JOSÉ, TORRES-MUNOZ, IRIS, BRAVO-ORO, ANTONIO, ESMER, CARMEN, and DE VILLARREAL, LAURA ELLA MARTÍNEZ
- Subjects
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ELECTRON-transfer catalysis , *MIRROR neurons , *MUSCLE diseases , *NEUROMUSCULAR diseases , *MUSCULAR atrophy - Abstract
Individuals who suffer from spinal muscular atrophy (SMA) exhibit progressive muscle weakness that frequently results in mortality in the most severe forms of the disease. In 98% of cases, there is a homozygous deletion of the survival of motor neuron 1 (SMN1) gene, and both parents carry the same heterozygous genetic abnormality in the majority of cases. Various population studies have been conducted to estimate the frequency of carriers and thereby identify the communities or countries in which children are at a high risk of being affected by SMA. However, the prevalence of SMA in Mexican populations has not yet been established. In the present pilot study, the frequency of the heterozygous deletion of the SMN1 gene was determined in two groups from northeastern (n=287) and central (n=133) Mexican Mestizo populations and compared with other ethnic populations. Amplification refractory mutation system polymerase chain reaction analysis yielded a disease carrier frequency of 11/420 (2.62%) healthy individuals, comprising 9/287 (3.14%) northeastern and 2/133 (1.5%) central Mexican individuals. In summary, no significant differences were identified between the northeastern and central populations of Mexico and other ethnic populations, with the exception of the general worldwide Hispanic population, which exhibited the lowest carrier frequency of 8/1,030. The results of the present study may be used to improve the evaluation procedure, and appear to justify further studies involving larger sample populations. [ABSTRACT FROM AUTHOR]
- Published
- 2015
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24. Current Aspects of Clinical Genetic Diagnosis in Werdnig-Hoffman Spinal Muscular Atrophy.
- Author
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Corches, Axinia
- Subjects
- *
GENETIC disorder diagnosis , *HUMAN chromosome abnormality diagnosis , *SPINAL muscular atrophy , *MUSCULAR atrophy , *SPINAL cord diseases - Abstract
Spinal muscular atrophy (SMA) Type I, Werdnig-Hoffman is the most severe form of spinal muscular atrophies with genetic determinism, autosomal recessive transmission and it is caused by genetic disorder in the SMN gene located on chromosome 5q, which results in early muscle atrophy due to progressive degeneration of spinal motor neurons. SMA Werdnig-Hoffman is an emergency in pediatric neurology and early diagnosis is important for the therapeutic approach, the rapid progression of the disease, life expectancy being situated around the age of 6 months. The clinic symptomatology is specific in the first days of life. The child should be monitored in the intensive care service for the support of cardio-respiratory functions. The characteristic appearance of a child with generalized hypotonia and cardio-respiratory failure phenomena require genetic investigation starting with the first days after birth to detect the genetic defect in the SMN gene, in chromosome 5q. The work summarizes the clinical genetic characteristics of the disease according to current professional literature. It emphasizes the importance of early diagnosis and of early initiation of management, because type I spinal muscular atrophy is a neurological emergency. [ABSTRACT FROM AUTHOR]
- Published
- 2015
25. Nutritional Practices at a Glance: Spinal Muscular Atrophy Type I Nutrition Survey Findings.
- Author
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Davis, Rebecca Hurst, Godshall, Barbara J., Seffrood, Erin, Marcus, Mary, Schroth, Mary K., LaSalle, Bernard A, Wong, Brenda, and Swoboda, Kathryn J.
- Subjects
- *
SPINAL muscular atrophy , *NUTRITION , *ELEMENTAL diet , *GENETIC disorders , *MUSCLE hypotonia - Abstract
Proactive nutritional management for children with spinal muscular atrophy type I can provide insight into improved spinal muscular atrophy care. This observational study consisted of a nutritional and medical history survey of children with spinal muscular atrophy type I collected in 2009-2011. Forty-four caregiver survey responses were evaluated using descriptive statistics. Average age of spinal muscular atrophy type I subjects was 5 years (5 mo-16 y). The subject cohort was composed of 22 males, 21 females, and 1 unreported. Nutrition support via feeding tube was utilized by 43 of 44 subjects. A majority of respondents reported using elemental or semi-elemental formula for subjects’ essential caloric intake (34 of 44). Formula intolerance issues were reported by many caregivers (27 of 44). Half of caregivers implemented dietary changes on their own or with guidance from other families; 15 caregivers consulted a registered dietitian. Survey responses and comments indicate need for evidence-based nutritional guidelines for spinal muscular atrophy. [ABSTRACT FROM PUBLISHER]
- Published
- 2014
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26. Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation
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Andrea Foppiani, Alberto Battezzati, Simone Ravella, Adele D'Amico, Alessandro Leone, Giovanni Baranello, Enrico Bertini, Simona Bertoli, E. Giaquinto, Riccardo Masson, Caterina Agosto, Ramona De Amicis, Giorgio Bedogni, Chiara Mastella, Claudio Bruno, and Marina Pedemonte
- Subjects
0301 basic medicine ,Male ,Coefficient of determination ,Nutritional Status ,030209 endocrinology & metabolism ,Spinal muscular atrophy type I ,Spinal Muscular Atrophies of Childhood ,Critical Care and Intensive Care Medicine ,Disease cluster ,Fat mass ,03 medical and health sciences ,0302 clinical medicine ,Predictive equation ,Models ,Predictive Value of Tests ,Reference Values ,Statistics ,Medicine ,Humans ,Fraction (mathematics) ,Longitudinal Studies ,Child ,Preschool ,030109 nutrition & dietetics ,Nutrition and Dietetics ,Models, Statistical ,Anthropometry ,business.industry ,Infant ,Statistical ,SMA ,Skinfold Thickness ,Nutrition Assessment ,Adipose Tissue ,Child, Preschool ,Nutritional status ,Female ,Body Composition ,Observational study ,Nusinersen ,business - Abstract
Summary Background Body composition assessment is paramount for spinal muscular atrophy type I (SMA I) patients, as weight and BMI have proven to be misleading for these patients. Despite its importance, no disease-specific field method is currently available, and the assessment of body composition of SMA I patients requires reference methods available only in specialized settings. Objective To develop predictive fat mass equations for SMA I children based on simple measurements, and compare existing equations to the new disease-specific equations. Design Demographic, clinical and anthropometric data were examined as potential predictors of the best candidate response variable and non-linear relations were taken into account by transforming continuous predictors with restricted cubic splines. Alternative models were fitted including all the dimensions revealed by cluster analysis of the predictors. The best models were then internally validated, quantifying optimism of the obtained performance measures. The contribution of nusinersen treatment to the unexplained variability of the final models was also tested. Results A total of 153 SMA I patients were included in the study, as part of a longitudinal observational study in SMA children conducted at the International Center for the Assessment of Nutritional Status (ICANS), University of Milan. The sample equally represented both sexes (56% females) and a wide age range (from 3 months to 12 years, median 1.2 years). Four alternative models performed equally in predicting fat mass fraction (fat mass/body weight). The most convenient was selected and further presented. The selected model uses as predictors sex, age, calf circumference and the sum of triceps, suprailiac and calf skinfold thicknesses. The model showed high predictive ability (optimism corrected coefficient of determination, R2 = 0.72) and internal validation indicated little optimism both in performance measures and model calibration. The addition of nusinersen as a predictor variable did not improve the prediction. The disease-specific equation was more accurate than the available fat mass equations. Conclusions The developed prediction model allows the assessment of body composition in SMA I children with simple and widely available measures and with reasonable accuracy.
- Published
- 2021
27. Vitamin D Intake Is Inadequate in Spinal Muscular Atrophy Type I Cohort: Correlations With Bone Health.
- Author
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Aton, Jennifer, Davis, Rebecca Hurst, Jordan, Kristine C., Scott, Charles B., and Swoboda, Kathryn J.
- Subjects
- *
PHYSIOLOGICAL effects of vitamin D , *VITAMIN D in human nutrition , *SPINAL muscular atrophy , *DUAL-energy X-ray absorptiometry , *BONE density - Abstract
Children with type I spinal muscular atrophy commonly demonstrate reduced bone mineral density. Our objectives were to evaluate and assess adequacy of vitamin D intake, serum levels, and association with bone mineral density. Assessments were completed using 3-day food records and dual energy x-ray absorptiometry scans. The spinal muscular atrophy type I cohort included 22 males and 18 females (N = 40), with a mean age of 18.6 months. Data collection occurred from 2001 to 2011. Seventy-five percent of patients had inadequate intake of vitamin D at the initial visit. Using mixed-effects analyses, vitamin D and calcium intakes correlated positively with bone mineral density (r = 0.31 and r = 0.53, respectively). Increased vitamin D and calcium consumption were associated with an increase in bone mineral density (P = .04 and P = .01, respectively). Vitamin D intake correlated positively with serum levels (r = 0.65). Further study is needed to determine optimal intakes of vitamin D and calcium in the spinal muscular atrophy type I population. [ABSTRACT FROM PUBLISHER]
- Published
- 2014
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28. Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease)
- Author
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Madakshira, Manoj Gopal, Singla, Sonal, Gupta, Kirti, Zahan, Sayeeda, Paria, Pradip, and Sahu, Jitendra Kumar
- Subjects
neurogenic atrophy ,Gliosis ,microvesicular steatosis ,spinal muscular atrophy type I - Abstract
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large group of genetic disorders characterized by slowly progressive degeneration of lower motor neurons. The mutation is seen in the SMN1 gene mapped on chromosome 5. Depending on the age of the onset and the degree of severity, SMA has three subtypes. We discuss the autopsy findings in a case of Type 1 SMA also known by the name Werdnig-Hoffmann disease, to highlight the primary changes in the spinal cord, and skeletal muscle with association changes in the liver and terminal respiratory complications.
- Published
- 2020
29. Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
- Author
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Brigitte Chabrol, Pierre Beze-Beyrie, Vincent Laugel, Carole Vuillerot, Anne-Laude Avice, Delphine Bernoux, Anne Perville, Cecilia Altuzarra, Christine Barnerias, Emmanuelle Lagrue, Paola Ramirez-Garcia, Catherine Sarret, Catherine Vanhulle, Jean-Marie Cuisset, Susana Quijano-Roy, Vanessa Pauly, Juliette Ropars, Caroline Espil-Taris, Frédérique Audic, Claude Cances, Julien Durigneux, Isabelle Desguerre, Arnaud Isapof, Hervé Testard, Mondher Chouchane, Marta Gomez Garcia de la Banda, Pascal Sabouraud, Valérie Trommsdorff, Ulrike Walther-Louvier, Christian Richelme, Institut Pascal (IP), and SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS)
- Subjects
Pediatrics ,medicine.medical_specialty ,[SDV]Life Sciences [q-bio] ,Oligonucleotides ,lcsh:Medicine ,Spinal muscular atrophy type I ,Spinal Muscular Atrophies of Childhood ,Motor function measure ,MFM ,Muscular Atrophy, Spinal ,03 medical and health sciences ,0302 clinical medicine ,Nusinersen ,Humans ,Medicine ,Pharmacology (medical) ,030212 general & internal medicine ,Child ,ComputingMilieux_MISCELLANEOUS ,Genetics (clinical) ,Motor skill ,Retrospective Studies ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,business.industry ,Research ,lcsh:R ,Significant difference ,Infant ,General Medicine ,Spinal muscular atrophy ,Motor neuron ,SMA ,Spinal cord ,medicine.disease ,3. Good health ,Spinal muscular atrophy type II ,medicine.anatomical_structure ,Observational study ,France ,business ,030217 neurology & neurosurgery - Abstract
Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in France since May 2017. The aim of this article is to report results after 1 year of treatment with intrathecal nusinersen in children with SMA types 1 and 2 in France. Comparisons between treatment onset (T0) and after 1 year of treatment (Y1) were made in terms of motor function and need for nutritional and ventilatory support. Motor development milestone achievements were evaluated using the modified Hammersmith Infant Neurologic Examination–Part 2 (HINE-2) for patients under 2 years of age and Motor Function Measure (MFM) scores for patients over 2 years of age. Results Data on 204 SMA patients (type 1 or 2) were retrospectively collected from the 23 French centers for neuromuscular diseases. One hundred and twenty three patients had been treated for at least 1 year and were included, 34 of whom were classified as type 1 (10 as type 1a/b and 24 as type 1c) and 89 as type 2. Survival motor Neuron 2 (SMN2) copy numbers were available for all but 6 patients. Patients under 2 years of age (n = 30), had significantly higher HINE-2 scores at year 1 than at treatment onset but used more nutritional and ventilatory support. The 68 patients over 2 years of age evaluated with the Motor Function Measure test had significantly higher overall scores after 1 year, indicating that their motor function had improved. The scores were higher in the axial and proximal motor function (D2) and distal motor function (D3) parts of the MFM scale, but there was no significant difference for standing and transfer scores (D1). No child in either of the two groups achieved walking. Conclusion Nusinersen offers life-changing benefits for children with SMA, particularly those with more severe forms of the disorder. Caregiver assessments are positive. Nevertheless, patients remain severely disabled and still require intensive support care. This new treatment raises new ethical challenges.
- Published
- 2020
30. Associated Risk Factors for Death and Need for Ventilation Support in Pediatric Patients with Spinal Muscular Atrophy Type I in a Middle-Income Country
- Author
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P. Gravina, F. De Castro, I. Esteban, J. Mozzoni, M.S. Monges, Hilda Verónica Aráoz, Y. Cantillo, and V. Aguerre
- Subjects
Spinal muscular atrophy type I ,Pediatrics ,medicine.medical_specialty ,business.industry ,Breathing ,Medicine ,business ,Middle income country - Published
- 2020
31. Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease)
- Author
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Sonal Singla, Kirti Gupta, Pradip Paria, Sayeeda Zahan, Manoj Gopal Madakshira, and Jitendra Kumar Sahu
- Subjects
0301 basic medicine ,Pathology ,medicine.medical_specialty ,Autopsy ,SMN1 ,Disease ,Degeneration (medical) ,Pathology and Forensic Medicine ,03 medical and health sciences ,0302 clinical medicine ,Internal Medicine ,medicine ,neurogenic atrophy ,Gliosis ,microvesicular steatosis ,business.industry ,Skeletal muscle ,Spinal muscular atrophy ,Spinal cord ,SMA ,medicine.disease ,030104 developmental biology ,medicine.anatomical_structure ,Article / Autopsy Case Report ,business ,030217 neurology & neurosurgery ,spinal muscular atrophy type I - Abstract
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large group of genetic disorders characterized by slowly progressive degeneration of lower motor neurons. The mutation is seen in the SMN1 gene mapped on chromosome 5. Depending on the age of the onset and the degree of severity, SMA has three subtypes. We discuss the autopsy findings in a case of Type 1 SMA also known by the name Werdnig-Hoffmann disease, to highlight the primary changes in the spinal cord, and skeletal muscle with association changes in the liver and terminal respiratory complications.
- Published
- 2020
32. Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States
- Author
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Cynthia C. Jones, Cathy Lally, W. Dana Flanders, Sandra P. Reyna, Wildon Farwell, and Suzanne F. Cook
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Adult ,Male ,Survival ,Population ,lcsh:Medicine ,Disease ,Spinal Muscular Atrophies of Childhood ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Prevalence ,Medicine ,Humans ,Pharmacology (medical) ,Life Tables ,030212 general & internal medicine ,education ,Genetics (clinical) ,Spinal muscular atrophy type I ,Estimation ,education.field_of_study ,business.industry ,Research ,lcsh:R ,General Medicine ,Spinal muscular atrophy ,medicine.disease ,SMA ,Infant mortality ,United States ,Survival Rate ,Regional studies ,Female ,business ,030217 neurology & neurosurgery ,Demography - Abstract
Background Spinal muscular atrophy (SMA) is a progressive, devastating disease and a leading inherited cause of infant mortality. The limited population-based literature is confined to small regional studies. Estimates of prevalence are needed to characterize the burden of SMA and to understand trends in prevalence by disease type as new treatments become available. The reported estimates of SMA genotype prevalence at birth consistently range from 8.5–10.3 per 100,000 live births, with a mid-range estimate of 9.4 per 100,000. Among infants born with an SMA genotype, it is reported that ~58% will develop SMA Type I, 29% will develop Type II, and 13% will develop Type III, respectively. Results Using evidence from peer-reviewed literature for SMA birth prevalence, age at symptom onset, and SMA type-specific survival, and incorporating United States vital statistics, we constructed life tables to estimate prevalence for SMA Types I, II, and III in the United States. We estimated the number of prevalent cases in the US to be 8526, 9429, and 10,333 based on a birth prevalence of 8.5, 9.4, and 10.3, respectively (the lower, midpoint, and upper ends of the reported range). Assuming the midpoint of 9.4 and US-reported survival, the type-specific population prevalence estimates were 1610 for SMA Type I, 3944 for SMA Type II, and 3875 for SMA Type III. Evidence-based estimates of the number of people living with SMA in the United States in the published literature were previously unavailable. Conclusions In the absence of a survey or other means to directly estimate prevalence in the US population, estimates can be calculated indirectly using a life table. Electronic supplementary material The online version of this article (10.1186/s13023-017-0724-z) contains supplementary material, which is available to authorized users.
- Published
- 2017
33. Gene-Targeted Therapies and Palliative Care in Children with Spinal Muscular Atrophy Type I: No Intrinsic Contradiction
- Author
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S Nolte-Buchholtz, Maria Janisch, Andreas Ziegler, Joachim Pietz, Maja von der Hagen, and Markus Blankenburg
- Subjects
Spinal muscular atrophy type I ,Palliative care ,business.industry ,Palliative Care ,MEDLINE ,General Medicine ,Spinal Muscular Atrophies of Childhood ,Bioinformatics ,Muscular Atrophy, Spinal ,Anesthesiology and Pain Medicine ,Text mining ,Hospice and Palliative Care Nursing ,Humans ,Medicine ,Child ,business ,General Nursing - Published
- 2021
34. Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I
- Author
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Poruk, Katherine E., Davis, Rebecca Hurst, Smart, Abby L., Chisum, Benjamin S., LaSalle, Bernie A., Chan, Gary M., Gill, Gurmail, Reyna, Sandra P., and Swoboda, Kathryn J.
- Subjects
- *
BONE density , *INGESTION , *HUMAN body composition , *SCIENTIFIC observation , *SPINAL muscular atrophy , *FAILURE to thrive syndrome , *DUAL-energy X-ray absorptiometry , *MUSCULAR atrophy in children , *INFANT diseases - Abstract
Abstract: Clinical experience supports a critical role for nutrition in patients with spinal muscular atrophy (SMA). Three-day dietary intake records were analyzed for 156 visits in 47 SMA type I patients, 25 males and 22 females, ages 1month to 13years (median 9.8months) and compared to dietary reference intakes for gender and age along with anthropometric measures and dual-energy X-ray absorptiometry (DEXA) data. Using standardized growth curves, twelve patients met criteria for failure to thrive (FTT) with weight for age <3rd percentile; eight met criteria based on weight for height. Percentage of body fat mass was not correlated with weight for height and weight for age across percentile categories. DEXA analysis further demonstrated that SMA type I children have higher fat mass and lower fat free mass than healthy peers (p <0.001). DEXA and dietary analysis indicates a strong correlation with magnesium intake and bone mineral density (r =0.65, p <0.001). Average caloric intake for 1–3years old was 68.8±15.8kcal/kg – 67% of peers’ recommended intake. Children with SMA type I may have lower caloric requirements than healthy age-matched peers, increasing risk for over and undernourished states and deficiencies of critical nutrients. Standardized growth charts may overestimate FTT status in SMA type I. [Copyright &y& Elsevier]
- Published
- 2012
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35. PRO67 The Use of Vignettes to Derive Health Utilities for Spinal Muscular Atrophy Type I (SMA-I)
- Author
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S. Mealing, A.B. Smith, and T. Bromilow
- Subjects
Spinal muscular atrophy type I ,medicine.medical_specialty ,Physical medicine and rehabilitation ,business.industry ,Health Policy ,Public Health, Environmental and Occupational Health ,Medicine ,SMA ,business - Published
- 2021
36. Spinal muscular atrophy type I mimicking critical illness neuropathy in a paediatric intensive care neonate: Electrophysiological features
- Author
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Fernández-Torre, José L., Teja, José L., Castellanos, Alvaro, Figols, Javier, Obeso, Tomás, and Arteaga, Rosa
- Subjects
- *
ALTERNATIVE medicine , *MUSCULAR atrophy , *PEDIATRIC emergencies , *SPINAL muscular atrophy - Abstract
Abstract: We report the case of a neonate with spinal muscular atrophy type I (SMA type I or Werdnig–Hoffman disease) who was initially misdiagnosis as having critical illness neuropathy. Electromyography (EMG) showed a moderate loss of voluntary and motor unit potentials of both neurogenic and myopathic appearance. Nerve conduction studies revealed the presence of a severe sensory–motor axonal neuropathy. Finally, a biopsy of quadriceps was compatible with the diagnosis of SMA type I. A genetic study confirmed the existence of a homozygous absence of exons 7 and 8 of the telomeric supervival motoneuron gene (SMN1 gene). [Copyright &y& Elsevier]
- Published
- 2008
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37. Descriptive Epidemiology of Spinal Muscular Atrophy Type I in Estonia.
- Author
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Vaidla, Eve, Talvik, Inga, Kulla, Andres, Kahre, Tiina, Hamarik, Malle, Napa, Aita, Metsvaht, Tuuli, Piirsoo, Andres, and Talvik, Tiina
- Subjects
SPINAL muscular atrophy ,CLINICAL pathology ,NEUROLOGY ,ENZYMATIC analysis ,EUROPEANS - Abstract
Spinal muscular atrophy is the second most frequent autosomal-recessive disorder in Europeans. There are no published epidemiological data on SMA in Estonia and other Baltic countries. The aim of this study was to estimate the incidence of SMA I in Estonia. All patients with SMA I diagnosed between January 1994 and December 2003 were included in the study. The diagnosis was established on the basis of neurological evaluation, ENMG findings, molecular studies and muscle biopsy. PCR and restriction enzyme analysis was used to detect the homozygous deletion of the SMN1 gene. A total of 9 cases of SMA I were identified during this 10-year period. The incidence of SMA I in Estonia is 1 in 14,400 live births, which is similar to the result from Hungary but lower than average incidence in the world. Only one of the patients was female. Typical SMN1 gene deletion was found in all cases. Copyright © 2006 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]
- Published
- 2006
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38. Single-Center Experience with Intrathecal Administration of Nusinersen in Children with Spinal Muscular Atrophy Type I
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Thorsten Langer, Matthias Eckenweiler, Janbernd Kirschner, Astrid Pechmann, David Schorling, and S. Wider
- Subjects
Spinal muscular atrophy type I ,medicine.medical_specialty ,business.industry ,General Medicine ,Single Center ,Intrathecal ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,Anesthesia ,Pediatrics, Perinatology and Child Health ,Physical therapy ,Medicine ,Nusinersen ,Neurology (clinical) ,business ,Administration (government) ,030217 neurology & neurosurgery - Published
- 2017
39. A Case of Spinal Muscular Atrophy, Type I, in Combination with Antenatal Cytomegalovirus Infection
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Yu.E. Pushkareva and I.A. Fedorov
- Subjects
Spinal muscular atrophy type I ,Cytomegalovirus infection ,Pathology ,medicine.medical_specialty ,business.industry ,medicine ,business - Published
- 2018
40. PRO15 COST-EFFECTIVENESS OF NUSINERSEN AND ONASEMNOGENE ABEPARVOVEC FOR INFANTILE-ONSET SPINAL MUSCULAR ATROPHY (TYPE I SMA) IN THE US
- Author
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Varun M. Kumar, Mark Stevenson, Shijie Ren, Praveen Thokala, A. Ellis, David Rind, and Richard H. Chapman
- Subjects
Spinal muscular atrophy type I ,Pediatrics ,medicine.medical_specialty ,Cost effectiveness ,business.industry ,Health Policy ,Public Health, Environmental and Occupational Health ,medicine ,Nusinersen ,Infantile onset ,SMA ,business - Published
- 2019
41. Correction : Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III
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Anastasios Bouikidis, Berthold P. Hauffa, Stefan A. Wudy, Ulrike Schara, Heike Kölbel, and Adela Della Marina
- Subjects
Spinal muscular atrophy type I ,medicine.medical_specialty ,Multidisciplinary ,Endocrinology ,business.industry ,Internal medicine ,lcsh:R ,medicine ,Medizin ,lcsh:Medicine ,lcsh:Q ,lcsh:Science ,business - Abstract
[This corrects the article DOI: 10.1371/journal.pone.0173144.].
- Published
- 2017
42. Respiratory muscle function in infants with spinal muscular atrophy type I
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Daniel J. Weiner, Oscar H. Mayer, Howard B. Panitch, Joseph M. McDonough, and Richard S. Finkel
- Subjects
Pulmonary and Respiratory Medicine ,Spinal muscular atrophy type I ,medicine.medical_specialty ,Labored breathing ,business.industry ,Clinical course ,Diaphragm (structural system) ,Surgery ,Pulmonary function testing ,Internal medicine ,Pediatrics, Perinatology and Child Health ,Respiratory muscle ,medicine ,Cardiology ,Plethysmograph ,medicine.symptom ,Respiratory system ,business - Abstract
Summary Objective To determine the feasibility and safety of respiratory muscle function testing in weak infants with a progressive neuromuscular disorder. Rationale Respiratory insufficiency is the major cause of morbidity and mortality in infants with spinal muscular atrophy type I (SMA-I). Hypothesis Tests of respiratory muscle strength, endurance, and breathing patterns can be performed safely in SMA-I infants. Useful data can be collected which parallels the clinical course of pulmonary function in SMA-I. Study design and subject selection An exploratory study of respiratory muscle function testing and breathing patterns in seven infants with SMA-I seen in our neuromuscular clinic. Measurements were made at initial study visit and, where possible, longitudinally over time. Methodology We measured maximal inspiratory (MIP) and transdiaphragmatic pressures, mean transdiaphragmatic pressure, airway occlusion pressure at 100 msec of inspiration, inspiratory and total respiratory cycle time, and aspects of relative thoracoabdominal motion using respiratory inductive plethysmography (RIP). The tension time index of the diaphragm and of the respiratory muscles, phase angle (Φ), phase relation during the total breath, and labored breathing index were calculated. Results Age at baseline study was 54–237 (median 131) days. Reliable data were obtained safely for MIP, phase angle, labored breathing index, and the invasive and non-invasive tension time indices, even in very weak infants. Data obtained corresponded to the clinical estimate of severity and predicted the need for respiratory support. Conclusions The testing employed was both safe and feasible. Measurements of MIP and RIP are easily performed tests that are well tolerated and provide clinically useful information for infants with SMA-I. Pediatr Pulmonol. 2014; 49:1234–1242. © 2014 Wiley Periodicals, Inc.
- Published
- 2014
43. Spinal Muscular Atrophy, types I and II: What are the differences in body composition and resting energy expenditure?
- Author
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Giovanni Baranello, E. Giaquinto, Giulia Pieri, Alessandro Leone, Ramona De Amicis, Chiara Mastella, Simona Bertoli, and Alberto Battezzati
- Subjects
0301 basic medicine ,Male ,medicine.medical_specialty ,Body water ,Nutritional Status ,Critical Care and Intensive Care Medicine ,Body composition ,Article ,SmaI ,Body Mass Index ,Muscular Atrophy, Spinal ,03 medical and health sciences ,0302 clinical medicine ,Absorptiometry, Photon ,Internal medicine ,Spinal Muscular Atrophy type II ,Electric Impedance ,Medicine ,Humans ,Resting energy expenditure ,Spinal Muscular Atrophy type I ,Dual-energy X-ray absorptiometry ,Nutrition and Dietetics ,medicine.diagnostic_test ,business.industry ,Body Weight ,Infant ,Calorimetry, Indirect ,Anatomy ,SMA ,030104 developmental biology ,Endocrinology ,Cross-Sectional Studies ,Child, Preschool ,Lean body mass ,Female ,Basal Metabolism ,business ,Bioelectrical impedance analysis ,Body mass index ,030217 neurology & neurosurgery - Abstract
Summary Background & aims Different neuromuscular functional domains in types I and II Spinal Muscular Atrophy (SMAI and SMAII) could lead to differences in body composition (BC) and resting energy expenditure (REE). Their identification could provide the key to defining appropriate strategies in clinical dietary management, but data comparing SMAI and SMAII in terms of BC and REE are not yet available. We measured total and regional fat (FM), lean (LBM), mineral (BMC) masses, body water (total, intra- and extra-cellular, TBW, ICW, ECW) and REE in a sample of SMAI and II children, matched for age and sex, and also adjusting for body size to compare these features of the two SMA phenotypes. Methods 15 SMAI and 15 SMAII children, (M/F = 9/6 vs 9/6, age 3.6 ± 1.9 vs 3.5 ± 1.8 years, p = 0.99), confirmed genetically, were measured as follows: Anthropometric measurements [Body Weight (BW), Supine Length (SL), Arm Length (AL), Femur Length (FL), Tibia Length (TL)], Dual x-ray Energy Absorptiometry (DEXA) [total and segmental FM, LBM, FFM, and BMC], Bioelectrical impedance (BIA) [TBW, ICW, ECW] and Indirect Calorimetry (REE, respiratory quotients) were collected by the same trained dietician. BW, SL and Body Mass Index (BMI) Z-scores were calculated according to CDC Growth Charts (2000). Results SMA children had high percentages of FM and a lower percentage of TBW and ECW compared to the respective reference values for sex and age, whereas the BMC percentages did not differ, even splitting the two phenotypes. SMA I children had a lower BW and BMI-Z score compared to children with SMA II, but similar total and segmental FM. On the contrary, total FFM and LBM were significantly lower in SMAI (7290.0 ± 1729.1 g vs 8410.1 ± 1508.4 g; 6971.8 ± 1637.1 g vs 8041.7 ± 1427.7 g, p = 0.039, p = 0.037, respectively), particularly at the trunk level. Arm BMC also resulted significantly lower in SMAI. The measured REE values were similar (684 ± 143 kcal/day vs 703 ± 122 Kcal/day p = 0.707) whereas REE per FFM unit was higher in SMA I children than in SMA II (95 ± 12 kcal/FFMkg vs 84 ± 11 kcal/FFMkg p = 0.017). Conclusions This study has shown that BW and BMI Z-score measurements alone can be misleading in assessing nutritional status, particularly in SMAI. The differences between SMAI and II in total and regional BC are related only to FFM, LBM and BMC, and seem to be more linked to the magnitude of neurofunctional impairment rather than to the nutritional status derangement. SMA I and SMA II children can have different energy requirements in relation to their specific BC and hypermetabolism of FFM. Based on these results, our recommendation is to use direct BC and REE measurements in the nutritional care process until SMA-specific predictive equations become available.
- Published
- 2016
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44. Difficult airway in a child with spinal muscular atrophy type I.
- Author
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Arima, Hajime, Sobue, Kazuya, Tanaka, Sayuki, Morishima, Tetsuro, Ando, Hiroshi, and Katsuya, Hirotada
- Subjects
- *
SPINAL muscular atrophy , *NEUROMUSCULAR diseases , *NEWBORN infants - Abstract
Summary Spinal muscular atrophy (SMA) type I is a relatively common inherited neuromuscular disease of hypotonic newborns, but is not associated with craniofacial abnormalities. There is nothing in the literature about difficult intubation in patients affected by this disease. We report a case of 34-month-old girl with SMA type I who was scheduled for emergency endoscopic laser treatment of tracheal stenosis caused by granulations. Tracheostomy was performed at 17 months of age and before this, the orotracheal tube was changed periodically without difficulty. For this laser treatment, orotracheal intubation was required. Preoperative physical examination revealed micrognathia and class II malocclusion. Opening her mouth was not difficult. Although difficult orotracheal intubation was predictable, we attempted to intubate her trachea as usual, but could not visualize the epiglottis. We decided to proceed with retrograde intubation, one of the standard techniques employed in a child with a difficult airway, via the tracheostome. A feeding nasogastric catheter was used as a guide catheter, and our strategy was successful. In this study we report a case of difficult airway in a child with SMA type I. The relationship between SMA type I with a tracheostome and difficult airway are discussed. [ABSTRACT FROM AUTHOR]
- Published
- 2003
- Full Text
- View/download PDF
45. Spinal muscular atrophy type I: Do the benefits of ventilation compensate for its burdens?
- Author
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Kelly Gray, Henry Kilham, David Isaacs, and Bernadette Tobin
- Subjects
Spinal muscular atrophy type I ,medicine.medical_specialty ,Quality of life ,business.industry ,education ,Pediatrics, Perinatology and Child Health ,medicine ,Physical therapy ,Breathing ,Spinal muscular atrophy ,medicine.disease ,SMA ,business - Abstract
We report the progress of an 8-year-old child with spinal muscular atrophy (SMA) type 1. The parents elected in infancy that the child should be on long-term ventilation, but all attempts to establish this care at home have failed, so the child remains ventilated in the hospital. The leader of the long-term ventilation team reports on the child's progress and describes a week in the child's life. Two paediatricians argue that the benefits of long-term ventilation have not and do not compensate the child for the burdens imposed on her by this treatment and explain why they would not support the withdrawal of long-term ventilation now. They argue that long-term ventilation might have been avoided by applying to a court of law when the child was an infant. An ethicist discusses ethical aspects of decision-making in SMA type 1.
- Published
- 2013
46. Spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease).
- Author
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Audic F and Barnerias C
- Subjects
- Diagnosis, Differential, Disease Progression, Humans, Infant, Infant, Newborn, Prognosis, Spinal Muscular Atrophies of Childhood diagnosis, Spinal Muscular Atrophies of Childhood physiopathology, Spinal Muscular Atrophies of Childhood therapy
- Abstract
Spinal muscular atrophy type I, also called Werdnig-Hoffmann disease, is the most serious form. The disease appears before the age of 6 months and is characterized by major global hypotonia and abolition of tendon reflexes, with children never being able to sit unaided. Cognitive development is normal and the expressive gaze of these children contrasts with the paralytic attitude. Respiratory involvement predominates in the intercostal muscles, and sometimes brainstem involvement are all serious aspects of the disease. Type I spinal muscular atrophy has been subdivided into 3 groups: - type IA, the clinical signs of which set in between birth and 15 days of life with sudden severe motor impairment, sucking-swallowing disorders attesting to bulbar involvement, respiratory distress. - type IB with onset of symptoms before the age of 3 months, which implies no head control - type IC starting between 3 and 6 months with the possibility of checking head control, often referred to as "I bis" by French practitioners. The development and use of innovative therapies in recent years does actually change the natural course of this disease. But we do not know for sure what the long-term evolution of infants who received these new therapies will be. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved., (Copyright © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.)
- Published
- 2020
- Full Text
- View/download PDF
47. Evaluation of Infants with Spinal Muscular Atrophy Type-I Using Convolutional Neural Networks
- Author
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Linda Lowes, Bilge Soran, and Katherine M. Steele
- Subjects
Spinal muscular atrophy type I ,Computer science ,Group method of data handling ,business.industry ,Disease progression ,Word error rate ,Pattern recognition ,02 engineering and technology ,Spinal muscular atrophy ,medicine.disease ,Convolutional neural network ,Regression ,03 medical and health sciences ,0302 clinical medicine ,0202 electrical engineering, electronic engineering, information engineering ,medicine ,020201 artificial intelligence & image processing ,Artificial intelligence ,business ,030217 neurology & neurosurgery - Abstract
Spinal Muscular Atrophy is the most common genetic cause of infant death. Due to its severity, there is a need for methods for automated estimation of disease progression. In this paper we propose a Convolutional-Neural-Network (CNN) model to estimate disease progression during infants’ natural behavior. With the proposed methodology, we were able to predict each child’s score on current behavior-based clinical exams with an average per-subject error of 6.96 out of 72 points (
- Published
- 2016
48. Life-threatening neuromuscular disorders: Interest in palliative care for children and their families
- Author
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Gail Geller and Cynda Hylton Rushton
- Subjects
Spinal muscular atrophy type I ,medicine.medical_specialty ,Palliative care ,Conceptualization ,Oncology (nursing) ,business.industry ,Duchenne muscular dystrophy ,medicine.disease ,Pediatric palliative care ,Anesthesiology and Pain Medicine ,Oncology ,Abandonment (emotional) ,Medicine ,Quality of care ,business ,Intensive care medicine ,Psychiatry - Abstract
Summary Traditionally palliative care has been associated with end-of-life care and abandonment of hope. Newer models of palliative care are now being integrated from the time of diagnosis for chronic, life-threatening conditions of childhood, creating a new vision of hope for the children and families affected by these disorders. In this paper we describe a broader conceptualization of pediatric palliative care and examine its applicability to two common life-threatening pediatric neuromuscular diseases.
- Published
- 2010
49. Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease).
- Author
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Madakshira MG, Singla S, Gupta K, Zahan S, Paria P, and Sahu JK
- Abstract
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large group of genetic disorders characterized by slowly progressive degeneration of lower motor neurons. The mutation is seen in the SMN1 gene mapped on chromosome 5. Depending on the age of the onset and the degree of severity, SMA has three subtypes. We discuss the autopsy findings in a case of Type 1 SMA also known by the name Werdnig-Hoffmann disease, to highlight the primary changes in the spinal cord, and skeletal muscle with association changes in the liver and terminal respiratory complications., Competing Interests: Conflict of interest: None, (Autopsy and Case Reports. ISSN 2236-1960. Copyright © 2020.)
- Published
- 2020
- Full Text
- View/download PDF
50. Spinal muscular atrophy type I mimicking critical illness neuropathy in a paediatric intensive care neonate: Electrophysiological features
- Author
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José L. Teja, José L. Fernández-Torre, Rosa Arteaga, Javier Figols, Tomas Obeso, and Alvaro Castellanos
- Subjects
Male ,medicine.medical_specialty ,Pathology ,Biopsy ,Neural Conduction ,SMN1 ,Disease ,Electromyography ,Spinal Muscular Atrophies of Childhood ,Intensive Care Units, Pediatric ,Infant, Newborn, Diseases ,Polyneuropathies ,Developmental Neuroscience ,Humans ,Medicine ,Muscle, Skeletal ,Spinal muscular atrophy type I ,medicine.diagnostic_test ,business.industry ,Genetic Diseases, Inborn ,Infant, Newborn ,General Medicine ,SMA ,Surgery ,Electrophysiology ,Pediatrics, Perinatology and Child Health ,Critical illness ,Neurology (clinical) ,business - Abstract
We report the case of a neonate with spinal muscular atrophy type I (SMA type I or Werdnig-Hoffman disease) who was initially misdiagnosis as having critical illness neuropathy. Electromyography (EMG) showed a moderate loss of voluntary and motor unit potentials of both neurogenic and myopathic appearance. Nerve conduction studies revealed the presence of a severe sensory-motor axonal neuropathy. Finally, a biopsy of quadriceps was compatible with the diagnosis of SMA type I. A genetic study confirmed the existence of a homozygous absence of exons 7 and 8 of the telomeric supervival motoneuron gene (SMN1 gene).
- Published
- 2008
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