Feeding difficulties in children and adolescents with spinal muscular atrophy type 2

Wadman, Renske I.; Amicis, Ramona De; Brusa, Chiara; Battezzati, Alberto; Bertoli, Simona; Davis, T; Main, Marion; Manzur, A.; Mastella, Chiara; Munot, Pinki; Imbrigiotta, N.; Schottlaender, Lucía; Sárközy, Anna; Trucco, Federica; Baranello, Giovanni; Scoto, Mariacristina; Muntoni, Francesco

doi:10.1016/j.nmd.2020.12.007

Cited by 16 publications

(23 citation statements)

References 52 publications

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“…Most natural history studies have focused on motor and respiratory function [11][12][13][14][15][16][17][18][19]. Feeding and nutritional difficulties have been reported in a few studies [18][19][20][21][22][23][24][25][26][27][28][29][30] and were invariably found in patients with type 1 SMA. Less has been reported in type 2 patients, with a limited number of studies showing heterogeneous results [20][21][22][23][24][25][26][27][28][29][30][31].…”

Section: Introductionmentioning

confidence: 99%

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Body mass index in type 2 spinal muscular atrophy: a longitudinal study

et al. 2022

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The aim of this retrospective study was to review body mass index (BMI) in a large cohort of Italian pediatric type 2 spinal muscular atrophy (SMA) patients, aged between 0 and 20 years and to establish possible differences in relation to a number of variables such as ventilation, motor function, and survival motor neuron 2 gene copies. Cross-sectional data were collected from 102 patients for a total of 344 visits. Standard growth charts for height and weight were used as reference, with age adjusted BMI calculated using the Center for Disease and Prevention Children’s BMI Tool. In the 344 visits, weight ranged between 3.90 and 83 kg, and the BMI between 8.4 and 31.6 with a BMI/age z-scores < − 2SD present in 28% and BMI/age z-scores > + 2SD in 9% of the measurements. The BMI/age z-scores were relatively stable < 5 years of age with an increasing number of patients < − 2SD after the age of 5, and a wider range of BMI/age z-scores after the age of 13. A difference on the BMI/age z-scores was found among the different age subgroups (< 5, 5–12, ≥ 13 years). A multivariate analysis in 58 patients with longitudinal assessments showed that baseline BMI/age z-scores and gender were significantly contributing to the changes while other variables were not.Conclusion: Our results confirm that careful surveillance of weight and BMI/age z-scores is needed in type 2 SMA. Further studies, including assessments of chewing and swallowing and of lean/fat body mass, will help to better understand the possible mechanisms underlying weight issues. What is Known:• Feeding difficulties have been reported in a few studies and were invariably found in patients with type 1 SMA.• Type 2 SMA patients often have low BMI with a relevant number of patients requiring tube feeding. What is New:• Reduction in BMI/age z-score overtime appeared to depend on baseline BMI/age z-score and gender.• Patients with a low BMI/age z-score were at higher risk of developing further reduction.

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Section: Introductionmentioning

confidence: 99%

“…Type 2 SMA patients often have low BMI with a relevant number of patients requiring tube feeding [31,32]. A recent paper reporting questionnaires in two cohorts from different countries suggest that some variability is present and this may be partly due to different cultural backgrounds [30].…”

Section: Introductionmentioning

confidence: 99%

Body mass index in type 2 spinal muscular atrophy: a longitudinal study

et al. 2022

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“…Of 100 patients included in the analysis with a mean age for therapeutic dosing was 2.9 months, 99 experienced at least 1 adverse event after dosing. The most frequently reported events included pyrexia (50), vomiting (42), hepatic enzyme increased (24), elevated AST (23), elevated ALT (19), elevated liver function (17), decreased platelet count (16), elevated troponin (7), thrombocytopenia (7), cough (7), nasopharyngitis (7), and weight loss (6). Forty-eight patients experienced serious adverse events, of which 11 were considered by the investigator to have been related to onasemnogene abeparvovec.…”

Section: Safety Of Onasemnogene Abeparvovecmentioning

confidence: 99%

“…In younger patients with more severe and acute SMA, failure to thrive is frequent, whereas in older patients there is an increased risk of obesity-associated with limited mobility. SMA patients often require gastrostomy due to feeding problems resulting from impaired swallowing and gastroesophageal dysmotility ( 5 , 6 ). Sleep disorders and excessive sweating are also common comorbidities ( 7 ).…”

Section: Spinal Muscular Atrophy: Symptoms Genetics Types Diagnosis and Natural Historymentioning

confidence: 99%

Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy

2021

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Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by deletion or mutation of the SMN1 gene. It is characterized by a progressive loss of motor neurons resulting in muscle weakness. The disease affects 1 in 11,000 live births and before the era of treatment SMA was a leading genetic cause of mortality in infants. Recently, disease modifying therapies have been introduced in clinical practice. They include intrathecal and oral antisense oligonucleotides binding to pre-mRNA of SMN2 gene and increasing the translation of fully functional SMN protein as well as SMN1 gene replacement therapy. Onasemnogene abeparvovec uses the adeno-associated virus 9 (AAV9) vector to deliver the SMN1 gene. Phase 1 and phase 3 clinical trials showed that a single administration of onasemnogene abeparvovec resulted in improvement of motor functions in the majority of infants with SMA. Currently, phase 3 trials in SMA1 and SMA2 patients, as well as presymptomatic infants diagnosed with SMA, are ongoing. The drug was approved for medical use in the US in 2019, and in Japan and the European Union in 2020. Thus, first real-world data on efficacy and safety of onasemnogene abeparvovec in SMA patients are available.

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“…Gastrostomi yerleştirilen hastaların %96'sında komplikasyon görülmemiş ve bu hastaların %66'sına Nissen fundoplikasyonu yapılmamıştır. Gastrostomiden sonra hastaların %80'inde göğüs enfeksiyonları ve %84'ünde beslenme durumunun iyileşme gösterdiği bildirilmiştir (42). Çalışmalarda görüldüğü gibi SMA hastalarının beslenmesinin sağlanmasında enteral beslenme büyük önem taşımaktadır.…”

Section: Beslenme Yolunun Seçimiunclassified

Spinal Musküler Atrofi (SMA) ve Tıbbi Beslenme Tedavisi

Muslu¹

2021

jarhs

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Spinal musküler atrofi hastalığı dört farklı tipi bulunan nöromusküler bir hastalıktır. Hastalığın tedavisinde ilaç ve gen tedavisi gibi yöntemler kullanılmakla beraber kanıtlanmış net bir tedavi bulunmamaktadır. Tedavi genel olarak hastalığın semptomlarını kontrol altına almaya dayanmaktadır. Beslenme sorunlarının başında yutma güçlüğü, gastroözofageal reflü ve gastrointestinal disfonksiyon gelmektedir. Hastalık tiplerine göre değişen bu sorunlar hastanın büyüme ve gelişimini olumsuz etkilediği gibi diğer semptomları tetikleyerek hastanın yaşam kalitesini düşürmektedir. Beslenme sorunlarının önlenmesi ve hastalığın yönetimi için hastanın semptomlarına göre bireyselleştirilmiş tıbbi beslenme tedavisi büyük önem taşımaktadır. Bu tedavi, multidisipliner bir ekip tarafından hazırlanmakta ve uzman diyetisyenler tarafından takip edilmektedir. Tıbbi beslenme tedavisi yönetimi detaylı anamnez alımı, antropometrik, kimyasal ve laboratuvar bulgularının değerlendirilmesi, enerji ve besin ögeleri gereksinimlerinin hesaplanması, uygun beslenme yolunun seçilip uygulanması, yakından takip ve değerlendirme şeklinde yapılmaktadır. Bu süreçte hastanın enerji gereksinimi hesaplanırken hastalar için geliştirilmiş özel formüllerin kullanılması önerilmektedir. Hastalarda uygulanabilecek diyet çeşitleri ve diyetin içeriği üzerine yapılmış çalışmalar oldukça sınırlıdır. Tıbbi beslenme tedavisinde temel yaklaşım diyetisyen tarafından yakın takip ile antropometrik ve biyokimyasal bulgulara dayanarak diyetinin düzenlenmesi ve kontrolüne dayanmaktadır. Hastalarda optimal beslenmenin gerekliliklerinin belirlenebilmesi için acil olarak iyi planlanmış ileri çalışmalara ihtiyaç duyulmaktadır.

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Feeding difficulties in children and adolescents with spinal muscular atrophy type 2

Cited by 16 publications

References 52 publications

Body mass index in type 2 spinal muscular atrophy: a longitudinal study

Body mass index in type 2 spinal muscular atrophy: a longitudinal study

Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy

Spinal Musküler Atrofi (SMA) ve Tıbbi Beslenme Tedavisi

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