Nutritional Status and Nutrient Intake Challenges in Children With Spinal Muscular Atrophy

Mehta, Nilesh M.; Newman, Haley; Tarrant, Stacey; Graham, Robert J.

doi:10.1016/j.pediatrneurol.2015.12.015

Cited by 39 publications

(47 citation statements)

References 12 publications

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“…Despite this, optimal nutritional guidelines for SMA patients are still lacking. Currently, many SMA patients are either malnourished, underfed, or overfed . Over the years, many SMA families have adopted the “amino acid diet.” This diet was developed purely based on observations and experiences of caregivers, and consists of reduced fat intake consumption (10–20%) and elemental free amino acid formula amongst other components.…”

Section: Discussionmentioning

confidence: 99%

Low fat diets increase survival of a mouse model of spinal muscular atrophy

Deguise

Chehadé

Tierney

et al. 2019

Ann Clin Transl Neurol

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Spinal muscular atrophy (SMA) is a neuromuscular disorder leading to paralysis and death. Recent evidence shows increased susceptibility to dyslipidemia and liver steatosis in patients. Here, we provide evidence that low fat diets nearly double survival in Smn 2B/À mice, a model for SMA, independent of changes in SMN levels, liver steatosis, or enhanced hepatic functions. Liver damage and ketone levels were reduced, implying a lower reliance on fatty acid oxidation. This preclinical proof of concept study provides grounds for controlled clinical investigation of dietary needs and offers evidence to inform nutritional guidelines specific to SMA. 2340

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Section: Discussionmentioning

confidence: 99%

Low fat diets increase survival of a mouse model of spinal muscular atrophy

Deguise

Chehadé

Tierney

et al. 2019

Ann Clin Transl Neurol

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“…Mehta et al revealed a decline in both weight and BMI Z -scores across a three-year time period in 60 children aged 2–12 years old with spinal muscular atrophy [21]. A significant decline in BMI was noted in 47% of the patients, and the prevalence of severe malnutrition increased from 2% to 17% after a period of three years.…”

Section: Undernutritionmentioning

confidence: 99%

Nutritional Challenges in Duchenne Muscular Dystrophy

et al. 2017

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Neuromuscular diseases (NMDs) represent a heterogeneous group of acquired or inherited conditions. Nutritional complications are frequent in NMDs, but they are sometimes underestimated. With the prolongation of survival in patients with NMDs, there are several nutritional aspects that are important to consider, including the deleterious effects of overnutrition on glucose metabolism, mobility, and respiratory and cardiologic functions; the impact of hyponutrition on muscle and ventilatory function; constipation and other gastrointestinal complications; chewing/swallowing difficulties with an increased risk of aspiration that predisposes to infectious diseases and respiratory complications; as well as osteoporosis with an associated increased risk of fractures. The aim of this review is to provide a comprehensive analysis of the nutritional aspects and complications that can start in children with Duchenne muscular dystrophy (DMD) and increase with ageing. These aspects should be considered in the transition from paediatric clinics to adult services. It is shown that appropriate nutritional care can help to improve the quality of life of DMD patients, and a multidisciplinary team is needed to support nutrition challenges in DMD patients. However, studies on the prevalence of overnutrition and undernutrition, gastrointestinal complications, infectious diseases, dysphagia, and reduced bone mass in the different types of NMDs are needed, and appropriate percentiles of weight, height, body mass index, and body composition appear to be extremely important to improve the management of patients with NMD.

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“…23 Los pacientes con AME I tienen riesgo de falla de medro secundaria a la dificultad y fatiga para deglutir, a la enfermedad por reflujo gastroesofágico y a microaspiraciones. 8 Como manifestación inicial, solo 3 de los 15 tuvieron falla de medro, pero durante la evolución, 9 de 15 tuvieron desnutrición asociada con infecciones respiratorias, hospitalizaciones, periodos de ayuno e ingesta insuficiente de energía y micronutrientes, 24 así como al proceso progresivo de amniotrofia. Esta cifra es superior a la reportada en la bibliografía.…”

Section: Discussionunclassified

Perfil demográfico y clínico de pacientes con atrofia muscular espinal: serie de 31 pacientes

Urrutia-Osorio

García

2020

Acta Pediatr Mex

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ANTECEDENTES: La atrofia muscular espinal es la principal causa de muerte por enfermedad genética en lactantes. Es un trastorno degenerativo de las neuronas del asta anterior de la médula espinal. Según la edad de presentación se clasifica en 5 tipos. Las manifestaciones clínicas son: debilidad, hipotonía, atrofia muscular y retraso psicomotor. OBJETIVO: Conocer las características clínicas de pacientes mexicanos con atrofia muscular espinal (AME) que permitan el reconocimiento oportuno de la patología y el inicio de medidas terapéuticas. PACIENTES Y MÉTODOS: Estudio retrospectivo, retrolectivo, observacional y descriptivo al que se incluyeron pacientes con diagnóstico clínico y/o molecular de atrofia muscular espinal.RESULTADOS: Se estudiaron 31 pacientes, 15 de ellos con atrofia muscular espinal I, 13 con AME II y 3 con AME III. Todos los pacientes iniciaron con debilidad muscular, hipotonía y retraso del desarrollo psicomotor. El diagnóstico se estableció a una edad promedio de 30.81 meses, mediana de 23, mínima 2 y máxima 108 meses. Se estableció el diagnóstico genético en 23 de los 31 pacientes. Los de la clasificación AME I fallecieron.CONCLUSIONES: La AME I es el tipo más frecuente. La debilidad severa y las infecciones de las vías respiratorias son los motivos de consulta más comunes. Las manifestaciones clínicas de la AME III son de inicio más tardío y son ortopédicas que generan discapacidad. Existe retraso en el diagnóstico de esta enfermedad y limitaciones importantes en México para el tratamiento y aplicación de la terapia modificadora, lo que limita la calidad de vida y pronóstico de los pacientes.

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Nutritional Status and Nutrient Intake Challenges in Children With Spinal Muscular Atrophy

Cited by 39 publications

References 12 publications

Low fat diets increase survival of a mouse model of spinal muscular atrophy

Low fat diets increase survival of a mouse model of spinal muscular atrophy

Nutritional Challenges in Duchenne Muscular Dystrophy

Perfil demográfico y clínico de pacientes con atrofia muscular espinal: serie de 31 pacientes

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