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

Foppiani, Andrea; Amicis, Ramona De; Ravella, Simone; Bedogni, Giorgio; Battezzati, Alberto; D’Amico, Adele; Bertini, E.; Pedemonte, Marina; Bruno, Claudio; Agosto, Caterina; Mastella, Chiara; Giaquinto, E.; Masson, Riccardo; Baranello, Giovanni; Bertoli, Simona

doi:10.1016/j.clnu.2021.02.026

Cited by 5 publications

(4 citation statements)

References 33 publications

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“…Our findings confirm that BMI references based on the general pediatric population are not good indicators of the nutritional status in SMA children as they show a growth pattern which is specific to the condition. This is further supported by previous studies by us and others showing that fat mass is increased, and total fat-free mass and lean mass decreased in both SMA1 and SMA2 compared to healthy peers, with fat mass increasing with age [ 10 , 12 , 13 , 25 – 27 ]. Furthermore, we have also shown that body composition mildly to moderately correlates with motor function depending on the clinical phenotype [ 10 ].…”

Section: Discussionsupporting

confidence: 89%

“…To date, few studies have investigated the nutritional aspects in SMA [ 8 , 13 , 24 – 27 ], all of them being on small samples and few using a standardized protocol to assess growth pattern [ 28 ]. When compared to WHO percentiles, the present study confirms that in SMA1 weight is significantly lower than healthy peers in both sexes and at all ages, as consistently reported in previous studies [ 8 , 13 ].…”

Section: Discussionmentioning

confidence: 99%

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Growth patterns in children with spinal muscular atrophy

Amicis

Baranello

Foppiani

et al. 2021

Orphanet J Rare Dis

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Background Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle atrophy and weakness. SMA type 1 (SMA1) is the most severe form: affected infants are unable to sit unaided; SMA type 2 (SMA2) children can sit, but are not able to walk independently. The Standards of Care has improved quality of life and the increasing availability of disease-modifying treatments is progressively changing the natural history; so, the clinical assessment of nutritional status has become even more crucial. Aims of this multicenter study were to present the growth pattern of treatment-naïve SMA1 and SMA2, and to compare it with the general growth standards. Results Body Weight (BW, kg) and Supine Length (SL, cm) were collected using a published standardized procedure. SMA-specific growth percentiles curves were developed and compared to the WHO reference data. We recruited 133 SMA1 and 82 SMA2 (48.8% females). Mean ages were 0.6 (0.4–1.6) and 4.1 (2.1–6.7) years, respectively. We present here a set of disease-specific percentiles curves of BW, SL, and BMI-for-age for girls and boys with SMA1 and SMA2. These curves show that BW is significantly lower in SMA than healthy peers, while SL is more variable. BMI is also typically lower in both sexes and at all ages. Conclusions These data on treatment-naïve patients point toward a better understanding of growth in SMA and could be useful to improve the clinical management and to assess the efficacy of the available and forthcoming therapies not only on motor function, but also on growth.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Growth patterns in children with spinal muscular atrophy

Amicis

Baranello

Foppiani

et al. 2021

Orphanet J Rare Dis

Self Cite

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“…It is of note that in a number of assessments the BMI/ age z-score was between − 2 and − 3SD. These findings however were calculated on standard growth charts that may be not entirely appropriate for SMA patients in whom the poor weight may be related to the poor representation of muscles and lean mass [48,52]. While lower BMI are undoubtedly related to poor weight gain, values between − 2 and − 3SD should be further assessed with techniques exploring fat mass/fat free mass ratio (DXA, BIA) or using plicometry.…”

Section: Discussionmentioning

confidence: 99%

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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“…Finally, a new equation for FM prediction in SMA1 patients has been developed by Foppiani et al, considering that weight and body mass index are misleading biomarkers in these patients [ 29 , 40 ]. This study, which included 152 patients with SMA1, provides to the clinicians a new useful tool in order to precisely define body composition among these children.…”

Section: Nutritional Aspects: Critical Issues and Possible Solutionsmentioning

confidence: 99%

Nutritional, Gastrointestinal and Endo-Metabolic Challenges in the Management of Children with Spinal Muscular Atrophy Type 1

et al. 2021

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The management of patients with spinal muscular atrophy type 1 (SMA1) is constantly evolving. In just a few decades, the medical approach has switched from an exclusively palliative therapy to a targeted therapy, transforming the natural history of the disease, improving survival time and quality of life and creating new challenges and goals. Many nutritional problems, gastrointestinal disorders and metabolic and endocrine alterations are commonly identified in patients affected by SMA1 during childhood and adolescence. For this reason, a proper pediatric multidisciplinary approach is then required in the clinical care of these patients, with a specific focus on the prevention of most common complications. The purpose of this narrative review is to provide the clinician with a practical and usable tool about SMA1 patients care, through a comprehensive insight into the nutritional, gastroenterological, metabolic and endocrine management of SMA1. Considering the possible horizons opened thanks to new therapeutic frontiers, a nutritional and endo-metabolic surveillance is a crucial element to be considered for a proper clinical care of these patients.

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

Cited by 5 publications

References 33 publications

Growth patterns in children with spinal muscular atrophy

Growth patterns in children with spinal muscular atrophy

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

Nutritional, Gastrointestinal and Endo-Metabolic Challenges in the Management of Children with Spinal Muscular Atrophy Type 1

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