Background and aimsChildren with spinal muscular atrophy (SMA) have a high rate of dyslipidaemia, which is a risk factor of vital importance for cardiovascular diseases in adulthood. Studies have demonstrated that the serum zinc level is associated with lipid profiles in the general population as well as in individuals diagnosed with obesity or diabetes. The purpose of this study was to evaluate the relationship between serum zinc level and lipid profiles in children with SMA.MethodsThis cross-sectional study was launched in a tertiary children's medical center in China and involved pediatric patients with SMA under the management of a multidisciplinary team of outpatient services from July 2019 to July 2021. Anthropometric information, general clinical data, serum zinc level, lipid profiles, and body composition data were collected. Multivariate analysis was used for a thorough inquiry on the association between the serum zinc level and lipid profiles.ResultsAmong the 112 patients with SMA [median (IQR) age 5.54 years (2.75–8.29), 58.04% female], who fulfilled the inclusion criteria of the study, dyslipidaemia was detected in 60 patients (53.57%). Based on multivariable linear regression, serum zinc level was positively associated with high-density lipoprotein cholesterol (HDL-C; β = 1.63, 95% CI = 0.44–3.22) and apolipoprotein A1 (APO A1; β = 2.94, 95% CI = 0.03–5.85) levels, independently of age, sex, type, activity, percentage of body fat, and body mass index. As the serum zinc level increased by 10 μmol/L, the risk of low APO A1 levels decreased by 35% (OR = 0.65, 95% CI = 0.44–0.97) according to multivariable logistic regression analyses.ConclusionSerum zinc concentration was positively correlated with HDL-C and APO A1 levels among children with SMA. We suggest measures to correct the lower level of serum zinc to improve HDL-C and APO A1 levels.
Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are two common kinds of neuromuscular disorders sharing various similarities in clinical manifestations. SMA is an autosomal recessive genetic disorder that results from biallelic mutations of the survival motor neuron 1 gene (SMN1; OMIM 600354) on the 5q13 chromosome. DMD is an X-linked disorder caused by defects in the DMD gene (OMIM 300377) on the X chromosome. Here, for the first time, we report a case from a Chinese family who present with clinical manifestations of both two diseases, including poor motor development and progressive muscle weakness. We identified a homozygous deletion in exons 7 and 8 of the SMN1 gene and a deletion in exon 50 of the DMD gene by whole-exome sequencing (WES) and multiplex ligation-dependent probe amplification (MLPA). This case expands our understanding of diagnosis for synchronous SMA and DMD and highlights the importance of various genetic testing methods, including WES, in differential diagnosis of neuromuscular diseases.
BackgroundBody composition analysis is a valuable tool for assessing and monitoring the nutritional status of children with spinal muscular atrophy (SMA). This study was designed to compare the consistency of bioelectrical impedance analysis (BIA) and dual-energy X-ray absorptiometry (DXA), as the gold standard method for assessing body composition in clinical practice when treating children with type II and III SMA.MethodsFrom 2019 to 2021, we performed a retrospective analysis of body composition by DXA and BIA measurement methods in patients with type II and III SMA treated at a Chinese tertiary children's hospital. Fat mass (FM), muscle mass (MM), bone mineral content (BMC), and visceral fat area (VFA) were compared using paired sample t-tests. We calculated Lin's concordance correlation coefficient (CCC) and Spearman correlation coefficient to verify the correlation between DXA and BIA measurements. Bland–Altman analysis was used to assess the consistency of the two methods.ResultsFifty-seven children with type II and III SMA were recruited. Compared with body composition measured by DXA, the average FM measured by BIA is significantly lower (P <0.001), whereas the average MM, BMC, and VFA measured by BIA are significantly higher (P < 0.001) in children with SMA. Overall, the difference between MM (Delta [BIA-DAX] = 1.6 kg) and FM (Delta [BIA-DAX] = −1.6 kg) measured by DXA and BIA was minor, whereas the difference of VFA (Delta [BIA-DAX] = −43.5 cm) was significantly large. Correlation analysis indicated a substantial correlation of MM (CCC = 0.96 [95% confidence interval (CI) = 0.93–0.98], r = 0.967 [P < 0.0001]) and FM (CCC = 0.95 [95% CI = 0.92–0.97], r = 0.953 [P < 0.0001]), and poor correlation of BMC (CCC = 0.61 [95% CI = 0.42–0.75], r = 0.612 [P < 0.0001]) and VFA (CCC = 0.54 [95% CI = 0.33–0.70], r = 0.689 [P < 0.0001]) measurements between the two methods. The Bland–Altman analysis suggests that the majority of participants were within LOA. In addition, differences in MM and VFA measurements between BIA and DAX increased according to patients' increasing height, whereas differences in FM and BMC did not differ with height.ConclusionBIA overestimates MM and underestimates the FM, BMC, and VFA in children with SMA compared with DXA measurements. Overall, the non-invasive, easy-to-use, and repeatable BIA measurements were found to be in good agreement with DXA measurements, especially for FM and MM, which are essential parameters for the nutritional evaluation of children with SMA.
Background: Spinal muscular atrophy (SMA) is a rare neurogenetic disease which involves multisystem dysfunctions such as respiratory, digestive, and motor disorders. Anxiety, depression and other psychological disorders often accompany severe chronic physical diseases. The aim of this study was to investigate the prevalence of anxiety and depression along with their influencing factors among school-age patients with SMA.Methods: We conducted a cross-sectional study on school-age SMA patients in China. Patients aged 8–18 years with a genetic diagnosis of 5qSMA were invited to answer a questionnaire composed of sociodemographic and clinical questions, then to complete the Screen for Child Anxiety-Related Emotional Disorders and Depression Self-Rating Scale for depression and anxiety level evaluation. At the end of the questionnaire, further questions assessed the subjective anxiety and subjective depression of patients’ caregivers and their expectations for their child’s future. Results: Complete data were available for 155 patients. The sample included 45.8% boys and 54.2% girls; 65.2% were type II, 27.1% were type III, and the remainder were type I SMA. Rates of anxiety and depression in these school-age SMA patients were 40.0% and 25.2%, respectively. Gender, age, and disease type were not associated with anxiety or depression, but respiratory system dysfunction, digestive system dysfunction, skeletal deformity, rehabilitation exercise, academic delay, specialized support from school, household income level, caregivers’ subjective anxiety, and caregivers’ expectations were significantly related to both anxiety and depression. Conclusions: There was a high prevalence of anxiety and depression in school-age SMA patients in China. Professional psychological care maybe included in the standard of care. These results also call for possible targets for intervention such as reducing complications, improving drug accessibility, retaining normal schooling, strengthening school support, and enhancing the ability of the caregivers of SMA patients to assist in the diagnosis and treatment of the disease, so improving the mental health of SMA patients.
Background Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disease affecting multiple organs and systems, including nutritional and metabolic status. There is still a lack of relevant large sample size research. We aimed to investigate the nutritional status, serum lipid profile, and body composition characteristics in children with SMA. Methods A hospital-based, case-control study was conducted on 91 children with SMA (17.6% of type I, 48.4% of type II, 34.1% of type III) and 91 age- and gender-matched healthy children in a single hospitalized center in China. Anthropometric information, serum lipids parameters and body composition (in subgroup of patients older than 3 years) were collected. According to the anthropometric Z scores, nutritional status was categorized into normal and malnutrition (including under- and over-nutrition) groups. Results The prevalence of malnutrition and dyslipidemia in children with SMA was higher than that of controls (49.45% vs. 23.08% and 56.04% vs. 34.07%, respectively and p<0.01). Particularly, the prevalence of lower-than-normal levels of high density lipoprotein (HDL) and apolipoprotein A1 (Apo A1) were significantly higher than that in healthy controls in children with SMA (26.37% vs. 7.69% and 41.76% vs. 6.59%, respectively and p<0.01). In terms of the body composition characteristics in children with SMA II & III, on average, the total body fat mass percentage (FM%) was 43.38% (36.99%, 48.20%), the fat mass index (FMI) was 7.30 (5.07, 8.72), the lean body mass index (LBMI) was 7.70 (6.96, 9.02) and the bone mineral density-z score (BMD-z) was -1.40 (-2.80, -0.60), generally different from the reference profiles in published literature. Conclusion Children with SMA in China have obvious nutritional imbalances, abnormal levels of serum lipid and unbalanced body composition. Further research is warranted to explore the potential mechanisms and health management strategies on nutritional and metabolic disorders of SMA.
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