Nutrition outcomes of disease modifying therapies in spinal muscular atrophy: A systematic review.

The nutritional implications of spinal muscular atrophy (SMA) are profound. Disease modifying therapies (DMT) have improved clinical outcomes. This review describes the impact of DMT on nutrition outcomes. A systematic search strategy was applied across seven databases until May 2023. Eligible studies measured nutrition outcomes in individuals with SMA on DMT (nusinersen, risdiplam or onasemnogene abeparvovec [OA]) compared to untreated comparators. Nutrition outcomes included anthropometry, feeding route, swallowing dysfunction, dietary intake, dietetic intervention, nutritional biochemistry, metabolism, gastrointestinal issues and energy expenditure. Articles retrieved were screened in duplicate, data were extracted and appraised systematically. Sixty three articles from 54 studies were included; 41% (n = 22) investigated nusinersen in pediatric participants with SMA type 1. Anthropometry (n = 18), feeding route (n = 39), and swallowing dysfunction (n = 18) were the most commonly reported outcomes. In combined pediatric and adult cohorts, BMI z-score remained stable post nusinersen therapy. The proportion of children with SMA requiring enteral nutrition was stable post nusinersen therapy. Ability to thrive at age 1.5 years was higher in children treated in early infancy with OA compared to historical controls. Significant heterogeneity existed across study population characteristics and outcome measures. Nusinersen may prevent deterioration in some nutrition outcomes; and OA in early infancy may be associated with improved nutrition outcomes. Timing of DMT initiation is an important consideration for future nutrition research. Studies investigating nutrition as a primary outcome of DMT, using consistent outcome measures are required for nutritional management strategies for this cohort to be appropriately tailored.

Pilot study of a virtual weight management program for Duchenne muscular dystrophy.

INTRODUCTION/AIMS: Young people with Duchenne muscular dystrophy (DMD) are at increased risk of obesity. Weight management is important to families; however, several barriers exist. This pilot study aimed to investigate the feasibility and acceptability of a co-designed weight management program for DMD. METHODS: The Supporting Nutrition and Optimizing Wellbeing Program (SNOW-P) was a single-arm diet and behavior weight management intervention delivered via weekly telehealth/phone visits over 6 weeks to young people with DMD and obesity (body mass index (BMI) ≥95th percentile) and their caregivers. Using an online survey, caregivers of boys with DMD were consulted on the structure and topics delivered in SNOW-P. Primary outcomes were feasibility and acceptability; secondary outcomes were weight, physical function, and quality of life at 6- and 12-weeks follow-up. RESULTS: Of nineteen eligible participants, eight were enrolled (median age 11.4 years, range 4.9-15.8), and seven completed the program. Visit attendance was high (88%-100%); most participants reported high satisfaction and that participation was easy. Suggested changes included online and visual DMD-specific resources. At 6-weeks, median change in weight z-scores was -0.01 (IQR: -0.23, 0.17) indicating that on average, weight gain tracked as expected for age. Waist circumference measured by caregivers lacked accuracy and the completion rate of caregiver-reported secondary outcome measures (e.g., food diaries) was low. DISCUSSION: A co-designed, telehealth/phone weight management program appeared to be feasible and acceptable in a small group of boys with DMD. An adapted, hybrid telehealth and face-to-face program is recommended for efficacy testing.

Exploring caregivers' attitudes and beliefs about nutrition and weight management for young people with Duchenne muscular dystrophy.

INTRODUCTION/AIMS: Obesity disproportionately affects children and adolescents with Duchenne muscular dystrophy (DMD) and with adverse consequences for disease progression. This study aims to: explore barriers, enablers, attitudes, and beliefs about nutrition and weight management; and to obtain caregiver preferences for the design of a weight management program for DMD. METHODS: We surveyed caregivers of young people with DMD from four Australian pediatric neuromuscular clinics. Survey questions were informed by the Theoretical Domains Framework and purposefully designed to explore barriers and enablers to food and weight management. Caregivers were asked to identify their preferred features in a weight management program for families living with DMD. RESULTS: Fifty-three caregivers completed the survey. Almost half (48%) perceived their son as above healthy weight. Consequences for those children were perceived to be self-consciousness (71%), a negative impact on self-esteem (64%) and movement (57%). Preventing weight gain was a common reason for providing healthy food and healthy eating was a high priority for families. Barriers to that intention included: time constraints, selective food preferences, and insufficient nutrition information. Caregivers preferred an intensive six-week weight management program addressing appetite management and screen time. DISCUSSION: Managing weight is an important issue for caregivers of sons with DMD; yet several barriers exist. Individualized 6 week programs are preferred by caregivers to improve weight management for DMD.

A scoping review of nutrition issues and management strategies in individuals with skeletal dysplasia.

PURPOSE: Skeletal dysplasia are heterogeneous conditions affecting the skeleton. Common nutrition issues include feeding difficulties, obesity, and metabolic complications. This systematic scoping review aimed to identify key nutrition issues, management strategies, and gaps in knowledge regarding nutrition in skeletal dysplasia. METHODS: The databases Ovid MEDLINE, Ovid EMBASE, Ebsco CINAHL, Scopus, and Cochrane Central Register of Controlled Trials and Database of Systematic Reviews were searched. Reference lists and citing literature for included studies were searched. Eligible studies included participants with skeletal dysplasia and described: anthropometry, body composition, nutrition-related biochemistry, clinical issues, dietary intake, measured energy or nutrition requirements, or nutrition interventions. RESULTS: The literature search identified 8509 references from which 138 studies were included (130 observational, 3 intervention, 2 systematic reviews, and 3 clinical guidelines). Across 17 diagnoses identified, most studies described osteogenesis imperfecta (n = 50) and achondroplasia or hypochondroplasia (n = 47). Nutrition-related clinical issues, biochemistry, obesity, and metabolic complications were most commonly reported, and few studies measured energy requirements (n = 5). CONCLUSION: Nutrition-related comorbidities are documented in skeletal dysplasia; yet, evidence to guide management is scarce. Evidence describing nutrition in rarer skeletal dysplasia conditions is lacking. Advances in skeletal dysplasia nutrition knowledge is needed to optimize broader health outcomes.

Fracture risk and impact in boys with Duchenne muscular dystrophy: A retrospective cohort study.

INTRODUCTION/AIMS: Boys with Duchenne muscular dystrophy (DMD) are at increased risk of fracture. This study investigated the incidence of fractures, factors contributing to risk of first fracture with emphasis on body mass index (BMI), and the impact of fractures on functional capacity in an Australian cohort of boys with DMD. METHODS: A retrospective cohort study included boys with DMD who attended a pediatric neuromuscular clinic from 2011 to 2018. Information regarding fractures, anthropometry measurements, body composition and functional assessment was collected. Factors associated with first fracture risk were analyzed with Cox-proportional hazards. Longitudinal analysis of function post-fracture was also conducted. RESULTS: This study included 155 boys with DMD. At least one fracture occurred in 71 (45%) boys; overall incidence of fractures was 399-per-10,000 persons-years. The first fracture was vertebral in 55%; 41% had non-vertebral fractures and 4% had both. Vertebral fractures occurred in significantly older (12.28 vs 9.28 y) boys with longer exposure to glucocorticoids (5.45 vs 2.50 y) compared to non-vertebral fractures. Boys with a history of fracture(s) had a steeper rate of functional decline (measured by Northstar Ambulatory Assessment score) than those with no recorded fractures. DISCUSSION: A high fracture burden was observed in a large Australian cohort of boys with DMD. Further investigation is required to understand preventative strategies and modifiable risk factors to reduce the incidence of fractures in DMD. The impact on fractures on ambulatory capacity should be closely monitored.

The association between dietary factors and body weight and composition in boys with Duchenne muscular dystrophy.

BACKGROUND: Duchenne muscular dystrophy (DMD) is a X-linked neuromuscular disorder. Boys with DMD have high rates of obesity, although little is known about dietary factors that may contribute to weight gain in this population. The present study aimed to explore the relationship between dietary factors, body mass index (BMI) z-score, body composition and motor function and to describe dietary intake in boys with DMD. METHODS: A cross-sectional analysis of 3-day food diaries from ambulant and steroid treated boys with DMD aged 5-13 years was conducted. Correlation analysis explored the relationship between dietary factors, BMI z-score, fat mass percentage (FM%) and lean mass percentage (LM%). RESULTS: The median age was 8.5 years (interquartile range [IQR] = 7.2-10.5 years). Median energy kg-1  day-1 in those within a healthy weight range (n = 11) was 316 kJ kg-1  day-1 (IQR = 276-355 kJ kg-1  day-1 ) and greater than estimated requirements and, for those above a healthy weight (n = 26), energy intake was 185 kJ kg-1  day-1 (IQR = 143-214 kJ kg-1  day-1 ) and lower than estimated requirements. Energy kg-1  day-1 was negatively associated with BMI z-score (r = -0. 650) and FM% (r = -0.817) but positively associated with LM% (r = 0.805; all analyses p = <0.01). Younger age was associated (r = -0.609 p = <0.01) with a higher energy kg-1  day-1 . For all participants, vegetable, grains, meat/alternatives and dairy intakes were sub-optimal. CONCLUSIONS: Younger boys with DMD within a healthy weight range are overconsuming energy dense nutrient poor foods. A focus on improving diet quality during early childhood may prove to be a useful strategy for reducing excess weight gain and supporting healthier eating habits in this vulnerable clinical population.

The relative price of healthy and less healthy foods available in Australian school canteens.

School canteens have an important role in modelling a healthy food environment. Price is a strong predictor of food and beverage choice. This study compared the relative price of healthy and less healthy lunch and snack items sold within Australian school canteens. A convenience sample of online canteen menus from five Australian states were selected (100 primary and 100 secondary schools). State-specific canteen guidelines were used to classify menu items into 'green' (eat most), 'amber' (select carefully) and 'red' (not recommended in schools). The price of the cheapest 'healthy' lunch (vegetable-based 'green') and snack ('green' fruit) item was compared to the cheapest 'less healthy' ('amber/red') lunch and snack item, respectively, using an un-paired t-test. The relative price of the 'healthy' items and the 'less healthy' items was calculated to determine the proportion of schools that sold the 'less healthy' item cheaper. The mean cost of the 'healthy' lunch items was greater than the 'less healthy' lunch items for both primary (AUD $0.70 greater) and secondary schools ($0.50 greater; p < 0.01). For 75% of primary and 57% of secondary schools, the selected 'less healthy' lunch item was cheaper than the 'healthy' lunch item. For 41% of primary and 48% of secondary schools, the selected 'less healthy' snack was cheaper than the 'healthy' snack. These proportions were greatest for primary schools located in more, compared to less, disadvantaged areas. The relative price of foods sold within Australian school canteens appears to favour less healthy foods. School canteen healthy food policies should consider the price of foods sold.

The effect of sugar-sweetened beverage front-of-pack labels on drink selection, health knowledge and awareness: An online randomised controlled trial.

PURPOSE AND AIM: Sugar-sweetened beverages (SSBs) provide little nutritional value and are associated with an increased risk of diet-related diseases. Despite this, SSB consumption is high globally. One emerging strategy aimed at reducing SSB consumption involves the use of front-of-pack (FOP) labels that clearly identify the risks associated with SSB consumption. The aim of this research study was to determine whether FOP labels with a graphic warning, text warning, sugar information (with the number of teaspoons of added sugar) or Health Star Rating (HSR) reduces intended choice of a SSB in an online choice experiment with young Australian adults. RESULTS: 994 participants were recruited and completed the online choice experiment. Compared to the control group who were not exposed to a label, the graphic warning, text warning, sugar information and HSR labels all significantly reduced selection of a SSB in the choice scenario. The magnitude of effect was greatest for the graphic warning label (OR 0.22 95% CI 0.14-0.35). Compared to the control group, only the HSR label significantly increased selections of the high HSR drinks (OR 2.18 95% CI 1.20-3.97). CONCLUSIONS: FOP labels, particularly those with graphic warnings, have the potential to reduce intended SSB purchases. Labels that also identify healthier alternatives may influence consumers to substitute SSBs with healthier drinks.

A scoping review of Australian nutrition resources for feeding children under 5 years of age.

INTRODUCTION: This review identified and appraised Australian open-access online resources relating to feeding and nutrition during the first 5 years of life. METHODS: Eligible resources were identified by hand searching plus a targeted search of pertinent source websites (government, hospitals and health services, peak bodies, and nutrition organisations) published in English with/without translations to other languages between 2012 and 2022. Search terms relating to the population (children) AND topic (nutrition OR feeding) were entered into Google and Bing. Critical appraisal of each resource was conducted using a modified version of the Centres for Disease Control and Prevention Clear Communication Index. RESULTS: The search identified 1327 nutrition resources, of which 1067 were appraised. Forty-five percent were paper-based resources, 47% were online content only, and 8% audio-visual resources. Almost half of the resources (45%) broadly addressed the 0-5 years age range, and 24% provided information on breast or formula feeding. Limited resources were found specifically addressing growth and development (5%) and introducing solids (8%). Only 10% of resources were culturally tailored and only 3% were translated into a language other than English. Appraisal showed the majority included visual cues and appropriate language, but less included images to support the main message of the resource. DISCUSSION: Although there were a large volume of evidence-based nutrition resources available in Australia for feeding children under 5 years, they were highly dispersed and of varying quality. Collating and presenting these resources in an open-access resource hub would empower families and education and health professionals in the nutritional care of young children.