Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study.

BACKGROUND: Osteogenesis Imperfecta (OI) is a heterogeneous group of connective tissue disorders, characterized by varying degrees of skeletal fragility. Patients experience a range of comorbidities, such as obesity, cardiovascular, and gastrointestinal complications, especially in adulthood. All aspects that could benefit from dietary intervention. The aim of this study was to evaluate the effects of a 6-months restricted Mediterranean Diet (rMD) on nutritional status in adult patients affected by OI. We carried out a 6-months longitudinal pilot study. 14 adults (median age: 35 years; 7 women; 7 OI type III) where recruited in 2019 among the members of As.It.O.I., the Italian Association of Osteogenesis Imperfecta. As.It.O.I. All the evaluations were performed at the University of Milan, Italy. The rMD provided a reduction of 30% from daily total energy expenditure. 45% of calories derived from carbohydrates, 35% from fat and 0.7-1.0 g/kg of body weight from proteins. Comparisons of continuous variables after 6 months of intervention were performed by the paired t-test. All P-values were two-tailed, and p < 0.05 was considered significant. RESULTS: Patients showed significant improvement in anthropometric measurements (BMI = 30.5 vs 28.1 kg/cm2, p < 0.001; Body Fat % = 32.9 vs 29.9, p = 0.006; Waist circumferences = 83.6 vs 79.6 cm; p < 0.001; Arm Fat Area = 29.8 vs 23.07 cm2; p < 0.011) and energy expenditure (REE/kg = 27.2 vs 29.2 kcal/kg, p < 0.001). Glucose and lipid profiles improved (Δglycemia = - 8.6 ± 7.3 mg/dL, p = 0.003; ΔTC = - 14.6 ± 20.1 mg/dL, p = 0.036; ΔLDL = - 12.0 ± 12.1 mg/dL, p = 0.009). Adherence to the MD significantly increased, moving from a moderate to a strong adherence and reporting an increased consumption of white meat, legumes, fish, nuts, fruits and vegetables. CONCLUSION: A rMD was effective in improving nutritional status and dietary quality in adults with OI. These results underscores the need to raise awareness of nutrition as part of the multidisciplinary treatment of this disease.

Study protocol of a clinical randomized controlled trial on the efficacy of an innovative Digital thErapy to proMote wEighT loss in patients with obesity by incReasing their Adherence to treatment: the DEMETRA study.

Despite the increasing importance of innovative medications and bariatric surgery for the treatment of obesity, lifestyle interventions (diet and physical activity) remain the first-line therapy for this disease. The use of digital devices in healthcare aims to respond to the patient's needs, in order to make obesity treatment more accessible, so our study aims to assess the safety and efficacy of a Digital Therapy for Obesity App (DTxO) for achieving weight loss and its maintenance in patients affected with obesity undergoing an experimental non-pharmacological treatment. Here we present the study protocol of a prospective, multicenter, pragmatic, randomized, double-arm, placebo-controlled, parallel, single-blind study on obese patients who will be treated with a new digital therapy to obtain an improvement in their disease condition through the application of different simultaneous strategies (a dietary regimen and personalized advice program, a tailored physical exercise program, a cognitive-behavioural assessment and program, alerts and reminders, dedicated section on prescribed drugs intake, and chat and online visits with clinical professionals). We believe that DTxO will offer a promising intervention channel and self-regulation tool holding the potentiality to decrease treatment burden and treat more patients thanks to the partial replacement of traditional medical consultation with digital or telephone management, improving self- engagement and reducing the high demands the "obesity pandemic" for both patients and national health services in terms of time, cost, and effort. Clinical trial registration: clinicaltrials.gov, identifier, NCT05394779.

The Effect of the Mediterranean Diet on Metabolic Health.

The Mediterranean Diet (MedDiet) is one of the healthiest and most balanced dietary patterns worldwide [...].

Ultra-Processed Food Consumption and Incidence of Obesity and Cardiometabolic Risk Factors in Adults: A Systematic Review of Prospective Studies.

Ultra-processed foods (UPF) are energy-dense, nutritionally unbalanced products, low in fiber but high in saturated fat, salt, and sugar. Recently, UPF consumption has increased likewise the incidence of obesity and cardiometabolic diseases. To highlight a possible relationship, we conducted a systematic review of prospective studies from PubMed and Web of Science investigating the association between UPF consumption and the incidence of obesity and cardiometabolic risk factors. Seventeen studies were selected. Eight evaluated the incidence of general and abdominal obesity, one the incidence of impaired fasting blood glucose, four the incidence of diabetes, two the incidence of dyslipidemia, and only one the incidence of metabolic syndrome. Studies' quality was assessed according to the Critical Appraisal Checklist for cohort studies proposed by the Joanna Briggs Institute. Substantial agreement emerged among the studies in defining UPF consumption as being associated with the incident risk of general and abdominal obesity. More limited was the evidence on cardiometabolic risk. Nevertheless, most studies reported that UPF consumption as being associated with an increased risk of hypertension, diabetes, and dyslipidemia. In conclusion, evidence supports the existence of a relationship between UPF consumption and the incidence of obesity and cardiometabolic risk. However, further longitudinal studies considering diet quality and changes over time are needed.

Long-term follow-up of nutritional status in children with GLUT1 Deficiency Syndrome treated with classic ketogenic diet: a 5-year prospective study.

Introduction: The classic ketogenic diet (cKD) is an isocaloric, high fat, low-carbohydrate diet that induces the production of ketone bodies. High consumption of dietary fatty acids, particularly long-chain saturated fatty acids, could impair nutritional status and increase cardiovascular risk. The purpose of this study was to evaluate the long-term effects of a 5-year cKD on body composition, resting energy expenditure, and biochemical parameters in children affected by Glucose Transporter 1 Deficiency Syndrome (GLUT1DS). Methods: This was a prospective, multicenter, 5-year longitudinal study of children with GLUT1DS treated with a cKD. The primary outcome was to assess the change in nutritional status compared with pre-intervention, considering anthropometric measurements, body composition, resting energy expenditure, and biochemical parameters such as glucose and lipid profiles, liver enzymes, uric acid, creatinine, and ketonemia. Assessments were conducted at pre-intervention and every 12 months of cKD interventions. Results: Ketone bodies increased significantly in children and adolescents, and remained stable at 5 years, depending on the diet. No significant differences were reported in anthropometric and body composition standards, as well as in resting energy expenditure and biochemical parameters. Bone mineral density increased significantly over time according to increasing age. Body fat percentage significantly and gradually decreased in line with the increase in body weight and the consequent growth in lean mass. As expected, we observed a negative trend in respiratory quotient, while fasting insulin and insulin resistance were found to decrease significantly after cKD initiation. Conclusion: Long-term adherence to cKD showed a good safety profile on anthropometric measurements, body composition, resting energy expenditure, and biochemical parameters, and we found no evidence of potential adverse effects on the nutritional status of children and adolescents.

Acute Insulin Secretory Effects of a Classic Ketogenic Meal in Healthy Subjects: A Randomized Cross-Over Study.

The classic ketogenic diet (KD) is a high-fat, low-carbohydrate diet that mimics a starvation state with sufficient caloric intake to sustain growth and development. KD is an established treatment for several diseases, and it is currently evaluated in the management of insulin-resistant states, although insulin secretion after a classic ketogenic meal has never been investigated. We measured the insulin secretion to a ketogenic meal in 12 healthy subjects (50% females, age range 19-31 years, BMI range 19.7-24.7 kg/m2) after cross-over administrations of a Mediterranean meal and a ketogenic meal both satisfying ~40% of an individual's total energy requirement, in random order and separated by a 7-day washout period. Venous blood was sampled at baseline and at 10, 20, 30, 45, 60, 90, 120, and 180 min to measure glucose, insulin, and C-peptide concentrations. Insulin secretion was calculated from C-peptide deconvolution and normalized to the estimated body surface area. Glucose, insulin concentrations, and insulin secretory rate were markedly reduced after the ketogenic meal with respect to the Mediterranean meal: glucose AUC in the first OGTT hour -643 mg × dL-1 × min-1, 95% CI -1134, -152, p = 0.015; total insulin concentration -44,943 pmol/L, 95% CI -59,181, -3706, p < 0.001; peak rate of insulin secretion -535 pmol × min-1 × m-2, 95% CI -763, -308, p < 0.001. We have shown that a ketogenic meal is disposed of with only a minimal insulin secretory response compared to a Mediterranean meal. This finding may be of interest to patients with insulin resistance and or insulin secretory defects.

Nutritional status of children affected by X-linked adrenoleukodystrophy.

BACKGROUND: Adrenoleukodystrophy (ALD) is a rare X-linked metabolic disorder that causes the accumulation of very-long-chain fatty acids (VLCFAs) (C26:0) and the subsequent variety of clinical and neurological symptoms. Little is known about nutritional status and dietary habits of children affected by ALD, and so the present study aimed to assess nutritional status and food intake in children with ALD, also exploring the relationship between food intake and the consumption of disease-specific dietary supplements to reduce blood C26:0 concentrations and increase monounsaturated fatty acids (C26:1). METHODS: All patients underwent a clinical and neurological evaluation and a comprehensive nutritional assessment. The association of VLCFA concentrations with dietary lipids was assessed. RESULTS: Nine boys (11.49 ± 3.61 years) were enrolled in a cross-sectional study. All patients were normal weight, with normal resting energy expenditure. Only six of nine patients followed the low-fat diet and dietary supplements. An inverse association was found between the food intake of polyunsaturated lipids and C26:0; conversely, the C26:0 was positively associated with the dietary saturated lipids. When consumed, dietary supplement consumption correlated positively with C26:1 (ρ = 0.917, p = 0.029) and no correlation was found with C26:0 (ρ = 0.410, p = 0,493). CONCLUSIONS: No children were found to be malnourished or overweight or obese; however, half of the children reported excessive body fat, probably as a result of the pharmacotherapies. A low-fat diet could be adjuvant in the management of the accumulation of VLCFAs, but poor dietary compliance to disease-specific nutritional guidelines appears to be a major problem of this condition and underlines the need for a structured and personalised nutritional management in ALD disease.

The Impact of Nutrition on Cognitive Performance in a Frail Elderly Population Living in Northern Italy.

Objectives: There is increasing evidence for a protective role of nutritional factors on cognitive decline. Many studies have reported a preventive effect of specific dietary patterns, in particular of the Mediterranean diet (MD), on the risk of cognitive decline, but only limited evidence is available about its effects on neuropsychological performance. The aim of this work is to evaluate the relationship between nutrition and cognitive performance in a frail elderly population living in Northern Italy. Methods: In this study we have investigated the impact of the Mediterranean dietary pattern on cognitive performance in a frail elderly population (n = 140). Structural equation modeling was applied to highlight the interrelationship between three cognitive domains: i) Verbal Fluency; ii) Attention/executive function; iii) Memory, and two MD factors: i) Nutrition; ii) Anthropometric/physical activity. In addition, the Multiple Correspondence Analysis was performed to detect the food and nutrients with the highest association with MD and nutritional status. Results: In our sample, 54% of subjects have a medium-high adherence to MD and only 4% have a risk of malnutrition. The variable Nutrition was significantly associated (p < 0.001) with the cognitive domain Attention/executive function, with an increase in Nutrition directly associated with a better performance in Attention/executive function. Conclusions: This study provides preliminary evidence of an association between good nutritional status, related to a high adherence to the MD, and cognitive performance in a non-clinical elderly population living in Northern Italy.

The Environmental Impact of an Italian-Mediterranean Dietary Pattern Based on the EAT-Lancet Reference Diet (EAT-IT).

The definition of a healthy and sustainable diet is nowadays considered pivotal, but data related to environmental outcomes are still debated. In this study, we compared the carbon (CF) and water footprints (WF) of an Italian-Mediterranean (EAT-IT) dietary pattern designed on the "Planetary diet", with a pattern based on the Italian Dietary Guidelines (IDG). The influence of different food categories and food choices on environmental impact was assessed. To this aim, weekly dietary patterns were developed, considering food categories and related portions and frequencies of consumption. Results show that the EAT-IT dietary pattern, compared to the IDG, had a significantly lower CF (2.82 ± 1.07 and 3.74 ± 0.92 kg CO2/day, respectively) but not WF. Protein-rich foods were the main contributors to CF and WF in both dietary patterns. The increased substitution of frozen instead of fresh foods, imported instead of local fruits, greenhouse-grown instead of seasonal vegetables, and processed legume-based foods instead of unprocessed legumes caused an increasing worsening of the CF in both patterns, but with different magnitudes. Our analysis indicated that the EAT-IT dietary pattern can be considered sustainable for CF, but individual choices are likely to largely affect the final environmental outcomes.

Weight Loss Management and Lifestyle Changes during COVID-19 Lockdown: A Matched Italian Cohort Study.

During the COVID-19 lockdown, lifestyle deterioration had a negative impact on weight, and yet no study has focused on patients already undergoing dietary therapy. We performed a cohort study among adults to evaluate the effect of lockdown on weight loss programs, and we investigated changes in eating habits and chronotype. We matched confined cases with non-confined cases among individuals who followed the same diet in 2017-2019. At baseline, all patients underwent a clinical examination and completed questionnaires on lifestyle. At follow-up, patients of the confined group were interviewed by a web call, and questionnaires were re-evaluated. We recruited 61 patients. The confined sample was mainly composed of middle-aged (52 (43,58) years) females (46 (75%)) with overweight (27 (44%)) or obesity (24 (39%)) and a moderate physical activity level (48 (81%)). Body weight at follow-up was significantly higher (1.1 (95% CI: 0.14, 2.1) kg) in the confined group adjusting for all matching variables. Adherence to the Mediterranean diet and eating behavior generally improved. Concerning chronotype, patients differentiated from Neither-types to Evening- and Morning-types. A well-monitored dietary therapy maintains weight loss during lockdown. Improvement in eating habits was observed; however, a shift of the circadian typology occurred.

Systematic Review on the Potential Effect of Berry Intake in the Cognitive Functions of Healthy People.

The increase in life expectancy poses health challenges, such as increasing the impairment of cognitive functions. Berries show a neuroprotective effect thanks to flavonoids, able to reduce neuroinflammatory and to increase neuronal connections. The aim of this systematic review is to explore the impact of berries supplementation on cognitive function in healthy adults and the elderly. Twelve studies were included for a total of 399 participants, aged 18-81 years (mean age: 41.8 ± 4.7 years). Six studies involved young adults (23.9 ± 3.7 years), and four studies involved the elderly (60.6 ± 6.4 years). Most studies investigated effects of a single berry product, but one used a mixture of 4 berries. Non-significant differences were detected across cognition domains and methodologies, but significant and positive effects were found for all cognitive domains (attention and concentration, executive functioning, memory, motor skills and construction, and processing speed), and in most cases they were present in more than one study and detected using different methodologies. Although some limitations should be taken into account to explain these results, the positive findings across studies and methodologies elicit further studies on this topic, to endorse the consumption of berries in healthy populations to prevent cognitive decline.

Appetite ratings and ghrelin concentrations in young adults after administration of a balanced meal. Does sex matter?

BACKGROUND: Sex-based differences in appetite ratings have been observed previously. Ghrelin is the only known orexigenic peptide hormone. Sex differences in postprandial ghrelin responses may underlie different perceptions of hunger and satiety, but results are conflicting. We conducted a parallel study to evaluate sex differences in postprandial appetite ratings and ghrelin concentration after administration of a physiological meal among students of University of Milan. METHODS: Twenty-four healthy, normal weight volunteers (12 men and 12 women) aged 18-35 years were recruited. A balanced mixed meal meeting 40% of the estimated daily energy expenditure and providing 60% of calories from carbohydrates, 25% from lipids and 15% from protein was administrated. Sex differences in appetite ratings (satiety, hunger, fullness and desire to eat) and magnitude of ghrelin suppression during postprandial period (up to 180 min) were determined. RESULTS: In the fasting state, men and women did not differ in appetite ratings and ghrelin concentrations. After feeding, women tended to reach peak of satiety earlier than men, who in turn reached the nadir of hunger later than women (median: 30 min, interquartile range (IQR): 1; 120 vs. 1 min, IQR 1; 1, p = 0.007). Ghrelin suppression was greater in women (median decremental AUC - 95, IQR - 122; - 66) than in men (median decremental AUC - 47, IQR - 87; - 31, p = 0.041). CONCLUSIONS: These findings suggest sex differences in the postprandial appetite regulation that might be important for nutritional strategy to prevent and treat obesity and eating disorders.

Adherence to the Mediterranean Diet and Risk of Metabolically Unhealthy Obesity in Women: A Cross-Sectional Study.

Some obese individuals do not present any metabolic alteration and are considered metabolically healthy (MHO). Adherence to high-quality dietary pattern may favor this phenotype. We aimed to evaluate the association between the adherence to the Mediterranean diet and risk of metabolically unhealthy obesity (MUO) in women. We conducted a cross-sectional study on 2,115 obese women. All patients underwent a medical examination, anthropometric evaluation, bioelectrical impedance, ultrasound measurements of abdominal visceral (VAT) and subcutaneous (SAT) fat, blood sampling and evaluation of adherence to the Mediterranean diet through MEDAS questionnaire. The diagnosis of MHO and MUO was made using the harmonized criteria. A multivariable logistic regression adjusted for age, BMI, fat free mass, ultrasound-estimated VAT:SAT ratio, marital status, education, past diet, antidepressant use, family history of diabetes and cardiovascular disease, menopausal status, smoking, and physical activity was used to assess the association between Mediterranean diet and MUO risk. The prevalence of MHO was 21.2% (N = 449). Compared to MUO women, MHO women were younger, had lower BMI and VAT, and had higher fat free mass and SAT. In the multivariable model, the adherence to the Mediterranean diet was not associated with the risk of MUO (OR = 0.91, 95%CI: 0.62; 1.34, P = 0.624). Given the impact of menopause on metabolic health we also carried out the analysis in pre- and post-menopausal women separately. Higher adherence to the Mediterranean diet was associated with a lower risk of MUO in postmenopausal women (OR = 0.55, 95%CI: 0.31; 0.96, P = 0.034). No association was found in premenopausal women (OR = 1.18, 95%CI: 0.70; 1.99, P = 0.532). In conclusion, adherence to the Mediterranean diet was associated with a better metabolic health in postmenopausal women. Further studies are needed to confirm the ability of the Mediterranean diet in promoting maintenance of the healthy phenotype and reversion from MUO.

Ultra-processed foods and obesity and adiposity parameters among children and adolescents: a systematic review.

PURPOSE: According to the NOVA classification, ultra-processed foods are products made through physical, biological and chemical processes and typically with multiple ingredients and additives, in which whole foods are mostly or entirely absent. From a nutritional point of view, they are typically energy-dense foods high in fat, sugar, and salt and low in fiber. The association between the consumption of ultra-processed food and obesity and adiposity measurements has been established in adults. However, the situation remains unclear in children and adolescents. METHODS: We carried out a systematic review, in which we summarize observational studies investigating the association between the consumption of ultra-processed food, as defined by NOVA classification, and obesity and adiposity parameters among children and adolescents. A literature search was performed using PUBMED and Web of Science databases for relevant articles published prior to May 2021. RESULTS: Ten studies, five longitudinal and five cross-sectional, mainly conducted in Brazil, were included in this review. Four longitudinal studies in children with a follow-up longer than 4 years found a positive association between the consumption of ultra-processed food and obesity and adiposity parameters, whereas cross-sectional studies failed to find an association. CONCLUSION: These data suggest that a consistent intake of ultra-processed foods over time is needed to impact nutritional status and body composition of children and adolescents. Further well-designed prospective studies worldwide are needed to confirm these findings considering country-related differences in dietary habits and food production technologies.

Absence of a sexual dimorphism in postprandial glucose metabolism after administration of a balanced mixed meal in healthy young volunteers.

BACKGROUND/OBJECTIVES: A different ability to regulate glucose homeostasis between men and women may contribute to their difference in diabetes prevalence and in its predisposing conditions. Data on this issue are controversial because of heterogeneous protocols and insufficient control of confounders affecting glucose metabolism like age, body composition, and physical activity level. To clarify this issue, we compared among sexes the postprandial glucose metabolism after the administration of a balanced mixed meal normalized to daily energy expenditure. SUBJECTS/METHODS: Thirty-six healthy young volunteers (18 men and 18 women; age, 23.9 ± 2.8 years; BMI, 21.9 ± 1.7 kg/m2) were recruited for the experiment. After overnight fast, subjects consumed a mixed meal providing 40% of daily energy expenditure (60% carbohydrates, 25% lipids, 15% proteins) estimated multiplying resting energy expenditure, obtained by Harris & Benedict equation, for the corresponding physical activity level. Blood was sampled at 0, 10, 20, 30, 45, 60, 90, 120, and 180 min and serum concentrations of glucose, insulin, and C-peptide were measured. RESULTS: Fasting serum glucose concentrations were lower in women than in men, while fasting insulin and C-peptide concentrations did not differ between sexes. Linear mixed models did not show any significant effect of sex and sex # time interaction on postprandial serum glucose, insulin, and C-peptide concentrations. The comparison of areas under the curve between the sexes revealed similar glycemic, insulinemic, and C-peptide postprandial responses between men and women. CONCLUSIONS: Our results do not support the hypothesis of a sexual dimorphism in the regulation of carbohydrate metabolism in young when a mixed meal normalized on individual daily energy expenditure is ingested.

Growth pattern trajectories in boys with Duchenne muscular dystrophy.

OBJECTIVES: The objective of this study is to analyse retrospective, observational, longitudinal growth (weight, height and BMI) data in ambulatory boys aged 5-12 years with Duchenne muscular dystrophy (DMD). BACKGROUND: We considered glucocorticoids (GC) use, dystrophin isoforms and amenability to exon 8, 44, 45, 51 and 53 skipping drug subgroups, and the impact of growth on loss of ambulation. We analysed 598 boys, with 2604 observations. This analysis considered patients from the UK NorthStar database (2003-2020) on one of five regimes: "GC naïve", "deflazacort daily" (DD), "deflazacort intermittent" (DI), "prednisolone daily" (PD) and "prednisolone intermittent" (PI). A random slope model was used to model the weight, height and BMI SD scores (using the UK90). RESULTS: The daily regime subgroups had significant yearly height stunting compared to the GC naïve subgroup. Notably, the average height change for the DD subgroup was 0.25 SD (95% CI - 0.30, - 0.21) less than reference values. Those with affected expression of Dp427, Dp140 and Dp71 isoforms were 0.77 (95% CI 0.3, 1.24) and 0.82 (95% CI 1.28, 0.36) SD shorter than those with Dp427 and/or Dp140 expression affected respectively. Increased weight was not associated with earlier loss of ambulation, but taller boys still ambulant between the age of 10 and 11 years were more at risk of losing ambulation. CONCLUSION: These findings may provide further guidance to clinicians when counselling and discussing GCs commencement with patients and their carers and may represent a benchmark set of data to evaluate the effects of new generations of GC.

The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy.

PURPOSE: To obtain information on characteristics, management, current objective nutritional status and perception of nutritional status of children with cerebral palsy (CP) from healthcare professionals (HCPs) and caregivers. MATERIALS AND METHODS: A detailed survey of several items on eight main topics (general characteristics, motor function, comorbidities, therapies, anthropometry, feeding mode and problems and perceived nutritional status) was developed and tested for the study. Correlation between nutritional status and Gross Motor Function Classification System (GMFCS) levels was assessed using continuous variables (Z-scores for weight-for-age, height-for-age, weight-for-height, and body mass index-for-age), and categorical variables (being malnourished, stunted, or wasted). HCP and caregiver perceptions of the child's nutritional status as well as agreement between perceived and objective nutritional status and agreement between perceived nutritional status and concerns about the nutritional status were analyzed. RESULTS: Data were available for 497 participants from eight European countries. Poorer nutritional status was associated with higher (more severe) GMFCS levels. There was minimal agreement between perceived and objective nutritional status, both for HCPs and caregivers. Agreement between HCP and caregiver perceptions of the child's nutritional status was weak (weighted kappa 0.56). However, the concerns about the nutritional status of the child were in line with the perceived nutritional status. CONCLUSIONS: The risk of poor nutritional status is associated with more severe disability in children and adolescents with CP. There is a mismatch between HCP and caregiver perceptions of participants' nutritional status as well as between subjective and objective nutritional status. Our data warrant the use of a simple and objective screening tool in daily practice to determine nutritional status in children and adolescents with CP. Clinical trial registration: ClinicalTrials.gov Identifier: NCT03499288 (https://clinicaltrials.gov/ct2/show/NCT03499288). IMPLICATIONS FOR REHABILITATIONUse of the ESPGHAN recommendations and simple screening tools in daily practice is needed to improve nutritional care for individuals with CP.Attention should be paid to the differences in the perception of nutritional status of individuals with CP between professionals and caregivers to improve appropriate referral for nutritional support.Objective measures rather than the professional's perception need to be used to define the nutritional status of individuals with CP.

Eat, breathe, sleep with Osteogenesis Imperfecta.

BACKGROUND: Although Osteogenesis Imperfecta (OI) affects the connective tissue causing extremely brittle bones with consequent skeletal deformities, it is important to go beyond bones. Indeed, the quality of life in OI does not only depend on bones status, as OI might affect also other important functions. We have therefore implemented a multidisciplinary study to assess lung function, breathing pattern, sleep quality and nutritional status in 27 adult OI type III and IV patients (median age: 34.6 years; 19 women; 14 type III). RESULTS: According to nocturnal oxygen desaturation, two groups were identified: 13 patients with (OI_OSA, incidence: 48.2%) and 14 without (no_OSA) obstructive sleep apnea. The former was characterized by higher spinal and ribcage deformity, by more restrictive lung function, by paradoxical thoracic breathing in supine position, by rapid and shallow breathing, by higher body mass index, by longer neck and waist circumferences; by higher abdominal volume and by greater percentage of body fat mass, particularly localized in the trunk. The best predictor of OI_OSA was the negative value of the supine ribcage contribution to tidal volume, followed by the ratio between the neck and the waist circumferences with body height and the supine thoraco-abdominal volumes phase shift angle. CONCLUSIONS: The pathophysiology of OI ensued a dangerous vicious circle, in which breathing, sleep and nutritional status are tightly linked, and they might all end up in negatively affecting the quality of life. The vicious circle is fed by some intrinsic characteristics of the disease (thoracic, cranial and mandibular deformities) and some bad daily habits of the patients (i.e. physical inactivity and low dietary quality). The former impacts on restricting the respiratory function, the latter makes Olers more prone to experience overweight or obesity. The main consequence is a high incidence of obstructive sleep apnea, which remains an underdiagnosed disorder in individuals with severe OI who are obese, with a neck to height ratio over than 31.6%, and characterized by paradoxical breathing in supine position. A multidisciplinary approach, including evaluations of breathing, sleep and nutrition, is required to better manage the disease and fulfil the maximizing well-being of OI patients.

Growth patterns in children with spinal muscular atrophy.

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.

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

BACKGROUND: Body composition assessment is paramount for spinal muscular atrophy type I (SMA I) patients, as weight and BMI have proven to be misleading for these patients. Despite its importance, no disease-specific field method is currently available, and the assessment of body composition of SMA I patients requires reference methods available only in specialized settings. OBJECTIVE: To develop predictive fat mass equations for SMA I children based on simple measurements, and compare existing equations to the new disease-specific equations. DESIGN: Demographic, clinical and anthropometric data were examined as potential predictors of the best candidate response variable and non-linear relations were taken into account by transforming continuous predictors with restricted cubic splines. Alternative models were fitted including all the dimensions revealed by cluster analysis of the predictors. The best models were then internally validated, quantifying optimism of the obtained performance measures. The contribution of nusinersen treatment to the unexplained variability of the final models was also tested. RESULTS: A total of 153 SMA I patients were included in the study, as part of a longitudinal observational study in SMA children conducted at the International Center for the Assessment of Nutritional Status (ICANS), University of Milan. The sample equally represented both sexes (56% females) and a wide age range (from 3 months to 12 years, median 1.2 years). Four alternative models performed equally in predicting fat mass fraction (fat mass/body weight). The most convenient was selected and further presented. The selected model uses as predictors sex, age, calf circumference and the sum of triceps, suprailiac and calf skinfold thicknesses. The model showed high predictive ability (optimism corrected coefficient of determination, R2 = 0.72) and internal validation indicated little optimism both in performance measures and model calibration. The addition of nusinersen as a predictor variable did not improve the prediction. The disease-specific equation was more accurate than the available fat mass equations. CONCLUSIONS: The developed prediction model allows the assessment of body composition in SMA I children with simple and widely available measures and with reasonable accuracy.