Myotonic dystrophy type 1 (Steinert disease): 29 years of experience at a tertiary pediatric hospital.

BACKGROUND: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by the expansion of a noncoding triplet repeat. METHODS: A cross-sectional study was performed to characterize pediatric patients with DM1 followed in a tertiary hospital over the last 29 years, comparing the congenital and the childhood/juvenile-onset forms. RESULTS: Thirty-seven patients (59.5 % male) were included, with a median age at the latest assessment of 16.8 years and a median follow-up of 7.7 years. Eleven patients were lost to follow-up, and two died. Twenty-five had congenital DM1 (CDM1), and this form had significantly higher triplet repeat length, history of polyhydramnios, lower median age at diagnosis, and first and last assessment. Common symptoms included distal skeletal muscle weakness (75.7 %) and facial involvement (94.6 %), along with dysphonia/dysarthria (73.0 %) and myotonia (73.0 %). Delayed independent ambulation frequency was significantly higher for CDM1 cases. Skeletal deformities affected 54.1 %, with talipes equinovarus and scoliosis occurring exclusively in CDM1 patients. Cognitive deficit was present in 75.7 % of cases. Polysomnograms revealed seven cases of obstructive sleep apnea and two of hypoventilation. Noninvasive ventilation was used in nine cases, and three had recurrent respiratory infections. The cardiovascular system was affected in 21.6 % of cases. Gastrointestinal issues included constipation (24.3 %), feeding difficulties (16.2 %), and cholelithiasis (5.4 %). Cataracts, epilepsy, and diabetes mellitus were reported in two cases each. CONCLUSION: Our study highlights the diverse spectrum of severity and multiorgan involvement of DM1 in pediatric patients. It underscores the importance of establishing a pediatric-specific standard of care to enhance health outcomes through comprehensive multidisciplinary management.

Maternal Eating Behavior and Problematic Eating Behaviors of Children Undergoing Weight Loss Treatment: A Cluster Analysis.

Background: Research on the interplay between mothers' and children's eating behaviors is needed to better inform sensitive and tailored interventions for treatment-seeking children with overweight/obesity. The present study aimed to identify mothers' eating behavior phenotypes, investigating their associations with problematic eating behaviors of children undergoing weight loss treatment in two central hospitals. Methods: This is a cross-sectional study evaluating 136 mother-child dyads (Mothers: age 39.58 ± 5.40 years; Children: n = 75 female; age 10.13 ± 1.37 years). Mothers' eating behavior (restraint, emotional, and uncontrolled eating) and depression/anxiety, and children's problematic eating attitudes/behaviors were assessed. A cluster analysis (K-means) was performed using mothers' eating behavior dimensions. Multivariate Analysis of Covariance investigated differences between clusters on mothers' and children's sociodemographic, anthropometric, psychological, and eating-related variables. Results: Three clusters emerged: The Disordered Eating group (n = 39) of mothers with the highest scores on emotional eating and uncontrolled eating dimensions, the Restraint Eating group (n = 48), including mothers scoring high in cognitive restraint, and the Low Disordered Eating (n = 49) group where mothers scored low in all eating behavior dimensions. Children of mothers in the Disordered Eating cluster had significantly higher emotional overeating relative to children of mothers in the other two clusters. Conclusions: Distinctive eating behavior profiles of mothers, instead of the presence of single eating behaviors, seem to be associated with specific problematic eating behaviors of children undergoing weight loss treatment. Prospective studies are essential to determine whether these profiles can predict differential weight change trajectories in pediatric obesity treatment.

APOLO-Teens, a web-based intervention for treatment-seeking adolescents with overweight or obesity: study protocol and baseline characterization of a Portuguese sample.

PURPOSE: APOLO-Teens is an ongoing web-based program combining a manualized intervention delivered by Facebook®, a self-monitoring web application and monthly chat sessions to optimize treatment as usual for adolescents with overweight and obesity. The aims of this paper are twofold: (1) to describe the study protocol of the APOLO-Teens randomized controlled effectiveness trial and (2) to present baseline descriptive information of the Portuguese sample. METHODS: APOLO-Teens includes adolescents aged between 13 and 18 years with BMI percentile ≥ 85 (N = 210; 60.00% girls, BMI z-score 2.40 ± 0.75) undergoing hospital ambulatory treatment for overweight/obesity. Participants completed a set of self-report measures regarding eating behaviors and habits, psychological functioning (depression, anxiety, stress, and impulsivity), physical activity, and quality of life. RESULTS: Depression, anxiety, stress, impulsivity, and percentage body fat were inversely associated with health-related quality of life (rs = - 0.39 to - 0.62), while physical activity out-of-school was positively correlated with health-related quality of life (rs = 0.22). When compared to boys, girls demonstrated statistically significant higher scores on psychological distress, disturbed eating behaviors, impulsivity, were less active at school and had lower scores on the health-related quality of life (p < 0.05). CONCLUSION: The results showed that there were gender differences in key psychological constructs that are likely to determine success with the treatment and that, therefore, need to be considered in future interventions. The results of APOLO-Teens randomized controlled trial will determine the impact of these constructs on the efficacy and adherence to a web-based intervention for weight loss in the Portuguese population. LEVEL OF EVIDENCE: Level V, cross-sectional descriptive study.

Comparison between CDC and WHO BMI z-score and their relation with metabolic risk markers in Northern Portuguese obese adolescents.

BACKGROUND: Growth-curves are an important tool for evaluating the anthropometric development in pediatrics. The different growth-curves available are based in different populations, what leads to different cut-offs. Pediatric obesity tracks into adulthood and is associated with increased cardiovascular risk. The accurate assessment of a child nutritional status using growth-curves can indicate individuals that are either obese or in risk of becoming obese, allowing an early intervention. Moreover, the association between the data obtained from growth-curves with specific metabolic risk factors further highlights the importance of these charts. This study aimed to evaluate the associations between body mass index z-score (BMIzsc), determined using the growth-curves from the Centre for Disease Control and Prevention (CDC) and from the World Health Organization (WHO), with cardiovascular risk factors, represented here by metabolic syndrome (MS) and insulin resistance (IR) related parameters. The study involved 246 obese adolescents (10-18 years, 122 females). MS was defined according to the International Diabetes Federation. IR was considered for HOMA-IR greater than 2.5. FINDINGS: No difference between both BMIzsc in identifying MS was noticeable by a ROC analysis. For both indexes the area-under-the-curve increased for older groups, particularly for males. CDC-BMIzsc was the best predictor of MS by logistic regression when all population was considered, however MS was better predicted by WHO-BMIzsc for females and by CDC-BMIzsc for males. Younger girls and older boys were in increased risk for MS. Similar results were obtained for IR. CONCLUSIONS: A significant difference between the two BMIzsc regarding their association with MS and IR was not clear, being these associations weaker in younger individuals.

Body fat percentage is a major determinant of total bilirubin independently of UGT1A1*28 polymorphism in young obese.

OBJECTIVES: Bilirubin has potential antioxidant and anti-inflammatory properties. The UGT1A1*28 polymorphism (TA repeats in the promoter region) is a major determinant of bilirubin levels and recent evidence suggests that raised adiposity may also be a contributing factor. We aimed to study the interaction between UGT1A1 polymorphism, hematological and anthropometric variables with total bilirubin levels in young individuals. METHODS: 350 obese (mean age of 11.6 years; 52% females) and 79 controls (mean age of 10.5 years; 59% females) were included. Total bilirubin and C-reactive protein (CRP) plasma levels, hemogram, anthropometric data and UGT1A1 polymorphism were determined. In a subgroup of 74 obese and 40 controls body composition was analyzed by dual-energy X-ray absorptiometry. RESULTS: The UGT1A1 genotype frequencies were 49.9%, 42.7% and 7.5% for 6/6, 6/7 and 7/7 genotypes, respectively. Patients with 7/7 genotype presented the highest total bilirubin levels, followed by 6/7 and 6/6 genotypes. Compared to controls, obese patients presented higher erythrocyte count, hematocrit, hemoglobin and CRP levels, but no differences in bilirubin or in UGT1A1 genotype distribution. Body fat percentage was inversely correlated with bilirubin in obese patients but not in controls. This inverse association was observed either in 6/7 or 6/6 genotype obese patients. UGT1A1 polymorphism and body fat percentage were the main factors affecting bilirubin levels within obese patients (linear regression analysis). CONCLUSION: In obese children and adolescents, body fat composition and UGT1A1 polymorphism are independent determinants of total bilirubin levels. Obese individuals with 6/6 UGT1A1 genotype and higher body fat mass may benefit from a closer clinical follow-up.

Adiponectin and markers of metabolic syndrome in obese children and adolescents: impact of 8-mo regular physical exercise program.

BACKGROUND: Adiponectin circulates as low-, medium-, and high-molecular-weight multimers (LMW, MMW, and HMW) and influences lipid profile and insulin resistance (IR), HMW being considered as the most biologically active form. We aimed to study the relation between adiponectin and markers of metabolic syndrome (MS) in pediatric obesity, and the impact of physical exercise. METHODS: The study consisted of a cross-sectional part and an 8-mo physical exercise program. Lipid profile, insulin, glucose, C-reactive protein (CRP), total adiponectin (TA), and homeostasis model assessment IR (HOMA-IR) were measured. Adiponectin multimers were studied in a prepubertal group. RESULTS: Obesity is associated with increased dyslipidemia, IR, and inflammation. TA is correlated inversely with adiposity, triglycerides, HOMA-IR, and CRP, and positively with high-density lipoprotein cholesterol (HDLc)/total cholesterol (TC) ratio. HMW mimicked TA associations. The intervention program led to a reduction of TC, low-density lipoprotein cholesterol (LDLc), insulin, HOMA-IR, and trunk percentage of fat, and an increase of HDLc/TC ratio, in the obese group. BMI improvements prevented adiponectin reduction and correlated with increments in HMW and MMW. CONCLUSION: Obesity-related increase in MS features might be linked to lower adiponectin. HMW and MMW were the multimers that most explained the MS features. The intervention program improved the lipid profile and IR, and prevented the reduction of adiponectin.

Cardiovascular risk factors in portuguese obese children and adolescents: impact of small reductions in body mass index imposed by lifestyle modifications.

OBJECTIVES: Evaluate cardiovascular risk factors in Portuguese obese children and adolescents and the long-term effects of lifestyle modifications on such risk factors. DESIGN: Transversal cohort study and longitudinal study. SETTING: University Hospital S. João and Children's Hospital Maria Pia, Porto. PATIENTS/PARTICIPANTS: 148 obese children and adolescents [81 females (54.7%); mean age of 11.0 years] and 33 controls (sex and age matched) participated in a cross-sectional study. Sixty obese patients agreed to participate in an one year longitudinal study after medical and nutritionist appointments to improve lifestyle modification; a substantial body mass index (BMI) reduction was defined by a decrease in BMI z-score (BMI z-sc) of 0.3 or more over the studied period. MAIN OUTCOME MEASURES: Lipid profile (triglycerides, cholesterol, HDLc, LDLc, lipoprotein (a), apolipoproteins A and B) and circulating levels of C-reactive protein (CRP), adiponectin, glucose, and insulin. RESULTS: Compared with the lean children, obese patients demonstrated statistically significantly higher insulin resistance index [Homeostasis model assessment (HOMA)], and triglycerides, LDLc, apolipoprotein (apo) B, insulin and CRP concentrations, whereas their HDLc and apo A levels were significantly lower (cross-sectional study). In the longitudinal study (n=60), a substantial BMI reduction occurred in 17 (28.3%) obese patients which led to a significant reduction in triglycerides, cholesterol, LDLc, apo B, glucose and insulin levels and in HOMA. The ΔBMI values over the studied period correlated inversely and significantly with BMI (P<0.001) and HOMA (P=0.026) values observed at baseline. In multiple linear regression analysis, BMI at baseline remained associated to changes in BMI over the studied period (standardised Beta: -0.271, P=0.05). CONCLUSION: Our data demonstrates that small reductions in BMI-zc, imposed by lifestyle modifications in obese children and adolescents, improve the cardiovascular risk profile of such patients. Furthermore, patients with higher BMI and/or insulin resistance seem to experience a greater relative reduction in their BMI after lifestyle improvements.

Leukocyte Count versus C-Reactive Protein Levels in Obese Portuguese Patients Aged 6-12 Years Old.

OBJECTIVES: to evaluate whether total and differential WBC counts are altered in young obese patients (aged 6-12 years) and if a relationship exists between WBC counts and the severity of obesity as well as with CRP level. MATERIALS AND METHODS: a group of 77 obese patients [32 males and 45 females] and 19 controls [7 males and 12 females] were studied. Total WBC count was performed by using an automatic blood cell counter. Blood cell morphology and WBC differential count were evaluated in Wright stained blood films. The plasma levels of CRP were evaluated by immunoturbidimetry. RESULTS: obese participants presented with a statistically significant higher neutrophil percentage and CRP levels when compared to controls; the median CRP value was about 5 times higher than that observed in controls. Absolute neutrophil count and neutrophil/lymphocyte ratio were also higher in patients, though without statistical significance. The parameters that were statistically significant related with adiposity markers were neutrophil count and CRP levels. The neutrophil count was positively and statistically correlated with body mass index (BMI), BMI z-score, waist circumference and waist/height ratio, and also with CRP levels. In multiple regression analysis, the only variable that remained statistically associated with neutrophil count was CRP (neutrophil count = 2.612 + 0.439lnCRP; standardised coefficient/beta: 0.384, P=0.001). When performing multiple regression without CRP, the only variable that remained statistically associated with neutrophil count was BMI. CONCLUSIONS: our results demonstrated in obese patients aged 6-12 years, a significant change in the differential leukocyte count towards neutrophilia, together with a significant higher CRP concentration, and that absolute neutrophil count correlates with obesity markers and with CRP levels. Our data also indicate that neutrophil count, a current clinically used low-cost parameter, may be used as an obesity-related inflammatory marker in young obese patients.