Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA published a consensus statement on SMA standard of care that has been widely used throughout the world. Here we report a two-part update of the topics covered in the previous recommendations. In part 1 we present the methods used to achieve these recommendations, and an update on diagnosis, rehabilitation, orthopedic and spinal management; and nutritional, swallowing and gastrointestinal management. Pulmonary management, acute care, other organ involvement, ethical issues, medications, and the impact of new treatments for SMA are discussed in part 2.

Introduction We present the experiences from two European centers performing the Foker technique (FT) of esophageal lengthening by axial traction and the Kimura advancement (KA) method of lengthening the upper pouch by extrathoracic resiting a spit fistula (SF) in children with long-gap esophageal atresia (LGEA, gap length > 5 cm). Materials and Methods A total of 15 children were treated (8 pure EA, 6 lower tracheoesophageal fistula [TEF], and 1 upper TEF). Gaps ranged from 5 to 14 cm. Nine children already had a SF. Patients were grouped according to the presence of a SF and the subsequent surgical strategy: Group A (no SF, n = 6) received FT on both pouches. Group B (with SF, n = 6) received KA of SF and FT of the lower pouch. Group C (with SF, n = 3) received closure of the SF and subsequent Foker traction (CSFT) on both pouches. Results Group A: Primary repairs for all six children (mean age 3 months, gap length 6.5 cm) after a mean traction time of 3 weeks and a mean of 2.1 thoracotomies (range 2 to 3). Dilations were required in three out of six for anastomotic strictures with one perforation during the second dilation. Group B: All six children (mean age 16.4 months, gap length 9.5 cm) had a primary anastomosis, although for two it was significantly delayed (48 and 143 weeks traction time) because of infections. The number of thoracotomies ranged from 2 to 8 (mean 3.6). Leaks occurred in five out of six anastomoses (responsive to conservative management). Two children developed severe strictures, which required the anastomosis to be redone. In group C (mean age 10.6 months, gap length 6.5 cm), several major complications occurred. The three SF closures leaked (one iatrogenic) causing severe mediastinitis. CSFT was successful in only one case and the other two children had an esophageal replacement (stomach, jejunum). No deaths occurred in the series. Conclusion FT of both pouches (group A) resulted in primary repairs of all six LGEA patients. The combination of KA and FT (group B) resulted in an equivalent rate of primary repairs, but with an increased number of thoracotomies and rate of complications compared with group A. CSFT (group C) resulted in a high failure rate. More data are needed (we propose a multicenter registry) to elucidate the safety and efficacy of each elongation technique and to establish an algorithm with clearer inclusion and exclusion criteria.

The prevalence of childhood obesity is increasing worldwide. Some obese children can go on to develop metabolic syndrome (MetS), but exactly who among them remains to be determined. The aim of this study was to indicate predisposing factors for metabolic syndrome, especially those that can be modified. The study comprised 591 obese children aged 10–12 years. They were all Caucasian residents of Gdańsk, Poland, with similar demographic backgrounds. Clinical examination, anthropometry, biometric impedance analysis, blood tests (including oral glucose tolerance tests (OGTT) and insulinemia), and dietary and physical activity evaluation were conducted. The results of our study show that the risk factors for MetS or any of its components include male sex, parental (especially paternal) obesity, low body mass at birth, as well as omitting breakfast or dinner. There are few risk factors for metabolic syndrome both in obese adults and children. Some of these predictors can be modified, especially those in relation to lifestyle. Identifying and then influencing these factors may help to reduce the development of metabolic syndrome and consequently improve health and quality of life.

This review summarizes findings from studies assessing the nutritional status of patients with celiac disease (CD). Malnutrition, including over- and undernutrition, may be present in CD, both at diagnosis and while under treatment. Underweight and growth retardation in children, which mostly reflect malabsorption as a consequence of intestinal inflammation, are not a rule. Clinical presentations of CD can vary widely, and each manifestation has its own characteristics. Evaluating various nutritional parameters can be beneficial for CD patients and may improve health outcomes by facilitating an accurate definition of dietary needs and the development of a balanced diet that not only focuses on eliminating gluten but also provides adequate nutrients, alters metabolism, and reduces the risk of other disorders developing. The cornerstone of CD therapy is a gluten-free diet (GFD), which improves nutritional status, but even on a GFD, features of malnutrition may be present. Additionally, overweight and obesity may occur in patients on a GFD, with typical metabolic consequences.