Infant Foundation

Glucose transporter type 1 deficiency syndrome (Glut1DS) is a rare metabolic encephalopathy caused by pathogenic SLC2A1 variants. Ketogenic dietary therapy (KDT) is the mainstay of treatment. In Latin America, Glut1DS remains underdiagnosed due to limited awareness and restricted access to genetic testing. This study describes the clinical and genetic features, management, and response to KDT in an Argentine cohort. A retrospective multicenter study was conducted including patients with a clinical and/or genetic diagnosis of Glut1DS. Clinical data, seizure types, neurodevelopmental features, treatment response, and KDT characteristics were collected from medical records using a standardized form. Genetic confirmation was obtained by SLC2A1 sequencing. Descriptive and comparative analyses were performed. Thirty-nine patients with Glut1DS (64% males) were included. Mean age at evaluation was 13.7 years. Median ages at symptom onset and diagnosis were 6 and 55 months, respectively, with a median diagnostic delay of 49 months. Cognitive impairment was present in two-thirds of patients, and movement disorders in 79%. Epilepsy occurred in 74%. Of 39 patients, all but one received KDT, with MCT oil in 64%. Thirty patients remained on KDT, achieving seizure freedom in 86% and >50% reduction in four others. Improvements were reported in motor coordination (38%), cognition and attention (10%), energy (10%), and behavior (8%). No major adverse effects were reported. This first national report underscores the clinical diversity of Glut1DS in Argentina and a positive trend toward earlier KDT initiation. Strengthening early diagnosis, systematic follow-up, and equitable access to therapy remains essential.

Las anemias hereditarias son un conjunto de trastornos hematológicos que muestran una amplia heterogeneidad clínica y genética, lo que dificulta el abordaje a un diagnóstico de certeza y, por lo tanto, un tratamiento en forma oportuna. En el presente reporte se describe el caso de un paciente en edad pediátrica con anemia hemolítica asociada a una variante en el gen SPTA1 con dependencia transfusional y consecuente sobrecarga de hierro, para el cual se decidió la realización de esplenectomía con el fin de beneficiar el crecimiento y desarrollo del niño.

Despite the promise of reflective consultation and the beneficial impacts it may have on enhancing early childhood educator social-emotional well-being and competence, there is limited research on reflective consultation with early childhood educators. The current project, Escúchanos, examined how English-speaking and bilingual Spanish-English early childhood educators (n =16, 6 White, 9 Latina, 1 Asian/Pacific Islander) in the United States experienced reflective consultation at their child care centers. Semi-structured interviews were conducted in the participant's preferred language to provide a better understanding of the perceived benefits and suggested improvements for delivering reflective consultation in early childhood and education settings. Early childhood educators in the study were provided with reflective consultation sessions over 7 months offered by trained mental health consultants in a linguistically responsive manner. Given the cultural and linguistic diversity of the early childhood workforce, this study contributes to the practice of providing culturally and linguistically responsive reflective consultation. Findings from this study suggest that reflective consultation offered early childhood educators with the: space to express feelings; time to take a pause; opportunities to work as a team; and an enhanced awareness of self and others.

Background: Gastric pull-up has been described as an alternative for esophageal replacement in patients with congenital or acquired conditions, allowing restoration of gastrointestinal tract continuity and function. In our surgical team, the minimally invasive approach has become the preferred technique. In this article, we present our 10-year experience with this procedure. Methods: We conducted a retrospective study of patients who underwent laparoscopic gastric transposition with cervical esophagogastric anastomosis as esophageal replacement at two referral medical centers in Cali, Colombia, between January 2015 and December 2024. Results: A total of 13 patients were identified, most of them female (53.8 %). The mean age was 8.4 years (range: 6 months–19 years). The main indications for esophageal replacement were caustic injury (61.5 %), esophageal atresia (30.8 %), and one case of systemic scleroderma. The majority (92.3 %) were performed via the posterior mediastinal route, and 48.2 % included pyloroplasty. Only one conversion to open surgery was required due to adhesions at the site of a previous esophageal stent. Anastomotic stricture occurred in 23 % of cases; one required resection and re-anastomosis, while the others were successfully managed endoscopically. One case of anastomotic leak was treated with endoluminal vacuum-assisted closure therapy without the need for reoperation. At follow-up, all patients were feeding orally, achieving 100 % of their nutritional requirements. Conclusion: Laparoscopic gastric pull-up is a safe and effective alternative for esophageal replacement in pediatric patients. This technique minimizes cardiopulmonary compromise, requires only a single cervical anastomosis, and is associated with favorable long-term outcomes and high levels of parental and patient satisfaction.

BackgroundShiga toxin-producing Escherichia coli-associated hemolytic uremic syndrome (STEC-HUS) is a severe condition mainly affecting children. It is one of the leading causes of acute kidney injury in the pediatric population. There is no established therapy for this disease. INM004 is an anti-Shiga toxin composed of equine polyclonal antibodies. This study is aimed at assessing the safety, pharmacokinetics, and efficacy of INM004 in pediatric patients with STEC-HUS.MethodsPhase 2, open-label clinical trial with an historical control arm. Patients in the treatment arm received two doses of INM004. The primary endpoints were the safety profile, pharmacokinetics, and efficacy (dialysis days) of INM004. Secondary endpoints included other kidney and extrarenal outcomes. Propensity score matching was used for efficacy comparisons between arms.ResultsFifty-seven and 125 patients were enrolled in the treatment and control arm, respectively. After propensity score matching, 52 patients remained in each arm. INM004 was well-tolerated. Eight adverse events were considered possibly related, none of which were serious or severe. In the primary efficacy endpoint, patients of the treatment arm presented a non-statistically significant difference of two dialysis days. On secondary endpoints, non-statistically significant trends toward fewer patients needing dialysis and dialysis for more than 10 days, and shorter time to glomerular filtration rate normalization, were observed favoring the treatment arm.ConclusionsINM004 showed an adequate safety profile. Efficacy non-statistically significant trends suggesting a beneficial effect in the amelioration of kidney injury were observed. These results encourage the conduction of a phase 3 study of INM004 in pediatric patients with STEC-HUS.Graphical A higher resolution version of the Graphical abstract is available as Supplementary information

Introduction. Autism spectrum disorder (ASD) is characterized by difficulties in social communication and repetitive and stereotyped behaviors. In addition to the diagnostic category, the activities performed by children and adolescents and their social involvement are the main aspects to be considered according to the International Classification of Functioning, Disability, and Health (ICF) proposed by the World Health Organization to describe health status. In a previous study, we developed the first version of a pediatric tool based on the ICF called ICF-ASD for the functional assessment of children and adolescents with ASD to capture functional characteristics adapted to our cultural setting. Our subsequent objective was to apply the ICF-ASD in a multicenter format to assess children and adolescents from different regions, review, and update it, and identify barriers and facilitators. Population and methods. The ICF-ASD version 1.0 was administered to children and adolescents younger than 16 years with a confirmed diagnosis of ASD (as per DSM-5 criteria), who were receiving follow-up at 5 children's health centers across Argentina. Results. Version 2.0 of the ICF-ASD was obtained, which included 34 categories (10 under body function, 15 under activities and participation, and 9 under environmental factors). A functional profile was developed for the whole sample (n = 308). Conclusions. The updated version of the ICF-ASD helps to standardize and systematize the collection of necessary data for an adequate follow-up of children and adolescents with ASD at a national level. It also allows to identify barriers to overcome and facilitators to be generalized.

The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been reached on the best way to control the association of PA with MA. The aim of the study was to evaluate the risk of PA increase, at 1-year intervals, for selected BD, especially controlling for the confounding effect of MA. The sample comprised of 27,944 liveborns presenting 1 of 18 selected isolated BD. Conditional logistic regressions were applied to evaluate the risk of advanced PA and its yearly increase, adjusting by MA and other variables. Of the 18 analyzed BD, only the risk for preaxial polydactyly (PreP) showed a significant association with increasing PA, while advanced MA was of low risk. For esophageal and anal atresia, associations with both PA and MA increases were observed. Results support the hypothesis of advanced PA as a risk factor for PreP and helps clarify the so far unexplained nonrandom association between this defect and Down syndrome.