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Introduction: Patients with achondroplasia present, in addition to disproportionate short stature, multiple manifestations that require a comprehensive approach. The present consensus of experts in Spain responds to the need to establish clear guidelines for the management of achondroplasia with the introduction of a new treatment, vosoritide., Material and Methods: A panel of six experts in achondroplasia participated in the development of the consensus. They developed a narrative review of the recommendations on achondroplasia and vosoritide treatment, which were agreed upon and adapted to the Spanish context in two subsequent meetings with a structured discussion format., Results: This protocol underscores that achondroplasia requires specialised and multidisciplinary management involving expert paediatricians and specialists in paediatric endocrinology or medical genetics, in collaboration with specialists in neurology, neurosurgery, pneumology, otorhinolaryngology, rehabilitation, and orthopaedics or psychology, among others, with adequate coordination of care. This interdisciplinary team should be involved in the planning of vosoritide treatment (including the education of patients and caregivers, with management of their expectations, and their training in the practical aspects of vosoritide administration), treatment initiation and close monitoring with regular assessment of anthropometric, biochemical, functional or patient-reported variables., Conclusions: This protocol for the administration of vosoritide will allow standardised implementation and optimization of treatment outcomes. It also offers an opportunity to improve the management of achondroplasia in Spain through a comprehensive and interdisciplinary approach., (Copyright © 2024. Published by Elsevier España, S.L.U.)

Objective: The aim of the study was to describe how physical exercise affects metabolic control, insulin requirements and carbohydrate intake in children who use hybrid closed-loop systems., Methods: Cross-sectional study design. The sample included 21 children and adolescents diagnosed with type 1 diabetes. During the study, participants were monitored for a period of 7 days to gather comprehensive data on these factors., Results: Nine participants (42.9%) had switched to exercise mode to raise the target glucose temporarily to 150 mg/dL. The HbA1c values ranged from 5.5% to 7.9% (median, 6.5%; IQR, 0.75). The percentage of time within the target range of 70-180 mg/dL was similar; however, there was an increased duration of hyperglycaemia and more autocorrections on exercise days. The time spent in severe hyperglycaemia (>250 mg/dL) increased by 2.7% in exercise compared to non-exercise days (P = .02). It is worth noting that hypoglycaemic episodes did not increase during the exercise days compared with non-exercise days., Conclusion: The hybrid closed-loop system was effective and safe in children and adolescents with type 1 diabetes during the performance of competitive sports in real life., (Copyright © 2024 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.)

The objective is to investigate the relation between cord blood mercury concentrations and child neurobehavioural functioning assessed longitudinally during childhood until pre-adolescence., Methods: The study involves mothers and their offspring engaged in the Spanish INMA birth cohort (n = 1147). Total mercury (THg) was determined in cord blood. Behavioural problems were assessed several times during childhood using the ADHD-DSM-IV at age 4, SDQ at ages 7 and 11, CPRS-R:S and the CBCL at ages 7, 9 and 11. Covariates were obtained through questionnaires during the whole period. Multivariate generalised negative binomial (MGNB) models or mixed-effects MGNB (for those tests with information at one or more time points, respectively) were used to investigate the relation between cord blood THg and the children's punctuations. Models were adjusted for prenatal fish intake. Effect modification by sex, prenatal and postnatal fish intake, prenatal fruit and vegetable intake, and maternal polychlorinated biphenyl concentrations (PCBs) was assessed by interaction terms., Results: The geometric mean ± standard deviation of cord blood THg was 8.22 ± 2.19 μg/L. Despite adjusting for fish consumption, our results did not show any statistically significant relationship between prenatal Hg and the children's performance on behavioural tests conducted between the ages of 4 and 11. Upon assessing the impact of various factors, we observed no statistically significant interaction., Conclusion: Despite elevated prenatal THg exposure, no association was found with children's behavioural functioning assessed from early childhood to pre-adolescence. The nutrients in fish could offset the potential neurotoxic impact of Hg. Further birth cohort studies with longitudinal data are warranted., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

In clinical practice, it is not rare to encounter situations in which parents and families are asked to leave the child alone with the health care team in rooms full of devices throughout the performance of procedures, which at times may give rise not only to conflicts but, more importantly, emotional sequelae in children or adolescents. We conducted a narrative review of the literature by searching the digital library of the public health care system of Andalusia for articles concerning the experiences of health care professionals and families with the accompaniment of paediatric patients during health care procedures. We restricted the search to studies published in Spanish or English and conducted in humans. The review evinced the need to humanise care in order to improve care quality. The need to accompany minors is supported by the evidence from works that have analysed the factors involved in the persistence of these behaviours and attitudes in both professionals and parents. We consider it necessary to develop institutional policies and appoint mediators to compile the statements of different national and international societies, taking into account legal aspects but, above all, the pertinent values from a health care ethics perspective, and in pursuit of the best interests of the child., (Copyright © 2023 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.)

Pseudohypoparathyroidism (PHP) is a spectrum of diseases characterized by insensitivity of target tissues to the action of parathyroid hormone and, consequently, by the presence of hyperphosphatemia and hypocalcaemia of varying severity. Early-onset obesity is a feature of PHP type 1A. This article discusses the need to establish uniform criteria to guide the nutritional management of patients with PHP. A decrease in energy expenditure calls for an adjustment of the energy content of the diet. Reducing the intake of foods rich in inorganic phosphorus helps to manage hyperphosphataemia. Targeted nutrition should be part of the treatment plan of children and adolescents with PHP, since it contributes to modulating the calcium and phosphorus metabolism imbalances characteristic of these patients., (Copyright © 2023 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.)

Achondroplasia requieres multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life of people who suffer from it and favoring their independence and social inclusion. This review is justified by the multiple publications generated in recent years that have carried out a change in its management. Different guidelines and recommendations have been developed, among which the one made by the American Academy of Pediatrics in 2005 recently updated (2020), the Japanese guide (2020), the first European Consensus (2021) and the International Consensus on the diagnosis, approach multidisciplinary approach and management of individuals with achondroplasia throughout life (2021). However, and despite these recommendations, there is currently a great worldwide variability in the management of people with achondroplasia, with medical, functional and psychosocial consequences in patients and their families. Therefore, it is essential to integrate these recommendations into daily clinical practice, taking into account the particular situation of each health system., (Copyright © 2022 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.)

Background: During pregnancy, women are commonly exposed to several endocrine-disrupting chemicals, including persistent organic pollutants (POPs). These compounds can transfer to the fetus through the placenta. Prenatal POP exposure is related to altered fetal genital and reproductive tract development. However, the relationship between exposure to POP mixtures and anogenital distance (AGD) is poorly investigated. This study investigated the association between prenatal exposure to POP mixtures and AGD in 8-year-old children., Methods: Data were collected from the INMA-Asturias cohort. Maternal serum POP concentrations were measured during the first trimester of pregnancy. Anoscrotal distance (AGD AS ) and anopenile distance (AGD AP ) in males and anofourchetal distance (AGD AF ) and anoclitoral distance (AGD AC ) in females were recorded in 362 8-years-olds. Conventional linear regression, and the novel weighted quantile sum regression (WQSR) and Bayesian kernel machine regression (BKMR) models were applied to assess the relationships between AGD and POPs exposure stratified by sex., Results: Among males, in the linear regression, b-hexachlorocyclohexane, PCB138, PCB153, and PCB180 were inversely associated with the anogenital index (AGI) AS (-0.06 mm/kg (95% confidence interval [CI]: -0.11, -0.02), -0.07 mm/kg (95% CI: -0.14, -0.01), -0.07 mm/kg (95% CI: -0.13, -0.01), and -0.08 mm/kg (95% CI: -0.14, -0.02), respectively). Among females, polybrominated diphenyl ether (PBDE)47 and PBDE154 were positively associated with increased AGI AF (0.02 mm/kg (95% CI: 0.00, 0.03) and 0.09 mm/kg (95% CI: 0.01, 0.17), respectively). BKMR confirmed these associations. WQSR found a negative combined effect of the POP mixture on AGD, and PCB138, PCB153, and PCB180 (weighted 0.18, 0.13, and 0.09, respectively) were identified as the most impacting chemicals. In females, WQSR found a positive combined effect and determined PBDE47 (weighted 0.35) as the most impacting., Conclusions: Maternal exposure to a POP mixture was negatively associated with AGD in male children and positively associated with AGD in female children, thus providing evidence of the adverse effects of POPs on genital development., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)

Background & Aims: Maternal ultra-processed food (UPF) consumption during pregnancy may adversely affect child development. Pregnancy sugar-sweetened beverage consumption (as a part of UPF) has been associated with child cognitive dysfunction in the general population, but the role of total UPF consumption during pregnancy in later child neuropsychological development has not been studied. We aimed to analyse the association between maternal pregnancy UPF consumption and child neurodevelopment., Methods: This study involved 2377 pairs of pregnant women and their offspring from a Spanish birth cohort (recruitment period: 2004-2008, INMA project). Dietary intake was estimated using a 101-item food frequency questionnaire in the third trimester of pregnancy. The NOVA classification was used to identify UPFs, and their consumption was calculated as the daily percentage of total food consumption and categorized into tertiles. Child neuropsychological development was assessed with the Bayley Scales of Infant and Toddler Development (1-year-old, n = 1929) and the McCarthy Scales of Children's Abilities (4-5 years-old, n = 1679). Potential associations were analysed using multivariate linear regression models adjusted for a range of family and child characteristics., Results: UPF consumption among pregnant women represented an average of 17% of the total diet, with sugar-sweetened beverages being the most commonly consumed type of UPF (40%). Children born to mothers in the highest tertile of UPF consumption (28.9% or more of the total diet) vs the lowest tertile (7.2% or less), showed a lower score (B = -2.29 [95% Confidence Interval (CI), -4.13; -0.46]) in the Verbal Scale of the McCarthy Scales (p-for-trend = 0.02). No associations were observed with the McCarthy Scales assessing other cognitive domains or with the Bayley Scales., Conclusion: Of the seven cognitive domains studied, we observed an adverse association between maternal consumption of UPF during pregnancy and verbal functioning in early childhood, which is an important cognitive domain of neurodevelopment., Competing Interests: Conflict of interest The authors have indicated they have no potential conflicts of interest to disclose., (Copyright © 2022 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

Some people, including minors, have a gender identity that does not correspond to the sex assigned at birth. They are known as trans* people, which is an umbrella term that encompasses transgender, transsexual, and other identities not conforming to the assigned gender. Healthcare units for trans* minors require multidisciplinary working, undertaken by personnel expert in gender identity, enabling, when requested, interventions for the minor and their social-familial environment, in an individualized and flexible way during the gender affirmation path. This service model also includes hormonal treatments tailored as much as possible to the individual's needs, beyond the dichotomic goals of a traditional binary model. This guide addresses the general aspects of professional care of trans* minors and presents the current evidence-based protocol of hormonal treatments for trans* and non-binary adolescents. In addition, it details key aspects related to expected body changes and their possible side effects, as well as prior counselling about fertility preservation., (Copyright © 2022 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.)

Background: Exposure to toxic and non-toxic metals impacts childhood growth and development, but limited data exists on exposure to metal mixtures. Here, we investigated the effects of exposure to individual metals and a mixture of barium, cadmium, cobalt, lead, molybdenum, zinc, and arsenic on growth indicators in children 4-5 years of age., Methods: We used urine metal concentrations as biomarkers of exposure in 328 children enrolled in the Spanish INMA-Asturias cohort. Anthropometric measurements (arm, head, and waist circumferences, standing height, and body mass index) and parental sociodemographic variables were collected through face-to-face interviews by trained study staff. Linear regressions were used to estimate the independent effects and were adjusted for each metal in the mixture. We applied Bayesian kernel machine regression to examine non-linear associations and potential interactions., Results: In linear regression, urinary levels of cadmium were associated with reduced arm circumference (β adjusted  = -0.44, 95% confidence interval [CI]: -0.73, -0.15), waist circumference (β adjusted  = -1.29, 95% CI: -2.10, -0.48), and standing height (β adjusted  = -1.09, 95% CI: -1.82, -0.35). Lead and cobalt concentrations were associated with reduced standing height (β adjusted  = -0.64, 95% CI: -1.20, -0.07) and smaller head circumference (β adjusted  = -0.29, 95% CI: -0.49, -0.09), respectively. However, molybdenum was positively associated with head circumference (β adjusted  = 0.22, 95% CI: 0.01, 0.43). BKMR analyses showed strong linear negative associations of cadmium with arm and head circumference and standing height. BKMR analyses also found lead and cobalt in the metal mixture were related to reduce standing height and head circumference, and consistently found molybdenum was related to increased head circumference., Conclusion: Our findings suggest that exposure to metal mixtures impacts growth indicators in children., (Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)

Spain is the European country where more assisted reproduction techniques (ART) are performed, reaching 9% of newborns. The objective of this article is to introduce the legal framework and to analyze some ethical questions, not without controversy, in relation to the anonymity of gamete donors and the concealment of origin by ART from their children. Spanish legislation establishes the relative anonymity of donors: both gamete recipients and born children have the right to obtain general information about them as long as their identity is not included, but in situations of risk to the life and health of the children allows your bankruptcy. Likewise, an unequivocal right to privacy and confidentiality of submission to the ART is established. The movement aimed at introducing in our country a legislative amendment that ends the anonymity of gamete donors is based on the right of those children to know their biological origin. Along with legal changes, the attitude of parents and professionals must gradually change towards more transparent and responsible communication, based on the experiences of adults conceived by these techniques, and those adopted. Building values such as trust and truth in the family relationships from responsibility requires placing the children, largely forgotten and the most vulnerable part, at the center of the debate., (Copyright © 2021 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.)

Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, or Costello syndrome, are caused by mutations in genes encoding proteins of the RAS-MAPKinases pathway. Because of this shared mechanism, these conditions have been collectively termed «RASopathies». Despite the recent advances in molecular genetics, nearly 20% of patients still lack a genetic cause, and diagnosis is still made mainly on clinical grounds. NS is a clinically and genetically heterogeneous condition, with variable expressivity and a changing phenotype with age, and affects multiple organs and systems. Therefore, it is essential that physicians involved in the care of these patients are familiarised with their manifestations and the management recommendations, including management of growth and development. Data on growth hormone treatment efficacy are sparse, and show a modest response in height gains, similar to that observed in Turner syndrome. The role of RAS/MAPK hyper-activation in the pathophysiology of this group of disorders offers a unique opportunity for the development of targeted approaches., (Copyright © 2020 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.)

An ethical and legal view of gender diversity in childhood and adolescence is presented from the perspective of the best interest of the child and the principle of protection against vulnerability. The identification of gender diversity in childhood and adolescence is a process that requires support, coordination and a multidisciplinary team that improves care and helps to obtain evidence that is lacking today. Secure, equitable and comprehensive access to care and health care should be guaranteed when required. It is necessary to promote a changing of social outlook, capable of overcoming the stereotypes that lead to discrimination and increase suffering. Respect for gender diversity in childhood and adolescence is a fundamental Human Right. The recognition of a positive value in diversity is an ethical imperative. All of this, without forgetting that we are talking about minors often in contexts of vulnerability, and currently very uncertain, so prudence is the main rule that should guide decision-making., (Copyright © 2018 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.)

Inorganic arsenic (i-As) has been related to wide-ranging health effects in children, leading to lifelong concerns. Proportionally, dietary i-As exposure dominates in regions with low arsenic drinking water. This study aims to investigate the relation between rice and seafood consumption and urinary arsenic species during childhood and to assess the proportion of urinary i-As metabolites. Urinary arsenic species concentration in 400 4-year-old children living in four geographical areas of Spain, in addition to repeated measures from 100 children at 7 years of age are included in this study. Rice and seafood products intake was collected from children's parents using a validated food frequency questionnaire (FFQ). At 4 years of age, children's urine i-As and monomethylarsonic acid (MMA) concentrations increased with rice product consumption (p-value = 0.010 and 0.018, respectively), and urinary arsenobetaine (AsB) with seafood consumption (p = 0.002). Four-year-old children had a higher consumption of both rice and seafood per body weight and a higher urinary %MMA (p-value = 0.001) and lower % dimethylarsinic acid (DMA) (p-value = 0.017). This study suggests increased dietary i-As exposure related to rice product consumption among children living in Spain, and the younger ones may be especially vulnerable to the health impacts of this exposure also considering that they might have a lower i-As methylation capacity than older children. In contrast, seafood consumption did not appear to influence the presence of potentially toxic arsenic species in this population of children., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Background: Results regarding the association between mercury exposure and anthropometry at birth, gestational length and placental weight are inconsistent, as is the role of seafood intake in these associations., Objective: We assessed whether prenatal mercury exposure is associated with anthropometry at birth, placental weight and gestational length in a population with a relatively high exposure to mercury from seafood consumption., Methods: Total mercury (T-Hg) was determined in cord blood from 1869 newborns with birth outcome measures, within the Spanish multicenter INMA cohort from 2004 to 2008. We adjusted cohort specific linear and Cox regression models to evaluate the association between T-Hg and birth anthropometry (weight, length, and head circumference), placental weight and gestational length. Non-spontaneous labor was taken to be censoring in the survival analysis. Final estimates were obtained using meta-analysis., Results: Geometric mean T-Hg was 8.2μg/L. A doubling of T-Hg was associated with a 7.7g decrease in placental weight (95% CI: -13.6, -1.8) and marginally with head circumference (beta: -0.052cm, 95% CI: -0.109, 0.005). T-Hg was also inversely related to weight and length, although with weaker estimates. Mercury exposure was not associated with the length of gestation. The inverse relation between T-Hg and growth was enhanced when the intake of different seafood groups was adjusted for in the models., Conclusions: Prenatal mercury exposure may be associated with reduced placental and fetal growth. Confounding by fish intake should be considered when assessing these relationships., (Copyright © 2016 Elsevier Inc. All rights reserved.)