Study protocol of translation into Spanish and cross-cultural adaptation and validation of the problem areas in diabetes-Pediatric version (PAID-Peds) survey.

AIM: The metabolic and psychological management of paediatric type 1 diabetes mellitus (T1DM) can be challenging over time given that T1DM may cause a negative emotional burden and, consequently, result in poor metabolic control of the disease. The objectives of this study are to translate the Problem Area in Diabetes Survey-Pediatric version (PAID-Peds) into Spanish, adapt it culturally and validate it. DESIGN: Multicenter cross sectional study. METHODS: 636 patients aged 8-17 years, diagnosed with T1DM, under treatment with insulin and follow-up at the Miguel Servet University Hospital in Zaragoza (Aragón, Spain), the Ramón y Cajal University Clinical Hospital in Madrid (Spain) and at the Sant Joan de Déu Hospital in Barcelona (Catalonia, Spain) between 1 January 2023 and 31 December 2024 will be included. This study will consist of two phases: (1) Translation and cultural adaptation of the original PAID-Peds® survey into Spanish following eight steps; (2) Validation of the Spanish version of the PAIS-Peds® survey. The statistical analysis will be performed using Jamovi® 2.1.23. The reliability or internal consistency will be calculated using Cronbach's alpha index (considering an index higher than 0.8 to be good) and the test-retest will be evaluated using the intraclass correlation coefficient. For validity, confirmatory factor analysis will be calculated. This study has been approved by the ethics and research committees at each centre. RESULTS: The translation and validation into Spanish language of the Problem Area in Diabetes Survey-Pediatric version will be feasible, valid and reliable to detecting the youth-perceived burden of T1DM. Therapeutic education in diabetes-recommended by the WHO and the Diabetes Education Study Group-has shown encouraging results in glycaemia and psychosocial and behavioural factors in T1DM.

Importance of Growth Factors and Bone Maturation Ratio in the Response to Growth Hormone Therapy.

OBJECTIVE: The aim was to identify the influence of insulin-like growth factor I (IGF-1), IGF-binding protein-3 (IGFBP-3), and bone age (BA)/chronological age (CA) ratio on the response to GH therapy after 1 and 2 years of treatment and upon reaching final height. METHODS: Longitudinal, retrospective, observational study of 139 patients treated for idiopathic growth hormone deficiency. Variables examined during follow-up: (1) genetic background; (2) perinatal history; (3) anthropometry; (4) height velocity, BA, BA/CA and height prognosis; (5) analytical results (IGF-1, IGFBP-3). Final response variables: adult height (AH), AH with respect to target height, AH with respect to initial height prognosis, AH with respect to height at the start of treatment, and AH with respect to height at onset of puberty. RESULTS: Lower pretreatment IGF-1 levels and a greater increase in IGF-1 at the end of treatment imply a better response (r = -0.405, P = .007 and r = 0.274, P = .014, respectively), as does a greater increase in IGFBP-3 after 2 years of treatment and at the end of treatment (r = 0.207, P = .035 and r = 0.259, P = .020, respectively). A lower BA/CA ratio pretreatment and at the onset of puberty results in a better response (r = -0.502, P = .000 and r = -0.548, P = .000, respectively), as does a lower increase in BA and BA/CA ratio after the 1 and 2 years of treatment (r = -0.337, P = .000 and r = -0.332, P = .000, respectively). CONCLUSION: Low pretreatment IGF-1, a greater BA delay with respect to CA pretreatment and at the onset of puberty, a greater increase in IGFBP-3 after 2 years of treatment, and a lower increase in BA and BA/CA ratio after 1 and 2 years of treatment imply a better long-term response.

Translation and psychometric evaluation of the Spanish version of the problem areas in diabetes-pediatric version (PAID-Peds) survey.

BACKGROUND: Metabolic control and psychological management of paediatric type 1 diabetes mellitus (T1DM) can be challenging over time. Development of an instrument to assess the youth-reported burden could aid in preventing T1DM-associated diseases. METHODS: The aim of this study was to translate and validate the Spanish version of the Problem Area in Diabetes Survey-Pediatric version (PAID-Peds). A multicentre, cross-sectional translation and linguistic validation study was performed on a sample of 30 participants aged 8-17 years with a minimum 1-year history of T1DM diagnosed at the Miguel Servet University Hospital in Zaragoza (Aragon, Spain), Ramón y Cajal University Clinical Hospital in Madrid (Spain), and Sant Joan de Déu Hospital in Barcelona (Catalonia, Spain). The qualitative validation consisted of translation into Spanish and back-translation into English of the Paid-Peds survey and subsequent administration to the sample population. Data were gathered on parameters related to sociodemographic characteristics and metabolic control. Validity, feasibility, and test-retest reliability were evaluated. Internal consistency was determined using Cronbach's alpha coefficient, test-retest reliability by means of interclass correlation, and paired samples using the Wilcoxon W-test. The study was approved by the ethics and research committees at each participating centre. RESULTS: The study assessed 30 children (46.7% female) with an average age of 13.33 ± 2.98 years; mean age at onset was 5.70 ± 3.62 years, and the mean disease duration was 7.63 ± 4.36 years. The mean score on the PAID-Peds survey was 42.88 ± 17.85. Cronbach's alpha coefficient was 0.90. Test-retest reliability measured by interclass correlation coefficient was 0.8 (95% CI: 0.63-0.90). No significant differences in total scores were found between test and retest (Wilcoxon W-test: 289; p = 0.051). CONCLUSIONS: The Spanish version of the PAID-Peds survey is a feasible, valid, and reliable instrument to assess the youth-perceived burden of T1DM.

Adult height and health-related quality of life in patients born small for gestational age treated with recombinant growth hormone.

Health related quality of life (HRQoL) is a relevant result when assessing the course of different pathologies and the efficacy of their treatments. HRQoL has been studied previously on adults born small for gestational age (SGA), both in the general population and in patients who had received recombinant human growth hormone (rhGH) treatment, with disparate results. Our study included 50 adults who had received rhGH treatment for the SGA indication in 4 Spanish hospitals. Data have been gathered retrospectively from their clinical records, current weight and height were measured, and patients have been asked to fill out SF-36 and QoLAGHDA quality of life forms, and the Graffar test to evaluate their socio-economical status. Patient's adult height was - 1.2 ± 0.9 SD, lower than their target height of 1 ± 0.8 SD, but gaining 1.7 ± 1 SD from the beginning of the treatment. SF-36 test results showed lower scoring on Mental Health domains than on those related to Physical Health. No correlation was found between HRQoL results and final height, rhGH treatment duration or puberty. Correlation was indeed found between QoLAGHDA and several domains of SF-36, but QoLAGHDA detected fewer patients with low HRQoL than SF-36. Thus, it is concluded that SGA patient's follow-up should include a HRQoL, neuro-cognitive and psychiatric assessment in their transition to adult age. Adult SGA patients without catch up growth have impaired HRQoL, especially in mental health domains.

Response to growth hormone treatment in patients with sufficient secretion.

BACKGROUND: There are situations of short stature, with a normal stimulus test for GH, but decreased nocturnal secretion in which there could be a benefit with GH treatment. OBJETIVES: To assess adult height and height gain in patients with neurosecretory dysfunction diagnosis treated with growth hormone. MATERIAL Y METHODS: Longitudinal, retrospective and observational study including 61 patients treated with growth hormone after diagnosis of neurosecretory dysfunction who have already reached adult height. Variables such as adult height gain, growth rate, growth prognosis variation and IGF-I and IGFBP-3 were evaluated. Variables related to a good response in the first year have also been calculated, using the Index of responsiveness (IoR). RESULTS: GH treatment produces an improvement in growth rate and height, observing an increase in adult height with respect to initial height of 1.15±0.60 SD, height with respect to genetic height of -0.015±0.62 SD and adult height with respect to the initial growth prognosis 0,74±1,13 DE. The IoR in the first year is associated with a greater increase in height in the first year (p=0.000), with a greater adult height (p=0.000) and with a greater gain in adult height compared to its initial height (p=0.039). CONCLUSIONS: Patients with growth delay due to neurosecretory dysfunction of GH show a good response to treatment with rhGH, observing a significant height gain in their genetic size and improving their initial growth prognosis.

Digital health for emotional and self-management support of caregivers of children receiving growth hormone treatment: a feasibility study protocol.

BACKGROUND: Caregivers of children undergoing growth hormone treatment often face stress and stigma. In this regard, family-centered approaches are increasingly considered, wherein caregivers' mental wellbeing is taken into account to optimize children's health-related outcomes and behaviors (e.g., treatment adherence). Here, mindfulness and parenting-based programs have been developed to support the mental wellbeing of caregivers and, in turn, promote richer interactions with the children. Nevertheless, this type of program can face drawbacks, such as the scheduling and availability of family members. Recent digital health (DH) solutions (e.g., mobile apps) are showing promising advantages as self-management support tools for improving wellbeing and behaviors related to the treatments. Although, further evidence is necessary in the field of Growth Hormone Treatment (GHt). Accordingly, this study aims to examine the usability of a mobile DH solution and the feasibility of a DH intervention designed to promote emotional and mental wellbeing of caregivers of children undergoing GHt. METHODS: This is a prospective mixed-methods (qualitative-quantitative) exploratory study composed of two sub-studies, including caregivers of children undergoing GHt. Sub-study one (SS1; n = 10) focuses on the usability of the DH solution (detecting potential barriers and facilitators) and an ad hoc semi-structured interview will be administered to the caregivers after using the DH solution for one month. Sub-study two (SS2; n = 55) aims to evaluate the feasibility of the DH intervention on caregivers' perceived distress, positive affectivity, mental wellbeing, self-efficacy, together with the children's quality of life and treatment adherence. All these parameters will be assessed via quantitative methods before and after 3-months of the DH intervention. Usability and engagement will also be assessed during and at the end of the study. RESULTS: It is expected that significant amounts of data will be captured with regards of the feasibility of the DH solution. DISCUSSION: The manuscript provides a complete protocol for a study that will include qualitative and quantitative information about, on one hand, the user-friendliness of the DH solution, and on the other, the effects on caregivers' emotional, as well as, behavioral parameters in terms of the usability and engagement to the DH solution. The findings will contribute to the evidence planning process for the future adoption of digital health solutions for caregiver support and better health-related outcomes. Trial registration ClinicalTrials.gov, ID: NCT04812665.

Automated growth monitoring app (GROWIN): a mobile Health (mHealth) tool to improve the diagnosis and early management of growth and nutritional disorders in childhood.

OBJECTIVE: To assess the functionality and feasibility of the GROWIN app for promoting early detection of growth disorders in childhood, supporting early interventions, and improving children's lifestyle by analyzing data collected over 3 years (2018-2020). METHODS: We retrospectively assessed the growth parameters (height, weight, body mass index [BMI], abdominal circumference) entered by users (caregivers/parents) in the GROWIN app. We also analyzed the potential health problems detected and the messages/recommendations the app showed. Finally, we assessed the possible impact/benefit of the app on the growth of the children. RESULTS: A total of 21 633 users (Spanish [65%], Latin American [30%], and others [5%]) entered 10.5 ± 8.3 measurements (0-15 y old). 1200 recommendations were for low height and 550 for low weight. 1250 improved their measurements. A specialist review was recommended in 500 patients due to low height. 2567 nutrition tests were run. All children with obesity (n = 855, BMI: 27.8 kg/m2 [2.25 SD]) completed the initial test with a follow-up of ≥1 year. Initial results (score: 8.1) showed poor eating habits (fast food, commercially baked goods, candy, etc.), with >90% not having breakfast. After 3-6 months, BMI decreased ≥1 point, and test scores increased ≥2 points. This benefit was maintained beyond 1 year and was correlated with an improvement in BMI (r = -.65, P = .01). DISCUSSION/CONCLUSIONS: The GROWIN app represents an innovative automated solution for families to monitor growth. It allows the early detection of abnormal growth indicators during childhood and adolescence, promoting early interventions. Additionally, in children with obesity, an improvement in healthy nutritional habits and a decrease in BMI were observed.

Perinatal factors influence on the neurocognitive development of children born small for gestational age (SGA) during the first 2 years of life.

BACKGROUND AND OBJECTIVE: Children born small for gestational age (SGA) show higher risk of neurodevelopmental and cognitive abnormalities. The objective of this study is to determine in children born SGA the neurodevelopment during the first 2 years of life and to establish the influence of anthropometric data, gestational age, multiple gestation and perinatal factors. PATIENTS AND METHOD: Observational, prospective, descriptive and analytical study of the neurocognitive assessment performed, with Brunet-Lézine test, on SGA children (n = 91) from 3 to 24 months of age, comparing with own controls. RESULTS: Ninety-one SGA children, 47% girls, 83.5% single pregnancies; mean gestational age 37.7 weeks (standard deviation (SD) 2.1). Weight at birth 2053 g (SD 433.1), length 43.9 cm (SD 2.6) and head circumference 31.7 cm (SD 1.7). The SGA population shows significantly lower neurodevelopment than the control population, with a tendency to improve during the first 2 years of life. There are no differences by sex. SGA children born to multiple gestations have lower neurodevelopment only during the first year of life. There is a direct and positive correlation between weight, length and head circumference with neurocognitive development at 6, 9, 12 and 18 months. Gestational age correlated with better neurodevelopment at 3 and 6 months. CONCLUSIONS: Children born SGA present lower neurodevelopment than the control population. A greater impact on weight, length, and head circumference at birth is correlated with poorer neurocognitive development. Multiparity does not show significant influence on neurodevelopment evolution.

Influence of the SARS-CoV-2 pandemic on paediatric patients with type 1 diabetes mellitus after one year of follow-up.

OBJECTIVES: Lockdown during the SARS-CoV-2 pandemic generated uncertainty regarding its effects on the control of type 1 diabetes (DM1). Our study aims to evaluate the influence of the pandemic on the control of paediatric patients with DM1. METHODS: Longitudinal, retrospective, observational study in patients with DM1 attended between 15/10/2019 and 15/03/2020. Data were collected at that visit and at the three subsequent visits. The second was remote in 50% of cases. The variables analysed were: type of insulin therapy, time in range (TIR), time in hypoglycaemia (THypo), time in hyperglycaemia (THyper), coefficient of variation (CV), glycosylated haemoglobin, insulin requirements and anthropometric data. RESULTS: 157 patients were recruited. At the post-lockdown visit, the TIR increased and the THyper decreased with respect to the first (p<0.00) and second (p<0.00) visits. Patients treated with subcutaneous infusion showed a higher TIR at the third visit (p=0.03) and lower insulin requirements at the fourth visit (p=0.03) compared to patients treated with multiple doses. Patients with a remote visit presented a higher TIR (p<0.00), a lower THyper (p=0.00) and lower insulin requirements (p=0.01) at the next visit. Patients aged less than 6 years presented a lower glycosylated haemoglobin (p=0.01) and insulin requirements at the third (p=0.03) and fourth (p=0.01) visits, and a lower increase in body mass index (p=0.03) over the year. CONCLUSIONS: Metabolic control improved at the post-lockdown visit. Patients treated with subcutaneous infusion, those who had a remote visit during strict lockdown and those aged less than 6 years had a better evolution.

Growth hormone deficit: Influence of puberty on the response to treatment.

INTRODUCTION: Short stature is the most frequent reason for consultation in Pediatric Endocrinology consultations and sometimes requires treatment with growth hormone. The aim of the study was to analyze the response to treatment based on its onset in pubertal or prepubertal stages and to analyze the possible benefit of an early onset. PATIENTS AND METHODS: Longitudinal, retrospective and observational study in 139 patients treated for idiopathic growth hormone deficiency up to adult height. MAIN VARIABLES STUDIED: (a) genetic background: maternal, paternal and genetic height; (b) perinatal history; (c) anthropometry during follow-up and at pubertal onset: weight, height, body mass index; (d) variables during follow-up and at pubertal onset: growth rate, bone age and growth prognosis. Final response variables: adult height, adult height with respect to target height, adult height with respect to initial growth prediction, adult height with respect to initial height at the start of treatment and adult height with respect to height at pubertal onset. RESULTS: Total pubertal gain was 0.84 ± 0.6 SD. 61.9% of the patients started treatment with rhGH in prepuberty. The initiation of treatment in the prepubertal stage and a higher total pubertal gain are correlated with a better final height (P = 0.001 and r = 0.507, P = 0.00, respectively). Furthermore, a longer duration of treatment in pre-puberty is correlated with a better final response (r = 0.328, P = 0.00). CONCLUSIONS: The start of treatment in the prepubertal stage and its longer duration during this period are determining factors to achieve a good long-term response. Total pubertal gain was greater in patients who started treatment in the pubertal stage.

Growth hormone deficit. Does the first year of treatment influence adult height?

INTRODUCTION: Short stature is the most frequent reason for Pediatric Endocrinology consultations and sometimes requires treatment with growth hormone. OBJECTIVE: The possible correlation of a good response to any early response factor with a better final response was studied, and also whether there was a difference in response to treatment according to the type of deficit. PATIENTS AND METHODS: This was a longitudinal, retrospective and observational study of 139 patients treated for idiopathic growth hormone deficiency up to adult height. There were good response criteria in the first year of treatment: a) an increase in growth rate ≥3 cm/year, b) a growth rate ≥1 standard deviation (SD), c) an increase in height ≥0.5 SD, d) an increase in height ≥0.3 SD. Study of the Index of Responsiveness to treatment in the first and second year. Final response variables: adult height with respect to target height, adult height with respect to initial growth prediction and adult height with respect to initial height at the start of treatment. The possible correlation of a good response to any of the early response factors with a better final response to treatment was studied, and also whether there was a difference in the response to treatment according to the type of deficit. RESULTS: The treatment produced a gain in adult height with respect to genetic height of 0.06 ±â€¯0.7 SD. Patients considered good responders in the first year of treatment presented a better final response (growth rate ≥3 cm: p = 0.000, growth rate ≥1 SD: p = 0.008, height gain ≥0.5 SD: p = 0.007, height gain ≥0.3 SD: p = 0.006), as well as patients with a severe deficit (p = 0.04). The index of responsiveness to treatment during the first year was associated with a better final response (r = 0.249, p = 0.003), with this correlation being maintained in the second year (r = 0.294, p = 0.01). CONCLUSIONS: Growth hormone treatment increased height in the genetic target. The percentage of good responders varied depending on the criteria used. The response in the first year of treatment and a severe deficit were determining factors for achieving a good long-term response.

Déficit de vitamina D en una población pediátrica sana. La importancia de una adecuada profilaxis / Vitamin D insufficiency in a healthy pediatric population. The importance of early prophylaxis

Introducción: la vitamina D mantiene la concentración de calcio y fósforo dentro del rango fisiológico, permitiendo un metabolismo normal y la correcta mineralización de los huesos. Recientemente, la deficiencia de vitamina D se ha relacionado no solo con el raquitismo sino también con el aumento del riesgo de otras patologías. El objetivo de este estudio descriptivo, observacional y transversal fue conocer los niveles de concentración de vitamina D en una población pediátrica sana y la situación actual en cuanto a la profilaxis. La determinación de la vitamina D se midió mediante la concentración sérica de 25-hidroxivitamina D (25(OH)D). Material y métodos: se inscribieron 258 pacientes sanos de entre 3 meses y 15 años (6,77 ± 3,95 años; 73,6 % de hombres). Resultados: el valor medio de 25(OH)D fue de 26,60 ng/ml ± 8,02 ng/ml; el 20,9 % de la población mostró un nivel insuficiente. Se observaron diferencias estadísticamente significativas entre los niveles de vitamina D de las distintas edades (p = 0,002), grupos étnicos (p = 0,038) y fototipos (p = 0,000). Además, se observó una mayor prevalencia de la insuficiencia de vitamina D en los niños que nunca antes habían recibido suplementos de vitamina D (41,6 %) en comparación con los que habían tomado suplementos en el primer año de vida (16,7 %). Conclusiones: el presente estudio muestra una alta prevalencia del déficit de vitamina D en los niños sanos y el beneficio de una correcta profilaxis en edades tempranas con suplementos de vitamina D. (AU)

Introduction: vitamin D maintains the concentration of calcium and phosphorus within the physiological range, allowing normal metabolism and bone mineralization. Recently, vitamin D deficiency has been related not only with rickets but also with an increased risk of other pathologies. The aim of this descriptive, observational, cross-sectional study was to assess vitamin D concentration levels in a healthy pediatric population, as well as the current situation of prophylaxis. Vitamin D determination was measured by serum 25-hydroxyvitamin D (25(OH)D) concentration. Material and methods: a total of 258 healthy patients between 3 months and 15 years of age were enrolled (6.77 ± 3.95 years; 73.6 % were male). Results: the mean value of 25-hydroxyvitamin D was 26.60 ng/mL ± 8.02 ng/mL, and up to 20.9 % of the population showed insufficient levels. Statistically significant differences in vitamin D levels were observed between ages (p = 0.002), ethnicity groups (p = 0.038), and skin types (p = 0.000). In addition, a higher prevalence of vitamin D insufficiency in children who had never previously received vitamin D supplementation (41.6 %) was observed compared to those that had taken supplementation in the first year of life (16.7 %). Conclusion: our study shows a high prevalence of vitamin D deficiency among healthy children, and the benefit of prophylaxis with vitamin D supplementation. (AU)

Perinatal factors influence on the neurocognitive development of children born small for gestational age (SGA) during the first 2 years of life. / Influencia de factores perinatales en el desarrollo neurocognitivo de niños nacidos pequeños para la edad gestacional durante los primeros 2 años de vida.

BACKGROUND AND OBJECTIVE: Children born small for gestational age (SGA) show higher risk of neurodevelopmental and cognitive abnormalities. The objective of this study is to determine in children born SGA the neurodevelopment during the first 2 years of life and to establish the influence of anthropometric data, gestational age, multiple gestation and perinatal factors. PATIENTS AND METHOD: Observational, prospective, descriptive and analytical study of the neurocognitive assessment performed, with Brunet-Lézine test, on SGA children (n=91) from 3 to 24 months of age, comparing with own controls. RESULTS: Ninety-one SGA children, 47% girls, 83.5% single pregnancies; mean gestational age 37.7 weeks (standard deviation [SD] 2.1). Weight at birth 2,053g (SD 433.1), length 43.9cm (SD 2.6) and head circumference 31.7cm (SD 1.7). The SGA population shows significantly lower neurodevelopment than the control population, with a tendency to improve during the first 2 years of life. There are no differences by sex. SGA children born to multiple gestations have lower neurodevelopment only during the first year of life. There is a direct and positive correlation between weight, length and head circumference with neurocognitive development at 6, 9, 12 and 18 months. Gestational age correlated with better neurodevelopment at 3 and 6 months. CONCLUSIONS: Children born SGA present lower neurodevelopment than the control population. A greater impact on weight, length, and head circumference at birth is correlated with poorer neurocognitive development. Multiparity does not show significant influence on neurodevelopment evolution.

[Vitamin D insufficiency in a healthy pediatric population. The importance of early prophylaxis]. / Déficit de vitamina D en una población pediátrica sana. La importancia de una adecuada profilaxis.

INTRODUCTION: Introduction: vitamin D maintains the concentration of calcium and phosphorus within the physiological range, allowing normal metabolism and bone mineralization. Recently, vitamin D deficiency has been related not only with rickets but also with an increased risk of other pathologies. The aim of this descriptive, observational, cross-sectional study was to assess vitamin D concentration levels in a healthy pediatric population, as well as the current situation of prophylaxis. Vitamin D determination was measured by serum 25-hydroxyvitamin D (25(OH)D) concentration. Methods: a total of 258 healthy patients between 3 months and 15 years of age were enrolled (6.77 ± 3.95 years; 73.6 % were male). Results: the mean value of 25-hydroxyvitamin D was 26.60 ng/mL ± 8.02 ng/mL, and up to 20.9 % of the population showed insufficient levels. Statistically significant differences in vitamin D levels were observed between ages (p = 0.002), ethnicity groups (p = 0.038), and skin types (p = 0.000). In addition, a higher prevalence of vitamin D insufficiency in children who had never previously received vitamin D supplementation (41.6 %) was observed compared to those that had taken supplementation in the first year of life (16.7 %). Conclusion: our study shows a high prevalence of vitamin D deficiency among healthy children, and the benefit of prophylaxis with vitamin D supplementation.

INTRODUCCIÓN: Introducción: la vitamina D mantiene la concentración de calcio y fósforo dentro del rango fisiológico, permitiendo un metabolismo normal y la correcta mineralización de los huesos. Recientemente, la deficiencia de vitamina D se ha relacionado no solo con el raquitismo sino también con el aumento del riesgo de otras patologías. El objetivo de este estudio descriptivo, observacional y transversal fue conocer los niveles de concentración de vitamina D en una población pediátrica sana y la situación actual en cuanto a la profilaxis. La determinación de la vitamina D se midió mediante la concentración sérica de 25-hidroxivitamina D (25(OH)D). Material y métodos: se inscribieron 258 pacientes sanos de entre 3 meses y 15 años (6,77 ± 3,95 años; 73,6 % de hombres). Resultados: el valor medio de 25(OH)D fue de 26,60 ng/ml ± 8,02 ng/ml; el 20,9 % de la población mostró un nivel insuficiente. Se observaron diferencias estadísticamente significativas entre los niveles de vitamina D de las distintas edades (p = 0,002), grupos étnicos (p = 0,038) y fototipos (p = 0,000). Además, se observó una mayor prevalencia de la insuficiencia de vitamina D en los niños que nunca antes habían recibido suplementos de vitamina D (41,6 %) en comparación con los que habían tomado suplementos en el primer año de vida (16,7 %). Conclusiones: el presente estudio muestra una alta prevalencia del déficit de vitamina D en los niños sanos y el beneficio de una correcta profilaxis en edades tempranas con suplementos de vitamina D.

[Growth hormone deficit: Influence of puberty on the response to treatment]. / Déficit de hormona de crecimiento: influencia de la pubertad en la respuesta al tratamiento.

INTRODUCTION: Short stature is the most frequent reason for consultation in Pediatric Endocrinology consultations and sometimes requires treatment with growth hormone. The aim of the study was to analyze the response to treatment based on its onset in pubertal or prepubertal stages and to analyze the possible benefit of an early onset. PATIENTS AND METHODS: Longitudinal, retrospective and observational study in 139 patients treated for idiopathic growth hormone deficiency up to adult height. MAIN VARIABLES STUDIED: (a) genetic background: maternal, paternal and genetic height; (b) perinatal history; (c) anthropometry during follow-up and at pubertal onset: weight, height, body mass index; (d) variables during follow-up and at pubertal onset: growth rate, bone age and growth prognosis. Final response variables: adult height, adult height with respect to target height, adult height with respect to initial growth prediction, adult height with respect to initial height at the start of treatment and adult height with respect to height at pubertal onset. RESULTS: Total pubertal gain was 0.84±0.6 SD. 61.9% of the patients started treatment with rhGH in prepuberty. The initiation of treatment in the prepubertal stage and a higher total pubertal gain are correlated with a better final height (P=.001 and r=0.507, P=.00, respectively). Furthermore, a longer duration of treatment in pre-puberty is correlated with a better final response (r=0.328, P=.00). CONCLUSIONS: The start of treatment in the prepubertal stage and its longer duration during this period are determining factors to achieve a good long-term response. Total pubertal gain was greater in patients who started treatment in the pubertal stage.

Growth hormone deficit. Does the first year of treatment influence adult height? / Déficit de hormona de crecimiento, ¿influye el primer año de tratamiento en la talla final?

INTRODUCTION: Short stature is the most frequent reason for Pediatric Endocrinology consultations and sometimes requires treatment with growth hormone. OBJECTIVE: The possible correlation of a good response to any early response factor with a better final response was studied, and also whether there was a difference in response to treatment according to the type of deficit. PATIENTS AND METHODS: This was a longitudinal, retrospective and observational study of 139 patients treated for idiopathic growth hormone deficiency up to adult height. There were good response criteria in the first year of treatment: a) an increase in growth rate≥3cm / year, b) a growth rate≥1 standard deviation (SD), c) an increase in height≥0.5 SD, d) an increase in height≥0.3 SD. Study of the Index of Responsiveness to treatment in the first and second year. Final response variables: adult height with respect to target height, adult height with respect to initial growth prediction and adult height with respect to initial height at the start of treatment. The possible correlation of a good response to any of the early response factors with a better final response to treatment was studied, and also whether there was a difference in the response to treatment according to the type of deficit. RESULTS: The treatment produced a gain in adult height with respect to genetic height of 0.06±0.7 SD. Patients considered good responders in the first year of treatment presented a better final response (growth rate≥3cm: p=0.000, growth rate≥1 SD: p=0.008, height gain≥0.5 SD: P=0.007, height gain≥0.3 SD: P=0.006), as well as patients with a severe deficit (P=0.04). The index of responsiveness to treatment during the first year was associated with a better final response (r=0.249, P=0.003), with this correlation being maintained in the second year (r=0.294, P=0.01). CONCLUSIONS: Growth hormone treatment increased height in the genetic target. The percentage of good responders varied depending on the criteria used. The response in the first year of treatment and a severe deficit were determining factors for achieving a good long-term response.

Impact of adherence on growth response during the first 2 years of growth hormone treatment.

PURPOSE: Adherence to growth hormone (GH) treatment impacts clinical outcomes. The aim of this study is to assess the impact of adherence to rhGH treatment (2 years) on auxological outcomes. METHODS: Multicentric, retrospective observational study in rhGH-naïve GHD/SGA children treated with Saizen® during ≥2 years. Growth response was assessed by evaluating the change in height standard deviation score (ΔH SDS) and the index of responsiveness (IoR). Adherence was monitored using EasyPod™ Connect device. RESULTS: A total of 110 patients (3 Spanish centers) were evaluable (GHD n = 76, SGA n = 34). Adherence was 95.6 and 93.9% (year 1, 2). SGA and GHD children showed an increase of 0.6 cm/year and 1.1 cm/year for each 10% adherence modification. Lower adherence was observed in patients with lower pretreatment height velocity (HV) and in patients whose parents had a lower level of education. A positive correlation between index of responsiveness (IoR) during the first and second years with HV SDS during the second year and between IoR2 and adherence (year 1, 2) was observed. The frequency of patients with HV > 1 SD was higher (p = 0.025) among patients with adherence >90%. The best model to predict the height gain(cm) reaching an adjusted R squared of 0.489 involved percentage of adherence, Tanner stage, pretreatment HV, dose of rhGH, and whether the treatment was initiated before or after puberty. CONCLUSIONS: Adherence during the first 2 years of response was very high >90% and showed a negative association with age, pretreatment HV and treatment duration and a positive correlation with the level of parent education.

Osteogenesis imperfecta: Review of 40 patients. / Osteogénesis imperfecta: análisis de 40 pacientes.

INTRODUCTION: Osteogenesis imperfecta (OI) is a heterogeneous genetic disease manifesting as bone fragility and fractures. PATIENTS AND METHODS: Retrospective descriptive study analysing clinical and genetic features, and treatment of patients with OI. RESULTS: Forty patients were included; 32.5% males, 67.5% females; 29 children, 11 adults. Number of fractures at diagnosis with mild OI was 4.6±6.4 (average age at diagnosis 7.8±12.8years), with moderate OI 1.7±2.4 (age at diagnosis .04±.3years), in severe OI 3.7±2.1 and in extremely severe forms 12.5±7.8, both groups diagnosed at birth. Genetic study in 32 patients, 25 with a positive genetic study (pathogenic/probably pathogenic variant). COL1A1 gene was the most frequently affected. In 7 patients, no pathogenic or probably pathogenic variant was found (5 diagnosed by biochemical study of typeI collagen). Nineteen patients were treated with bisphosphonates; 7 combined with growth hormone. The patients treated with bisphosphonates showed clinical improvement (reduction of bone pain and/or irritability) and reduction of fractures. CONCLUSIONS: The COL1A1 gene is the most frequently affected. OI patients should receive multidisciplinary management and bisphosphonates can improve their quality of life.