Problemas sociales: mucha frecuencia, poca formación / Social problems: high frequency, low training

Introducción: la patología social pediátrica en relación con inequidades socioeconómicas, relaciones disfuncionales familiares, inmigración, adicciones, violencia hacia la infancia, etc. va en aumento. El objetivo de este trabajo es analizar su peso en la labor asistencial del pediatra, la descripción de la formación y los conocimientos en ese ámbito, y las razones que dificultan su implicación en estos temas. Metodología: estudio multicéntrico a través de encuesta online cumplimentada por 407 profesionales médicos. Se analizaron 11 problemas en relación con el entorno familiar, escolar, pobreza, inmigración, adicciones y violencia. Resultados: los problemas del entorno familiar o escolar fueron señalados como frecuentes o muy frecuentes por alrededor del 50% de los profesionales; los relacionados con inmigración, acoso y pobreza, por el 20-30%; y los referidos a violencia o adicciones, por menos del 10%. Sin embargo, los porcentajes de formación recibida (y de conocimientos) fueron muy bajos en todos los temas (la mayor formación se aprecia en violencia de género y abuso). Se desglosan los resultados según el ámbito profesional de trabajo (hospitalario o Atención Primaria), el entorno (urbano o rural) y la edad. La mayor dificultad que alegan los profesionales para el abordaje de estos problemas es precisamente la falta de formación. Conclusiones: la patología social infantil está muy presente en la labor diaria del pediatra. Por ello, se precisa una adecuada formación y actualización en esta materia que permita detectar y atender esta patología como el resto de los problemas de la infancia. Se proponen acciones de mejora. (AU)

Introduction: paediatric social disease in relation to socioeconomic inequities, dysfunctional family relationships, immigration, addiction, violence towards children, etc has been increasing. The aim of this paper is to analyse the importance of social disease in paediatric practice and describe the training and knowledge of providers on this subject and the perceived barriers to their involvement in these issues. Methodology: multicentre study by means of an online survey with participation by 407 medical professionals. We analysed 11 social problems related to the family and school environment, poverty, immigration, substance use and violence. Results: problems in the family or school environment were reported as frequent or highly frequent by approximately 50% of the respondents; problems related to immigration, bullying and poverty, by 20-30%; and problems related to violence or addiction by less than 10%. However, the percentage of respondents that reported receiving training (and having knowledge) were very low for all topics (the frequency of training was highest for gender violence and abuse). We analysed the results based on the care setting (hospital or primary care), geographical setting (urban or rural) and age of the provider. The greatest barrier reported by professionals in tackling these problems was precisely the lack of training. Conclusions: paediatricians encounter social disease frequently in their everyday practice. For this reason, adequate and up-to-date training on the subject is required to detect and treat social disease like any other childhood problems. Some improvement strategies are proposed. (AU)

Creación y validación de un instrumento para cuantificar actitudes, conocimientos y dificultades en el abordaje de los problemas sociales / Creation and validation of an instrument to quantify attitudes, knowledge and difficulties in the approach to social problems

Objetivos: Este estudio tiene como objetivo desarrollar y validar un cuestionario para evaluar actitudes, conocimientos y dificultades en el manejo de problemas sociales por parte de los profesionales de pediatría. Métodos: El desarrollo de la herramienta comenzó con una fase de conceptualización, seguida del diseño, prueba piloto y evaluación de las propiedades psicométricas del cuestionario tras obtener respuestas de 407 profesionales. Se realizaron análisis factoriales exploratorios (AFE) y análisis factoriales confirmatorios (AFC) para explorar la validez de constructo del cuestionario. El índice de ajuste normado (IAN), el error cuadrático medio de aproximación (ECMA), la prueba de chi-cuadrado (χ2) y el índice de ajuste comparativo (IAC) se utilizaron para probar la bondad del ajuste. La confiabilidad se exploró a través del alfa de Cronbach para la consistencia interna. Resultados: La AFE identificó doce factores. Todos los factores mostraron buena consistencia interna (alfa de Cronbach 0,8434). El AFC mostró un buen ajuste al modelo (ECMA=0,037). Los valores de IAN y IAC fueron 0,742 y 0,797, respectivamente. Todos los análisis cuantitativos se llevaron a cabo con el software STATA/SE v.16.1. Conclusiones: Este cuestionario de 138 ítems distribuidos en doce factores es un instrumento fiable y válido para analizar actitudes, conocimientos y dificultades en el abordaje de problemas sociales en la infancia por parte de los pediatras, que permitirá diseñar intervenciones, de acuerdo con las necesidades y las carencias identificadas a través del mismo. (AU)

Objectives: The aim of the study was to develop and validate a questionnaire to assess attitudes, knowledge and difficulties in the management of social problems by paediatric care providers. Methods: The development of the tool started with a conceptualization phase, followed by the design, pilot testing and psychometric evaluation of the questionnaire based on the responses obtained from 407 professionals. We performed exploratory factor analysis (EFA) and confirmatory factor analysis (CFA) to assess the construct validity of the questionnaire. We used the normed fit index (NFI), the root mean square error of approximation (RMSEA), the χ2 test and the comparative fit index (CFI) to test the goodness of fit. We assessed reliability through the Cronbach's α coefficient of internal consistency. All quantitative analyses were performed with the Stata/SE software, version 16.1. Results: The EFA identified 12 factors. All factors exhibited a good internal consistency (Cronbach's α, .8434). The CFA showed the model was a good fit (RMSEA=.037). The NAI and CAI values were .742 and .797, respectively. Conclusions: This questionnaire comprising 138 items distributed in 12 factors is a reliable and valid instrument to analyse the attitudes, knowledge and difficulties in the approach to social problems in children by paediatricians, which will allow the design of interventions according to the needs and deficiencies identified through it. (AU)

Creation and validation of an instrument to quantify attitudes, knowledge and difficulties in the approach to social problems.

OBJECTIVES: The aim of the study was to develop and validate a questionnaire to assess attitudes, knowledge and difficulties in the management of social problems by paediatric care providers. METHODS: The development of the tool started with a conceptualization phase, followed by the design, pilot testing and psychometric evaluation of the questionnaire based on the responses obtained from 407 professionals. We performed exploratory factor analysis (EFA) and confirmatory factor analysis (CFA) to assess the construct validity of the questionnaire. We used the normed fit index (NFI), the root mean square error of approximation (RMSEA), the χ2 test and the comparative fit index (CFI) to test the goodness of fit. We assessed reliability through the Cronbach's α coefficient of internal consistency. All quantitative analyses were performed with the Stata/SE software, version16.1. RESULTS: The EFA identified twelve factors. All factors exhibited a good internal consistency (Cronbach's α, 0.8434). The CFA showed the model was a good fit (RMSEA=0.037). The NAI and CAI values were 0.742 and 0.797, respectively. CONCLUSIONS: This questionnaire comprising 138 items distributed in twelve factors is a reliable and valid instrument to analyse the attitudes, knowledge and difficulties in the approach to social problems in children by paediatricians, which will allow the design of interventions according to the needs and deficiencies identified through it.

Mowat-Wilson syndrome: growth charts.

BACKGROUND: Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children. RESULTS: In newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build. CONCLUSIONS: These charts contribute to the understanding of the natural history of MWS and should assist pediatricians and other caregivers in providing optimal care to MWS individuals who show problems related to physical growth. This is the first study on growth in patients with MWS.

Tratamiento del trastorno por déficit de atención con hiperactividad en la práctica clínica habitual: Estudio retrospectivo / Treatment of attention-deficit/hyperactivity disorder in clinical practice. A retrospective study

El trastorno por déficit de atención e hiperactividad (TDAH) es un trastorno del neurodesarrollo complejo y heterogéneo, de carácter crónico, de etiología multifactorial, principalmente debida a factores genéticos y ambientales. Realizamos un estudio analítico retrospectivo del tratamiento de niños diagnosticados de TDAH. Se estudió una muestra de 82 niños diagnosticados de TDAH (74.4% niños y 25.6% niñas). El 96.3% de los casos presentaba algún trastorno asociado. El tratamiento farmacológico fue el tratamiento de elección (90.2%). El 46.0% recibía metilfenidato de liberación inmediata, un 51.4% metilfenidato de liberación sostenida y la atomoxetina solo se recetó en un 2.7% de los casos. El 20.3% de la muestra abandonó en algún momento el tratamiento farmacológico. El tratamiento farmacológico fue la opción más utilizada en nuestra muestra, y el metilfenidato de liberación inmediata el fármaco de elección para inicio del tratamiento. Se utilizan poco las alternativas a los estimulantes. No se encontraron diferencias significativas entre el tipo de tratamiento y el subtipo de TDAH o el género, aunque sí en cuanto a la edad de inicio del tratamiento.

Attention deficit hyperactivity disorder (ADHD) is a complex and heterogeneous neurodevelopmental disorder, of a chronic nature, of multifactorial etiology, mainly due to genetic and environmental factors. We conducted a retrospective analytical study of the t herapeutic management of children diagnosed with ADHD. A sample of 82 children diagnosed with ADHD (74.4% children and 25.6% girls) was studied. 96.3% of the cases presented some associated disorder. Pharmacological treatment was the treatment of choice (90.2%). 46.0% received immediate release methylphenidate, 51.4% sustained release methylphenidate and atomoxetine was only prescribed in 2.7% of patients. 20.3% of the sample abandoned pharmacological treatment at some point. Pharmacological treatment was the most frequent option in our sample, and methylphenidate immediate release the drug of choice for treatment initiation. The alternatives to stimulants are used in very low percentage of the patient. No significant differences were found between the type of treatment regarding the subtype of ADHD or gender, but we found significant difference in relation with the age of onset of treatment.

[Treatment of attention-deficit/hyperactivity disorder in clinical practice. A retrospective study]. / Tratamiento del trastorno por déficit de atención con hiperactividad en la práctica clínica habitual. Estudio retrospectivo.

Attention deficit hyperactivity disorder (ADHD) is a complex and heterogeneous neurodevelopmental disorder, of a chronic nature, of multifactorial etiology, mainly due to genetic and environmental factors. We conducted a retrospective analytical study of the t herapeutic management of children diagnosed with ADHD. A sample of 82 children diagnosed with ADHD (74.4% children and 25.6% girls) was studied. 96.3% of the cases presented some associated disorder. Pharmacological treatment was the treatment of choice (90.2%). 46.0% received immediate release methylphenidate, 51.4% sustained release methylphenidate and atomoxetine was only prescribed in 2.7% of patients. 20.3% of the sample abandoned pharmacological treatment at some point. Pharmacological treatment was the most frequent option in our sample, and methylphenidate immediate release the drug of choice for treatment initiation. The alternatives to stimulants are used in very low percentage of the patient. No significant differences were found between the type of treatment regarding the subtype of ADHD or gender, but we found significant difference in relation with the age of onset of treatment.

El trastorno por déficit de atención e hiperactividad (TDAH) es un trastorno del neurodesarrollo complejo y heterogéneo, de carácter crónico, de etiología multifactorial, principalmente debida a factores genéticos y ambientales. Realizamos un estudio analítico retrospectivo del tratamiento de niños diagnosticados de TDAH. Se estudió una muestra de 82 niños diagnosticados de TDAH (74.4% niños y 25.6% niñas). El 96.3% de los casos presentaba algún trastorno asociado. El tratamiento farmacológico fue el tratamiento de elección (90.2%). El 46.0% recibía metilfenidato de liberación inmediata, un 51.4% metilfenidato de liberación sostenida y la atomoxetina solo se recetó en un 2.7% de los casos. El 20.3% de la muestra abandonó en algún momento el tratamiento farmacológico. El tratamiento farmacológico fue la opción más utilizada en nuestra muestra, y el metilfenidato de liberación inmediata el fármaco de elección para inicio del tratamiento. Se utilizan poco las alternativas a los estimulantes. No se encontraron diferencias significativas entre el tipo de tratamiento y el subtipo de TDAH o el género, aunque sí en cuanto a la edad de inicio del tratamiento.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. To date, no characteristic pattern of brain dysmorphology in MWS has been defined. METHODS: Through brain magnetic resonance imaging (MRI) analysis, we delineated a neuroimaging phenotype in 54 MWS patients with a proven ZEB2 defect, compared it with the features identified in a thorough review of published cases, and evaluated genotype-phenotype correlations. RESULTS: Ninety-six percent of patients had abnormal MRI results. The most common features were anomalies of corpus callosum (79.6% of cases), hippocampal abnormalities (77.8%), enlargement of cerebral ventricles (68.5%), and white matter abnormalities (reduction of thickness 40.7%, localized signal alterations 22.2%). Other consistent findings were large basal ganglia, cortical, and cerebellar malformations. Most features were underrepresented in the literature. We also found ZEB2 variations leading to synthesis of a defective protein to be favorable for psychomotor development and some epilepsy features but also associated with corpus callosum agenesis. CONCLUSION: This study delineated the spectrum of brain anomalies in MWS and provided new insights into the role of ZEB2 in neurodevelopment.Genet Med advance online publication 10 November 2016.

A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.

Creatine transporter (CT) deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. We describe a clinical, biochemical and molecular examination of a child with X-linked cerebral creatine deficiency. Increased urinary creatine/creatinine ratio, abnormal brain proton magnetic resonance spectroscopy and reduced creatine transport confirmed the clinical diagnosis. SLC6A8 analysis revealed a novel mutation that was hemizygous in the child and not detected in his mother. CT deficiency should be considered in children, especially males, with mental retardation.

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.

Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, moderate to severe intellectual disability, corpus callosum abnormalities and other congenital malformations. Epilepsy is considered a main manifestation of the syndrome, with a prevalence of about 70-75%. In order to delineate the electroclinical phenotype of epilepsy in MWS, we investigated epilepsy onset and evolution, including seizure types, EEG features, and response to anti-epileptic therapies in 22 patients with genetically confirmed MWS. Onset of seizures occurred at a median age of 14.5 months (range: 1-108 months). The main seizure types were focal and atypical absence seizures. In all patients the first seizure was a focal seizure, often precipitated by fever. The semiology was variable, including hypomotor, versive, or focal clonic manifestations; frequency ranged from daily to sporadic. Focal seizures were more frequent during drowsiness and sleep. In 13 patients, atypical absence seizures appeared later in the course of the disease, usually after the age of 4 years. Epilepsy was usually quite difficult to treat: seizure freedom was achieved in nine out of the 20 treated patients. At epilepsy onset, the EEGs were normal or showed only mild slowing of background activity. During follow-up, irregular, diffuse frontally dominant and occasionally asymmetric spike and waves discharges were seen in most patients. Sleep markedly activated these abnormalities, resulting in continuous or near-to-continuous spike and wave activity during slow wave sleep. Slowing of background activity and poverty of physiological sleep features were seen in most patients. Our data suggest that a distinct electroclinical phenotype, characterized by focal and atypical absence seizures, often preceded by febrile seizures, and age-dependent EEG changes, can be recognized in most patients with MWS.