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.

[Aicardi-Goutieres syndrome: a family case due to alteration of the RNASEH2B gene].

Introduction: Aicardi-Goutieres syndrome is a progressive encephalopathy with onset in the first year of life that conditions psychomotor retardation, microcephaly and pyramidal dysfunction. It has a prevalence of 1-5 in 10,000 newly live births. Most cases have autosomal recessive transmission, due to alteration in seven genes involved in the metabolism of interferon, which causes an increase in its levels in the blood and cerebrospinal fluid, and affects the brain (leukodystrophy, corticosubcortical atrophy, calcifications in the basal ganglia…), the skin and the immune system.

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.

[Treatment of attention-deficit/hyperactivity disorder in clinical practice. A retrospective study].

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.