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Resumen Introduccion Existe controversia acerca de los criterios DSM-5 para el diagnostico de los trastornos del espectro autista (TEA). En la literatura encontramos resultados discrepantes, siendo el objetivo del estudio determinar la sensibilidad y la especificidad de los criterios DSM-5 para TEA en ninos y adolescentes espanoles. Tambien se determinara la estabilidad del diagnostico al pasar del DSM-IV-TR al DSM-5 y las diferencias clinicas entre TEA y trastorno de la comunicacion social (TCS). Material y metodos El estudio se llevo a cabo en 2017, revisando las historias clinicas de los pacientes evaluados en nuestro servicio. Los items de la entrevista diagnostica para el autismo (Autism Diagnostic Interview-Revised) se ajustaron al DSM-5 y se utilizaron para evaluar la sensibilidad y la especificidad de dicho manual. Resultados La sensibilidad del DSM-5 fue de 0,69-1,00, mayor para el genero femenino, sin diferencias con respecto a la edad y menor para los pacientes con bajo funcionamiento. La especificidad fue de 0,64-0,73. Respecto a la estabilidad, el 83,3% de los casos de autismo diagnosticados con el DSM-IV-TR mantuvieron el diagnostico siguiendo los criterios del DSM-5. En cuanto a las diferencias entre los pacientes diagnosticados de TEA y los diagnosticados de TCS, cabe mencionar que los primeros requirieron mas tratamientos farmacologicos durante su evolucion. Conclusiones Se necesitan mas estudios centrados en el diagnostico de TCS para determinar si la evolucion es diferente a la de los pacientes diagnosticados de TEA. Tambien sera necesario confeccionar nuevas herramientas diagnosticas y terapeuticas para los pacientes con diagnostico de TCS.

Una de cada tres personas con autismo presentaría el llamado autismo grave. No existe una definición estandarizada para el autismo grave, pero el término se suele utilizar para aquellas personas que apenas tienen noción del lenguaje, asociado a una disminución de la capacidad cognitiva y que pueden llevar a cabo las tareas de la vida cotidiana con dificultad. A pesar de la mayor visibilización del autismo en la sociedad y de las iniciativas para mejorar la atención que recibe, no se está desarrollando el conocimiento sobre autismo grave. Así, es preciso estimular la investigación sobre prevalencia, buenas prácticas y tratamientos con el objetivo de mejorar las políticas dirigidas a esta población que fomenten recursos de soporte e intervenciones eficaces en todos los entornos.

To analyze liver function tests (LFT), weight, metabolic syndrome (MetS) and at risk of meeting MetS criteria (AR-MetS) in children and adolescents on antipsychotics (AP) during a year-long follow-up.Two hundred sixteen patients, AP naïve or quasi-naïve (30 days on AP), were included. Total bilirubin, the enzymes aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), weight and other parameters of MetS were measured at baseline, and at 3, 6 and 12 months, while patients remained on the same AP.At baseline, patients (mean age: 14.1 ± 3.1 years; 60.2% male) were on risperidone (N = 143), olanzapine (N = 37), or quetiapine (N = 36), although the sample decreased over time to 67 patients at 12 months (risperidone N = 46, olanzapine N = 10, and quetiapine N = 11). Around 3% of patients had ALT/AST levels that were at least twice the upper limit of normal (ULN) at 3 and 6 months; whereas roughly 19% of patients had ALP levels that were at least twice the ULN in at least one assessment after baseline, but had no clinical symptoms. From baseline to 6 months, significant increases were observed in ALT levels in the whole sample (p = 0.005), whereas ALP increased only in patients on risperidone. Patients showed significant weight gain, and more individuals met criteria for MetS and AR-MetS over time (from baseline: 2.8% and 8.3%, to 1 year: 10.5% and 23.9%, respectively). There was a trend-level group effect in global ALT across time (p = 0.076). Patients with MetS showed higher ALT concentrations (28.9 [18.4-39.4] U/L) than AR-MetS (20.4 [8.5-32.2] U/L), and no-AR-MetS (19.2 [8.4-29.9] U/L).Less than 3% of children and adolescents on AP during 1-year follow-up showed an increase in ALT or AST levels in one or more of the assessments, and none of these increases was of clinical significance. Patients with MetS and AR-MetS increased during this period, and the possible role of ALT levels to monitor these patients deserves further study.

Autism spectrum disorders (ASD) include a range of complex neurodevelopmental disorders with extreme genetic heterogeneity. Exome and target sequencing studies have shown to be an effective tool for the discovery of new ASD genes. The aim of this study was to design an ASD candidate gene panel that covers 44 of the top ASD candidate genes. As a pilot study we performed comprehensive molecular diagnostic testing, including the study of the FMR1 and FMR2 repeat regions, copy number variant analysis in a collection of 50 Spanish ASD cases and mutation screening using targeted next generation sequencing-based techniques in 44 out of the total cohort. We evaluated and clinically selected our cohort, with most of the cases having high functioning ASD without facial dysmorphic features. The results of the present study allowed the detection of copy number and single nucleotide variants not yet identified. In addition, our results underscore the difficulty of the molecular diagnosis of ASD and confirm its genetic heterogeneity. The information gained from this and other genetic screenings is necessary to unravel the clinical interpretation of novel variants.

Background Controversy exists regarding the DSM-5 criteria for autism spectrum disorders (ASD). Given the mixed results that have been reported, our main aim was to determine DSM-5 sensitivity and specificity in a child and adolescent Spanish sample. As secondary goals, we assessed the diagnostic stability of DSM-IV-TR in DSM-5, and clinical differences between children diagnosed with an ASD or a social (pragmatic) communication disorder (SPCD). Methods This study was carried out in 2017, reviewing the medical records of patients evaluated in our service. Items from a parent report measure of ASD symptoms (Autism Diagnostic Interview-Revised) were matched to DSM-5 criteria and used to assess the sensitivity and specificity of the DSM-5 criteria and current DSM-IV criteria when compared with clinical diagnoses. Results DSM-5 sensitivity ranged from .69 to 1.00, and was higher in females. By age, the DSM-5 and DSM-IV-TR criteria showed similar sensitivity. In the case of intellectual quotient, DSM-5 criteria sensitivity was lower for those in the “low-functioning” category. DSM-5 specificity ranged from .64 to .73, while DSM-5 specificity was similar for all phenotypic subgroups. With respect to stability, 83.3% of autism disorder cases retained a diagnosis of ASD using the DSM-5 criteria. With regard to differences between ASD and SPCD, we found that patients diagnosed with ASD received more pharmacological treatment than those diagnosed with SPCD. Conclusions Further research is required to confirm our results. Studies focusing on the SPCD phenotype will be necessary to determine outcome differences with ASD and the most effective diagnostic and therapeutic tools.

Prescriptions of antipsychotic drugs (AP) in children and adolescents have significantly increased in Europe as well as in the United States. However, there is limited evidence of the cardiac safety of second-generation antipsychotics (SGA) in the pediatric population.The aim of the study is to evaluate the cardiac side effects of SGA in children and adolescents, and how they are influenced by clinical, demographic, and treatment factors.This article presents a naturalistic, longitudinal, multicenter study conducted in 216 treatment-naïve or quasi-naïve children and adolescents receiving AP treatment. It analyzed the possible influence of AP treatment on variables such as corrected QT (QTc) intervals and heart rate for a period of 12 months (baseline, 3 months, 6 months, and 12 months). Differences among the three main prescribed drugs used in the sample (risperidone, quetiapine, and olanzapine) were assessed.A total of 211 received one of the three most prescribed AP (quetiapine, risperidone or olanzapine). There were no significant QTc variations in the sample during follow-up (p = 0.54). There were no differences in QTc rates between the different SGA (risperidone-olanzapine p = 0.43; risperidone-quetiapine p = 0.42; olanzapine-quetiapine p = 0.23). When demographic, clinical, or concomitant treatment variables were considered, only baseline overweight correlated with QTc prolongation (p = 0.003). The heart rate in the whole sample tended to decrease during follow-up (p = 0.054). However, patients on quetiapine showed increased heart rate compared with those on risperidone (p = 0.04).In this sample, SGA seem to have a safe heart side effect profile in the child and adolescent population. There was no observed mean increase in QTc or in heart rate.

The prescribing of anti-psychotic drugs has become a normal clinical practice.This article presents a longitudinal, multicentre study of 12 months conducted on 266 children and adolescents who were prescribed a first or second generation antipsychotic drug for the first time, and the baseline results of the study. The follow-up protocol had as its purpose to detect the possible appearance of metabolic, cardiological, and motor changes.When the presence of side effects was evaluated using the UKU (clinical side-effects scale) statistically significant differences were found between naive (patients who had never taken an anti-psychotic drug) and quasi-naive patients (those who have taken anti-psychotic drugs for a period of less than 30 days), with a greater number of the latter showing symptoms of: anxiety/laxity/tiredness (P=.0049), drowsiness/sedation (P.001), increase in dream duration (P.001), increase in dreams (P=.0199), emotional indifference (P=.0194), hypokinesia/akinesia (P=.0224), paresthesias (P=.0049), accommodation disorder (P=.0254), increase in salivation (P.001), polyuria/polydipsia (P=.0076), increase in sweating (P=.0076), increase in sexual desire (P=.0117), decrease in sexual desire (P=.0053), tension headaches (P=.0405). When the presence of extrapyramidal symptoms was assessed using the MPRC-IMS (Maryland Psychiatry Research Center-Involuntary Movements) Scale, it was observed that the quasi-naïve patients had a statistically higher number of dyskinesia (P=.002), Parkinsonism (P=.0004) and akathisia (P=.0437) symptoms compared to the naïve patients.These results show that, in the childhood-adolescent population, the presence of secondary effects begins to be observed from the first dose of the antipsychotic drug.

Resumen Introduccion La prescripcion de farmacos antipsicoticos en ninos y adolescentes se ha convertido en una practica habitual. Metodos Este articulo presenta el diseno de un estudio multicentrico longitudinal a 12 meses con 266 ninos y adolescentes a los que se les prescribio por primera vez un antipsicotico de primera o segunda generacion y los resultados basales del estudio. El protocolo de seguimiento tuvo como finalidad detectar la posible aparicion de cambios metabolicos, cardiologicos y motores. Resultados Cuando se valoro la presencia de efectos secundarios a traves de la UKU (Udvalg fur Kliniske Undersogelser) se encontraron diferencias estadisticamente significativas entre pacientes naive (pacientes incluidos que nunca habian tomado antipsicotico) y quasi-naive (aquellos que habian tomado antipsicoticos durante un periodo inferior a 30 dias), mostrando un mayor numero de estos ultimos sintomas de: ansiedad/laxitud/fatigabilidad (p = 0,0049), somnolencia/sedacion (p Conclusiones Estos resultados ponen de manifiesto que en poblacion infanto-juvenil, la presencia de efectos secundarios se comienza a observar ya desde el inicio de la toma de farmacos antipsicoticos.

To analyze weight gain, metabolic hormones, and homocysteine (Hcys) levels in children and adolescents on antipsychotics (AP) during a year-long follow-up. 117 patients, AP-naive or quasi-naive (less than 30 days on AP), were included. Weight, body mass index (BMI), BMI z-score (z-BMI), and levels of leptin, insulin, insulin resistance (HOMA-IR), adiponectin, ghrelin, thyroid stimulating hormone (TSH), free thyroxine (FT4), and Hcys were measured at baseline, and at 3, 6, and 12 months, while patients remained on the same AP. Patients (mean age: 14.4 ± 3 years; 64.1 % male) were on risperidone (N = 84), olanzapine (N = 20) or quetiapine (N = 13) from baseline up to 1-year follow-up and significantly increased weight (5.8 ± 4.3 kg at 3-month, 8.1 ± 6.1 kg at 6-month, and 11.6 ± 7.0 kg at 1 year), BMI, and z-BMI. Leptin levels significantly increased from baseline to 3 and 6 months, as did TSH levels from baseline to 3 months, while FT4 levels decreased from baseline to 3 and 6 months. Patients with BMI >85th percentile at baseline (N = 16) significantly increased weight, BMI, and z-BMI, more than patients with normal BMI over time. Higher baseline levels of insulin, HOMA-IR, and leptin were associated with increased weight/BMI during follow-up, while higher baseline levels of FT4, adiponectin, and ghrelin were associated with lower weight/BMI during follow-up. All AP were associated with increased weight and BMI/z-BMI in all of the assessments; however, at 1-year assessment, this increase was significantly higher for patients on quetiapine. Both higher baseline levels of insulin, HOMA-IR, and leptin, as well as being overweight/obese at baseline were associated with increased weight/BMI during 1-year follow-up in children and adolescents on AP. Awareness of weight-related parameters in this population may help inform decisions regarding AP prescriptions.

The objective of this study was to analyze the initial treatment with antipsychotics (APs) and its changes during the first year of treatment in patients visited in specialized child and adolescent psychiatry departments.Participants were 265 patients, aged 4 to 17 years, who attended consecutively at 4 different centers and were naive of AP or quasi-naive (less than 30 days since the beginning of AP treatment). Type of AP, dosage, and concomitant medication were registered at baseline, 1, 3, 6, and 12 months after beginning the treatment with AP.At baseline, the patients' mean age was 14.4 (2.9) years, and 145 (54.7%) patients were males. Antipsychotics were more prescribed in the following: schizophrenia spectrum disorders (30.2%), disruptive behavior disorders (DBDs) (18.9%), bipolar disorders (14.3%), depressive disorders (12.8%), and eating disorders (11.7%). A total of 93.2% of the patients were on an off-label indication of AP. Risperidone was the AP most prescribed in all the assessments, but differences were observed in the type of AP according to diagnosis. Thus, risperidone was significantly most prescribed in patients with DBD and olanzapine was most prescribed in patients with eating disorders. Olanzapine and quetiapine were the second-generation APs (SGAs) most prescribed after risperidone, and haloperidol was the most prescribed first-generation AP. Up to 8.3% of patients during the follow-up were on AP polypharmacy. Almost 16% patients had a change in its AP treatment during the follow-up, and the main switch was from one SGA to another.Second-generation APs were the APs most prescribed in our sample and approximately 93% of the patients used AP off-label. Risperidone was the most common AP used above all in patients with DBD, whereas olanzapine was most prescribed in patients with eating disorders. Antipsychotic polypharmacy and switch rates were low during the follow-up.