Del DSM-IV-TR al DSM-5: análisis de algunos cambios

La publicación de la quinta edición del DSM ha avivado un debate iniciado tiempo atrás, desde el anuncio de los cambios en los criterios de diagnóstico propuestos por la APA. En este artículo se analizan algunas de estas modificaciones. Se plantean aspectos interesantes y acertados, como la inclusión de la dimensionalidad tanto en las clases diagnósticas como en algunos trastornos, la incorporación de un espectro obsesivo-compulsivo o la desaparición de los subtipos de esquizofrenia. También se analizan otros aspectos más controvertidos como la consideración del síndrome de psicosis atenuada, la descripción de un trastorno depresivo persistente, la reordenación en trastornos de síntomas somáticos los clásicos trastornos somatoformes, o el mantenimiento de los tres grandes grupos de trastornos de la personalidad,siempre insatisfactorios, junto con un planteamiento anunciado, pero marginal, de la perspec-tiva dimensional de las alteraciones de la personalidad. La nueva clasificación del DSM-5 abrenumerosos interrogantes acerca de la validez que se pretende mejorar en el diagnóstico, enesta ocasión, asumiendo un planteamiento más cercano a la neurología y la genética que a lapsicopatología clínica.The publication of the fifth edition of the DSM has intensified a debate begun some time agowith the announcement of the changes in diagnostic criteria proposed by the APA. This article analyzes some of these modifications. Some interesting points where it is right, such as the inclusion of dimensionality in both diagnostic classes and in some disorders, the inclusion of an obsessive-compulsive spectrum, and the disappearance of subtypes of schizophrenia. It also analyzes other more controversial points, such as the consideration of the attenuated psychosis syndrome, the description of a persistent depressive disorder, reorganization of the classic somatoform disorders as somatic symptom disorders, or maintenance of three large clusters of personality disorders, always unsatisfactory, along with an announced, but marginal, suggestion of the dimensional perspective of personality impairments. The new DSM-5 classification opens many questions about the diagnostic validity which it attempts to improve, this time taking an approach nearer to neurology and genetics than to clinical psychology

Diagnostic implications of genetic copy number variation in epilepsy plus

Objective Copy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of existing data is essential. Reliable estimates of the contribution of CNVs to epilepsies from sizeable populations are not available. Methods We assembled a cohort of 1255 patients with preexisting array comparative genomic hybridization or single nucleotide polymorphism array based CNV data. All patients had "epilepsy plus," defined as epilepsy with comorbid features, including intellectual disability, psychiatric symptoms, and other neurological and nonneurological features. CNV classification was conducted using a systematic filtering workflow adapted to epilepsy. Results Of 1097 patients remaining after genetic data quality control, 120 individuals (10.9%) carried at least one autosomal CNV classified as pathogenic; 19 individuals (1.7%) carried at least one autosomal CNV classified as possibly pathogenic. Eleven patients (1%) carried more than one (possibly) pathogenic CNV. We identified CNVs covering recently reported (HNRNPU) or emerging (RORB) epilepsy genes, and further delineated the phenotype associated with mutations of these genes. Additional novel epilepsy candidate genes emerge from our study. Comparing phenotypic features of pathogenic CNV carriers to those of noncarriers of pathogenic CNVs, we show that patients with nonneurological comorbidities, especially dysmorphism, were more likely to carry pathogenic CNVs (odds ratio = 4.09, confidence interval = 2.51-6.68; P = 2.34 x 10(-9)). Meta-analysis including data from published control groups showed that the presence or absence of epilepsy did not affect the detected frequency of CNVs. Significance The use of a specifically adapted workflow enabled identification of pathogenic autosomal CNVs in 10.9% of patients with epilepsy plus, which rose to 12.7% when we also considered possibly pathogenic CNVs. Our data indicate that epilepsy with comorbid features should be considered an indication for patients to be selected for a diagnostic algorithm including CNV detection. Collaborative large-scale CNV reanalysis leads to novel declaration of pathogenicity in unexplained cases and can promote discovery of promising candidate epilepsy genes.Peer reviewe

New Research in Children with Neurodevelopmental Disorders

This book collects recent research in the field of care for neurodevelopmental disorders, emphasizing transdisciplinary work in clinical, educational and family contexts. It presents an opportunity to learn about the impact of participation on children and adolescents with neurodevelopmental disorders. Mainly, new therapeutic approaches are presented in children and adolescents with autism spectrum disorder, attention-deficit/hyperactivity disorder, or motor coordination disorders

International consensus recommendations on the diagnostic work-up for malformations of cortical development

Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. MCDs place a substantial burden on affected individuals, their families and societies worldwide, as these individuals can experience lifelong drug-resistant epilepsy, cerebral palsy, feeding difficulties, intellectual disability and other neurological and behavioural anomalies. The diagnostic pathway for MCDs is complex owing to wide variations in presentation and aetiology, thereby hampering timely and adequate management. In this article, the international MCD network Neuro-MIG provides consensus recommendations to aid both expert and non-expert clinicians in the diagnostic work-up of MCDs with the aim of improving patient management worldwide. We reviewed the literature on clinical presentation, aetiology and diagnostic approaches for the main MCD subtypes and collected data on current practices and recommendations from clinicians and diagnostic laboratories within Neuro-MIG. We reached consensus by 42 professionals from 20 countries, using expert discussions and a Delphi consensus process. We present a diagnostic workflow that can be applied to any individual with MCD and a comprehensive list of MCD-related genes with their associated phenotypes. The workflow is designed to maximize the diagnostic yield and increase the number of patients receiving personalized care and counselling on prognosis and recurrence risk