Genetics applied to clinical practice in neurodevelopmental disorders

Las evidencias genéticas de los trastornos del neurodesarrollo están ampliamente sustentadas en la literatura médica. Los avances en la genética y la tecnología han incrementado la rentabilidad diagnóstica de los estudios actuales de un 3-5% a un 30-40% en los pacientes con discapacidad intelectual o trastornos del espectro autista. En este sentido, los estudios por microarrays cromosómicos muestran un mayor poder diagnóstico que las técnicas convencionales (cariotipo, análisis de subtelómeros…). Los protocolos más recientes en el apartado biomédico del estudio genético de estos trastornos sitúan los microarrays cromosómicos como análisis de primera línea, recomendando otros estudios específicos según las características clínicas del paciente (síndrome X frágil, mutación en PTEN...). En la evaluación de otros trastornos del neurodesarrollo (trastorno por déficit de atención/hiperactividad, trastornos del aprendizaje...), la realización de pruebas genéticas está limitada y condicionada a las características clínicas o antecedentes familiares o personales del paciente; incluso en estas situaciones, no existen protocolos de evaluación o derivación genéticaThe medical literature contains a wide body of evidence supporting genetic involvement in neurodevelopmental disorders. Advances made in genetics and technology have increased the diagnostic cost-effectiveness of current studies from 3-5% to 30-40% in patients with intellectual disability or autism spectrum disorders. In this regard, chromosomal microarray studies display greater diagnostic power than conventional techniques (karyotype, subtelomeric analyses, etc.). The latest protocols in the biomedical field of the genetic study of these disorders cite chromosomal microarrays as the first-line analysis, while also recommending other specific studies depending on the patient’s clinical features (fragile X syndrome, PTEN mutation, etc.). In the evaluation of other neurodevelopmental disorders (attention deficit hyperactivity disorder, learning disorders, etc.), the number of genetic tests carried out is limited and conditioned by the clinical characteristics or the patient’s familial or personal history. Even in these situations, there are no genetic referral or evaluation protocol

Handbook of Active Ageing and Quality of Life: From Concepts to Applications

La edición de este libro estuvo a cargo de Fermina Rojo-Pérez y Gloria Fernández-Mayoralas.El documento adjunto contiene la cubierta, portada e índice del libro.This handbook presents an overview of studies on the relationship of active ageing and quality of life. It addresses the new challenges of ageing from the paradigm of positive ageing (active, healthy and successful) for a better quality of life. It provides theoretical perspectives and empirical studies, including scientific knowledge as well as practical experiences about the good ageing and the quality of later life around the world, in order to respond to the challenges of an aged population. The handbook is structured in 4 sections covering theoretical and conceptual perspectives, social policy issues and research agenda, methods, measurement instrument-scales and evaluations, and lastly application studies including domains and geographical contexts.Peer reviewe

Mutación de novo en KAT6B, síndrome Say-Barber-Biesecker-Young-Simpson y trastorno específico del lenguaje

Sin financiación3.109 JCR (2020) Q3, 115/208 Clinical Neurology0.595 SJR (2020) Q2, 1138/2446 Medicine (miscellaneous)No data IDR 2020UE

Jansen-de Vries syndrome. First case diagnosed in Spain

Sin financiación5.486 JCR (2021) Q1, 45/212 Clinical Neurology0.550 SJR (2021) Q2, 1131/2489 Medicine (miscellaneous)No data IDR 2020UE

Dysfunction in attention deficit hyperactivity disorder: assessment and response to treatment

El trastorno por déficit de atención/hiperactividad (TDAH) es un trastorno heterogéneo y complejo sintomáticamente. Su sintomatología cardinal, la presencia de problemas disejecutivos, la desregulación emocional de muchos de ellos y la propia comorbilidad, entre otros, condicionarán su expresión clínica y la disfunción. La tipificación del TDAH como ‘trastorno’ requiere una evaluación precisa del término ‘disfunción’ o ‘repercusión’. Los avances en la tipificación y cuantificación de la sintomatología característica del TDAH deberían trasladarse a la medición y objetivación de la disfunción. La estimación de la disfunción como una simple interferencia, por clara que sea, podría llevar a una sobreestimación del diagnóstico de este trastorno. Del mismo modo que es ineludible su estimación para el diagnóstico, es igualmente necesaria para la correcta evaluación de la eficacia de las intervenciones terapéuticas, especialmente a medio y largo plazo. Son necesarios estudios adicionales en este sentido para valorar la eficacia de los tratamientos, sean farmacológicos o no, en diferentes dominios (relación social, aprendizaje, autoestima, calidad de vida, siniestralidad…)Attention deficit hyperactivity disorder (ADHD) is a heterogeneous, symptomatically complex disorder. Its cardinal symptom, the presence of dysexecutive problems, emotional dysregulation of many of them and its own comorbidity, among others, will condition its clinical expression and the dysfunction. Classifying ADHD as a ‘disorder’ calls for an accurate assessment of the terms ‘dysfunction’ or ‘repercussion’. The progress made in the classification and quantification of the symptoms characterising ADHD should be applied to measuring and objectifying dysfunction. Considering dysfunction as a simple interference, however clear it may be, could lead to an overestimation of the diagnosis of this disorder. Just as its estimation is essential for a diagnosis, it is also necessary for the correct evaluation of the efficacy of the therapeutic interventions, especially in the medium and long term. Further studies are needed in this sense to appraise the efficacy of the treatments, whether pharmacological or not, in different domains (social relationship, learning, self-esteem, quality of life, accidents, etc.

RM fetal en las anomalías del SNC: Aspectos de interés para el obstetra Abnormalities in fetal CNS: Interesting issues to the obstetrician

La resonancia magnética (RM) fetal es una técnica de imagen en auge, útil en la valoración del cerebro y columna fetal. Ayuda a estudiar el desarrollo cerebral fetal y se puede realizar un diagnóstico precoz de las anomalías congénitas. La imagen de RM muestra gran resolución de contraste y permite diferenciar mejor que la ecografía entre hallazgos normales y patológicos. Además, algunas malformaciones cerebrales o lesiones destructivas ocultas en la ecografía prenatal pueden ser detectadas por RM. Revisamos las indicaciones, utilidad, seguridad, aspectos técnicos de la RM fetal y la apariencia del desarrollo cerebral fetal, y evaluamos su contribución en el diagnóstico de las patologías de las diferentes regiones cerebrales y de la patología espinal fetal.<br>Fetal MR imaging (MRI) is an increasingly available technique used to evaluate the fetal brain and spine, because it provides a unique opportunity to evaluate fetal brain development and to make an early diagnosis of congenital abnormalities. MRI allows a better differentiation between normal and abnormal signal intensity of fetal tissues due to its higher contrast resolution compared to prenatal sonography (US). Therefore, structural abnormalities such as brain malformations and destructive lesions that could be sonographically occult on prenatal sonography can be detected at fetal MRI. We review indications, utility, safety, and technical aspects of fetal MR imaging and the appearance of normal fetal brain development evaluating its contribution in the diagnosis of fetal diseases of different brain regions and spinal disorders

Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations

KBG syndrome is characterized by dental, craniofacial and skeletal anomalies, short stature and global developmental delay or intellectual disability. It is caused by microdeletions or truncating mutations of ANKRD11. We report four unrelated probands with this syndrome due to de novo ANKRD11 aberrations that may contribute to a better understanding of the genetics and pathophysiology of this autosomal dominant syndrome. Clinical, cognitive and MRI assessments were performed. Three of the patients showed normal intellectual functioning, whereas the fourth had a borderline level of intellectual functioning. However, all of them showed deficits in various cognitive and socioemotional processes such as attention, executive functions, empathy or pragmatic language. Moreover, all probands displayed marked asymmetry of the uncinate fascicles and an abnormal gyrification pattern in the left frontal lobe. Thus, structural neuroimaging anomalies seem to have been overlooked in this syndrome. Disturbed frontal gyrification and/or lower structural integrity of the uncinate fascisulus might be unrecognized neuroimaging features of KBG syndrome caused by ANKRD11 aberrations. Present results also point out that this syndrome is not necessarily associated with global developmental delay and intellectual disability, but it can be related to other neurodevelopmental disorders or subclinical levels of attention-deficit hyperactivity disorder, autism, communication disorders or specific learning disabilities.Sin financiación3.140 JCR (2020) Q1, 31/129 Pediatrics0.997 SJR (2021) Q1, 480/2489 Medicine (miscellaneous)No data IDR 2020UE