Desórdenes del neurodesarrollo: del laboratorio al aula de clase / Neurodevelopmental disorders: from the laboratory to the classroom

Resumen Los desórdenes del Neurodesarrollo son en conjunto los diagnósticos más frecuentes en la práctica clínica en Neurología Infantil. De los años 70', se desarrolló una terminología usada para deno minar estos desordenes, con el objetivo de obtener mejor atención en servicios médicos y educativos para los afectados. A lo largo de los años, las clasificaciones han cambiado, pero el proceso fundamental del diagnóstico sigue siendo el mismo. Existe actualmente un movimiento para cambiar y establecer una nueva clasificación, basada en los déficits biológicos asociados con el fenotípico clínico. Esta nueva aproximación diagnóstica tiene como objetivo entre tantos otros, el diseño de intervenciones específicas que prometerían un mayor potencial curativo, a diferencia de las actuales opciones de tratamiento, que se basan en el manejo de síntomas. Impor tantes progresos se han hecho ya en este campo. Por ejemplo, algunos fenotipos conductuales en condiciones genéticas ampliamente conocidas como el Síndrome de Down, síndrome de X Frágil, neurofibromatosis, esclerosis tuberosa entre otros, han permitido proponer correlaciones biológicas con fenotipos comunes en pacientes con autismo, trastornos por déficit de atención, entre otros. Adicionalmente, el extenso estudio que actualmente se lleva a cabo sobre las denominadas enfermedades raras, que se asocian hasta en un 80% con trastornos del neurodesarrollo, ha abierto la posibilidad para muchas más correlaciones biológicas-comportamentales. En el futuro, será posible esperar oportunidades para la identificación de déficits biológicos moleculares, asociados con fenotipos clínicos cognitivos-conductuales y que, a partir de ellos se puedan diseñar intervenciones individuales a los problemas que hoy conocemos globalmente como los desórdenes del neurodesarrollo.

Abstract Neurodevelopmental disorders are the most common diagnosis in the clinical practice in child neurology. Since the 70's the terminology used for the diagnosis of these conditions, was developed with the goal of obtaining better ser vices for those individuals affected. Over the years the classification has changed but the fundamental process for diagnosis continues the same. There is a new movement aiming to change the current classification and propose a new one based in the molecular deficits associated with the clinical phenotype rather than a collection of symptoms. This new approach focusses on the identification of the molecular defectcausing of the specific to design targeted interventions that will promise a curative approach, rather than the current symptom-based interventions available. Important progress has been done alrea dy, given the high association between cognitive/ compartmental phenotype in some well-known genetic defects like Neurofibromatosis, TSC, Down syndrome, and the high association between different cognitive/compartmental phenotype in rare diseases. The future will hold opportunities to properly identify the molecular deficit and a tailored intervention for those conditions today called Neurodevelopmental disabilities.

Multidisciplinary Approaches in Developing Guideline for Mediating Behavioral Problems in Children and Adolescents with Neurodevelopmental Disorders / 신경정신의학

OBJECTIVES: To initiate and develop a treatment guideline in multidisciplinary approaches for related professions who are either working and/or living with children and adolescents with neurodevelopmental disorders who show behavioral problems. METHODS: To collect and reflect opinions from multiple professions who assumedly have different interventions or mediations on behavioral problems, a self-report survey and Focus Group Interview (FGI) were conducted for a group of child and adolescent psychiatrists, behavioral therapists, special education teachers, social welfare workers, and caregivers. RESULTS: According to a self-report survey and FGI results from multiple professional groups, aggressive behavior is the mostly common behavioral problem necessitating urgent interventions. However, both mainly used intervention strategies and effective treatment methods were different depending on professional backgrounds, such as pharmacological treatment, parent training, and behavior therapy, even though they shared an importance of improving communication skills. In addition, there was a common understanding of necessity to include parent training in a guideline. Lastly the data suggested lack of proper treatment facilities, qualified behavior therapists, and lack of standardized treatment guideline in the field needed to be improved for a quality of current therapeutic services. CONCLUSION: It is supported that several subjects should be included in the guidelines, such as how to deal with aggressive behavior, parent training, and biological aspects of neurodevelopmental disorders. Also, it is expected that publishing the guideline would be helpful to above multiple professions as it is investigated that there are lack of treatment facility and qualified behavioral therapists compared to need at the moment.