Although "intellectual disability" has widely replaced the term "mental retardation", the debate as to whether this entity should be conceptualized as a health condition or as a disability has intensified as the revision of the World Health Organization (WHO)'s International Classification of Diseases (ICD) advances. Defining intellectual disability as a health condition is central to retaining it in ICD, with significant implications for health policy and access to health services. This paper presents the consensus reached to date by the WHO ICD Working Group on the Classification of Intellectual Disabilities. Literature reviews were conducted and a mixed qualitative approach was followed in a series of meetings to produce consensus-based recommendations combining prior expert knowledge and available evidence. The Working Group proposes replacing mental retardation with intellectual developmental disorders, defined as "a group of developmental conditions characterized by significant impairment of cognitive functions, which are associated with limitations of learning, adaptive behaviour and skills". The Working Group further advises that intellectual developmental disorders be incorporated in the larger grouping (parent category) of neurodevelopmental disorders, that current subcategories based on clinical severity (i.e., mild, moderate, severe, profound) be continued, and that problem behaviours be removed from the core classification structure of intellectual developmental disorders and instead described as associated features.
Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis.Salud Publica Mex 2008;50 suppl 2:S132-S141. AbstractEtiology and classification: Causal factors related with cognitive disability are multiples and can be classified as follows: Genetic, acquired (congenital and developmental), environmental and sociocultural. Likewise, in relation to the classification, cognitive disability has as a common denominator a subnormal intellectual functioning level; nevertheless, the extent to which an individual is unable to face the demands established by society for the individual's age group has brought about four degrees of severity: Mild, moderate, severe and profound. Diagnostic: The clinical history must put an emphasis on healthcare during the prenatal, perinatal and postnatal period and include the results of all previous studies, including a genealogical tree for at least three generations and an intentional search for family antecedents of mental delay, psychiatric illnesses and congenital abnormalities. The physical exam should focus on secondary abnormalities and congenital malformations, somatometric measurements and neurological and behavioral phenotype evaluations. If it is not feasible to establish a clinical diagnosis, it is necessary to conduct high-resolution cytogenetic studies in addition to metabolic clinical evaluations. In the next step, if no abnormal data are identified, submicroscopic chromosomal disorders are evaluated. Prognosis: Intellectual disability is not curable; and yet, the prognostic in general terms is good when using the emotional wellbeing of the individual as a parameter. Conclusions: Intellectual disability should be treated in a comprehensive manner. Nevertheless, currently, the fundamental task and perhaps the only one that applies is the detection of the limitation and abilities as a function ResumenEtiología y clasificación: múltiples factores causales están relacionados con la discapacidad cognoscitiva y pueden clasificarse de la siguiente manera: genéticos, adquiridos, (congénitos y de desarrollo), ambientales y socioculturales. Del mismo modo, en cuanto a la clasificación, la discapacidad cognoscitiva tiene como común denominador un nivel de funcionamiento intelectual por debajo de lo normal; sin embargo, la medida en que una persona es incapaz de afrontar las demandas establecidas por la sociedad para su grupo de edad ha dado origen a cuatro grados de severidad: ligera, moderada, severa y profunda. Diagnóstico: el historial clínico debe hacer énfasis en el cuidado de la salud durante el periodo prenatal, perinatal y postnatal e incluir los resultados de todos los estudios previos, incluyendo un árbol genealógico de al menos tres generaciones y una búsqueda intencional de antecedentes familiares de retraso mental, enfermedades psiquiátricas y anomalías congénitas. El examen físico debe concentrarse en anomalías secundarias y en malformaciones congénitas, mediciones somatométricas, y evaluaciones del fenotipo neurológico y ...
Objective. This study aims to generate evidence on intellectual development disorders (IDD) in Mexico. Materials and methods. IDD disease burden will be estimated with a probabilistic model, using population-based surveys. Direct and indirect costs of catastrophic expenses of families with a member with an IDD will be evaluated. Genomic characterization of IDD will include: sequencing participant exomes and performing bioinformatics analyses to identify de novo or inherited variants through trio analysis; identifying genetic variants associated with IDD, and validating randomly selected variants by polymerase chain reaction (PCR) and sequencing or real-time quantitative PCR (qPCR). Delphi surveys will be done on best practices for IDD diagnosis and management. An external evaluation will employ qualitative case studies of two social and labor inclusion programs for people with IDD. Conclusions. The results will constitute scientific evidence for the design, promotion and evaluation of public policies, which are currently absent on IDD. ResumenObjetivo. Esta investigación busca generar evidencia sobre trastornos del desarrollo intelectual (TDI) en México. Material y métodos. La carga de la enfermedad por TDI se estimará con un modelo probabilístico usando encuestas poblacionales. Se estimarán costos directos e indirectos de gastos catastróficos de familias con un integrante con TDI. La caracterización genómica de TDI incluirá secuenciar exomas, realizar análisis bioinformático para identificar variantes de novo o heredadas a través de análisis de tríos, identificar variantes genéticas asociadas con TDI, y validar variantes aleatoriamente seleccionadas con reacción en cadena de polimerasa y secuenciación o qPCR. Se harán encuestas Delphi sobre mejores prácticas de diagnóstico y manejo de TDI. Una evaluación externa empleará estudios cualitativos de caso de dos programas de inclusión social y laboral para personas con TDI. Conclusiones. Los resultados serán evidencia científica que podrá ser la base para el diseño, promoción y evaluación de políticas públicas, actualmente ausentes para TDI.Palabras clave: trastornos del desarrollo intelectual; TDAH; trastorno autista; gasto; México
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