Estudio de calidad de vida y comportamiento adaptativo en niños y adolescentes con discapacidad intelectual / Study of Quality of Life and Adaptive Behavior in Children and Adolescents with Intellectual Disability

Introducción: Los niños y adolescentes con discapacidad intelectual (DI) requieren de evaluaciones cognitivas, adaptativas y de calidad de vida (CV) con el fin de programar estrategias integrales de intervención basadas en sus necesidades. El objetivo de este estudio es describir CV, comportamiento adaptativo y cognición en una serie de niños y adolescentes con DI. Método: Se estudiaron 28 pacientes entre 6 a 18 años con escala de CV, evaluaciones cognitivas y comportamiento adaptativo. Resultados: En escala de CV se obtuvo una puntuación promedio, rango percentil 45-50, con menor puntaje en dimensiones de desarrollo personal, relaciones interpersonales e inclusión social. En escala de comportamiento adaptativo la mayoría de los pacientes presentaron nivel adaptativo bajo, sus dominios más afectados fueron comunicación y socialización. Al relacionar CV, comportamiento adaptativo y cognición se encontró una correlación significativa entre función adaptativa general y cognición (r = ,74, p < ,01) y entre función adaptativa e índice de calidad de vida (r = ,63, p < ,01). Conclusiones: En nuestra serie de niños y adolescentes con DI se relaciona un menor comportamiento adaptativo con menor CV y menor cognición. Inclusión social, desarrollo personal y relaciones interpersonales, así como socialización y comunicación, son las líneas a considerar como planes de intervención. (AU)

Children and adolescents with intellectual disabilities (ID) require cognitive, adaptive and quality of life (QoL) assessments in order to program integral strategies of intervention based on their needs. The objective of this study is to describe quality of life, adaptive behavior and cognition in a series of children and adolescents with ID. Method: 28 patients between 6 and 18 years old were studied with QoL scales, adaptive behavior and cognitive evaluations, and their correlations. Results: On the CV scale, an average score was obtained, 45-50 percentile range, with a lower score in dimensions of personal development, interpersonal relationships and social in-clusion. On the adaptive behavior scale, most of the patients presented a low adaptive level; their most affected domains were communication and socialization. When relat-ing QoL, adaptive behavior and cognition, a significant correlation was found between general adaptive function and cognition (r = ,74, p < ,01) and between adaptive function and quality of life index (r = ,63, p < ,01). Conclusions: In our series of children and adolescent with ID, a lower adaptive behavior is associated with a lower QoL and low-er cognition. Social inclusion, personal development and interpersonal relationships, as well as socialization and communication, are the lines to consider as intervention plans. (AU)

[Children and adolescents with intellectual disabilities studied with genetic tests according to their clinical phenotype]. / Estudio genético de acuerdo a características fenotípicas de niños y adolescentes con discapacidad intelectual de etiología indeterminada.

INTRODUCTION: Intellectual disability (ID) is a neurodevelopmental disorder characterized by limitations in intellec tual and adaptive functioning, of various etiologies, including genetic causes. OBJECTIVE: to describe genetic studies carried out in a series of children and adolescents with ID of previously undetermined etiology, considering their phenotypic characteristics. PATIENTS AND METHOD: Descriptive study of a series of patients with ID aged 6 to 18 years. Clinical records, cognitive assessment results (Wechsler -TADI), and genetic study performed were reviewed. They were classified according to phenotypic characteristics into Group 1 patients without a specific phenotype, Group 2: patients with Angel- man- and Rett-like neurodevelopmental disorders phenotype, and Group 3: patients with difficult- to-control seizures. Group 1 was studied with CMA and Groups 2 and 3 with specific genetic panels. RESULTS: 18 patients were described, average age 11 years, male predominance, non-consanguineous parents, and with history of psychomotor retardation. Common comorbidities were epilepsy, autism spectrum disorder (ASD), and behavioral difficulties. Most had a neurological examination without focus and had TADI with very poor developmental ages. In Group 1, there was one patient with a 16p11.2 microdeletion and in Group 3 a duplication of the IQSEC2 gene was found in a patient with difficult-to-control seizures. CONCLUSIONS: The phenotypic characteristics allow to guide the choice of specific genetic studies in children and adolescents with ID of previously undetermined etiology to approach the etiological diagnosis.