¿Qué puede esconder el retraso global del desarrollo? A propósito de un caso de causa genética / What can Global Developmental Delay Conceal? Apropos of a Case with a Genetic Cause

Se presenta un niño de 6 años con antecedente de retraso del lenguaje que llevó a sus padres a realizar múltiples consultas. En un primer momento, su cuadro fue interpretado como parte de un retraso global del desarrollo. Posteriormente, el paciente presentó convulsiones y episodios de descompensación metabólica, comenzando desde entonces su seguimiento por los Servicios de neurología, genética y metabolismo. Finalmente, tras varios estudios complementarios, por medio de un exoma trío se arribó al diagnóstico de síndrome de microduplicación del cromosoma 7q11.23, lo que justifica tanto el retraso global de desarrollo del paciente como su clínica neurológica. (AU)

A six-year-old boy presents with a history of language delay that led his parents to make multiple consultations. At first, we interpreted his condition as part of a global developmental delay. Subsequently, the patient presented seizures and episodes of metabolic decompensation, and since then, he had to be followed up by neurology, genetics, and metabolism services. Finally, after several complementary studies, following a trio exome analysis, we diagnosed chromosome 7q11.23 microduplication syndrome, which explains his global developmental delay and neurological symptoms. (AU)

Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review / 中国当代儿科杂志

OBJECTIVES@#To summarize the clinical phenotype and genetic characteristics of children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations.@*METHODS@#A retrospective analysis was performed on the medical data of 8 children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations who were diagnosed and treated in the Department of Pediatrics, Xiangya Hospital of Central South University.@*RESULTS@#The mean age of onset was 9 months for the 8 children. All children had moderate-to-severe developmental delay (especially delayed language development), among whom 7 children also had seizures. Among these 8 children, 7 had novel heterozygous mutations (3 with frameshift mutations, 2 with nonsense mutations, and 2 with missense mutations) and 1 had 6p21.3 microdeletion. According to the literature review, there were 48 Chinese children with mental retardation caused by SYNGAP1 gene mutations (including the children in this study), among whom 40 had seizures, and the mean age of onset of seizures was 31.4 months. Frameshift mutations (15/48, 31%) and nonsense mutations (19/48, 40%) were relatively common in these children. In terms of treatment, among the 33 children with a history of epileptic medication, 28 (28/33, 85%) showed response to valproic acid antiepileptic treatment and 16 (16/33, 48%) achieved complete seizure control after valproic acid monotherapy or combined therapy.@*CONCLUSIONS@#Children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations tend to have an early age of onset, and most of them are accompanied by seizures. These children mainly have frameshift and nonsense mutations. Valproic acid is effective for the treatment of seizures in most children.

Alta prevalencia de discapacidad intelectual y de comportamiento en niños de 2-17 años, Honduras 2017 / High prevalence of intellectual and behavioral disability in children aged 2-17 years, Honduras 2017

En Honduras el último registro de discapacidad en niños fue en el 2002 y se considera que su valor pudo ser subestimado. Objetivo: Determinar la prevalencia de discapacidad en niños de 2-17 años, Honduras 2017. Métodos: Estudio descriptivo transversal. Estudiantes del último año de la Carrera de Medicina, Universidad Nacional Autónoma de Honduras (UNAH), visitaron 50 casas de las comunidades asignadas mediante muestreo polietápico. Se encuestaron cuidadores adultos de niños de 2-17 años aplicando Instrumento del Grupo de Washington, previo consentimiento/asentimiento informado. Se realizó análisis univariado (frecuencias, porcentajes, prevalencias, IC95%) y bivariado (diferencia de proporciones, p<0.05 se consideró significativo). Resultados: Prevalencia de discapacidad en niños fue 8.96% (IC95% 8.5-9.4), departamentos con prevalencia ≥10%: El Paraíso, Francisco Morazán, Santa Bárbara, Cortés y Comayagua. Se identificó mayor prevalencia en sexo masculino, edad 5-17 años, nivel de escolaridad medio y secundaria y relación inversa entre discapacidad con escolaridad del cuidador y nivel de ingresos del hogar (p<0.01). El tipo de discapacidad encontrado fue intelectual y conductual: comportamiento (1.9%) y comunicación (2.4%) en edad 2-4 años, y comportamiento, aprendizaje, atención y comunicación en edad 5-17 años (prevalencia≥2%). El 80% no había recibido atención alguna. Discusión: La discapacidad en los niños de Honduras es mayor de lo reportado, y estos niños están desatendidos por lo que podrían ser adultos dependientes a futuro. Debe educarse a quienes atienden la primera infancia en identificar la discapacidad en niños y crear políticas públicas que generen mayor atención e inclusión...(AU)

General, verbal, and non-verbal cognitive functioning of children and adolescents with 22q11-2 deletion syndrome / Funcionamento cognitivo geral, verbal e não verbal de crianças e adolescentes com síndrome de deleção 22q11-2

BACKGROUND: Cognitive dysfunctions are frequently found in the 22q11.2 Deletion Syndrome, being an aggravating factor in the impairment of social relationships and communication, strongly impacting the functionality of the individual. Increasing the knowledge regarding cognitive skills may provide contributions to the diagnostic process and the intervention planning. OBJECTIVES: To estimate the general, verbal, and non-verbal cognitive functioning of children and adolescents with 22q11.2 Deletion Syndrome. METHODS: This is a cross-sectional, descriptive, and case series study regarding 15 individuals between 7-18 years-old diagnosed with 22q11.2 Deletion Syndrome. An assessment of the cognitive functions was performed using the Wechsler Abbreviated Scale of Intelligence (WASI). For data analysis we used a descriptive statistics analysis, having absolute frequencies for variables, and mean, median, standard deviation, minimum and maximum values for numerical variables. RESULTS: In the group analysis, we observed an important cognitive impairment degree. Most of the sampling (n=8; 53.33%) presented a considerably low total intelligence quotient score. Cases showing lower performances also presented greater difficulties regarding Visual Motor and Visuospatial coordination. Regarding the intelligence quotient representative punctuation in the WASI scale, the sample showed a large variability in the results (between 40 and 92 points), with the median total of 83. CONCLUSIONS: We observed important dysfunctions, cognitive difficulties, and intellectual, verbal, and non-verbal disabilities in the population studied. These findings indicate the need for an early intervention to assist not only the cognitive aspect, but also the socio-emotional development of children with the 22q11.2 Deletion Syndrome, aiming at their participation in society.

FUNDAMENTO: Disfunções cognitivas são frequentemente encontradas na Síndrome de Deleção 22q11.2, sendo um agravante no comprometimento das relações sociais e da comunicação, impactando fortemente na funcionalidade do indivíduo. O aumento do conhecimento sobre as habilidades cognitivas pode trazer contribuições no processo diagnóstico e no planejamento da intervenção. OBJETIVO: Estimar o funcionamento cognitivo geral, verbal e não verbal de crianças e adolescentes com Síndrome de Deleção 22q11.2. MÉTODOS: Estudo transversal, descritivo, tipo série de casos, com 15 indivíduos entre 7-18 anos com diagnóstico da Síndrome de Deleção 22q11.2. A avaliação das habilidades cognitivas foi realizada com a Escala Wechsler Abreviada de Inteligência (WASI). Para análise dos dados, foi utilizada análise estatística descritiva, com frequências absolutas para variáveis, e média, mediana, desvio padrão, mínima e máximo para variáveis numéricas. RESULTADOS: Na análise do grupo, observou-se um importante grau de comprometimento cognitivo. A maior parte da amostra (n=8; 53,33%) mostrou quociente de inteligência total extremamente baixo. Os casos com desempenhos mais baixos apresentaram maiores dificuldades em relação às habilidades de coordenação visuomotora e visuoespacial. Em relação à pontuação representativa do quociente de inteligência na escala WASI, a amostra apresentou uma grande variabilidade de resultados (entre 40 a 92 pontos), com mediana total de 83 pontos. CONCLUSÕES: As dificuldades cognitivas encontradas indicam a necessidade de uma intervenção precoce para auxiliar não só no desenvolvimento cognitivo, mas socioemocional de crianças com a Síndrome de Deleção 22q11.2 visando sua participação na sociedade.

Evolución cognitiva en la etapa escolar de un grupo de niños con retraso global del desarrollo / Cognitive evolution in the school stage of a group of children with global developmental delay

Introducción: Existen pocos estudios sobre la evolución del retraso global del desarrollo (RGD), por lo que se cuestiona su valor pronóstico. Objetivo: Describir la evolución cognitiva en la edad escolar de niños con diagnóstico inicial de RGD. Pacientes y Métodos: Estudio observacional, transversal, con análisis prospectivo y retrospectivo. Fueron incluidos niños de seis a once años de edad, con diagnóstico previo de RGD. La variable punto final fue la presencia o no del déficit cognitivo (menor a dos desvíos estándares en las pruebas cognitivas), se realizó análisis con el paquete estadístico R. Resultados: Se estudiaron 150 pacientes con diagnóstico inicial de RGD, 86 con compromiso leve y 64 moderado-severo. El déficit cognitivo persistió en 75 pacientes (50%), 34.8% en el grupo leve y 70.3% en el moderado-severo Del resto, un 13% tuvo rendimiento promedio, un 20%, limítrofe y el 17% perfil discrepante. El análisis univariado identificó cuatro factores de riesgo asociados a persistencia del compromiso cognitivo: el grado de compromiso inicial moderado/severo (OR 4,59, 2,24-9,78), el tiempo de tratamiento menor a tres años (OR 2,30 1,02-5,34), las necesidades básicas insatisfechas (OR 1,62 0,76-3,47) y la presencia de síndrome genético (OR 2,99 1,09-8,99). El modelo de regresión logística con mayor poder explicativo incluyó estas cuatro variables (p 0.9998). Conclusiones: La trayectoria cognitiva mostró un 50 % de persistencia del déficit cognitivo. El grado de compromiso inicial, la duración del tratamiento, las necesidades básicas insatisfechas y la presencia de un síndrome genético asociado mostraron asociación con la persistencia del mismo (AU)

Introduction: Studies on the outcome of global developmental delay (GDD) are scarce, and therefore, their prognostic value is questionable. Objective: To describe the cognitive outcome at school age of children initially diagnosed with GDD. Patients and Methods: Cross-sectional, observational study with a prospective and retrospective analysis. Children between six and 11 years of age with a previous diagnosis of GDD were included. The endpoint variable was the presence or not of a cognitive deficit (two standard deviations below the mean on cognitive tests). Analyses were performed using the R Statistical Software. Results: 150 patients with an initial diagnosis of GDD were studied, 86 with mild and 64 with moderate-to-severe involvement. The cognitive deficit persisted in 75 patients (50%); 34.8% of whom were in the mild and 70.3% in the moderate-to-severe group. Of the remaining patients, performance was average in 13%, borderline in 20%, and the profile was discrepant in 17%. Univariate analysis identified four risk factors associated with persistence of the cognitive deficit: initial moderate-to-severe degree of the deficit (OR 4.59, 2.24-9.78), treatment duration less than three years (OR 2.30, 1.02-5.34), unsatisfied basic needs (OR 1.62, 0.76- 3.47), and presence of a genetic syndrome (OR 2.99, 1.09-8.99). The logistic regression model with the strongest explanatory power included these four variables (p 0.9998). Conclusions: In 50% the cognitive course showed a persistent cognitive deficit. The degree of initial compromise, treatment duration, unsatisfied basic needs, and presence of a genetic syndrome were associated with persistence of the deficit. (AU)

Variante patogénica en el gen PCDH19 en una paciente con epilepsia y discapacidad cognitiva / Pathogenic variant in the PCDH19 gene in a patient with epilepsy and cognitive disability

INTRODUCCIÓN: La asociación de casos familiares de epilepsia y discapacidad intelectual (DI) en mujeres fue reportada en 1971. El año 2008, se identificó el rol de variantes patogénicas del gen PCDH19 en algunas familias. La enfermedad se presenta con crisis febriles en cluster, DI y rasgos autistas. La mayoría se debe a variantes de novo, pero hay algunos casos heredados por un modo peculiar de transmisión ligada X. OBJETIVO: Comunicar el caso de una paciente con epilepsia portadora de una variante patogénica en el gen PCDH1 9, revisando la historia natural de la enfermedad y la evidencia disponible para su manejo. CASO CLÍNICO: Paciente femenina, con antecedentes de embarazo y período perinatal normal. A los 6 meses, estando febril, presentó crisis focales motoras en cluster que repitieron a los 14, 18, 21 meses y 3 años siempre asociadas a fiebre, presentando incluso estatus epiléptico. Mantiene biterapia con topiramato y ácido valproico, completando 13 años sin crisis. El estudio del gen SCN1A no mostró anomalías y el estudio del gen PCDH19 reveló una variante patogénica en heterocigosis, "de novo". La paciente ha evolucionado con DI y alteraciones conductuales severas que requieren aten ción de salud mental. CONCLUSIONES: Las variantes patogénicas PCDH19 tienen expresión fenotípica variada. El diagnóstico genético debe sospecharse con la clínica. La morbilidad psiquiátrica a largo plazo puede ser incapacitante.

INTRODUCTION: The association of family cases of epilepsy and intellectual disability in women was reported in 1971. In 2008, the role of pathogenic variants of the PCDH19 gene in some families were identified. The disease presents with febrile seizure clusters, intellectual disability, and autistic features. Most cases are due to de novo variants, however, there are some inherited cases, with an atypical way of X-linked transmission. OBJECTIVE: To report the case of a patient with epilepsy carrier of a pathogenic variant of the PCDH19 gene, reviewing the natural history of this condition and the available evidence for its management. CLINICAL CASE: Female patient, with normal history of pregnancy and perinatal period. At 6 months, while febrile, she presented focal motor seizure clusters that repeated at 14, 18, 21 months and 3 years old, always associated with fever, even presenting status epilepticus. She is on therapy with topiramate and valproic acid, achieving 13 seizure-free years. The analysis of the SCN1A gene showed no abnormalities and the study of the PCDH19 gene revealed a de novo heterozygous pathogenic variant. The patient evolved with intellectual disability and severe behavioral disorders that require mental health team support. CONCLUSIONS: PCDH19 pathogenic variants have varied phenotypic expression. The genetic diagnosis should be guided with the clinical features. Long-term psychiatric morbidity can be disabling.

Estudios genéticos y neurodesarrollo: De la utilidad al modelo genético / Genetic studies and neurodevelopment. From effectiveness to genetic models]

Los avances en la genética han podido apoyar la sospecha que aportaba la experiencia clínica sobre el gran componente hereditario de la mayor parte de estos trastornos del neurodesarrollo (TND). Los estudios iniciales de heredabilidad, ligamiento o asociación evidenciaron desde los inicios la gran contribución de la variación genotípica a la clínica en general, y a los TND en particular. No debe obviarse la utilidad de los estudios genéticos en el ejercicio clínico, encaminados al diagnóstico etiológico. La mayor parte de los mismos están protocolizados en el estudio de trastornos como la discapacidad intelectual y el autismo; dentro de éstos, la hibridación por arrays cromosómicos ha aportado una mayor rentabilidad diagnóstica respecto a técnicas citogenéticas históricas (3 vs. 10% respectivamente). Sin embargo, la irrupción y rentabilidad de técnicas de genética molecular por secuenciación, particularmente la exómica y genómica en trío, analizando a padres, (tasas diagnósticas del 30-50%), están condicionando la modificación de los algoritmos genéticos en el diagnóstico de trastornos graves del neurodesarrollo. El mayor conocimiento de variantes causales de discapacidad intelectual y autismo está igualmente modificando los modelos teóricos poligénicos establecidos hasta la fecha.

Advances in genetics have been able to support the clinical suspicion on the large hereditary component of most of these neurodevelopmental disorders (NDD). Initial studies on heritability, linkage or association showed from the beginning the great contribution of genotypic variation to the clinic in general, and to NDD in particular. The effectiveness of genetic studies in clinical practice, targeted to aetiological diagnosis, should not be ignored. Most of these are protocolized in the study of disorders such as intellectual disability and autism; within these, the array comparative genomic hybridization have supported a greater diagnostic effectiveness with respect to historical cytogenetic techniques (3 vs. 10% respectively). However, the irruption and success of molecular genetic sequencing techniques, particularly the exome and genome in trio, analyzing the parents (diagnostic rates of 30-50%), are conditioning the modification of the genetic algorithms in the diagnosis of different NDD. The greater knowledge of causal variants in intellectual disability and autism is also modifying the polygenic theoretical models established to date.

Salud familiar en niños con discapacidad intelectual / Family health in children with intellectual disabilities / Saúde da família em crianças com deficiência intelectual

RESUMEN Introducción: El tránsito de la familia por las etapas de ciclo vital tiene eventos que dinamizan la funcionabilidad familiar, tener un hijo diagnosticado con discapacidad intelectual irrumpe la dinámica. Objetivo: Diagnosticar la salud del familiar donde convive un discapacitado intelectual perteneciente a la Escuela Especial "José Antonio Echavarría" del municipio Guantánamo. Método: Se realizó un estudio descriptivo de corte transversal cuanticualitativo, en 45 familias de la Escuela Especial "José Antonio Echavarría" del municipio Guantánamo. Se utilizó el modelo teórico-metodológico de evaluación de la salud familiar que incluyó como instrumentos de evaluación, la prueba de percepción del funcionamiento familiar, inventario de características familiares de riesgo y la matriz familiar. Resultados: Según la ontogénesis de las familias predominaron las ampliadas para un 65,3 %, por la composición y estructura, las medianas, y por el número de generaciones, trigeneracional, para un 45,36 %. Las crisis paranormativas estaban presentes en 66,6 % de las familias al presentar desmembramiento, el 39,8 % por desmoralización, sólo el 4,4 % de las familias fue funcional. Según características familiares de riesgo las variables que más prevalecieron fueron procesos críticos normativos con un 95,5 %, procesos críticos de salud y procesos críticos paranormativos para un 100 %. El cruzamiento de los resultados dió lugar a la matriz de salud familiar. Conclusiones: Se reveló que es más frecuente la presencia de un niño discapacitado en familias disfuncionales, que de manera más común no satisfacen sus funciones.

ABSTRACT Introduction: The family's transit through the stages of the life cycle has events that boost family functionality, having a child diagnosed with intellectual disability breaks the dynamic. Objective: To diagnose the health of the family member where an intellectual disabled person belonging to the Special School "José Antonio Echavarría" of the Guantánamo municipality lives. Method: A descriptive study of a quantitative cross-sectional study was carried out in 45 families of the "José Antonio Echavarría" Special School of the Guantánamo municipality. The theoretical-methodological model of family health evaluation was used, which included as evaluation instruments, the proof of perception of family functioning, inventory of family risk characteristics and the family matrix. Results: According to the ontogenesis of the families, the ones extended by 65.3% predominated, by the composition and structure, the medium ones, and by the number of three-generational generations, for 45.36%. The paranormative crises were present in 66.6% of the families when presenting dismemberment, 39.8% due to demoralization, only 4.4% of the families were functional. According to family risk characteristics, the variables that prevailed most were critical regulatory processes with 95.5%, critical health processes and paranormal regulatory processes for 100%. The crossing of the results gave rise to the family health matrix. Conclusions: It was revealed that the presence of a disabled child is more frequent in dysfunctional families, which more commonly do not fulfill their functions.

RESUMO Introdução: O trânsito da família pelas etapas do ciclo de vida tem eventos que aumentam a funcionalidade da família, tendo um filho com diagnóstico de deficiência intelectual rompe a dinâmica. Objetivo: Diagnosticar a saúde do familiar onde mora uma pessoa com deficiência intelectual pertencente à Escola Especial "José Antonio Echavarría", do município de Guantánamo. Método: Foi realizado um estudo descritivo de um estudo transversal quantitativo em 45 famílias da Escola Especial "José Antonio Echavarría" do município de Guantánamo. Utilizou-se o modelo teórico-metodológico de avaliação em saúde da família, que incluiu como instrumentos de avaliação, a prova de percepção do funcionamento da família, inventário das características de risco familiar e matriz familiar. Resultados: De acordo com a ontogênese das famílias, as ampliadas em 65,3% predominaram, pela composição e estrutura, as médias e pelo número de três gerações geracionais, para 45,36%. As crises paranormativas estavam presentes em 66,6% das famílias quando apresentavam desmembramento, 39,8% devido à desmoralização, apenas 4,4% das famílias eram funcionais. De acordo com as características de risco familiar, as variáveis que mais prevaleceram foram processos regulatórios críticos com 95,5%, processos críticos de saúde e processos reguladores paranormais para 100%. O cruzamento dos resultados deu origem à matriz de saúde da família. Conclusões: Foi revelado que a presença de uma criança com deficiência é mais frequente em famílias disfuncionais, que mais comumente não cumprem suas funções.

Avaliação da influência de pais ou cuidadores no comportamento alimentar e estado nutricional de pessoas com deficiência intelectual atendidos em uma Instituição Social da Zona Leste de São Paulo / Evaluation of the influence of parents or caregivers on eating behavior and nutritional status of people with intellectual disabilities attended at a Social Institution in the East Zone of São Paulo

Esta pesquisa teve como objetivo avaliar a influência de pais ou cuidadores no comportamento alimentar e estado nutricional de pessoas com deficiência intelectual. Trata-se de um estudo transversal descritivo realizado em 64 adultos com deficiência intelectual de ambos os sexos atendidos em uma instituição social na zona leste de São Paulo e 64 respectivos pais ou cuidadores dessas pessoas. Foram aferidas medidas de peso e altura de todos os participantes para classificação do estado nutricional segundo índice de massa corpórea e aplicado questionário de frequência alimentar para coletar informações de frequência sobre o consumo dos mesmos. O consumo de alimentos foi reclassificado para análise em grupos segundo grau de processamento através do Guia Alimentar para a População Brasileira. Foi aplicado o Questionário de Comportamento Alimentar nos participantes com deficiência intelectual e analisado segundo categorias de interesse e desinteresse pela comida. O estudo encontrou 64,0% dos adultos com deficiência intelectual acima do peso, destes, 46,9% apresentaram pais ou cuidadores também com excesso de peso e ambos consomem com frequência alimentos ultra processados. A pesquisa revelou também que pessoas com deficiência intelectual têm maior prazer em comer. O estudo concluiu que pais e cuidadores exercem influência no comportamento alimentar e no estado nutricional de pessoas com deficiência intelectual, portanto, esses resultados sugerem que trabalhos de educação nutricional devem ser realizados em conjunto com pais e cuidadores de pessoas com deficiência intelectual, e assim, promover melhorias na qualidade de vida a longo prazo desta população. (AU)

This research aims at assessing the influence of parents and caregivers on eating behavior and nutritional status of people with intellectual disabilities. This is a cross-sectional descriptive study carried out on 64 adults with intellectual disabilities of both sexes, treated at a social institution in East Sao Paulo City, and their 64 respective parents and caregivers. All participants' weight and height measurements were taken to classify their nutritional status according to body mass index. Also a food frequency questionnaire was applied to collect information on the frequency those specific foods were consumed. Food consumption was reclassified for analysis in food groups according to the degree of processing by the Food Guide For The Brazilian Population. The eating behavior Children's Eating Behaviour Questionnaire was applied to participants with intellectual disabilities and analyzed according to categories of interest and disinterest in particular food items. The study found that 64% of the adults with intellectual disabilities were overweight; and of these, 46.9% had parents or caregivers who were also overweight and both frequently consume ultra-processed foods. The survey also revealed that people with intellectual disabilities find more pleasure in eating than those who do not have intellectual disabilities. Our study came to the conclusion that parents and caregivers have strong influence on the eating behavior and nutritional status of people with intellectual disabilities. Therefore, we suggest that a nutritional education work be carried out together with parents and caregivers of people with intellectual disabilities, thus making improvements in the long-term quality of life of this population. (AU)

Evidence of validity and reliability of the adaptive functioning scale for intellectual disability (EFA-DI)

Abstract Intellectual disability (ID) is a developmental disorder characterized by deficits in intellectual functioning and adaptive behavior. The fifth edition of the Diagnostic and statistical manual of mental disorders (DSM-5) defines adaptive functioning as a severity measure of ID. The availability of tests in the international context to assess this construct has increased in recent years. In Brazil, however, non-systematic assessment of adaptive functioning, such as through observation and interviews, still predominates. The Escala de Funcionamento Adaptativo para Deficiencia Intelectual EFA-DI [Adaptive Functioning Scale for Intellectual Disabilities] is a new instrument developed in Brazil to assess the adaptive functioning of 7- to 15-year-old children and support the diagnosis of ID. This study's objectives were to investigate evidence of validity related to the EFA-DI's internal structure, criterion validity, and reliability. The psychometric analyses involved two statistical modeling types, confirmatory factor analysis (CFA) and item response theory analysis (IRT). These results highlight the EFA-DI scale's strong psychometric properties and support its use as a parental report measure of young children's adaptive functioning. Future studies will be conducted to develop norms of interpretation for the EFA-DI. This study is expected to contribute to the fields of psychological assessment and child development in Brazil.

Caracterización clínica de niños, niñas y adolescentes atendidos en una unidad de neuropsicología de Medellín, Colombia / Clinical characterization of children and adolescents attended in a neuropsychology unit of Medellín, Colombia

Introducción. La neuropsicología es el estudio de los procesos cognoscitivos comportamentales y sus alteraciones cuando se encuentra presente un daño o disfunción cerebral. En el caso de la neuropsicología infantil, esta busca evaluar e intervenir los procesos cognitivos relacionados con el aprendizaje que influyen en el desempeño académico, social, familiar y adaptativo. Objetivo. Caracterización clínica de niños y adolescentes que consultaron en la unidad de neuropsicología del Instituto Neurológico de Colombia entre los años 2013 - 2018. Métodos. Investigación observacional, descriptiva y transversal para una sola muestra de pacientes. Se extrajeron 17.623 registros de pacientes menores de 18 años que consultaron al servicio de neuropsicología del Instituto Neurológico de Colombia. Se analizaron las variables de edad, sexo y diagnóstico, mediante análisis univariados y bivariados. Se empleó la Clasificación internacional de Enfermedades (CIE-10). Resultados. Los principales diagnósticos de la población infantil fueron perturbación de la actividad y de la atención (31.9%), trastorno mixto de las habilidades escolares (2.6%) y retraso mental leve: deterioro del comportamiento significativo que requiere atención o tratamiento (2.6%). Conclusiones. Estos resultados muestran los principales tipos de trastornos neuropsicológicos de la población perteneciente al departamento de Antioquia que consulta para valoración e intervención cognitiva, lo que favorece la implementación mecanismos de prevención, diagnóstico y tratamiento para la población infantil con alteraciones en el neurodesarrollo y sus familias, mejorando su funcionamiento social y escolar.

Introduction. Neuropsychology is the study of behavioral cognitive processes and their alterations when brain damage or dysfunction is present. In the case of childhood neuropsychology, it seeks to evaluate cognitive processes related to learning that influence academic, social, family and adaptive performance. Objective. Clinical characterization of children and adolescents who consulted in the neuropsychology unit of a Colombian Neurological Institute, between 2013 - 2018. Methods. Observational, descriptive and cross-sectional research for a single sample of patients. 17,623 records were extracted from patients under 18 who consulted the neuropsychology service of a neurological institute in the city. The variables of age, sex and diagnosis were analyzed, using univariate and bivariate analyses. The International Classification of Diseases (ICD-10) was used. Results. The main diagnoses of the child population were activity and attention disturbance (31.9%), a mixed disorder of school skills (2.6%), mild mental retardation: the significant decline of the behavior that requires attention or treatment. Conclusions. These results show the most frequent neuropsychologic diagnosis of the Antioquia department residents that consult for cognitive attention and treatment, this benefits the implementation of prevention, diagnosis and treatment mechanism for the infant population with neurodevelopment disturbance and their families, improving their social and school functioning.

Importancia de las arritmias cardiacas inducidas por tioridazina en las edades geriátricas / Importance of the heart arrhythmias induced by thioridazine in geriatric ages

RESUMEN Introducción: la discapacidad mental, íntimamente relacionada con el incremento de la expectativa de vida, se considera uno de los problemas más graves que hay que enfrentar en la centuria recién iniciada. Esto trae consigo el aumento de la prescripción de agentes anti psicóticos, como la tioridazina, lo que tiende a convertirse en un problema de salud al causar arritmias y en ocasiones fatales. Aún no se conoce en qué grado estas alteraciones son responsables de algunas muertes súbitas ocurridas en personas que tomaban estos medicamentos. Objetivo: identificar cuáles son las alteraciones clínicas y electrocardiográficas en los pacientes que usan la tioridazina, como droga de elección en los trastornos psiquiátricos. Materiales y métodos: se realizó un estudio descriptivo, a los ancianos atendidos en el Servicio de Geriatría que ingieran tioridazina, en cualquier dosis. Durante al período de marzo del año 2017 hasta marzo del 2018. Resultados: predominaron los ancianos del sexo femenino y comprendido en las edades 60 y 74 años, con nivel de escolaridad secundario, lo que se correlacionó con la doble función de la mujer en la sociedad actual, y el elevado nivel de escolaridad de la ciudadanía cubana. Predominaron antecedentes de hipertensión arterial y diabetes, al igual las palpitaciones en relación a un aumento de los bloqueos del has de his, observados en los electrocardiogramas. No se presentaron fallecidos. Conclusiones: deben utilizarse dosis bajas del medicamento, por corto tiempo y bajo supervisión electrocardiográfica (AU).

ABSTRACT Introduction: mental incapacity, tightly related to the life expectancy increase, is considered one of the most serious problems to afford in the current century. It brings about the increase of the prescription of anti-psychotic agents, like thioridazine, tending to become a health problem because of causing arrhythmias that are occasionally life-threatening. It is still unknown in what level these alterations are responsible for several sudden deaths in persons who took these drugs. Objective: to identify which are the clinical and electrocardiographic alterations in patients using thioridazine as drug of choice in psychiatric disorders. Materials and methods: a descriptive study was carried out in all patients who attended the Geriatric Service taking thioridazine in any doses during the period from March 2017 to March 2018. Results: female elder people aged 60-74 years predominated, with secondary school scholarship, finding a relationship with the double function of women in the current society, and the high level of scholarship among Cuban citizen. Arterial hypertension and diabetes antecedents predominated, and also palpitations related to the increase of His bundle blockade observed in electrocardiograms. There were no deaths. Conclusions: low doses of the drug should be used for a short time and under electrocardiographic supervision (AU).

Cognitive functions in children with congenital adrenal hyperplasia

ABSTRACT Objective There is controversy regarding cognitive function in patients with congenital adrenal hyperplasia (CAH). This study is aimed at the assessment of cognitive functions in children with CAH, and their relation to hydrocortisone (HC) therapy and testosterone levels. Subjects and methods Thirty children with CAH due to 21 hydroxylase deficiency were compared with twenty age- and sex-matched healthy controls. HC daily and cumulative doses were calculated, the socioeconomic standard was assessed, and free testosterone was measured. Cognitive function assessment was performed using the Wechsler Intelligence Scale - Revised for Children and Adults (WISC), the Benton Visual Retention Test, and the Wisconsin Card Sorting Test (WCST). Results The mean age (SD) of patients was 10.22 (3.17) years [11 males (36.7%), 19 females (63.3%)]. Mean (SD) HC dose was 15.78 (4.36) mg/m 2 /day. Mean (SD) cumulative HC dose 44,689. 9 (26,892.02) mg. Patients had significantly lower scores in all domains of the WISC test, performed significantly worse in some components of the Benton Visual Retention Test, as well as in the Wisconsin Card Sorting Test. There was no significant difference in cognitive performance when patients were subdivided according to daily HC dose (< 10, 10 - 15, > 15 mg/m 2 /day). A positive correlation existed between cumulative HC dose and worse results of the Benton test. No correlation existed between free testosterone and any of the three tests. Conclusion Patients with CAH are at risk of some cognitive impairment. Hydrocortisone therapy may be implicated. This study highlights the need to assess cognitive functions in CAH.

Síndrome de down: irmãos fazem diferença na qualidade de vida dos pais? / Síndrome de down: ¿hermanos hacen diferencia en la calidad de vida de los padres? / Down syndrome: siblings make difference in the quality of life of their parents?

RESUMO O objetivo deste estudo foi avaliar e discutir a influência da presença de irmãos com desenvolvimento típico na qualidade de vida (QV) de pais de adolescentes com síndrome de Down (SD). Tratou-se de um estudo qualitativo, transversal, descritivo e exploratório. A amostra foi formada por 25 famílias representadas por um cuidador, com filhos em idade entre dez e 19 anos. Essas famílias foram divididas em dois grupos: a) grupo de pais com filhos únicos com SD (GSDU) e b) grupo de pais com filhos com SD e outro (os) filho (os) com desenvolvimento típico (GSDI). Os participantes responderam à entrevista semiestruturada, cujo roteiro focalizava temas como o planejamento familiar, presença do irmão na família, relações entre os irmãos (para GSDI), o futuro do filho com SD e aspectos referentes aos sentimentos dos pais diante do nascimento do filho e da notícia. Os dados foram coletados em um único encontro, individualmente, com duração aproximada de 30 minutos. Os resultados evidenciam que a presença de irmãos com desenvolvimento típico pode mudar a estrutura e a dinâmica familiar, porém, não de forma a influenciar a melhor QV, já que os relatos de ambos os grupos foram muito parecidos.

RESUMEN El objetivo de este estudio fue evaluar y discutir la influencia de la presencia de hermanos con desarrollo típico en la calidad de vida (CV) de padres de adolescentes con síndrome de Down (SD). Se trata de un estudio cualitativo, transversal, descriptivo y exploratorio. La muestra fue formada por 25 familias representadas por un cuidador, con hijos en edad entre 10 y 19 años. Estas familias fueron divididas en dos grupos: a) grupo de padres con hijos únicos con SD (GSDU) y b) grupo de padres con hijos con SD y otro (s) hijo (s) con desarrollo típico (GSDI). Los participantes respondieron a la entrevista semiestructurada, cuyo itinerario enfocaba temas como la planificación familiar, presencia del hermano en la familia, relaciones entre los hermanos (para GSDI), el futuro del hijo con SD y aspectos referentes a los sentimientos de los padres ante el nacimiento del hijo y de las noticias. Los datos fueron recolectados en un solo encuentro, individualmente, con una duración de cerca de 30 minutos. Los resultados evidencian que la presencia de hermanos con desarrollo típico puede cambiar la estructura y la dinámica familiar, pero no para influir en una mejor CV, ya que los relatos de ambos grupos fueron muy parecidos.

ABSTRACT The objective of this study was to evaluate and to discuss the influence of the presence of siblings with typical development on the quality of life (QoL) of parents of adolescents with Down Syndrome (DS). It was a qualitative, cross-sectional, descriptive and exploratory study. The sample consisted of 25 families represented by the caregiver with children aged from 10 to 19 years old. These families were divided in two groups: a) a group of parents with single child with DS (GDSU) and b) group of parents with children with DS and other(s) with typical development (GDSI). Participants answered the semi structured interview whose script focused on topics such as family planning, the presence of the sibling in the family, relationships among the siblings (for GDSI), the future of the child with DS, and aspects related to the parents' feelings about the birth of the child and of the news on his coming to their family. Data were collected, individually, in a single meeting with approximately 30 minutes of duration. The results indicate that the presence of siblings with typical development can change the family structure and dynamics, but not in order to influence a better QoL, since the reports of both groups were very similar.

Construção e validação de um aplicativo de identificação das habilidades adaptativas de crianças e adolescentes com deficiência intelectual / Construction and validation of an application to identify the adaptive skills of children and adolescents with intellectual disabilities

Introdução: Essa tese é resultado de estudos sobre a deficiência intelectual (DI) em relação as habilidades adaptativas práticas, sociais e conceituais. Com o intuito de problematizar um cenário de falta de instrumentos capazes de avaliar as referidas habilidades, consistiu na elaboração de um aplicativo apto a auxiliar o processo avaliativo de indivíduos com DI. Objetivo: Construir um aplicativo projetado para identificar habilidades adaptativas práticas, sociais e conceituais de crianças e adolescentes com DI, com base na teoria de Lev Vygotsky. Método: Estudo multimétodo com procedimentos quantitativos e qualitativos realizado em três etapas, em uma instituição filantrópica na cidade de Campina Grande, Paraíba, Brasil. Na primeira etapa, foi realizado estudo transversal em prontuários de 450 usuários com DI. Os dados foram tabulados e analisados por meio do programa Statistical Package for the Social Sciences® versão 20.0 (SPSS). Na segunda etapa, foi realizada uma pesquisa descritiva com aplicação de um questionário sobre as habilidades adaptativas. A análise dos dados foi dividida em dois momentos. No primeiro, considerou-se os 200 questionários dos 100 cuidadores e 100 pessoas com DI, sobre habilidades adaptativas práticas. Depois, foram abordadas as habilidades adaptativas sociais e conceituais, considerando os 100 cuidadores, nove professores e 100 pessoas com DI. Ao todo foram administrados 300 questionários aplicados com participantes. Os dados foram processados pela Análise Fatorial de Correspondência no programa Tri-deux-Mots. A terceira etapa foi conduzida, em três fases: (1) realização de validação de conteúdo das imagens a serem utilizadas no aplicativo Autonomy, por meio do programa SurveyMonkey, iniciando o processo de informatização do aplicativo; (2) avaliação dos atributos de qualidade, por doze profissionais da saúde e da educação, por meio de um grupo focal e por dois profissionais da computação, mediante um questionário via e-mail; e (3) validação clínica do aplicativo Autonomy, com a participação de 200 crianças e adolescentes com DI, por meio da análise fatorial exploratória (AFE), que foi procedida utilizando o software FACTOR versão 9.20 para a validação dos itens que compunham o aplicativo, excluindo aqueles que não alcançaram cargas fatoriais maiores que 0,3. Resultados: Na primeira etapa, estudando o perfil demográfico dos usuários da instituição pesquisada, encontrou-se que 61,4% dos usuários não sabem ler nem escrever e 12,2% sabem, sendo esta última mais representativa em famílias com renda igual ou superior a um salário mínimo (56,4%) e com mais 13 anos de idade (90,9%). Na segunda etapa, constatou-se que o grupo de pessoas com DI de escolaridade mais avançada, quando comparado aos outros grupos, demonstrou mais indicativos de autonomia em relação ao desempenho de atividades da vida diária e de atividades instrumentais da vida diária. No tocante às habilidades conceituais, os alunos revelaram ter autonomia em relação às atividades escolares, o que não coincidiu com a opinião dos cuidadores e professores. Na terceira etapa, verificou-se que as imagens que compõem o Autonomy apresentaram um índice de validade de conteúdo acima de 80%. Na avaliação dos atributos de qualidade, o grupo focal fez sugestões de alterações como gravação do áudio, tela de instruções para os emojis e outras, as quais foram acatadas e melhoraram o desempenho do aplicativo. Com a AFE, observou-se evidências de que o aplicativo possui itens confiáveis. Foram excluídos os itens _acordar', _assistir TV', _se reunir com a família', _animal de estimação' e _estudar com ajuda'. Conclusão: Pessoas com DI apresentam tempo diferenciado de aprendizado de leitura e escrita. Contudo, mais importante do que saber ler e escrever é saber utilizar e atribuir sentido a sua prática. O problema do diagnóstico deixa em evidência tanto a dificuldade de atuação dos profissionais da saúde, como os instrumentos existentes (cognitivos ou de avaliação das habilidades adaptativas) que não são válidos para auxiliar 14 no diagnóstico. Os profissionais da educação e da saúde e os cuidadores podem colaborar de forma mais efetiva no desenvolvimento da autonomia das pessoas com DI, promovendo ambiente mais interativo e que favoreça o desenvolvimento de tais habilidades. A construção do aplicativo Autonomy foi avaliada de forma adequada pelos profissionais da saúde, da educação e da computação, proporcionado a identificação das habilidades adaptativas dos indivíduos com DI.

Introduction: This thesis is the result of studies about intellectual disability (ID) in relation to practical, social and conceptual adaptive skills. In order to problematize a scenario of lack of instruments capable of evaluating said abilities, it consisted in the elaboration of an applicator able to assist the evaluation process of individuals with ID. Objective: To construct an applicator designed to identify practical, social and conceptual adaptive skills of children and adolescents with ID, based on Lev Vygotsky's theory. Methodology: A multi-method study with quantitative and qualitative procedures carried out in three stages at a philanthropic institution in the city of Campina Grande, Paraíba, Brazil. In the first stage, a cross-sectional study was carried out in the medical records of 450 IDP users. The data were tabulated and analyzed through the Statistical Package for the Social Sciences® version 20.0 (SPSS) program. In the second step, a descriptive research was carried out with the applicator of a questionnaire on adaptive skills. The analysis of the data was divided in two moments. In the first one, we considered the 200 questionnaires of 100 caregivers and 100 people with ID on practical adaptive skills. Then, we approached the social and conceptual adaptive skills, considering the 100 caregivers, nine teachers and 100 people with ID. In all, 300 questionnaires were administered with participants. The data were processed by Factorial Matching Analysis in the Tri-deux-Mots program. The third step was conducted in three phases: (1) validation of content of the images to be used in the applicator Autonomy, through the program SurveyMonkey, initiating the process of computerization of the applicator; (2) evaluation of quality attributes by twelve health and education professionals, through a focus group and two computer professionals, through a questionnaire via e-mail; and (3) clinical validation of the Autonomy applicator, with the participation of 200 children and adolescents with DI, through exploratory factorial analysis (AFE), which was performed using FACTOR software version 9.20 for validation of the items that composed the application, excluding those that did not reach factorial loads greater than 0.3. Results: In the first stage, studying the demographic profile of the users of the institution studied, it was found that 61.4% of users do not know how to read or write and 12.2% know, the latter being more representative in families with equal or higher income to a minimum wage (56.4%) and a 13-year-old (90.9%). In the second stage, it was verified that the group of people with ID of more advanced schooling, when compared to the other groups, showed more indicative of Autonomy in relation to the performance of activities of daily living and instrumental activities of daily life. Regarding the conceptual skills, the students showed Autonomy in relation to the school activities, which did not coincide with the opinion of the caregivers and teachers. In the third step, it was verified that the images that make up the Autonomy presented a index of validity of content above 80%. In assessing quality attributes, the focus group made suggestions for changes such as audio recording, emoji instruction screen and others, which were followed and improved application performance. With AFE, there was evidence that the applicator has trusted items. The items 'wake up', 'watch TV', 'reunite with family', 'pet' and 'study with help' were excluded. Conclusion: People with ID have a differentiated learning time for reading and writing. However, it is more important to know how to use and give meaning to your practice than reading and writing. The problem of diagnosis reveals both the difficulty of health professionals and the existing instruments (cognitive or assessment of adaptive skills) that are not valid to aid in diagnosis. Education and health professionals and caregivers can collaborate more effectively in developing the autonomy of people with ID, promoting a more interactive environment that favors the development of such skills. The construction of the Autonomy 16 applicator was adequately evaluated by health, education and computing professionals, providing the identification of the adaptive skills of individuals with ID.

Psicosis, Discapacidad intelectual y trastornos conductuales: enfoque biopsicosocial / Psychosis, intellectual disability and behavioral disorders: biopsychosocial approach

Caso Clínico: Mujer, 23 años. Discapacidad intelectual. Asiste a colegio especial (no lee ni escribe). Institucionalizada. Motivo de ingreso: Paciente ingresa en octubre del 2017 traída por carabineros por ser encontrada en la calle bajo el efecto de múltiples sustancias, con ideación suicida. Días antes fue expulsada del hogar por agresión a cuidadoras. Diagnósticos de ingreso: Discapacidad intelectual moderado. Síndrome suicidal, Trastorno por dependencia a drogas. ¿Esquizofrenia hebefrénica? Evolución: Mantiene desajustes conductuales severos fluctuantes, con serias dificultades para manejar la rabia, lo que la lleva a tener conductas hetero y autoagresivas. Plan de tratamiento: Farmacológico (clozapina), Psicológico (TCC), Social (dispositivo adecuado post-alta). Clozapina para trastornos psicóticos en adultos con discapacidad intelectual. El principal riesgo de atribuir alguno de estos comportamientos a una supuesta "psicosis", es el de "medicalizar" y tratar de forma poco acertada. Es importante descartar factores ambientales y del aprendizaje (hábitos y conductas aprendidas, institucionalización, reacciones ante el estrés agudo.) La prevalencia de abuso y dependencia de sustancias en población con DI va desde el 0,5% al 2,6%. Lo cual es menor que la población general. Pacientes con DI y dependencia a drogas se asocia a otras enfermedades psiquiátricas (42-54%). Se ha informado que las personas con discapacidad intelectual en América Latina a menudo están institucionalizadas y escondidas de la sociedad en instalaciones deficientes y superpobladas.

Clinical Case: Female, 23 years old. Intellectual disability. He attends a special school (she does not read or write). Institutionalized. Reason for admission: Patient enters in October 2017 brought by police officers to be found in the street under the effect of multiple substances, with suicidal ideation. Days before she was expelled from the home because of assaulting caregivers. Admission diagnoses: Moderate intellectual disability. Suicidal syndrome, Disorder due to drug dependence. Hebephrenic schizophrenia? Evolution: Maintains fluctuating severe behavioral imbalances, with serious difficulties in managing rage, which leads to hetero and self-aggressive behaviors. Treatment plan: pharmacological (clozapine), Psychological (CBT), Social (adequate post-hospitalization discharge device). Clozapine for psychotic disorders in adults with intellectual disabilities. The main risk of attributing some of these behaviors to a supposed "psychosis" is that of "medicalizing" and dealing inappropriately. It is important to rule out environmental and learning factors (habits and behaviors learned, institutionalization, reactions to acute stress. The prevalence of substance abuse and dependence in the population with ID ranges from 0.5% to 2.6%. Which is less than the general population. Patients with ID and drug dependence are associated with other psychiatric illnesses (42-54%). It is reported that people with intellectual disabilty in Latin America are often institutionalized and hidden from society in poor and overcrowded facilities.

Repercusión familiar de los diagnósticos de retraso mental leve y trastorno de conducta / Family Repercussion of the Diagnoses of Mild Mental Retardation and Conduct Behavior

Introducción: Los diagnósticos de retraso mental leve y trastorno de conducta son eventos paranormativos con grandes posibilidades de repercusión familiar. La investigación que se realizó es novedosa pues no existen antecedentes de estudios en los que se comparen los resultados de ambas entidades diagnósticas. Se asumió como principal sustento teórico la propuesta que realizara Patricia Herrera Santí en su tesis doctoral de 2010, enriquecida junto a Idarmis González (2013). Objetivo: Determinar la repercusión familiar de los diagnósticos de retraso mental leve y trastorno de la conducta en el período comprendido entre octubre y noviembre de 2015. Métodos: Se realizó un estudio de tipo descriptivo con un diseño de investigación no experimental y una metodología mixta o cuanti-cualitativa. La muestra estuvo conformada por 20 familias, dividida a su vez en dos submuestras de 10 familias cada una, la primera contaba entre sus miembros con un menor diagnosticado de retraso mental leve, y la segunda la integraban otras 10 familias con un miembro diagnosticado con trastorno de la conducta. Se aplicó el Instrumento de Repercusión Familiar y una entrevista semi-estructurada. Resultados: El nivel de repercusión general fue moderado en su mayoría en ambas categorías diagnósticas, predominando un sentido de la repercusión desfavorable y un impacto predisponente a la afectación de la salud familiar. Conclusiones: Los diagnósticos de retraso mental leve y trastorno de conducta repercutieron en las familias evaluadas, exigiendo en estas algunos cambios en su dinámica interna y modo de vida(AU)

Introduction: The diagnoses of mild mental retardation and conduct disorder are paranormative events with great possibilities of family repercussion. The research conducted is novel because there are no previous studies comparing the results of both diagnostic entities. The proposal that Patricia Herrera Santí presents in her 2010 doctoral dissertation was assumed as the main theoretical support, enriched together with Idarmis González (2013). Objective: To determine the family repercussion of the diagnoses of mild mental retardation and conduct disorder in the period between October and November 2015. Methods: A descriptive study was carried out with a non-experimental research design and a mixed or quantitative-qualitative methodology. The sample consisted of 20 families, divided in turn into two subsamples of 10 families each, the first had among its members a minor diagnosed with mild mental retardation, while the second was composed of 10 other families with a member diagnosed with conduct disorder. The Family Repercussion Instrument and a semi-structured interview were applied. Results: The level of general repercussion was mostly moderate in both diagnostic categories, with a predominance of unfavorable repercussions and a predisposing repercussion on family health. Conclusions: The diagnoses of mild mental retardation and conduct disorder affected the families evaluated, demanding from these some changes in their internal dynamics and way of life(AU)

Desempenho cognitivo através do mini-exame do estado mental na distrofia muscular de Duchenne / Cognitive performance by mini mental state examination in Duchenne muscular dystrophy

OBJETIVO: A distrofia muscular de Duchenne (DMD) é frequentemente associada à deficiência intelectual (DI) e ao prejuízo de funções superiores como leitura, raciocínio, lógica, e memória. O objetivo do estudo foi avaliar o desempenho cognitivo de pacientes com DMD através do Mini-Exame do Estado Mental (MEEM), um teste simples e rápido, usado como primeiro rastreio intelectual, principalmente quando baterias psicométricas complexas, dependentes de psicólogos especializados, não estão disponíveis. MÉTODO: Foi realizado um estudo observacional de trinta e quatro meninos com DMD, com idades entre 8 e 22 anos, separados em dois grupos de acordo com a presença de DI moderada-grave, conforme a definição clínica do funcionamento adaptativo do Manual Estatístico e Diagnóstico de Desordens Mentais 5º edição (DSM-5). Foram avaliados a pontuação no MEEM, marcos do desenvolvimento, independência nas atividades de vida cotidiana e capacidade de alfabetização. RESULTADOS: Os marcos motores e de linguagem estavam atrasados (16 meses), e a média no MEEM foi 21, ponto de corte mais baixo do que verificado em pares da mesma idade. O grupo com DI moderada-grave apresentou uma média de 12 no MEEM, e os subtestes de orientação, atenção e cálculo e linguagem foram os que demonstraram piores desempenhos. O ponto de corte de maior acurácia para distinguir DI moderada-grave nos pacientes com DMD foi 21. CONCLUSÃO: O MEEM apresentou adequada sensibilidade (100%) e especificidade (90%) para o ponto de corte de 21, revelando-se um bom método de triagem cognitiva para DI moderada-grave na DMD.

BACKGROUND: Duchenne muscular dystrophy (DMD) is often associated with intellectual disability (ID) and with impairment of higher mental functions as reading, learning, logical thinking and memory. The goal of this study was evaluate the cognitive performance of DMD patients by Mini-Mental State Examination (MMSE), first bedside screening test, widely used in pediatrics, when neuropsychologic batteries, dependent on specialized psychologists, are not easily available in public health system. METHODS: An observational study of thirty-four boys with DMD, aged 8-22 years, was performed, spliting this group into two sub-groups, according to the presence of moderate-severe, defined by Diagnostic and Statistical Manual of Mental Disorders (DSM-5) adaptative functioning clinical criteria. The MMSE scores, developmental milestones, independence in daily life activities and literacy skills were evaluated. RESULTS: Motor and language milestones were reached with 16 months, later than usual and mean on MMSE was 21, lower than in healthy pairs. In assessment by groups, patients with moderate-severe intellectual disability presented a performance in total MMSE (12) and orientation, attention/calculation and language MMSE subtests lower than patients without ID. The most accurate cutoff value on MMSE to distinguish moderate-severe intellectual disability in DMD patients was 21. CONCLUSION: This study has shown adequate sensitivity and specificity of the MMSE for detection of moderate-severe intellectual disability, with almost 100% sensitivity and 90% specificity for cutoff values of 21 points in DMD.