Caracterización del desarrollo en niños con síndrome de Down de 5-12 años de edad en Bogotá (Colombia) / Developmental characteristics in children with Down syndrome from ages 5 to 12 in Bogotá, Colombia

Introducción: El procesamiento cognitivo y las habilidades de aprendizaje son ampliamente variables en personas con síndrome de Down (SD). La progresión de las habilidades del desarrollo se comporta de una manera diferente a como lo hace en los niños con un desarrollo típico. Por tanto, la caracterización y comprensión de los niños con SD es importante para elaborar estrategias de intervención y programas de seguimiento. Objetivos: Establecer un perfil de desarrollo cognitivo en niños con SD. Materiales y métodos: Estudio observacional, descriptivo y transversal de 93 niños de 5-12 años de edad, de 3 instituciones de salud en Bogotá (Colombia). Para la evaluación, se usaron el Inventario de Desarrollo de Battelle (BDI-2) y la Evaluación Neuropsicológica Infantil (ENI). El comité de ética institucional aprobó el estudio. Resultados: Los cocientes de desarrollo obtenidos en los niños con SD estuvieron por debajo de los datos normativos que se presentan en los niños con un desarrollo típico en todas las áreas evaluadas. Los perfiles neurocognitivos mostraron una tendencia ascendente discreta, en función de la edad. Las áreas que se desarrollaron más fuertemente fueron el comportamiento adaptativo, las habilidades sociales y el control motor grueso. Conclusiones: Los resultados obtenidos permitieron establecer una curva que muestra la progresión de las habilidades de aprendizaje que presentan los niños con SD. Además, las áreas específicas en que los niños se desempeñan de una manera más eficiente, y aquellas en las que tienen importantes fallos o dificultades, se ilustran en gráficos de forma independiente; a saber, el control motor grueso y las habilidades sociales son áreas en que los niños con SD muestran habilidades significativas, mientras que la comunicación, el lenguaje y el procesamiento cognitivo están menos desarrollados

Introduction: Cognitive processing and learning skills are widely variable amongst individuals with Down syndrome (DS). The achievement of developmental milestones behaves in a different way than it does in children with typically development. Thus, the characterization and understanding of children with DS is important to elaborate intervention strategies and follow-up programs. Objectives: To establish a cognitive developmental profile in children with DS. Materials and Methods: Observational, descriptive, cross-sectional study of 93 children between the ages of 5 and 12, among three health institutions in Bogotá (Colombia). For assessment, the Battelle Developmental Inventory (BDI-2) and the Child Neuropsychological Evaluation (ENI) were used. The institutional review board approved the study. Results: Developmental quotients were below than normative data for typically developed children in all evaluated domains. The neurocognitive profiles exhibited a discretely, age dependent, ascendant tendency, the areas that were more strongly developed were adaptive behavior, social skills and gross motor control. Conclusions: The obtained results allowed to design a curve that comprehensively shows the skills in learning that children with DS show. Furthermore, it showed the specific areas in which children perform in a more efficient manner, and those in which they have major setbacks or pitfalls. Namely, gross motor control and social skills, are areas in which children with DS have significant skills, whilst communication, language and cognitive processing are less developed

Alteraciones auditivas y desarrollo del lenguaje en niños con síndrome de Down: revisión sistemática de la literatura / Auditory alterations and language development in children with Down syndrome: Systematic review

Introducción: El síndrome de Down (SD) es la anormalidad cromosómica más frecuente; hasta dos tercios de los niños con SD presenta una posible pérdida auditiva que puede comprometer el desarrollo del lenguaje. El objetivo de esta revisión es describir la prevalencia de la pérdida auditiva en niños con SD, los factores de riesgo y su relación con el desarrollo del lenguaje. Metodología: Revisión sistemática de la literatura. Se identificaron 69 artículos a través de las bases de datos PubMed, Science Direct y Scopus. En función de los criterios de inclusión, se escogieron 35 artículos. Resultados: La prevalencia de pérdida auditiva en niños con SD oscila entre el 34 y el 36%. La alteración de tipo conductivo asociada a otitis media con efusión y un canal auditivo estrecho son los factores de riesgo más frecuentes. La implantación de tubos de timpanostomía demuestra unos índices de curación de la otitis media y una mejoría de la agudeza auditiva significativamente menores que en la población general. Otro tipo de implantes, como el BAHA (bone anchored hearing aids) y el coclear, muestran beneficios sobre la calidad de vida y el desempeño físico y social; sin embargo, los estudios realizados al respecto adolecen de una muestra limitada que no permite sacar conclusiones. Finalmente, no existe evidencia de una relación directa entre la pérdida auditiva y el desarrollo del lenguaje en niños con SD. Conclusiones: Se debe realizar un cribado auditivo en el periodo neonatal y un seguimiento con un diagnóstico adecuado de las in-fecciones del oído durante toda la infancia en los niños con SD, lo que permitiría establecer un tratamiento apropiado y disminuir las posibles alteraciones del lenguaje (AU)

Introduction: Down syndrome (DS) is the most frequent chromosomal abnormality; nearly two-thirds of children with DS may develop hearing loss and delayed or abnormal language development. The aim of this review was to describe the frequency of hearing loss in children with DS, its relationship with language development and risk factors for its clinical presentation. Methodology: Systematic review of literature. 69 articles were identified through database searching on PubMed and Scopus. 35 articles met selection and inclusion criteria. Results: The prevalence of hearing loss in children with DS ranges between 34% and 36%. Conductive hearing loss is frequently as-sociated with effusive otitis media, and a narrow auditory canal. The implantation of tympanostomy tubes showed lower success rates in otitis media and improvement of hearing in comparison to healthy children. Other type of hearing aids such as BAHA (bone an-chored hearing aids) and cochlear implants have shown possible benefits in quality of life, physical and social performance. Finally, there is no evidence of a direct relation between hearing loss or other disabilities in language development in these children. Conclusions: Hearing screening should be done in the neonatal period and follow-up with a timely diagnosis of childhood ear infections in children with DS in order to provide accurate and timely interventions (AU)

Trastorno por déficit de atención e hiperactividad: de padres a hijos / Attention deficit hyperactivity disorder: from parents to children

Introducción. En el trastorno por déficit de atención e hiperactividad (TDAH), la heredabilidad ha sido reconocida en múltiples estudios. En este sentido, se ha observado una mayor frecuencia del trastorno en niños con familiares afectados. El objetivo fue determinar la asociación entre la presencia de síntomas de TDAH en niños escolares de 5 instituciones educativas de Bogotá y el antecedente de síntomas de TDAH en sus padres utilizando el cuestionario de Wender-Utah. Metodología. Estudio de casos y controles seleccionados de acuerdo con los criterios DSM-IV para TDAH, la escala multifuncional de la conducta (BASC) para padres y maestros y WISC-IV para descartar déficit cognitivo. A los padres se les aplicó un cuestionario de Wender-Utah para identificar de manera retrospectiva síntomas de TDAH en su infancia. Un score de 36 fue tomado como punto de corte. Resultados. De 202 niños disponibles, 117 fueron casos y 85 controles. Un 16% de 175 madres y un 20,6% de 141 padres tuvieron antecedentes positivos para síntomas de TDAH en la infancia. La presencia de síntomas en alguno de los progenitores, principalmente en la madre, es un factor de riesgo significativo para la presencia de TDAH en los niños y esta relación persiste si se controla por diferentes variables. Si los 2 progenitores tienen el cuadro, existe una tendencia a que el riesgo aumente. Conclusión. A pesar de que el TDAH se ha asociado a un componente genético, otros factores del entorno pueden estar involucrados en la génesis del trastorno (AU)

Introduction. Multiple studies of attention deficit hyperactivity disorder (ADHD) have recognised a heritability factor in that a higher frequency of the disorder is observed in children with an affected relative. Our aim was to determine the association between ADHD symptoms in young children enrolled in five schools in Bogota and a history of ADHD symptoms in their parents using the Wender-Utah Rating Scale. Methodology. Case-control study of participants selected according to DSM-IV criteria for ADHD and the Behavioral Assessment System for Children (BASC) completed by parents and teachers; the WISC-IV scale was used to exclude children with cognitive deficit. Parents completed the Wender-Utah Rating Scale to retrospectively identify any ADHD symptoms in childhood. A score of 36 was used as a cutoff point. Results. The study included 202 children: 117 cases and 85 controls. A positive history of ADHD symptoms in childhood was identified for 16% of 175 mothers and 20.6% of 141 fathers. The presence of symptoms in either parent, especially the mother, constitutes a significant risk factor for ADHD in children and this relationship persists after controlling for different variables. If both parents have the disorder, the risk tends to increase. Conclusion. Although ADHD has been linked to a genetic component, other environmental factors may be involved in the disorder (AU)

Attention deficit hyperactivity disorder: From parents to children. / Trastorno por déficit de atención e hiperactividad: de padres a hijos.

INTRODUCTION: Multiple studies of attention deficit hyperactivity disorder (ADHD) have recognised a heritability factor in that a higher frequency of the disorder is observed in children with an affected relative. Our aim was to determine the association between ADHD symptoms in young children enrolled in five schools in Bogota and a history of ADHD symptoms in their parents using the Wender-Utah Rating Scale. METHODOLOGY: Case-control study of participants selected according to DSM-IV criteria for ADHD and the Behavioral Assessment System for Children (BASC) completed by parents and teachers; the WISC-IV scale was used to exclude children with cognitive deficit. Parents completed the Wender-Utah Rating Scale to retrospectively identify any ADHD symptoms in childhood. A score of 36 was used as a cutoff point. RESULTS: The study included 202 children: 117 cases and 85 controls. A positive history of ADHD symptoms in childhood was identified for 16% of 175 mothers and 20.6% of 141 fathers. The presence of symptoms in either parent, especially the mother, constitutes a significant risk factor for ADHD in children and this relationship persists after controlling for different variables. If both parents have the disorder, the risk tends to increase. CONCLUSION: Although ADHD has been linked to a genetic component, other environmental factors may be involved in the disorder.

Evidencia de asociación entre el genotipo 10/10 de DAT1 y endofenotipos del trastorno por déficit de atención/hiperactividad / Evidence of an association between 10/10 genotype of DAT1 and endophenotypes of attention deficit/hyperactivity disorder

Introducción: La variancia genética del trastorno por déficit de atención e hiperactividad (TDAH) es determinante para el fenotipo. La repetición en tándem en número variable (VNTR) de 40 pares de bases (pb) en la región no traducida 3’ (UTR) del gen DAT1 se ha asociado ala susceptibilidad de presentar TDAH debido al incremento de expresión del transportador de dopamina. Objetivo: Determinar la asociación entre el VNTR del DAT1 y el fenotipo y/o endofenotipos del TDAH en una muestra de niños de 6 a 15 años de la ciudad de Bogotá. Sujetos y métodos: Se seleccionó a 73 pacientes con TDAH y 54 controles. En todos los individuos se realizó una prueba de WISC y se valoraron las funciones ejecutivas. Mediante reacción en cadena de la polimerasa se amplificó el VNTR de DAT1. Se establecieron estadísticos genético-poblacionales, análisis de asociación y correlación entre las pruebas neuropsicológicas y el genotipo. Resultados: El polimorfismo del DAT1 no mostró asociación con TDAH (p = 0,85). Sin embargo, el genotipo 10/10 evidenció asociación con el índice de velocidad de procesamiento (p < 0,05). En el subtipo hiperactividad hubo correlación genotípica con subpruebas de la función ejecutiva (flexibilidad cognitiva) (p ≤ 0,01). En el subgrupo mixto, el genotipo 10/10 se asoció al índice de comprensión verbal del WISC (p < 0,05). Conclusiones: Se encontró una correlación entre el genotipo del VNTR de DAT1 con la subprueba «índice de velocidad de procesamiento» del WISC y la subprueba «flexibilidad cognitiva» de la función ejecutiva. Este es el primer reporte que evalúa el gen DAT1 en población colombiana con TDAH

Introduction: Genetic variance of attention deficit-hyperactivity disorder (ADHD) is a strong determinant of this disorder. The 40 base pairs (bp) variable number tandem repeat (VNTR) located in the 3’ untranslated region (UTR) of DAT1 gene increases the expression of the dopamine transporter. Therefore, DAT1 has been associated with susceptibility to ADHD. Objective: To determine the association between the VNTR of DAT1 and the phenotype of ADHD or its endophenotypes in a sample of children aged between 6 and 15 years from Bogotá. Subjects and methods: We selected 73 patients with ADHD and 54 controls. WISC test was applied in all subjects and executive functions were assessed. The VNTR of DAT1 was polymerase chain reaction-amplified. Data regarding population genetics and statistical analysis were obtained. Correlation and association tests between genotype and neuropsychological testing were performed. Results: The DAT1 polymorphism was not associated with ADHD (P=.85). Nevertheless, the 10/10 genotype was found to be correlated with the processing speed index (P<.05). In the hyperactivity subtype, there was a genotypic correlation with some subtests of executive function (cognitive flexibility) (P≤.01). In the combined subtype, the 10/10 genotype was associated with verbal comprehension index of WISC (P<.05). Conclusions: A correlation was found between DAT1 VNTR and the subtest 'processing speed index' of WISC and the subtest 'cognitive flexibility' of executive functions. To our knowledge, this is the first report to assess DAT1 gene in a Colombian population

Evidence of an association between 10/10 genotype of DAT1 and endophenotypes of attention deficit/hyperactivity disorder.

INTRODUCTION: Genetic variance of attention deficit-hyperactivity disorder (ADHD) is a strong determinant of this disorder. The 40 base pairs (bp) variable number tandem repeat (VNTR) located in the 3' untranslated region (UTR) of DAT1 gene increases the expression of the dopamine transporter. Therefore, DAT1 has been associated with susceptibility to ADHD. OBJECTIVE: To determine the association between the VNTR of DAT1 and the phenotype of ADHD or its endophenotypes in a sample of children aged between 6 and 15 years from Bogotá. SUBJECTS AND METHODS: We selected 73 patients with ADHD and 54 controls. WISC test was applied in all subjects and executive functions were assessed. The VNTR of DAT1 was polymerase chain reaction-amplified. Data regarding population genetics and statistical analysis were obtained. Correlation and association tests between genotype and neuropsychological testing were performed. RESULTS: The DAT1 polymorphism was not associated with ADHD (P=.85). Nevertheless, the 10/10 genotype was found to be correlated with the processing speed index (P<.05). In the hyperactivity subtype, there was a genotypic correlation with some subtests of executive function (cognitive flexibility) (P≤.01). In the combined subtype, the 10/10 genotype was associated with verbal comprehension index of WISC (P<.05). CONCLUSIONS: A correlation was found between DAT1 VNTR and the subtest "processing speed index" of WISC and the subtest "cognitive flexibility" of executive functions. To our knowledge, this is the first report to assess DAT1 gene in a Colombian population.

Learning skills and academic performance in children and adolescents with absence epilepsy.

INTRODUCTION: Although cognitive and learning disorders have been described in patients with epilepsy, very few studies focus on specific disorders such as absence epilepsy. The aim of this study was to evaluate learning skills and academic performance in children and adolescents with absence epilepsy. METHODS: Observational case-control study. Cases were chosen from the Central League against Epilepsy's clinic in Bogotá, Colombia. Controls were selected from a private school and matched with cases by age, school year, and sex. Medical history, seizure frequency, antiepileptic treatment, and academic performance were assessed. Academic abilities were tested with Batería de Aptitudes Diferenciales y Generales (BADyG) (a Spanish-language test of differential and general aptitudes). Data were analysed using Student t-test. RESULTS: The sample consisted of 19 cases and 19 controls aged between 7 and 16. In 15 patients, seizures were controlled; all patients had received antiepileptic medication at some point and 78.9% were actively being treated. Although cases had higher rates of academic failure, a greater incidence of grade retention, and more therapeutic interventions than controls, these differences were not significant. Similarly, there were no significant differences on the BADyG test, except for the immediate memory subcategory on which cases scored higher than controls (P=.0006). CONCLUSION: Children treated pharmacologically for absence epilepsy, whose seizures are controlled, have normal academic abilities and skills for their age.

Evaluación de la función ejecutiva en una población escolar con síntomas de déficit de atención e hiperactividad / Evaluating executive function in schoolchildren with symptoms of attention deficit hyperactivity disorder

Objetivo: Determinar las alteraciones de las funciones ejecutivas (FE) en niños con trastorno por déficit de atención e hiperactividad (TDAH). Sujetos y métodos: Se realizó un estudio de casos y controles con una muestra de estudiantes de colegios de Bogotá, Colombia, pertenecientes a los estratos socioeconómicos bajos. El diagnóstico de TDAH se realizó con la lista de chequeo del DSM IV y la escala multidimensional de BASC. Se descartaron los niños que presentaban trastornos cognitivos. Se evaluó el desempeño en 6 medidas de funciones ejecutivas. Se realizaron un análisis bivariado entre variables, un estudio multivariado controlado por sexo y edad, y una regresión logística condicional. Resultados: Se estudió a 119 niños con síntomas de TDAH y 85 controles con edades comprendidas entre 6 y 13 años. Cuando se controlaron por sexo, edad y tipo de colegio, los niños con TDAH tuvieron un mayor compromiso que los controles en las medidas de FE correspondientes a fluidez verbal y gráfica, figura compleja de Rey-Osterrieth y flexibilidad cognitiva. Cuando se compararon los subgrupos de TDAH, no hubo diferencias entre el grupo mixto con el general. Los casos con inatención sola e hiperactividad-impulsividad sola presentaron dificultades en fluidez gráfica. Conclusiones: Los niños con síntomas de TDAH presentan mayores problemas en medidas de las FE especialmente en planeación, inhibición, memoria de trabajo y control cognitivo. Parece existir posiblemente una heterogeneidad entre el trastorno de las FE respecto del sexo y la edad (AU)

Objective: To identify impairment of executive functions (EF) in children with attention deficit hyperactivity disorder (ADHD). Subjects and methods: A case-control study was performed on a sample of schoolchildren with low socioeconomic levels in Bogota, Colombia. ADHD was diagnosed using the DSM IV checklist and the Behavior Assessment System for Children scale. Children with cognitive deficits were excluded. We evaluated scores from six measurements of executive function (EF). We conducted a bivariate statistical analysis to compare the variables, a multivariate study controlled by sex and age, and a logistic regression analysis. Results: The study sample included 119 children with ADHD and 85 controls, all aged between 6 and 12 years. Controlling by sex, age, and type of school showed that EF measurements in children with ADHD were significantly more impaired than in controls, especially for measurements of verbal and graphic fluency, Rey-Osterrieth Complex Figure, and cognitive flexibility. Comparison of ADHD subgroups showed that results in children with multiple deficits were similar to those in the global ADHD group. Graphic fluency impairment was the sole impairment in cases with only attention deficit or only hyperactivity-impulsivity manifestations. Conclusions: EF measures in children with ADHD revealed more problems, particularly those having to do within planning, inhibition, working memory and cognitive control. Age and sex may affect the degree of EF impairment (AU)

Evaluating executive function in schoolchildren with symptoms of attention deficit hyperactivity disorder.

OBJECTIVE: To identify impairment of executive functions (EF) in children with attention deficit hyperactivity disorder (ADHD). SUBJECTS AND METHODS: A case-control study was performed on a sample of schoolchildren with low socioeconomic levels in Bogota, Colombia. ADHD was diagnosed using the DSM IV checklist and the Behavior Assessment System for Children scale. Children with cognitive deficits were excluded. We evaluated scores from six measurements of executive function (EF). We conducted a bivariate statistical analysis to compare the variables, a multivariate study controlled by sex and age, and a logistic regression analysis. RESULTS: The study sample included 119 children with ADHD and 85 controls, all aged between 6 and 12 years. Controlling by sex, age, and type of school showed that EF measurements in children with ADHD were significantly more impaired than in controls, especially for measurements of verbal and graphic fluency, Rey-Osterrieth Complex Figure, and cognitive flexibility. Comparison of ADHD subgroups showed that results in children with multiple deficits were similar to those in the global ADHD group. Graphic fluency impairment was the sole impairment in cases with only attention deficit or only hyperactivity-impulsivity manifestations. CONCLUSIONS: EF measures in children with ADHD revealed more problems, particularly those having to do within planning, inhibition, working memory and cognitive control. Age and sex may affect the degree of EF impairment.

Caracterización de niños y adolescentes con trastornos del espectro autista en una institución de Bogotá, Colombia / Profile of children and adolescents with autism spectrum disorders in an institution in Bogota, Colombia

Objetivo: Caracterizar la población de niños y adolescentes con diagnóstico de trastornos del espectro autista (TEA) en un centro de atención integral en Bogotá Colombia. Material y métodos: Estudio descriptivo-correlacional, de la población de pacientes que han asistido al centro desde el año 2003 hasta el 2009. Se evaluaron los aspectos demográficos y clínicos, y se realizó una correlación entre las variables con el diagnóstico y la severidad para la búsqueda de factores de riesgo.Resultados: Se estudió a 138 pacientes. La edad promedio de inicio fue a los 21 meses y el diagnóstico a los 45. Hubo predominancia masculina (6,15:1). El diagnóstico mas frecuente fue síndrome autista (83%), seguido por trastorno generalizado del desarrollo no determinado (17%). No se encontraron antecedentes importantes en la familia, durante el embarazo ni en el periodo neonatal. El desarrollo motor durante el primer año fue normal mientras que el desarrollo de la comunicación verbal se encontró comprometido. Los signos específicos de TEA como el trastorno en referencia a sí mismo, comunicación, habla espontánea, comprensión verbal, atención, imitación, utilización de objetos, autocuidado y juego simbólico se relacionaron significativamente con la severidad del cuadro.Conclusiones: El diagnostico de los TEA continúa siendo tardío en nuestra población y generalmente luego de la remisión de personal ajeno a la salud. Las alteraciones más importantes se encuentran en la comunicación y en la relación con los pares. En el estudio no se evidenciaron factores de riesgo que pudieran estar asociados (AU)

To determine the profile of children and adolescents diagnosed with autism spectrum disorder (ASD) in a comprehensive care centre in Bogota, Colombia. Material and methods: A descriptive-correlational study with a sample of patients who had attended the institution from 2003 to 2009. Demographic and clinical aspects were evaluated and a correlation between the diagnosis and severity being analysed in search for risk factors. Results: A total of138 patients were studied. The average age of onset was 21 months, and diagnosis had been made at 45 months. There was a male predominance (6.15:1). The predominant diagnosis was autistic syndrome (83%), followed by pervasive developmental disorder not otherwise specified (17%). There was no pathological background in the family history, during pregnancy or during the neonatal period. Motor development during the first year was normal but acquisition of language skills was compromised. The specific signs of ASD as regards the disorder in itself, communication skills, spontaneous speech, verbal comprehension, attention, imitation, use of objects, self-care and symbolic play were significantly related to the severity of the disease. Conclusions: Diagnosis of ASD is still delayed in our population and usually after referral from someone other than a health professional. The most important problems were found in communication skills and relationships with peers. The study did not show significant associated risk factors (AU)

[Profile of children and adolescents with autism spectrum disorders in an institution in Bogota, Colombia]. / Caracterización de niños y adolescentes con trastornos del espectro autista en una institución de Bogotá, Colombia.

OBJECTIVE: To determine the profile of children and adolescents diagnosed with autism spectrum disorder (ASD) in a comprehensive care centre in Bogota, Colombia. MATERIAL AND METHODS: A descriptive-correlational study with a sample of patients who had attended the institution from 2003 to 2009. Demographic and clinical aspects were evaluated and a correlation between the diagnosis and severity being analysed in search for risk factors. RESULTS: A total of 138 patients were studied. The average age of onset was 21 months, and diagnosis had been made at 45 months. There was a male predominance (6.15:1). The predominant diagnosis was autistic syndrome (83%), followed by pervasive developmental disorder not otherwise specified (17%). There was no pathological background in the family history, during pregnancy or during the neonatal period. Motor development during the first year was normal but acquisition of language skills was compromised. The specific signs of ASD as regards the disorder in itself, communication skills, spontaneous speech, verbal comprehension, attention, imitation, use of objects, self-care and symbolic play were significantly related to the severity of the disease. CONCLUSIONS: Diagnosis of ASD is still delayed in our population and usually after referral from someone other than a health professional. The most important problems were found in communication skills and relationships with peers. The study did not show significant associated risk factors.