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

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.

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.

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.

Attention-deficit/hyperactivity disorder and lifestyle habits in children and adolescents.

INTRODUCTION: Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child and adolescent population, with a known impact on learning, social relations and quality of life. However, the lifestyle habits of patients with this disorder have been poorly studied. MATERIAL AND METHODS: A total of 160 children and adolescents, aged between 6 and 16 years, participated in the study. Half of them were treatment-naïve patients with a clinical diagnosis of ADHD according to DSM-IV-TR criteria, and without comorbidities. The remaining 80 participants were typically developing (TD) controls without known neurodevelopmental or psychiatric disorders. Parents of all participants completed a questionnaire about their children´s lifestyle habits (e.g, daily hours of sleep, media use and study). RESULTS: The groups had a similar socioeconomic background and did not differ with respect to age and sex distribution. However, patients with ADHD spent more time than TD children studying, and less time watching TV, playing video games, using computers and playing with other people. They also slept fewer hours per night than children and adolescents with TD. ADHD and TD groups spent similar time reading, listening to music and playing sports. CONCLUSIONS: The results of this study suggest that children and adolescents with ADHD have different lifestyle habits compared to age- and sex-matched controls. These findings are not explained by comorbid disorders or medication/ psychological treatment.

Trastorno por déficit de atención/ hiperactividad y hábitos de vida en niños y adolescentes / Attention-deficit/hyperactivity disorder and lifestyle habits in children and adolescents

Introducción. El trastorno por déficit de atención/hiperactividad (TDAH) es uno de los trastornos más prevalentes en la población infanto-juvenil con un impacto ya conocido sobre el aprendizaje, la relación social y la calidad de vida. Sin embargo, los hábitos de vida de los pacientes con este trastorno han sido pobremente estudiados. Material y métodos. Un total de ciento sesenta niños y adolescentes con edades comprendidas entre los 6 y los 16 años (104 varones y 56 mujeres) participaron en este estudio. La mitad de ellos tenían un diagnóstico de TDAH de acuerdo a los criterios del DSM-IV-TR; eran pacientes sin tratamiento y sin comorbilidades. El grupo control estaba formado por 80 niños y adolescentes sin trastornos del neurodesarrollo o psiquiátricos conocidos. Las familias completaron un cuestionario sobre los hábitos de vida de sus hijos e hijas (dedicación extraescolar -horas al día- a diferentes actividades durante la semana lectiva). Resultados. Los grupos tenían un nivel socioeconómico similar y no diferían en edad y sexo. Sin embargo, los pacientes con TDAH dedicaban más tiempo al estudio que los controles y menos a actividades como la TV, el ordenador, los videojuegos y el juego con otras personas. Además, los pacientes con TDAH dormían menos horas diarias que los controles. No se observaron diferencias entre los grupos en el tiempo dedicado a la lectura, el deporte o la música. Conclusiones. Los resultados del presente estudio sugieren que los niños y adolescentes con TDAH tienen hábitos de vida diferentes a los niños y adolescentes con desarrollo típico. Estos hallazgos no se explican por la presencia de trastornos comórbidos o por el tratamiento farmacológico o psicológico

Introduction. Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child and adolescent population, with a known impact on learning, social relations and quality of life. However, the lifestyle habits of patients with this disorder have been poorly studied. Material and methods. A total of 160 children and adolescents, aged between 6 and 16 years, participated in the study. Half of them were treatment-naïve patients with a clinical diagnosis of ADHD according to DSM-IV-TR criteria, and without comorbidities. The remaining 80 participants were typically developing (TD) controls without known neurodevelopmental or psychiatric disorders. Parents of all participants completed a questionnaire about their children's lifestyle habits (e.g, daily hours of sleep, media use and study). Results. The groups had a similar socioeconomic back-ground and did not differ with respect to age and sex distribution. However, patients with ADHD spent more time than TD children studying, and less time watching TV, playing video games, using computers and playing with other people. They also slept fewer hours per night than children and adolescents with TD. ADHD and TD groups spent similar time reading, listening to music and playing sports

Trastorno por déficit de atención/hiperactividad: Hábitos de estudio / Attention deficit/hyperactivity disorder. Study habits

El trastorno por déficit de atención/hiperactividad (TDAH) es uno de los trastornos más prevalentes en la población infanto-juvenil, con un impacto ya conocido sobre el aprendizaje y rendimiento escolar. La falta de atención, la disfunción ejecutiva asociada y los problemas comórbidos -particularmente los relacionados con el aprendizaje y la ansiedad-, condicionan marcadamente este dominio conceptual. Los jóvenes afectos, tienen más problemas para la toma de apuntes, finalización de trabajos, programación escolar y menor motivación al estudio. A pesar de una mayor dedicación al estudio y mayor uso de recursos de apoyo, el fracaso escolar y la no consecución de objetivos curriculares son más frecuentes en estos pacientes. El diagnóstico temprano del TDAH y sus comorbilidades, la intervención psicoeducativa y farmacológica adecuada e individualizada, han demostrado mejorar el pronóstico académico a corto y largo plazo. Para este propósito, es imprescindible la participación activa de profesionales de la salud y la educación.

Attention deficit / hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child-youth population, with a known impact on learning and school performance. Lack of attention, associated executive dysfunction and comorbid problems -particularly those related to learning and anxiety-, strongly determine this conceptual domain. Affected youths have more problems for taking notes, completion of homework, school programming and less motivation to study. Despite greater dedication to homework and greater use of support resources, school failure and non-achievement of curricular objectives are more frequent in these patients. The early diagnosis of ADHD and its comorbidities, the adequate and individualized psychoeducational and pharmacological intervention, have been shown to improve academic prognosis in the short and long term. For this purpose, the active participation of health and education professionals is essential.

[Attention deficit/hyperactivity disorder. Study habits]. / Trastorno por déficit de atención/hiperactividad. Hábitos de estudio.

Attention deficit / hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child-youth population, with a known impact on learning and school performance. Lack of attention, associated executive dysfunction and comorbid problems -particularly those related to learning and anxiety-, strongly determine this conceptual domain. Affected youths have more problems for taking notes, completion of homework, school programming and less motivation to study. Despite greater dedication to homework and greater use of support resources, school failure and nonachievement of curricular objectives are more frequent in these patients. The early diagnosis of ADHD and its comorbidities, the adequate and individualized psychoeducational and pharmacological intervention, have been shown to improve academic prognosis in the short and long term. For this purpose, the active participation of health and education professionals is essential.

El trastorno por déficit de atención/hiperactividad (TDAH) es uno de los trastornos más prevalentes en la población infanto-juvenil, con un impacto ya conocido sobre el aprendizaje y rendimiento escolar. La falta de atención, la disfunción ejecutiva asociada y los problemas comórbidos ­particularmente los relacionados con el aprendizaje y la ansiedad­, condicionan marcadamente este dominio conceptual. Los jóvenes afectos, tienen más problemas para la toma de apuntes, finalización de trabajos, programación escolar y menor motivación al estudio. A pesar de una mayor dedicación al estudio y mayor uso de recursos de apoyo, el fracaso escolar y la no consecución de objetivos curriculares son más frecuentes en estos pacientes. El diagnóstico temprano del TDAH y sus comorbilidades, la intervención psicoeducativa y farmacológica adecuada e individualizada, han demostrado mejorar el pronóstico académico a corto y largo plazo. Para este propósito, es imprescindible la participación activa de profesionales de la salud y la educación.

Cingulate Cortical Thickness and Dopamine Transporter ( DAT1) Genotype in Children and Adolescents With ADHD.

OBJECTIVE: This study aimed to examine the influence of dopamine transporter gene ( DAT1) 3'UTR genotype on cingulate cortical thickness in a large sample of children and adolescents with ADHD. METHOD: Brain MRIs were acquired from 46 ADHD patients with homozygosity for the 10-repeat allele and 52 ADHD patients with a single copy or no copy of the allele. The cingulate cortex of each MRI scan was automatically parceled into sulci and gyri as well as into Brodmann areas (BA). RESULTS: There were no group differences in age, gender, full-scale intelligence quotient, symptom severity, treatment status, comorbidity, or mean overall cortical thickness. Sulcus/gyrus- and BA-based analyses revealed that patients homozygous for the 10-repeat allele showed significantly greater thickness in right cingulate gyrus and right BA 24 compared with 9-repeat carriers. CONCLUSION: These findings suggest that thickness of cingulate cortex is influenced by the presence of the 10-repeat allele in ADHD.

Trastorno por déficit de atención/hiperactividad: perspectiva desde el neurodesarrollo / Attention deficit hyperactivity disorder: from a neurodevelopmental perspective

Introducción. Los trastornos del neurodesarrollo engloban a un grupo heterogéneo de trastornos como la discapacidad intelectual, el trastorno del espectro autista o los trastornos específicos del aprendizaje, entre otros. La reciente inclusión en las clasificaciones internacionales del trastorno por déficit de atención/hiperactividad (TDAH) dentro de los trastornos del neurodesarrollo parece claramente justificada atendiendo a variables neurobiológicas y clínicas. Desarrollo. El carácter dimensional y la distribución de diferentes síntomas en la población caracterizan a la mayoría de los trastornos del neurodesarrollo. Se revisan estos aspectos, particularmente desde la sintomatología y neuropsicología en el TDAH. El carácter sintomático dimensional del TDAH contrasta con los criterios diagnósticos de este trastorno de acuerdo a diferentes clasificaciones o guías clínicas. Contrasta igualmente con los datos recogidos a través de diferentes exploraciones complementarias (escalas, tests...). Conclusiones. El entendimiento del continuo clínico dentro de cada trastorno del neurodesarrollo (incluido el TDAH), entre los diferentes trastornos del neurodesarrollo, y entre los trastornos del neurodesarrollo y la normalidad, es esencial para la investigación, el diagnóstico y el abordaje de todos ellos. El desarrollo de instrumentos que avalen este componente dimensional es igualmente trascendental (AU)

Introduction. Neurodevelopmental disorders cover a heterogeneous group of disorders such as intellectual disability, autism spectrum disorders or specific learning difficulties, among others. The neurobiological and clinical variables seem to clearly justify the recent inclusion of attention deficit hyperactivity disorder (ADHD) as a neurodevelopmental disorder in the international classifications. Development. Neurodevelopmental disorders are characterised by their dimensional nature and the distribution of the different symptoms in the population. These aspects are reviewed, specifically from the perspective of the clinical features and the neuropsychology of ADHD. The dimensional symptomatic nature of ADHD contrasts with the diagnostic criteria of this disorder according to different classifications or clinical guidelines. It also contrasts with the data collected by means of different complementary examinations (scales, tests, etc.). Conclusions. It is essential to understand the clinical continuum within each neurodevelopmental disorder (including ADHD), among the different neurodevelopmental disorders, and among the neurodevelopmental disorders and normality for their research, diagnosis and management. The development of instruments that provide support for this dimensional component is equally significant (AU)

Disfunción en el trastorno por déficit de atención/hiperactividad: evaluación y respuesta al tratamiento / Dysfunction in attention deficit hyperactivity disorder: assessment and response to treatment

El trastorno por déficit de atención/hiperactividad (TDAH) es un trastorno heterogéneo y complejo sintomá- ticamente. Su sintomatología cardinal, la presencia de problemas disejecutivos, la desregulación emocional de muchos de ellos y la propia comorbilidad, entre otros, condicionarán su expresión clínica y la disfunción. La tipificación del TDAH como ‘trastorno’ requiere una evaluación precisa del término ‘disfunción’ o ‘repercusión’. Los avances en la tipificación y cuantificación de la sintomatología característica del TDAH deberían trasladarse a la medición y objetivación de la disfunción. La estimación de la disfunción como una simple interferencia, por clara que sea, podría llevar a una sobreestimación del diagnóstico de este trastorno. Del mismo modo que es ineludible su estimación para el diagnóstico, es igualmente necesaria para la correcta evaluación de la eficacia de las intervenciones terapéuticas, especialmente a medio y largo plazo. Son necesarios estudios adicionales en este sentido para valorar la eficacia de los tratamientos, sean farmacológicos o no, en diferentes dominios (relación social, aprendizaje, autoestima, calidad de vida, siniestralidad…) (AU)

Attention deficit hyperactivity disorder (ADHD) is a heterogeneous, symptomatically complex disorder. Its cardinal symptom, the presence of dysexecutive problems, emotional dysregulation of many of them and its own comorbidity, among others, will condition its clinical expression and the dysfunction. Classifying ADHD as a ‘disorder’ calls for an accurate assessment of the terms ‘dysfunction’ or ‘repercussion’. The progress made in the classification and quantification of the symptoms characterising ADHD should be applied to measuring and objectifying dysfunction. Considering dysfunction as a simple interference, however clear it may be, could lead to an overestimation of the diagnosis of this disorder. Just as its estimation is essential for a diagnosis, it is also necessary for the correct evaluation of the efficacy of the therapeutic interventions, especially in the medium and long term. Further studies are needed in this sense to appraise the efficacy of the treatments, whether pharmacological or not, in different domains (social relationship, learning, self-esteem, quality of life, accidents, etc.) (AU)

Cortical thickness differences in the prefrontal cortex in children and adolescents with ADHD in relation to dopamine transporter (DAT1) genotype.

Several lines of evidence suggest that the dopamine transporter gene (DAT1) plays a crucial role in attention deficit hyperactivity disorder (ADHD). Concretely, recent data indicate that the 10-repeat (10R) DAT1 allele may mediate neuropsychological functioning, response to methylphenidate, and even brain function and structure in children with ADHD. This study aimed to investigate the influence of 10R DAT1 on thickness of the prefrontal cortex in children and adolescents with ADHD. To this end, brain magnetic resonance images were acquired from 33 patients with homozygosity for the 10R allele and 30 patients with a single copy or no copy of the allele. The prefrontal cortex of each MRI scan was automatically parceled into regions of interest (ROIs) based on Brodmann areas (BA). The two groups were matched for age, gender, IQ, ADHD subtype, symptom severity, comorbidity and medication status. However, patients with two copies of the 10R allele exhibited significantly decreased cortical thickness in right BA 46 relative to patients with one or fewer copies of the allele. No other prefrontal ROI differed significantly between the two groups. Present findings suggest that cortical thickness of right lateral prefrontal cortex (BA 46) is influenced by the presence of the DAT1 10 repeat allele in children and adolescents with ADHD.

[Attention deficit hyperactivity disorder and adoption]. / Trastorno por déficit de atención/hiperactividad y adopción.

INTRODUCTION: The term adoption or adoptive filiation is understood as referring to the legal act by which family ties are created between two persons such that a relationship of fatherhood or motherhood is established between them. AIMS. The purpose of this study is to outline the problems derived from prenatal exposure to alcohol and other risk factors, from hypostimulation during the 'critical period' in institutionalised patients (especially those adopted from eastern European countries) and their relation with attention deficit hyperactivity disorder (ADHD). This work also seeks to take a deeper look into the diagnosis, prevention and treatment of these problems. DEVELOPMENT: These children have problems in terms of psychosocial relationships, behavioural problems, delayed language or reading development and, above all, ADHD. In practice it is extremely difficult to separate the two factors during the assessment of children adopted from eastern European countries in neuropaediatric consultations. Exactly how all these factors are interrelated is not well understood. CONCLUSIONS: There is a close relationship between prenatal exposure to alcohol and the consequences of adoption. There is a need for placebo-controlled randomised studies, with larger population samples, that test the benefits and profile of side effects, both with psychostimulants and with atomoxetine in this group of patients.

TITLE: Trastorno por deficit de atencion/hiperactividad y adopcion.Introduccion. Se entiende por adopcion o filiacion adoptiva el acto juridico mediante el cual se crea un vinculo de parentesco entre dos personas, de tal forma que se establece entre ellas una relacion de paternidad o maternidad. Objetivos. Tratar de exponer los problemas derivados de la exposicion prenatal al alcohol y otros factores de riesgo, de la hipoestimulacion durante el 'periodo critico' en pacientes institucionalizados (especialmente aquellos adoptados de paises del este de Europa) y su relacion con el trastorno de deficit de atencion/hiperactividad (TDAH). Realizar una aproximacion al diagnostico, prevencion y tratamiento de estos problemas. Desarrollo. Estos niños presentan problemas de relacion psicosocial, problemas conductuales, retraso del desarrollo del lenguaje o de la lectura y, sobre todo, TDAH. Existe una enorme dificultad practica a la hora de separar ambos factores durante la evaluacion de niños adoptados de paises del este de Europa en las consultas de neuropediatria. La interrelacion de todos estos factores no es bien conocida. Conclusiones. Existe una intima relacion entre la exposicion prenatal al alcohol y las consecuencias de la adopcion. Se necesitan estudios aleatorizados controlados con placebo, con mayores muestras poblacionales, que comprueben el beneficio y perfil de efectos secundarios, tanto con psicoestimulantes como con la atomoxetina en este grupo de pacientes.

Trastorno por déficit de atención/hiperactividad y adopción / Attention deficit hyperactivity disorder and adoption

Introducción. Se entiende por adopción o filiación adoptiva el acto jurídico mediante el cual se crea un vínculo de parentesco entre dos personas, de tal forma que se establece entre ellas una relación de paternidad o maternidad. Objetivos. Tratar de exponer los problemas derivados de la exposición prenatal al alcohol y otros factores de riesgo, de la hipoestimulación durante el ‘período crítico’ en pacientes institucionalizados (especialmente aquellos adoptados de países del este de Europa) y su relación con el trastorno de déficit de atención/hiperactividad (TDAH). Realizar una aproximación al diagnóstico, prevención y tratamiento de estos problemas. Desarrollo. Estos niños presentan problemas de relación psicosocial, problemas conductuales, retraso del desarrollo del lenguaje o de la lectura y, sobre todo, TDAH. Existe una enorme dificultad práctica a la hora de separar ambos factores durante la evaluación de niños adoptados de países del este de Europa en las consultas de neuropediatría. La interrelación de todos estos factores no es bien conocida. Conclusiones. Existe una íntima relación entre la exposición prenatal al alcohol y las consecuencias de la adopción. Se necesitan estudios aleatorizados controlados con placebo, con mayores muestras poblacionales, que comprueben el beneficio y perfil de efectos secundarios, tanto con psicoestimulantes como con la atomoxetina en este grupo de pacientes (AU)

Introduction. The term adoption or adoptive filiation is understood as referring to the legal act by which family ties are created between two persons such that a relationship of fatherhood or motherhood is established between them. Aims. The purpose of this study is to outline the problems derived from prenatal exposure to alcohol and other risk factors, from hypostimulation during the ‘critical period’ in institutionalised patients (especially those adopted from eastern European countries) and their relation with attention deficit hyperactivity disorder (ADHD). This work also seeks to take a deeper look into the diagnosis, prevention and treatment of these problems. Development. These children have problems in terms of psychosocial relationships, behavioural problems, delayed language or reading development and, above all, ADHD. In practice it is extremely difficult to separate the two factors during the assessment of children adopted from eastern European countries in neuropaediatric consultations. Exactly how all these factors are interrelated is not well understood. Conclusions. There is a close relationship between prenatal exposure to alcohol and the consequences of adoption. There is a need for placebo-controlled randomised studies, with larger population samples, that test the benefits and profile of side effects, both with psychostimulants and with atomoxetine in this group of patients (AU)

Autismo y trastorno por déficit de atención/hiperactividad: intervención farmacológica / Autism and attention deficit hyperactivity disorder: pharmacological intervention

Los síntomas cardinales del trastorno por déficit de atención/hiperactividad (TDAH), la inatención, la hiperactividad y la impulsividad, no son específicos y pueden encontrarse en la población general y en otros trastornos. Estos síntomas se encuentran presentes en más del 50% de los pacientes con trastornos del espectro autista (TEA). Parece clara, por tanto, la coexistencia de ambos problemas en estos pacientes. Los tratamientos farmacológicos habituales para el TDAH, el metilfenidato y la atomoxetina, parecen ser útiles en la reducción de los síntomas señalados en pacientes con TDAH y TEA. La eficacia en los pacientes con TEA parece ser inferior, y la tolerancia, levemente peor. Esto puede estar condicionado por numerosas variables: complejidad del TEA, asociación con el retraso mental, polifarmacoterapia... Dado el perfil de tolerancia a largo plazo del metilfenidato y la atomoxetina, estos tratamientos se muestran como una buena alternativa para la mejora de los problemas atencionales y autocontrol de estos pacientes; sin embargo, son necesarios más estudios controlados para afirmar esta propuesta (AU)

The cardinal symptoms of attention deficit hyperactivity disorder (ADHD) –inattention, hyperactivity and impulsiveness– are not specific and may be found in the general population and in other disorders. These symptoms are present in over 50% of patients with autism spectrum disorders (ASD). It thus seems quite clear that both problems can coexist in these patients. The usual pharmacological treatments for ADHD, methylphenidate and atomoxetine, appear to be useful in reducing the above-mentioned symptoms in patients with ADHD and ASD. Effectiveness seems to be lower in patients with ASD and tolerance is slightly poorer. This may be conditioned by a number of variables, including: the complexity of ASD, association with mental retardation, polypharmacotherapy, and so on. Given the long-term tolerance profile of methylphenidate and atomoxetine, these treatments appear to be a good alternative with which to improve the problems of attention and self-control these patients have. Nevertheless, further controlled studies are needed to confirm this proposition (AU)

[Autism and attention deficit hyperactivity disorder: pharmacological intervention]. / Autismo y trastorno por déficit de atención/hiperactividad: intervención farmacológica.

The cardinal symptoms of attention deficit hyperactivity disorder (ADHD)--inattention, hyperactivity and impulsiveness--are not specific and may be found in the general population and in other disorders. These symptoms are present in over 50% of patients with autism spectrum disorders (ASD). It thus seems quite clear that both problems can coexist in these patients. The usual pharmacological treatments for ADHD, methylphenidate and atomoxetine, appear to be useful in reducing the above-mentioned symptoms in patients with ADHD and ASD. Effectiveness seems to be lower in patients with ASD and tolerance is slightly poorer. This may be conditioned by a number of variables, including: the complexity of ASD, association with mental retardation, polypharmacotherapy, and so on. Given the long-term tolerance profile of methylphenidate and atomoxetine, these treatments appear to be a good alternative with which to improve the problems of attention and self-control these patients have. Nevertheless, further controlled studies are needed to confirm this proposition.

TITLE: Autismo y trastorno por deficit de atencion/hiperactividad: intervencion farmacologica.Los sintomas cardinales del trastorno por deficit de atencion/hiperactividad (TDAH), la inatencion, la hiperactividad y la impulsividad, no son especificos y pueden encontrarse en la poblacion general y en otros trastornos. Estos sintomas se encuentran presentes en mas del 50% de los pacientes con trastornos del espectro autista (TEA). Parece clara, por tanto, la coexistencia de ambos problemas en estos pacientes. Los tratamientos farmacologicos habituales para el TDAH, el metilfenidato y la atomoxetina, parecen ser utiles en la reduccion de los sintomas senalados en pacientes con TDAH y TEA. La eficacia en los pacientes con TEA parece ser inferior, y la tolerancia, levemente peor. Esto puede estar condicionado por numerosas variables: complejidad del TEA, asociacion con el retraso mental, polifarmacoterapia... Dado el perfil de tolerancia a largo plazo del metilfenidato y la atomoxetina, estos tratamientos se muestran como una buena alternativa para la mejora de los problemas atencionales y autocontrol de estos pacientes; sin embargo, son necesarios mas estudios controlados para afirmar esta propuesta.

Efficacy of atomoxetine for the treatment of ADHD symptoms in patients with pervasive developmental disorders: a prospective, open-label study.

OBJECTIVE: Atomoxetine's tolerance and efficacy were studied in 24 patients with pervasive developmental disorder and symptoms of ADHD. METHOD: Prospective, open-label, 16-week study was performed, using the variables of the Clinical Global Impression Scale and the Conners' Scale, among others. RESULTS: A significant difference was found between pre- and posttreatment scores as well as a significant reduction was found on the scales used. Only five patients presented adverse events. CONCLUSION: Atomoxetine therefore appears to be a useful drug, pointing to the need for larger, randomized, controlled, double-blind studies to confirm its efficacy versus placebo and in comparison with other treatment options.

Social and leadership abilities in attention deficit/hyperactivity disorder: relation with cognitive-attentional capacities.

OBJECTIVE: We have analyzed social and leadership abilities in children with ADHD and their relationship with execution of tasks involving sustained attention and inhibitory control. PATIENTS AND METHODS: A retrospective analysis of 170 patients with ADHD was performed. We evaluated leadership and social abilities, measured through the Behavior Assessment System for Children (BASC) and their relations with the results of different neuropsychological tests, including Wechsler scale for children (WISC-IV) and Conners' continuous performance (CPT II). RESULTS: In the differential analysis between the IQ, results of the tests and their relation to BASC scores, a statistically significant relation was observed between attentional capacity expected according to the patient's intelligence and social skills scores (according to BASC filled out by mothers and teachers) and leadership (according to all informants) sections. CONCLUSIONS: Attentional difficulties are closely related to social competence in patients with ADHD, either by a direct cause-effect relationship or a shared dysexecutive substrate of this disorder.

Habilidades sociales y de liderazgo en el trastorno por déficit de atención/ hiperactividad: relación con las capacidades cognitivo-atencionales / Social and leadership abilities in attention defi cit/hyperactivity disorder: relation with cognitiveattentional capacities

Objetivo. Analizamos las habilidades sociales y de liderazgo en niños con TDAH y su relación con la ejecución de tareas que implican atención y autocontrol. Material y métodos. Análisis retrospectivo clínico de 170 pacientes con TDAH. Se evaluaron las habilidades sociales y de liderazgo medido a través del sistema de evaluación de la conducta de niños y adolescentes (BASC) y su relación con diferentes test neuropsicológicos, incluyendo la escala de Wechsler para niños-IV (WISC-IV) y el test de ejecución continuada de Conners (CPT II).Resultados. En el análisis diferencial entre el cociente intelectual, los resultados de los test y su relación con las puntuaciones del BASC, se observó una relación estadísticamente significativa entre la capacidad atencional esperada para la inteligencia del paciente, y la puntuación en los apartados habilidades sociales (según el BASC rellenado por madres y profesores) y de liderazgo (según todos los informadores).Conclusiones. Las dificultades atencionales están íntimamente relacionadas con la competencia social en pacientes con TDAH, bien por una relación causa-efecto directa o por un sustrato disejecutivo común en este trastorno (AU)

Objective. We have analyzed social and leadership abilities in children with ADHD and their relationship with execution of tasks involving sustained attention and inhibitory control. Patients and methods. A retrospective analysis of 170patients with ADHD was performed. We evaluated leadership and social abilities, measured through the Behavior Assessment System for Children (BASC) and their relations with the results of different neuropsychological tests, including Wechsler scale for children (WISC-IV) and Conners' continuous performance (CPT II). Results. In the differential analysis between the IQ, results of the tests and their relation to BASC scores, a statistically significant relation was observed between attentional capacity expected according to the patient’s intelligence and social skills scores (according to BASC filled out by mothers and teachers) and leadership (according to all informants) sections. Conclusiones. Attention al difficulties are closely related to social competence in patients with ADHD, either by a direct cause-effect relationship or a shared dysexecutive substrate of this disorder (AU)

[Genomic endophenotypes of attention deficit hyperactivity disorder]. / Endofenotipos genomicos del trastorno por deficit de atencion/hiperactividad.

Attention deficit hyperactivity disorder (ADHD) is a remarkably heterogeneous neurobiological disorder. This characteristic is aetiologically mediated by genetic and environmental factors. Numerous studies have shown that different genes play a moderate but complex role in the aetiology of ADHD. Significant associations have been identified with several candidate genes for this disorder, including DAT1, DRD4, DRD5, 5HTT, HTR1B or SNAP25. The neurocognitive models of ADHD have been largely based on the findings from neuroimaging studies conducted in patients with ADHD, when establishing hypotheses capable of explaining the clinical features that are observed. From a neurobiological point of view, the genetic architecture of these patients or the interaction of the above-mentioned genes should at least partially account for the neuroanatomical and neuropsychological findings observed, which explains the axiomatic antithesis in the title. Nevertheless, the results of studies into the relationship between the genotyping and the neuroimaging or psychological findings are scarce and contradictory. The methodological differences in the volumetric analyses, the sizes of the populations studied, the neuropsychological batteries that are used, the presence of previous pharmacological treatment or comorbidity could account for these results.

Endofenotipos genómicos del trastorno por déficit de atención/hiperactividad / Genomic endophenotypes of attention deficit hyperactivity disorder

El trastorno por déficit de atención/hiperactividad (TDAH) es un trastorno neurobiológico, marcadamente heterogéneo. Esta característica está mediada etiológicamente por factores genéticos y ambientales. Numerosos estudios han demostrado que diferentes genes tienen un papel moderado y complejo en la etiología del TDAH. Se han constatado asociaciones significativas con varios genes candidatos para este trastorno, como DAT1, DRD4, DRD5, 5HTT, HTR1B o SNAP25. Los modelos neurocognitivos del TDAH se han basado eminentemente en los hallazgos encontrados en la neuroimagen de los pacientes con TDAH, a la hora de establecer hipótesis explicativas de la clínica observada. Desde una perspectiva neurobiológica, la arquitectura genética de estos pacientes o la interacción de los genes expuestos deberían explicar, al menos parcialmente, los hallazgos neuroanatómicos y neuropsicológicos observados, de aquí la contraposición axiomática del título. Sin embargo, los estudios relacionales entre el genotipado y los hallazgos de neuroimagen o psicológicos son escasos y discordantes en sus resultados. Las diferencias metodológicas en los análisis volumétricos, los tamaños de las poblaciones estudiadas, las baterías neuropsicológicas empleadas, la presencia de tratamiento farmacológico previo o la comorbilidad podrían justificar estos resultados (AU)

Attention deficit hyperactivity disorder (ADHD) is a remarkably heterogeneous neurobiological disorder. This characteristic is aetiologically mediated by genetic and environmental factors. Numerous studies have shown that different genes play a moderate but complex role in the aetiology of ADHD. Significant associations have been identified with several candidate genes for this disorder, including DAT1, DRD4, DRD5, 5HTT, HTR1B or SNAP25. The neurocognitive models of ADHD have been largely based on the findings from neuroimaging studies conducted in patients with ADHD, when establishing hypotheses capable of explaining the clinical features that are observed. From a neurobiological point of view, the genetic architecture of these patients or the interaction of the above-mentioned genes should at least partially account for the neuroanatomical and neuropsychological findings observed, which explains the axiomatic antithesis in the title. Nevertheless, the results of studies into the relationship between the genotyping and the neuroimaging or psychological findings are scarce and contradictory. The methodological differences in the volumetric analyses, the sizes of the populations studied, the neuropsychological batteries that are used, the presence of previous pharmacological treatment or comorbidity could account for these results (AU)

[Attention deficit hyperactivity disorder and its relation to social skills and leadership evaluated with an evaluation system of the behavior of children and adolescents (BASC)]. / Trastorno por déficit de atención/hiperactividad y su relación con las habilidades sociales y de liderazgo evaluadas a través de un sistema de evaluación de la conducta de niños y adolescentes (BASC).

INTRODUCTION: Numerous studies have documented that children with attention deficit hyperactivity disorder (ADHD) show a low social competence. OBJECTIVE: To compare the symptomatic severity of ADHD, as well as associations to different subtypes, sex and comorbidities, with social functioning ("ability" and "leadership") estimated through a Behavior Assessment System for Children (BASC) for parents and teachers. PATIENTS AND METHODS: We have retrospectively analyzed 170 patients with ADHD, diagnosed between 2007 and 2010. Social "ability," "leadership," "hyperactivity" and "attention deficit" sections of BASC and cardinal symptoms of ADHD measured through a Spanish scale for de evaluation of DHD (E-DHD) were registered. Results of these variables are analyzed according to the normative data by age and sex, and processed in Z values. RESULTS: The ratings for social skills were significantly lower in patients with conduct disorder or oppositional defiant disorder as informed by parents (p<0.05). Symptomatic intensity of ADHD showed significant (p<0,001) and inverse relation with social "ability" as parents. "Attention-deficit" scores were related with social "ability" and "leadership" as parents and teachers. CONCLUSIONS: Intensity of attention deficit was the only variable that showed a significant relation with the social skills and leadership according to the BASC scores, independently of the informer.