Next generation sequencing for rapid diagnosis of a rare early onset spastic paraplegia: A novel pathological variant in FA2H gene / Secuenciación de nueva generación para el diagnóstico rápido de una paraparesia espástica rara de aparición infantil: nueva variante patológica en el gen FA2H

Introduction: Hereditary spastic paraplegia is a group of inherited neurological disorders with predominant manifestations of lower extremity weakness and severe spasticity. This is a genetically heterogeneous disorder very difficult to distinguish clinically with many genes described. Few patients with this condition have been previously reported. Patient and methods: We present a case of a 5 years old girl, born from consanguineous parents, with severe ataxia and progressive spasticity of low limbs. Due to the severity of the symptoms and the need for early diagnosis, next generation sequencing study of 37 genes implicated in spastic paraplegia was performed. Results: A novel pathological variant in FA2H gene was discovered. Father, mother and brother were heterozygous carriers. Conclusions: Spastic paraplegia due to mutations in FA2H is an under diagnosed condition, and it should always be considered in childhood onset of progressive pyramidal dysfunction. Next Generation Sequencing allows a simultaneous analysis of many genes, enables a fast diagnosis in complex disorders

Introducción: La paraparesia espástica es un grupo de enfermedades neurológicas hereditarias que cursan con debilidad de las extremidades inferiores y espasticidad severa. Es una enfermedad muy heterogénea, con muchos genes descritos y muy difícil de distinguir clínicamente. Hay pocos pacientes descritos con esta enfermedad. Pacientes y métodos: Se presenta un caso de una niña de 5 años, de padres consanguíneos, con una ataxia severa y espasticidad progresiva de los miembros inferiores. Dada la gravedad de la clínica y la necesidad de un diagnóstico temprano, se decide realizar un panel de secuenciación masiva de 37 genes implicados en paraparesia espástica. Resultados: Los resultados muestran una variante patológica no descrita previamente en el gen FA2H. El padre, la madre y el hermano resultan portadores heterocigotos. Conclusiones: La paraparesia espástica debida a mutaciones en el gen FA2H está infradiagnosticada y debería ser considerada siempre que aparezcan síntomas en la infancia de disfunción piramidal grave y progresiva. Los paneles de secuenciación masiva con el análisis simultáneo de varios genes están permitiendo un diagnóstico más rápido en enfermedades complejas

Actualización en el tratamiento farmacológico del trastorno por déficit de atención/hiperactividad: lisdexanfetamina y guanfacina de liberación retardada / An update on the pharmacological treatment of attention deficit hyperactivity disorder: lisdexamphetamine and extended-release guanfacine

Introducción. El trastorno por déficit de atención/hiperactividad (TDAH) es uno de los trastornos del neurodesarrollo más frecuentes en la población infantil. Su tratamiento es complejo y debe incluir medidas psicoeducativas, ambientales y farmacológicas. En los últimos años, las principales novedades respecto a su tratamiento farmacológico son la aparición de la lisdexanfetamina y la guanfacina de liberación retardada. Objetivo. El aumento del número de fármacos disponibles para el tratamiento del TDAH permite tratar y cubrir situaciones clínicas muy diversas. El propósito de la presente revisión es realizar un análisis de la bibliografía sobre ambos fármacos. Desarrollo: Se establecen los puntos fuertes de ambos tratamientos, atendiendo especialmente a su mecanismo de acción, a su tolerabilidad y a su eficacia. Conclusiones. La guanfacina de liberación retardada permite tratar situaciones escasamente cubiertas con los estimulantes, tales como los niños con irritabilidad y tics, con un perfil significativo de moderada eficacia y una buena tolerabilidad y seguridad. La aparición de la lisdexanfetamina ha supuesto un cambio muy importante porque, según la bibliografía, se trataría de un fármaco completo y efectivo, desde el punto de vista clínico, para mejorar los síntomas del TDAH. Además, posee un buen perfil de seguridad (AU)

Introduction. Attention deficit hyperactivity disorder (ADHD) is one of the most frequent neurodevelopmental disorders in the child population. Its treatment is complex and must include psychoeducational, environmental and pharmacological measures. In recent years, the main novelties as regards its pharmacological treatment have been the appearance of lisdexamphetamine and extended-release guanfacine. Aims. The increase in the number of drugs available for the treatment of ADHD makes it possible to treat and cover a very wide range of different clinical situations. The purpose of this review is to perform an analysis of the literature on the two drugs. Development. The study determines the strong points of both treatments, with special attention given to their mechanism of action, their tolerability and their efficacy. Conclusions. Extended-release guanfacine enables the professional to treat situations that are poorly covered by stimulants, such as children with irritability and tics, with a significant profile characterised by moderate efficacy and good tolerability and safety. The appearance of lisdexamphetamine has brought about a very important change because, according to the literature, it is a drug that, from the clinical point of view, is both complete and effective in improving the symptoms of ADHD. Moreover, it has a good safety profile (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.

Cortical thickness at the time of the initial attack in two patients with paediatric relapsing-remitting multiple sclerosis.

BACKGROUND: Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system with a low incidence in the paediatric population; cortical atrophy is often striking, even in the early stages of the disease. Evidence of cortical thinning in childhood MS is scant. AIMS: This study aimed to assess cortical thickness in paediatric patients during the initial attack of remitting-relapsing MS. METHODS: We report two cases of remitting-relapsing MS, with initial attacks at 12 and 16 years of age. We analysed brain cortical thickness (CTh) in these patients and compared these data to the CTh of a control group comprised of six 12-year-old females and six 16-year-old males. RESULTS: Both cases exhibited a total brain CTh significantly below that of the control group. This difference was also observed when analysing the CTh of all lobes except the left parietal lobe in one of the cases. CONCLUSIONS: Cortical atrophy is already present at the time of onset of MS. Studies with larger patient populations that have a more homogenous clinical presentation could identify the time of onset of cortical atrophy and use this parameter as a prognostic and/or treatment marker of MS.

In utero diagnosis of PHACE syndrome by fetal magnetic resonance imaging (MRI).

The acronym PHACE describes the association of facial hemangioma with anomalies of the posterior fossa, cerebral arteries, and cardiovascular and ocular alterations. This study presents a case of diagnostic suspicion based on fetal MRI. We report the case of a pregnant woman whose 26-week MRI revealed a female fetus with hypoplasia of the right cerebellar hemisphere and right microphthalmia, leading to the suspicion of PHACE syndrome. The diagnosis was confirmed at birth, together with other criteria: facial hemangioma, absent posterior inferior cerebellar artery, and dysplasia of the right internal carotid artery. To our knowledge, this is the first live case described prenatally with both ocular and cerebellar findings on fetal MRI that suggest PHACE syndrome. The prenatal presence of 2 PHACE criteria led to the suspicion of this syndrome, and prenatal diagnostic criteria might be developed to improve information regarding the prognosis of cerebellar malformations.

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.

Treatment with paliperidone in children with behavior disorders previously treated with risperidone: an open-label trial.

OBJECTIVES: Paliperidone is the main active metabolite of risperidone, with certain pharmacokinetic and tolerability characteristics that suggest it may be used in special groups, such as children. Our purpose is to document the clinical experience with the use of paliperidone in children with severe behavior problems that were partially refractory to treatment with risperidone and psychological treatment. MATERIALS AND METHODS: This is a prospective 16-week open-label study of paliperidone in 18 patients (mean age, 13.4 years) with severe and excessive irritability in the context of generalized developmental disorders or attention-deficit/hyperactivity disorder. Patients who had exhibited an inadequate response to treatment with risperidone (1.5-2 mg/d) over a treatment period of 6 months were treated with paliperidone at 3 mg/d. Symptom severity at the beginning of the study and in response to paliperidone were rated with the Clinical Global Impression (CGI) scale and Overt Aggression Scale. RESULTS: A significant difference was documented between the mean score before treatment and the score after the drug intervention with paliperidone. There was a noticeable clinical improvement in 50% of the cases, as reflected in the CGI. Severity of aggressive behavior, as assessed by the Overt Aggression Scale, decreased significantly after paliperidone treatment: mean (SD), 2.7 (0.92) before treatment versus 1.5 (0.60) after treatment. This compound was safe and well tolerated. CONCLUSION: Half of the patients clearly responded to paliperidone extended release. Tolerance to this treatment was distinctly better than to risperidone. These preliminary results lay the foundation for further research into the use of paliperidone to treat pediatric disruptive behavior disorders within the context of randomized, double-blind, controlled clinical trials.

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)

[Relationship between migraine and atopy in childhood: a retrospective case-control study]. / Relación entre la migraña y la atopia en la infancia: estudio retrospectivo de casos y controles.

INTRODUCTION: Migraine is a common complaint in childhood. Atopy is the predisposition to the complaint of one or more of the following conditions: atopic dermatitis, rhinoconjunctivitis and asthma. AIM: To examine whether there is a relationship between atopy, taking into account each of its different variants, and migraine with or without aura. The practical application of knowing about this association includes improvement in the diagnosis of migraine, which is often difficult in children. SUBJECTS AND METHODS: We performed a retrospective case-control study of children (5-15 years old) with and without migraine; recruitment time: six months. Data evaluated included age, sex, questions from a questionnaire about atopy to measure prevalence, and medical diagnosis that appears in the patient's medical record and overall (intersection of the previous ones), among other things. A statistical analysis was performed. The odds ratio (OR) and the 95% confidence interval were both estimated. Confusion factors were studied. RESULTS: Altogether 216 children were analysed. The prevalence of atopic dermatitis (OR = 7.1; p < 0.01), rhinoconjunctivitis (OR = 7.3; p < 0.01) and allergic asthma (OR = 4.69; p < 0.01), as well as their previous and overall medical diagnoses, is significantly higher and more severe in children with migraine. Dermatitis and rhinitis are more commonly diagnosed in the cases with aura. CONCLUSIONS: The prevalence and the percentage of prior and overall diagnoses of the three atopic diseases are significantly higher in children with migraine.

[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.

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) / 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)

Introducción. Numerosos estudios han documentado que los niños con trastorno por déficit de atención/hiperactividad (TDAH) experimentan una baja competencia social. Objetivo. Comparar la intensidad sintomática del TDAH, así como la asociación de los diferentes subtipos, sexo y comorbilidades con el funcionamiento social (“habilidad social” y “liderazgo”) estimado a través de un sistema de evaluación de la conducta de niños y adolescentes para padres y profesores (BASC).Pacientes y métodos. Se analizan retrospectivamente 170 pacientes evaluados con diagnóstico de TDAH entre 2007 y 2010. Se analizan y comparan, entre otros, los datos de habilidades sociales, liderazgo, hiperactividad y déficit de atención del BASC y los síntomas cardinales del TDAH de la escala para la evaluación del déficit de atención con hiperactividad (EDAH). Los resultados de estas variables son analizados acorde a los datos normativos por edad y sexo, y transformados en valores Z. Resultados. Las puntuaciones correspondientes a habilidades sociales fueron significativamente menores en los pacientes con trastorno disocial o negativista según progenitores (p<0,05). En el análisis de la intensidad sintomática del TDAH se observó una relación inversamente significativa (p<0,001) entre la intensidad de la hiperactividad y las habilidades sociales según los padres. La puntuación de déficit de atención se correlacionó de igual forma con las habilidades sociales y liderazgo según padres y profesores. Conclusiones. La intensidad del déficit de atención fue la única variable que, con independencia del informador, se relacionó de forma significativa con las habilidades sociales y el liderazgo según el BASC (AU)

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 (AU)

Relación entre la migraña y la atopia en la infancia: estudio retrospectivo de casos y controles / Relationship between migraine and atopy in childhood: a retrospective case-control study

Introducción. La migraña es un padecimiento común en la infancia. La atopia es la predisposición al padecimiento de una o varias de las siguientes patologías: dermatitis atópica, rinoconjuntivitis y asma. Objetivo. Estudiar si existe una relación entre la atopia, valorando cada una de sus variantes y la migraña con o sin aura. El uso práctico de conocer esta asociación incluye la mejora en el diagnóstico de la migraña, con frecuencia difícil en niños. Sujetos y métodos. Estudio retrospectivo de casos y controles de niños (5-15 años) con migraña o sin ella; tiempo de reclutamiento: seis meses. Se evalúan edad, sexo, preguntas de un cuestionario sobre atopia para medir prevalencia, y diagnóstico médico constatable en su historial y global (intersección de los previos), entre otros datos. Se realiza un análisis estadístico. Se estima la odds ratio (OR) junto con el intervalo de confianza del 95%. Se estudian factores de confusión. Resultados. Se analizan 216 niños. La prevalencia de dermatitis atópica (OR = 7,1; p < 0,01), rinoconjuntivitis (OR = 7,3;p < 0,01) y asma alérgica (OR = 4,69; p < 0,01), así como su diagnóstico médico previo y global, es significativamente más alta y grave en los niños con migraña. Se observa más diagnóstico de dermatitis y rinitis en los casos con aura. Conclusiones. La prevalencia y el porcentaje de diagnóstico previo y global de las tres enfermedades atópicas son significativamente mayores en los niños con migraña (AU)

Introduction. Migraine is a common complaint in childhood. Atopy is the predisposition to the complaint of one or more of the following conditions: atopic dermatitis, rhinoconjunctivitis and asthma. Aim. To examine whether there is a relationship between atopy, taking into account each of its different variants, and migraine with or without aura. The practical application of knowing about this association includes improvement in the diagnosis of migraine, which is often difficult in children. Subjects and methods. We performed a retrospective case-control study of children (5-15 years old) with and without migraine; recruitment time: six months. Data evaluated included age, sex, questions from a questionnaire about atopy to measure prevalence, and medical diagnosis that appears in the patient’s medical record and overall (intersection of the previous ones), among other things. A statistical analysis was performed. The odds ratio (OR) and the 95% confidence interval were both estimated. Confusion factors were studied. Results. Altogether 216 children were analysed. The prevalence of atopic dermatitis (OR = 7.1; p < 0.01), rhinoconjunctivitis (OR = 7.3; p < 0.01) and allergic asthma (OR = 4.69; p < 0.01), as well as their previous and overall medical diagnoses, is significantly higher and more severe in children with migraine. Dermatitis and rhinitis are more commonly diagnosed in the cases with aura. Conclusions. The prevalence and the percentage of prior and overall diagnoses of the three atopic diseases are significantly higher in children with migraine (AU)

Cortical thickness in fetal alcohol syndrome and attention deficit disorder.

Fetal alcohol syndrome represents the classic and most severe manifestation of epigenetic changes induced by exposure to alcohol during pregnancy. Often these patients develop attention deficit hyperactivity disorder. We analyzed cortical thickness in 20 children and adolescents with fetal alcohol syndrome and attention deficit hyperactivity disorder (group 1), in 20 patients without fetal alcohol syndrome (group 2), and in 20 control cases. The first group revealed total cortical thickness significantly superior to those of the other two groups. In per-lobe analyses of cortical thickness, group 1 demonstrated greater cortical thickness in the frontal, occipital, and right temporal and left frontal lobes compared with the second group, and in both temporal lobes and the right frontal lobe compared with the control group. This study demonstrated greater cortical thickness in patients with attention deficit hyperactivity disorder and heavy prenatal exposure to alcohol, probably as an expression of immature or abnormal brain development.

Atomoxetine for attention deficit hyperactivity disorder in mental retardation.

The study objective was to assess the efficacy and tolerability of atomoxetine in the treatment of attention deficit hyperactivity disorder symptoms in patients with mental retardation. In a 16-week, open-label, prospective study, 48 children with mental retardation and attention deficit hyperactivity disorder were recruited; the patients received atomoxetine, with a single final dose of 1.2 mg/kg per day reached at 3 weeks. The measure of efficacy was scores on Clinical Global Impression Severity scale (CGI-S), Conners, and Attention Deficit Hyperactivity Disorder Rating Scale ADHDRS-IV. A statistically significant difference was documented between the mean CGI-S scores before and after treatment: baseline CGI-S = 5.31 (S.D. = 0.85); post-treatment CGI-S = 4.13 (S.D. = 0.97), with a difference of 1.18 points (S.D. = 0.84) and a 95% confidence interval for the difference of 0.92-1.43 (P < 0.001). A statistically significant reduction (P < 0.01) was observed with respect to all the variables of the ADHDRS-IV and Conners scales. Slightly less than one third of the patients (31%) presented adverse events, the majority of which were mild, with irritability being the most frequent event. Atomoxetine appears to be to useful in improving attention deficit hyperactivity disorder symptoms in mentally retarded patients. Larger, randomized, controlled, double-blind studies are required to confirm the efficacy observed in this first study.

Fetal alcohol syndrome, Tourette syndrome, and hyperactivity in nine adopted children.

Much attention has been paid in recent years to the role of prenatal exposure to alcohol. Fetal alcohol syndrome is one of the most severe afflictions resulting from such exposure. The present report documents the cases of adopted children diagnosed with fetal alcohol syndrome who developed both Tourette syndrome and attention deficit-hyperactivity disorder. Out of a population of 138 adopted children with behavior issues whose clinical histories were reviewed retrospectively, 9 children (6.5%) presented this constellation. Epidemiologic data, clinical data, neurologic examination findings, complementary testing, and developmental data were recorded. All nine patients studied had initial psychomotor retardation, despite the frequent case of subsequent intelligence quotient normalization. From a behavioral perspective, half of the cases presented obsessive-compulsive disorder and problems with social relations. Aggressive behavior was common. These cases also presented a high degree of severity of both tics and hyperactivity. The most common drug treatment was methylphenidate. This constellation of fetal alcohol syndrome, Tourette syndrome, and attention deficit-hyperactivity disorder is scantly reported in the literature and is likely underdiagnosed. This particular constellation poses its own prognosis and requires its own treatment.