[Neurodevelopment and phenocopies of attention deficit hyperactivity disorder: differential diagnosis]. / Neurodesarrollo y fenocopias del trastorno por deficit de atencion/hiperactividad: diagnostico diferencial.

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is one of the most prevalent neurodevelopmental disorders. Other neurodevelopmental disorders may appear as a comorbidity or mimicking ADHD itself. DEVELOPMENT: This study reviews the high prevalence of other neurodevelopmental disorders (specific learning difficulties, communication disorders, etc.) in patients with ADHD. Moreover, the possible differential diagnoses include the same neurodevelopmental disorders that can occur as a comorbidity. Based on the literature, the study evaluates the role of clinical evaluation and neuropsychology in distinguishing between comorbidity and mimicry. CONCLUSIONS: The clinical evaluation could be insufficient for the comorbid diagnosis of neurodevelopmental disorders. In these cases, a neuropsychological evaluation is generally required, since it can also offer alternative diagnostic hypotheses about the symptoms observed and may therefore be a valuable aid for the differential diagnosis.

TITLE: Neurodesarrollo y fenocopias del trastorno por deficit de atencion/hiperactividad: diagnostico diferencial.Introduccion. El trastorno por deficit de atencion/hiperactividad (TDAH) es uno de los trastornos del neurodesarrollo mas prevalentes. Otros trastornos del neurodesarrollo pueden aparecer de forma comorbida o mimetizar el propio TDAH. Desarrollo. Se revisa la elevada prevalencia de otros trastornos del neurodesarrollo (trastornos especificos del aprendizaje, trastornos de la comunicacion...) en los pacientes con TDAH. Por otro lado, entre los posibles diagnosticos diferenciales se situan los mismos trastornos del neurodesarrollo que pueden aparecer de forma comorbida. Se valorara, de acuerdo a la bibliografia, el papel de la valoracion clinica y la neuropsicologia en la distincion entre comorbilidad y mimetismo. Conclusiones. La valoracion clinica podria ser insuficiente para el diagnostico comorbido de los trastornos del neurodesarrollo. En estos casos, la valoracion neuropsicologica es generalmente necesaria; esta puede igualmente ofrecer hipotesis diagnosticas alternativas de la sintomatologia observada y, por tanto, ser util para el diagnostico diferencial.

[Attention deficit hyperactivity disorder: from a neurodevelopmental perspective]. / Trastorno por deficit de atencion/hiperactividad: perspectiva desde el neurodesarrollo.

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.

TITLE: Trastorno por deficit de atencion/hiperactividad: perspectiva desde el neurodesarrollo.Introduccion. Los trastornos del neurodesarrollo engloban a un grupo heterogeneo de trastornos como la discapacidad intelectual, el trastorno del espectro autista o los trastornos especificos del aprendizaje, entre otros. La reciente inclusion en las clasificaciones internacionales del trastorno por deficit de atencion/hiperactividad (TDAH) dentro de los trastornos del neurodesarrollo parece claramente justificada atendiendo a variables neurobiologicas y clinicas. Desarrollo. El caracter dimensional y la distribucion de diferentes sintomas en la poblacion caracterizan a la mayoria de los trastornos del neurodesarrollo. Se revisan estos aspectos, particularmente desde la sintomatologia y neuropsicologia en el TDAH. El caracter sintomatico dimensional del TDAH contrasta con los criterios diagnosticos de este trastorno de acuerdo a diferentes clasificaciones o guias clinicas. Contrasta igualmente con los datos recogidos a traves de diferentes exploraciones complementarias (escalas, tests...). Conclusiones. El entendimiento del continuo clinico 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 investigacion, el diagnostico y el abordaje de todos ellos. El desarrollo de instrumentos que avalen este componente dimensional es igualmente trascendental.

[The neuroanatomy of attention deficit hyperactivity disorder: neuropsychological and clinical correlates]. / Neuroanatomia del trastorno por deficit de atencion/hiperactividad: correlatos neuropsicologicos y clinicos.

INTRODUCTION: The development of structural magnetic resonance scanning and new methods of analysis has made it possible to explore, in a hitherto unknown way, the neuroanatomical bases of attention deficit hyperactivity disorder (ADHD). Yet, little is known about the relation between the clinical symptoms and the neuropsychological dysfunctions characterising ADHD and the neuroanatomical alterations that are observed. AIM: To explore the relation between neuroanatomy, clinical features and neuropsychology in ADHD. DEVELOPMENT: At group level, there are a number of marked differences between the brain of children, adolescents and adults with ADHD and the brain of subjects with a typical development. These differences are observed cross-sectionally and longitudinally in all the measurements, both in the grey matter and in the white matter. Although still scarce, there is an increasing body of evidence showing that these differences are related with the core symptoms of the disorder and with the degree of clinical dysfunction. They also appear to be associated with cognitive functioning (mainly attention and inhibitory control). CONCLUSIONS: The relation among the different levels of analysis in the study of ADHD bring research closer to the clinical features and allows a better understanding and management of the disorder. Although progress is undoubtedly being made in this field, there are still many questions that need exploring in greater depth. There is a need for a better understanding of the association between the neuroanatomical measurements and each dimension of the symptoms, and their relationship with other neuropsychological processes that are also involved in the disorder.

TITLE: Neuroanatomia del trastorno por deficit de atencion/hiperactividad: correlatos neuropsicologicos y clinicos.Introduccion. El desarrollo de la resonancia magnetica estructural y de nuevos metodos de analisis ha permitido examinar, como nunca antes, las bases neuroanatomicas del trastorno por deficit de atencion/hiperactividad (TDAH). No obstante, poco se sabe todavia sobre la relacion de los sintomas clinicos y las disfunciones neuropsicologicas caracteristicas del TDAH con las alteraciones neuroanatomicas observadas. Objetivo. Explorar la relacion entre neuroanatomia, clinica y neuropsicologia en el TDAH. Desarrollo. A nivel de grupo, existen diferencias marcadas entre el cerebro de niños adolescentes y adultos con TDAH y el cerebro de personas con desarrollo tipico. Estas diferencias se observan transversal y longitudinalmente en todas las medidas, tanto de la sustancia gris como de la sustancia blanca. Aunque todavia escasa, cada vez existe mayor evidencia que señala que estas diferencias se relacionan con los sintomas nucleares del trastorno y con el grado de disfuncion clinica. Tambien parecen asociarse con el funcionamiento cognitivo (principalmente, atencion y control inhibitorio). Conclusiones. La relacion entre los distintos niveles de analisis de estudio del TDAH acerca la investigacion a la clinica y permite comprender y tratar mejor el trastorno. Aunque el avance en este campo es innegable, todavia son muchas las cuestiones que hay que explorar y profundizar en mayor detalle. Se requiere comprender mejor la asociacion entre las medidas neuroanatomicas y cada dimension sintomatologica, y la relacion con otros procesos neuropsicologicos tambien implicados en el trastorno.

[Dysfunction in attention deficit hyperactivity disorder: assessment and response to treatment]. / Disfuncion en el trastorno por deficit de atencion/hiperactividad: evaluacion y respuesta al tratamiento.

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.).

TITLE: Disfuncion en el trastorno por deficit de atencion/hiperactividad: evaluacion y respuesta al tratamiento.El trastorno por deficit de atencion/hiperactividad (TDAH) es un trastorno heterogeneo y complejo sintomaticamente. Su sintomatologia cardinal, la presencia de problemas disejecutivos, la desregulacion emocional de muchos de ellos y la propia comorbilidad, entre otros, condicionaran su expresion clinica y la disfuncion. La tipificacion del TDAH como 'trastorno' requiere una evaluacion precisa del termino 'disfuncion' o 'repercusion'. Los avances en la tipificacion y cuantificacion de la sintomatologia caracteristica del TDAH deberian trasladarse a la medicion y objetivacion de la disfuncion. La estimacion de la disfuncion como una simple interferencia, por clara que sea, podria llevar a una sobreestimacion del diagnostico de este trastorno. Del mismo modo que es ineludible su estimacion para el diagnostico, es igualmente necesaria para la correcta evaluacion de la eficacia de las intervenciones terapeuticas, especialmente a medio y largo plazo. Son necesarios estudios adicionales en este sentido para valorar la eficacia de los tratamientos, sean farmacologicos o no, en diferentes dominios (relacion social, aprendizaje, autoestima, calidad de vida, siniestralidad…).

Mutación de novo en KAT6B, síndrome Say-Barber-Biesecker-Young-Simpson y trastorno específico del lenguaje / De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment

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[Pascual graphomotor test in children with attention deficit hyperactivity disorder, combined type]. / Test grafomotor de Pascual en niños con trastorno por déficit de atención con hiperactividad, tipo combinado.

INTRODUCTION: Different neuropsychological batteries are used in order to define the neurocognitive profile of the patient with attention deficit hyperactivity disorder (ADHD). Pascual graphomotor test has recently been presented; it is useful to study the neurodevelopment in drawing and the non verbal cognitive level in normal children and others with neuropsychiatric disabilities. METHOD: We have studied 45 patient with ADHD, combined type. Pascual and Wechsler tests were performed in all cases before any kind of therapies. No relation was observed between the scores obtained in both tests. A linear correlation was demonstrated between age and graphomotor score with statistical significance. Pascual graphomotor test showed a good sensibility in the screening of mental retardation although a low specificity. CONCLUSIONS: We propose that Pascual graphomotor test should be included in neuropsychological batteries which will be applied in patients with ADHD.

[Subdural effusion in type B Haemophilus influenzae meningitis. A study of 38 cases]. / Derrame subdural en la meningitis por Haemophilus influenzae tipo B. Estudio de 38 casos.

OBJECTIVE: Studying clinical, laboratory and radiologic findings, as well as outcome, observed in patients with meningitis caused by Hib, and its relationship with subdural effusion. MATERIAL AND METHODS: Retrospective study of 38 meningitis caused by Hib. Patients were aged between 3 months and 5 years. Imaging was performed in 26 cases (68%): CT in 21 children (55%) and cranial sonography in 11 cases (29%). EEG was made in 29 patients (76%) and auditory-evoked potentials in 13 (34%). The mean follow-up period after discharge was 24 months. RESULTS: Sixty-six per cent were male and 34% female. Eight cases had subdural effusion. These patients showed higher white cell counts in blood and CSF, higher levels of proteins in CSF, and lower levels of glucose in the same medium. They also had seizures before or during hospitalization, with higher frequency than those without subdural effusion (50% vs 26%) as well as more prolonged fever (127 vs 73 hours). No specific treatment was required in any case. CONCLUSIONS: Subdural effusion is one of the most frequent complications observed in meningitis. Patients frequently present more important clinical and laboratory alterations. This finding is not related with neurologic sequelae and they resolve spontaneously with time.

[Joubert syndrome: a report of 5 cases]. / Síndrome de Joubert: presentación de cinco casos.

OBJECTIVE: To review clinical features, radiological findings and prognosis in Joubert syndrome. MATERIAL AND METHODS: We report 5 children (3 male and 2 female) with the diagnosis of Joubert syndrome by clinical and radiological findings. They were diagnosed in the first year of life, in the Hospital Infantil La Paz (Madrid, Spain), from 1971 to 1996. Three patients have already been published, and here, we report two new cases. RESULTS: Partial absence of the cerebellar vermis, hypotonia and developmental delay were seen in all patients. Other cardinal findings were episodic hyperpnoea (5/5) with periods of apnoea (2/5), abnormal eye movements (2/5) and strabismus (3/5), tongue protrusion (2/5), seizures (1/5), hemifacial spasms (1/5) and occipital meningocele (2/5). Clinical manifestations were first noticed soon after birth. Two patients died in the first 5 years of life, and the rest of the cases actually show severe mental retardation. CONCLUSIONS: Joubert syndrome is a rare and probably underdiagnosed syndrome with bad prognosis. This inherited condition is characterized by agenesis of the cerebellar vermis, mental retardation, hypotonia, episodic hyperpnoea and abnormal eye movements. Additional manifestations have been reported since the original cases were described.

[Sustained effectiveness of osmotic-release methylphenidate: a study of 266 cases]. / Eficacia sostenida del metilfenidato de liberación osmótica: estudio en 266 casos.

INTRODUCTION: Methylphenidate (MTF) is effective for the treatment of attention deficit/hiperactivity disorder (ADHD). Osmotic-release MTF (MTF-O) allows a sustained effect along the day on attention and behaviour in patient with ADHD with a single dose. AIM: To confirm the sustained effectiveness of the MTF-O from the clinical point of view, in the family circle: PATIENTS AND METHODS: Study of 266 patients with ADHD. They were aged between 5 and 17 years. Distribution for sex 3/1 (boys/girls). Treatment with MTF-O was added and retired in two successive weekends, alternating the days. During these four days the following scales were filled at different hours: quantified criteria of DSM-IV-TR, modified ICG-M, and translated and modified Depremb-R. RESULTS: The following finds were observed under treatment: a statistically significant decrease in inattention, hyperactivity and impulsiveness (p < 0.01); a clinical improvement when getting up and going to bed by means of Depremb-R scale (p < 0.01); a reduction of the symptomatic intensity in the criteria of DSM-IV-TR, in the morning and in the afternoon (p < 0.01); a global improvement in attention and behaviour when getting up, lunchtime, dinner, and before going to bed according to the modified ICG-M. CONCLUSION: MTF-O improves characteristic symptoms of ADHD from the first hours of the morning until the hour of going to bed according to family assessment.

[The effects of methylphenidate on cognitive-attentional processes. The use of continuous performance tests]. / Efectos del metilfenidato en los procesos cognitivo-atencionales.Uso de los test de ejecución continuada.

INTRODUCTION AND DEVELOPMENT: Numerous trials have demonstrated the efficacy of stimulants on age-inappropriate levels of inattention, impulsivity and hyperactivity of patients with attention deficit/hyperactivity disorder (ADHD). Different externalizing (aggressive, conduct, oppositional) and internalizing (emotional) associated features can also get improved with stimulants. Effect of stimulant medication can be observed in different objective laboratory-neuropsychological test too, especially in Continuous Performance Tests (CPT). CPT have a good specificity and sensibility in diagnosis of ADHD although they are not diagnostic themselves. Errors of omissions and commissions are more frequent in ADHD patients than in controls. Responses to these tests improve under methylphenidate. General recommendations in ADHD treatment include systematic monitoring of medication effects from clinical point of view. CONCLUSIONS: CPT offer different advantages in this monitoring: good validity, objective measures and easy administration. Psychological measures, particularly CPT, can support clinical diagnosis and pharmacological monitoring in patients with ADHD.

[Larsen syndrome: two reports of cases with spinal cord compromise]. / Síndrome de Larsen: a propósito de dos casos con afectación medular.

INTRODUCTION: Larsen syndrome is characterised by untreatable congenital dislocation of multiple body joints, along with marked foot deformities. These patients have a flattened face with a short nose, a broad depressed nasal bridge and a prominent forehead. In this clinical note our aim is to report two cases that coursed with spinal cord compromise. CASE REPORTS: Case 1: an 18-month-old female with congenital dislocation of knees and hips. The patient had a flat face, sunken root of nose, and carp mouth. Magnetic resonance imaging of the spine showed severe cervical kyphosis secondary to malformation and hypoplasia of the cervical vertebral bodies and important compression of the spinal cord. Clinically, there were also signs of upper motor neuron syndrome, which was especially prominent in the lower limbs. Case 2: a 14-year-old male with a characteristic face and dislocation of the head of the radius. The patient presented amyotrophy of the muscles in the right hand and clinical signs of lower motor neuron syndrome due to neuronal damage secondary to spinal malformations. CONCLUSIONS: Larsen syndrome is an infrequent osteochondrodysplasia. Alteration of the spine is common and may give rise to spinal cord compression with varying clinical repercussions which require surgical treatment in the early years of the patient's life.

[Asperger syndrome: diagnosis and treatment]. / Sindrome de Asperger: diagnostico y tratamiento.

INTRODUCTION AND DEVELOPMENT: Asperger syndrome is a pervasive developmental disorder characterized by social impairments, restricted interests, and repetitive behaviours. It is not associated with delay in language development as others pervasive developmental disorders. Diagnosis should be made based on a complete clinical history and psychological assessment; specific diagnostic instruments are useful. CONCLUSION: Asperger syndrome has no cure, but clinical features and those secondary to comorbid conditions could improve with an early diagnosis and correct individualized interventions.

Migraine symptoms related to the percutaneous closure of an ostium secundum atrial septal defect: report of four paediatric cases and review of the literature.

Several publications have recently suggested that atrial septal defect may be associated with the physiopathology of headache with migraine-type characteristics. We describe four previously asymptomatic paediatric patients with atrial septal defect who underwent percutaneous Amplatzer septal occluder device implantation and who subsequently developed symptoms compatible with migraine headache. The cases had normal echocardiograms after the intervention and a benign course with headache improvement after several weeks or months. There are paediatric patients with atrial septal defect who may dramatically develop migraine symptoms with or without aura following percutaneous correction of their defect. Large paediatric studies are needed to offer accurate prognoses for children and their families. The possibility of using clopidogrel to treat this type of headache is subject to debate.

[Neurocutaneous melanosis and congenital melanocytic nevi: report of 6 cases]. / Melanosis neurocutánea y nevus melanocítico congénito: presentación de 6 casos.

Six patients with congenital giant or multiple melanocytic nevi are studied retrospectively. The clinical, electroencephalographic and neuro-imaging findings for the four patients with neurocutaneous melanosis are described. The other two patients had only cutaneous melanosis. Three of the four with neurocutaneous alterations suffered seizures with flexion spasms and one had partial seizures. The seizures were treated and brought under control in three cases, whereas in the fourth untreated patient, only a single seizure was seen. Three patients have developed with lower intelligence levels and attention deficit syndrome. The other, whose intelligence is normal, suffers mild left hemiparesis secondary to porencephaly. None has developed hydrocephalus or symptoms of intracranial hypertension at the stages of follow-up reported, with ages ranging from 5 and 12 years. Contrary to previous reports, we found that the survival prognosis for patients with neurological involvement is favorable after a minimum follow-up of 5 years.

Miopatía de Bethlem e hiperqueratosis folicular: una clave importante para el diagnóstico / Bethlem myopathy and folicular hyperkeratosis: an improtant key for the diagnosis

La miopatía de Bethlem es una forma rara de miopatía autosómica dominante relativamente benigna. Se describe el caso de una paciente de 4 años que acude por debilidad muscular, síndrome artrogripótico y tortícolis congénita en la que llama la atención la presencia crónica, desde los primeros meses de vida, de numerosas pápulas de pequeño tamaño que afectan a los folículos cutáneos en la superficie extensora de brazos, nalgas y extensoras y flexoras de piernas compatibles con una hiperqueratosis folicular. Este caso es un ejemplo de la importancia de la exploración pediátrica completa, incluyendo la cutánea, de todo paciente con sospecha de enfermedad neuromuscular, pues el llamativo hallazgo dermatológico contribuyó de forma decisiva a un diagnóstico exacto, pudiendo ofrecer un pronóstico y tratamiento adecuados (AU)

Bethlem myopathy is a rare form of myopathy with autosomal dominant inheritance and relatively good prognosis. We describe a 4 year aged patient with muscle weakness, arthrogryposis and congenital torticollis; since the first months of life, she had numerous small-sized papules which affect skin follicles in extensor regions of buttocks and arms, as well as extensor and flexor areas of both legs; this condition is compatible with a follicular hyperkeratosis. This case is a clear example that shows the importance of a pediatric complete physical examination, including skin, of all patients with suspicion of neuromuscular diseases; the striking dermatological finding in this patient decisively contributed to a final diagnosis, prognosis and therapeutic approaches (AU)

Amioplasia congenital: importancia de un diagnóstico que ofrece un pronóstico benigno / Congenital amyoplasia: importance of a diagnosis that offers benign prognosis

La amioplasia congenital es un síndrome congénito artrogripótico múltiple específico y esporádico no-hereditario caracterizado por una disminución de la masa muscular. Se trata de la causa más frecuente de artrogriposis múltiple. Nuestro propósito es describir un caso clínico con afectación predominante en miembros superiores, resaltando los datos clínicos claves (sobre todo las peculiares características Facio-craneales que tanto facilitan el diagnóstico), el buen pronóstico a largo plazo y tranquilizador consejo genético que puede ofrecerse una vez realizado un diagnóstico adecuado (AU)

The amyoplasia congénita is a specific multiple arthrogrypotic congential syndrome, sporadic, non-hereditary, characterized by a decrease of muscle mass. It is the most frequent cause of multiple arthrogryposis. Our objective is to describe clinically a typical case with predominant alterations in upper extremities, highlighting the cardinal clinical data (especially all peculiar facial and cranial features that facilitates its diagnosis), the good long-term prognosis and the reassuring genetic counseling that could be offered once a correct diagnosis has been made (AU)