[Girls with fragile X syndrome: a model for specific developmental disorders]. / Niñas con síndrome X frágil: un modelopara los trastornos específicos del desarrollo.

INTRODUCTION AND DEVELOPMENT: The prevalence of specific developmental disorders (SDD) in everyday practice is high, and an interdisciplinary approach is required for their diagnosis and management. The ultimate pathophysiology of these disorders remains a great challenge to researchers and progress is limited by the fact that there are no experimental models that reproduce the cognitive-behavioural complexity of the human being. CONCLUSIONS: Girls with fragile X syndrome, which has a wide range of cognitive-behavioural signs and symptoms that allow the clinical features of SDD to coincide in the same person, in whom the intellectual quotient is preserved and for whom our present knowledge of the syndrome does offer pathophysiological structural bases in the central nervous system, may constitute a valuable model to help us understand SDD.

[Attention deficit hyperactivity disorder: its aetiological factors and endophenotypes]. / Trastorno por déficit de atención e hiperactividad: factores etiológicos y endofenotipos.

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is one of the most frequent reasons for patients' visits in everyday practice. The academic and social distortion it produces in those affected by this condition have turned it into a subject that is receiving growing attention from researchers and the progress being made in the neurosciences means that it is being investigated from a wide range of approaches. Genetic aspects, as well as anatomical and neurobiological markers, are some of the new lines of research that are being used together with a more precise neuropsychological approach to obtain a more comprehensive understanding of ADHD. Such knowledge now involves genetic factors, centres of cognitive disorder and the search for endophenotypes that account for the complexity of its semiology. DEVELOPMENT: The primary cognitive deficits in ADHD appear to be the underlying problem in the disorder, special attention also being given to both the executive functions and the distortion of the capacity to inhibit responses. Furthermore, anatomical factors have been related to the type and severity of the symptomatology of the disorder, although the dispersion of the results and the genetic findings that focus their attention on anomalous alleles for dopamine transporting and receptor genes suggest that the disorder is more complex. CONCLUSIONS: The different aetiological factors that have been associated to the disorder and the variability in the semiology of ADHD place us before a situation in disarray; the determination of endophenotypes, however, could enable us carry out a better systematisation of a disorder that is currently still a long way from being fully understood.

Trastorno por déficit de atención e hiperactividad: factores etiológicos y endofenotipos / Attention deficit hyperactivity disorder: its aetiological factors and endophenotypes

Introducción. El trastorno por déficit de atención e hiperactividad(TDAH) constituye uno de los motivos más frecuentes deconsulta en la práctica diaria. La distorsión académica y socialque produce en los afectados lo ha convertido en un polo de investigacióncreciente y el avance en neurociencias implica que la investigacióncontemple perspectivas muy amplias. Los aspectos genéticos,así como los, marcadores anatómicos y neurobioquímicos,son algunas de las nuevas vías de investigación que, junto con unabordaje neuropsicológico más preciso, permiten un mayor conocimientodel TDAH, que en la actualidad contempla factores genéticos,núcleos de trastorno cognitivo y búsqueda de endofenotiposque expliquen la complejidad de su semiología. Desarrollo. Los déficitcognitivos primarios en el TDAH parecen estar en la base deltrastorno, con especial atención tanto a las funciones ejecutivascomo a la distorsión de la capacidad de inhibir respuestas. Porotro lado, se han relacionado los factores anatómicos con el tipo yla gravedad de la semiología del trastorno, aunque la dispersión deresultados y los hallazgos genéticos que centran su atención enalelos anómalos para los genes transportadores y receptores dedopamina, apuntan a una mayor complejidad del trastorno. Conclusiones.Los diferentes factores etiológicos referidos al trastornoy la variabilidad semiológica del TDAH nos enfrentan a una situaciónconfusa frente a la cual la determinación de endofenotipospodría significar una mejor sistematización de un trastorno queaún estamos lejos de comprender en toda su amplitud en la actualidad

Introduction. Attention deficit hyperactivity disorder (ADHD) is one of the most frequent reasons for patients’visits ineveryday practice. The academic and social distortion it produces in those affected by this condition have turned it into a subjectthat is receiving growing attention from researchers and the progress being made in the neurosciences means that it is beinginvestigated from a wide range of approaches. Genetic aspects, as well as anatomical and neurobiological markers, are some ofthe new lines of research that are being used together with a more precise neuropsychological approach to obtain a morecomprehensive understanding of ADHD. Such knowledge now involves genetic factors, centres of cognitive disorder and thesearch for endophenotypes that account for the complexity of its semiology. Development. The primary cognitive deficits inADHD appear to be the underlying problem in the disorder, special attention also being given to both the executive functions andthe distortion of the capacity to inhibit responses. Furthermore, anatomical factors have been related to the type and severity ofthe symptomatology of the disorder, although the dispersion of the results and the genetic findings that focus their attention onanomalous alleles for dopamine transporting and receptor genes suggest that the disorder is more complex. Conclusions. Thedifferent aetiological factors that have been associated to the disorder and the variability in the semiology of ADHD place usbefore a situation in disarray; the determination of endophenotypes, however, could enable us carry out a better systematisationof a disorder that is currently still a long way from being fully understood

[Written language and intellectual disability]. / Lenguaje escrito y discapacidad intelectiva.

AIMS: Following the diagnosis of intellectual disability, a prognosis can be offered concerning the degree of autonomy the child will be able to achieve based on prior experience, but which depends on the aetiology of the disability. It is still difficult to give a prospective answer regarding the capacity to reach an operative level of written language. The goal of being able to offer an experience-based prognosis involves prior analysis of how learning dysfunctions are approached in the disabled population. DEVELOPMENT: Although we have an increasingly deeper understanding of the neurocognitive foundations of specific learning difficulties and the careful neuropsychological management of children with disorders affecting the acquisition of written language with a typical intellectual level, those with intellectual disability continue to be treated using a simplistic approach in which their intelligence quotient is still taken as the most relevant feature. Little attention is paid to neuropsychological aspects, the pedagogical and social environment or comorbid aspects that may affect the acquisition of the function. Yet, these are aspects that are submitted to thorough evaluation in children who are not disabled. CONCLUSIONS: The current concept of intellectual disability has gone beyond the definition based on the intelligence quotient. The wide variability in the reading function in children with intellectual disability cannot be explained only according to a psychometric assessment. A more complete neuropsychological approach, as carried out in the population with no disability, will enable us to detect cognitive, pedagogical, social and pathological dysfunctions that interfere with the acquisition of written language.

[Cognitive aspects in girls with fragile X syndrome]. / Aspectos cognitivos en niñas con sindrome X fragil.

INTRODUCTION AND AIMS: Fragile X syndrome (FXS) is the first cause of intellective dysfunction due to hereditary reasons, but above all it is a multisystemic pathology, in which the cognitive behavioural phenotype is going to mark the child's entire school and social life. An early diagnosis is fundamental for proper genetic counselling and for the pedagogical approach. In girls, this diagnosis is hindered by a poorer knowledge of the semiology and because of the variability of the symptoms. Recognising the most significant clinical signs that suggest a diagnosis during early childhood is fundamental. DEVELOPMENT: An analysis of the literature offered us very few reports of girls affected by FXS and most of them are to be found in publications about genetics. There is often no clear separation between adulthood and childhood or between permutation and complete mutation, and extreme shyness and low self esteem are the most commonly reported data. Intellective capacity is normal in 40% of those affected by complete mutation; the pragmatic aspects of language and difficulties at school that can take on symptoms of non verbal learning disorder are the most significant data at school age; the incidence that the number of CGG repetitions, the degree of methylation and the FMR protein rate can have on both the symptomatology and the intensity with which they appear do not offer any homogeneous data; the attitude of the school and familial environment is a factor that has recently been considered to be of great importance in the maintenance or improvement of behavioural aspects. CONCLUSIONS: Although the discovery of the FMR1 gene provided us with a greater understanding of the symptomatology of FXS in girls, the scarcer knowledge available about its manifestations means that we can find ourselves before the problem of possibly mistaking it for learning disorders. The greater variability of its clinical symptoms and the shortage of studies that have appeared in publications on paediatrics and neuropaediatrics may be the underlying reason behind this lack of knowledge. Spanish language publications practically ignore cases of girls with FXS.

[Aspects of cognition and language in children with fragile X syndrome]. / Aspectos cognitivos y del lenguaje de niños con síndrome X frágil.

INTRODUCTION: Fragile X syndrome, which is produced by mutation of a gene in the X chromosome, is the most frequent cause of hereditary mental retardation. The multisystemic alterations of the disorder are due to the inhibition of the expression of the FMR1 gene and to the lack or absence of FMRP protein. Mental retardation and autistic spectrum constitute the most serious manifestations of the syndrome, but there are numerous neuropsychological disorders that make up the cognitive behavioural (CB) phenotype of patients, and the number of clinical manifestations they are going to present is also high. AIMS: The aim of the study was to evaluate the parameters that can contribute to the elaboration of a set of generally agreed guidelines that include early diagnosis and the indispensable genetic counselling, as well as a multidisciplinary intervention that contemplates, in a global manner, the medical and educational needs of those affected. METHODOLOGY: The method used to conduct the study involved an analysis of the early manifestations of the disease and the neuropsychological aspects of those affected, by means of a study protocol that includes biological and pedagogical data together with batteries of standard tests. RESULTS AND CONCLUSIONS: Preliminary results confront us with the delay in diagnosis and in genetic counselling because the CB phenotype, in which language disorders were the most constant element, is not taken as being an early sign of the clinical manifestations or as a serious interference factor in the cognitive aspects in the progress of the disease.

[The autistic spectrum. An epidemiological study and analysis of possible subgroups]. / Espectro autista. Estudio epidemiológico y análisis de posibles subgrupos.

INTRODUCTION: Although the concept of autistic spectrum may be useful to explain and describe the heterogeneity of the syndrome, its aetiology is still unknown. Different disorders have been reported as the biological basis of autism. Early diagnosis and a multi disciplinary approach to the condition are essential for effective psychopaedagogic treatment. OBJECTIVE: To determine whether there is a relationship between the severity of the syndrome of autism and the course of the disorder, as a function of the presence or absence of neurological features, and to define homogeneous subgroups by detecting etiological variables which may be common to them. PATIENTS AND METHODS: 46 children defined as being within the spectrum of autism, in whom the diagnosis was confirmed on the autistic spectrum inventory (IDEA/Rivi re 97). Parameters studied: family history, perinatal risk, age of onset, complementary investigations and neurological features. RESULTS: The diagnosis was confirmed in 18 children; of the others 14 had a specific defect of the development of language. There was an almost complete absence of underlying neurological disorders, although this may have been due to dispersion of the complementary investigations done. CONCLUSIONS: Specific disorders of the development of language are the main differential diagnoses to be considered together with the autistic spectrum. The diagnosis of autism is clinical, but the heterogeneity of the medical approach interferes with the overall assessment of the spectrum favoring behavioural and underestimating the biological aspects. This means that the problem should be reconsidered so as to obtain uniform guidelines for action.

Espectro autista. Estudio epidemiológico y análisis de posibles subgrupos / The autistic spectrum. An epidemiological study and analysis of possible subgroups

Introducción. Aunque el concepto de espectro autista permite explicar y describir la heterogeneidad del síndrome la etiología del trastorno sigue siendo desconocida. Diferentes patologías han sido documentadas en la aproximación a las bases biológicas del autismo. El diagnóstico temprano y un abordaje multidisciplinar del trastorno son básicos para la eficacia de la intervención psicopedagógica. Objetivo. Determinar si existe relación entre la gravedad del síndrome autista y la evolución del trastorno, en función de la presencia o no de patología neurológica, y definir subgrupos homogéneos detectando posibles variables etiológicas comunes. Pacientes y métodos. Se incluyen en el estudio 46 niños diagnosticados de espectro autista, cuyo diagnóstico se confirmó mediante el inventario de espectro autista (IDEA/ Riviére-97). Parámetros revisados: antecedentes familiares, riesgo perinatal, edad de inicio, exámenes complementarios y patología neurológica. Resultados. Se confirmó el diagnóstico en 18 niños; del resto de pacientes, 14 presentaban un trastorno específico del desarrollo del lenguaje. Práctica ausencia de patología neurológica subyacente, pero este dato puede estar condicionado por la dispersión de exámenes complementarios efectuados. Conclusiones. Los trastornos específicos del desarrollo del lenguaje constituyen el primer diagnóstico diferencial del espectro autista. El diagnóstico de autismo es clínico, pero la heterogeneidad del abordaje médico interfiere en la consideración global del espectro, primando los aspectos conductuales e infravalorando los biológicos, y hace necesaria una reflexión para consensuar un protocolo unitario de actuación (AU)

[Incidence of occipito-cervical instability in Down syndrome]. / Incidencia de la inestabilidad occipito-cervical en el síndrome de Down.

Seventy children with Down Syndrome (22 boys and 48 girls), ages ranging between five and seventeen years, were evaluated for instability of the upper cervical-spine. X-ray study of this region in lateral projection was did, in neutral position and flexion-extension of the neck. The distance between the anterior arch of the atlas and odontoid process as well as the displacement of the basion in relation to the first cervical vertebrae were examined. Twelve patients (17.14 percent) exhibited motion alterations of the region studied: atlanto-axial instability in eight cases (interval bigger than 4.5 mm) and atlanto-occipital instability in four cases.