[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.

Lenguaje escrito y discapacidad intelectiva / Writen language and intelectual disability

Introducción. Tras el diagnóstico de discapacidad intelectual es posible ofrecer un pronóstico sobre el grado de autonomía que podrá alcanzar el niño en base a la experiencia previa en función de la etiología de la discapacidad. La capacidad de alcanzar un nivel operativo de lenguaje escrito sigue siendo de difícil respuesta prospectiva. La finalidad de ofrecer un pronóstico basado en la experiencia pasa por el análisis previo de cómo se abordan las disfunciones de aprendizaje en población discapacitada. Desarrollo. Frente al cada vez mayor conocimiento de las bases neurocognitivas de los trastornos específicos del aprendizaje y al cuidadoso abordaje neuropsicológico de que son objeto los niños con trastorno en la adquisición del lenguaje escrito con nivel intelectivo normal, los niños con discapacidad intelectiva siguen padeciendo un abordaje simplista siendo el cociente intelectivo el rasgo considerado como de mayor peso, con poca atención a los aspectos neuropsicológicos, de entorno pedagógico y social, así como aspectos comórbidos que pueden influir en la adquisición de la función; aspectos que sin embargo son motivo de rigurosa valoración en los niños no discapacitados. Conclusiones. El actual concepto de discapacidad intelectiva ha superado la definición en función del cociente intelectual. La amplia variabilidad de la función lectográfica en niños con discapacidad intelectiva no puede ser explicada solo en función de la valoración psicométrica y un amplio abordaje neuropsicológico, tal como se efectúa en población no discapacitada, permitirá la detección de las disfunciones cognitivas, pedagógicas, sociales y patológicas que interfieran en la adquisición del lenguaje escrito (AU)

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 (AU)

[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.

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

Introducción. Producido por la mutación de un gen del cromosoma X, el síndrome X frágil es la causa más frecuente de retraso mental hereditario. Las alteraciones multisistémicas de la afección se deben a la inhibición de la expresión del gen FMR1 y a la disminución o ausencia de proteína FMRP. Las manifestaciones más graves del síndrome son retraso mental y espectro autista, pero son numerosos los trastornos neuropsicológicos que van a formar parte del fenotipo cognitivoconductual (CC) de los afectados, así como son múltiples las manifestaciones clínicas que van a presentar. Objetivo. Evaluar los parámetros que puedan contribuir a la elaboración de un proyecto de actuación consensuada que incluya tanto el diagnóstico precoz y el imprescindible consejo genético, como una intervención multidisciplinar que contemple la globalidad de las necesidades médicas y educativas de los afectados. Metodología. Estudio de las manifestaciones precoces de la enfermedad y aspectos neuropsicológicos de los afectados, mediante un protocolo de estudio que incluye datos biológicos y pedagógicos y una batería de pruebas normativas. Resultados y conclusiones. Los resultados preliminares nos enfrentan al retraso en el diagnóstico y en el consejo genético al no valorar el fenotipo CC, en el que los trastornos del lenguaje han sido el elemento más constante, como signo precoz de las manifestaciones clínicas y como factor de interferencia grave en los aspectos cognitivos y en la evolución del paciente (AU)

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 (AU)