Biomedical subjects

M T Ferrando-Lucas

Publications and source records attributed to M T Ferrando-Lucas.

4 recordsLinked to original sources

PubMed2006

[Attention deficit hyperactivity disorder: its aetiological factors and endophenotypes].

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.

Attention Deficit Disorder with Hyperactivity↗

PubMed2005

[Written language and intellectual disability].

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.

Learning Disabilities↗

PubMed2003

[Aspects of cognition and language in children with fragile X syndrome].

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.

Child↗

PubMed2002

[The autistic spectrum. An epidemiological study and analysis of possible subgroups].

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.

Autistic Disorder↗