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Biomedical subjects

C García-Nonell

Publications and source records attributed to C García-Nonell.

5 recordsLinked to original sources

[The treatment of oppositional defiant disorder].

INTRODUCTION: Oppositional defiant disorder (ODD) affects between 2 and 16% of children. It is a problem that sometimes has a very important effect on the whole family structure. Dealing with the problem in an inappropriate way, or simply interpreting it wrongly, entails a high risk of developing a conduct disorder in adolescence. DEVELOPMENT: This paper reviews the concept of ODD and of conduct disorder, and highlights the theoretical foundations that underlie two types of behavioural intervention, namely, the behaviourist model and the cognitive model. Two programmes, each based on one of the two theoretical models, are described. The different pharmacological options that can facilitate the therapeutic process are also outlined. CONCLUSIONS: Emphasis is placed on a therapeutic approach to ODD through psychological interventions based on guidelines designed to orientate the family and the school. This intervention cannot be founded on a general educational model, but rather it has to rest on knowledge of the dysfunctional cognitive characteristics of each child. In severe cases, the intervention must be complemented with the use of medication.

Attention Deficit and Disruptive Behavior Disorder↗

[Autism in fragile X syndrome].

INTRODUCTION: Fragile X syndrome (FXS) is the most frequent cause of hereditary mental retardation, as well as being a common cause of learning disorders and psychiatric problems. It is characterised by very specific physical and behavioural phenotypes. For this reason FXS is an excellent model of the relation between behaviour and genes. FXS is also the commonest cause of autism identified to date. Between 2 and 6% of children with autism have FXS, and approximately 3% of children with FXS have autism. DEVELOPMENT: The paper takes these findings as the basis on which to deal with the complex relations between FXS and autism. The relations between autism and gene FMR1, which causes FXS, are not limited to the complete mutation -some extremely interesting correlations between autism and the premutation of this gene are also being found. CONCLUSIONS: The discovery of an increase in mRNA in gene FMR1 in the premutation has facilitated our understanding of the complex pathology associated to the premutation. These findings open up a line of research that will not only enable us to further our understanding of the genetics of FXS, but can also help us to comprehend the complex genetic interactions that give rise to autism.

Autistic Disorder↗

[Sustained attention in the preclinical phase of Alzheimer's disease].

INTRODUCTION: Deterioration of attention in the preclinical phase of dementia of Alzheimer s type (DAT) is not very well known neither available studies are conclusive. OBJECTIVE: We outline if would be possible to identify a deficit of sustained attention in preclinical phase of DAT and if this attentional dysfunction could help to identify those patients, referred by subjective memory complaints (SMC), who will progress in a few years to DAT. PATIENTS AND METHODS: We compared basal exploration in a task of sustained attention (CPT) of 70 patients referred by SMC and followed longitudinally for 2 years. Twenty seven patients developed probable DAT and forty three remained clinically stable. RESULTS: Patients who will be diagnosed 2 years later with DAT performed significantly more poorly than patients who did not develop DAT. Patients who will be diagnosed 2 years later with DAT made a higher number of omission errors and obtained a lower number of correct responses. CONCLUSION: CPT paradigm is a vigilance task that detects deterioration of sustained attention in the preclinical phase of DAT and could be an objective indicator of the cognitive decline in the preclinical phase of Alzheimer s disease.

Activities of Daily Living↗

[Validation of the translation to Catalan and Spanish of cognitive evoked potential N400].

INTRODUCTION: The cognitive evoked potential N400 permits an objective assessment of the verbal semantic processing. It has been suspected to be clinically useful in cognitive abnormalities and a correlation with attentional and memory functions has been found. The present study tries to validate the translation and adaptation of the English paradigm to the Catalan and Spanish languages. METHOD: The study was performed on 16 healthy volunteers with Catalan native language and 16 volunteers with Spanish native language. Three blocks of 50 sentences (4-9 words) were administered using headphones. The last word of 50 % of the sentences was incongruent. The beginning of this word was the trigger for the EEG average. EEG leads used were: Fz, Cz, Pz, C3, C4, T3, T4 with biauricular reference. The measures were amplitude and latency of the potential obtained after the subtraction of the EEG average of congruent and incongruent sentences. A t-test for one sample (the original potential) was applied. RESULTS: Amplitude and latency of the potential obtained by the Catalan and Spanish languages were not result statistically different from the original potential. The major amplitude was obtained in Cz. Mean amplitudes: Catalan language: 5.3 2.3 V (95 % CI for the difference: 0.39 2.12 V); Spanish language: 5.2 2.3 V (95 % CI for the difference: 0.43 2.32 V). CONCLUSIONS: The Catalan and Spanish version of the N400 evoked potential offer the possibility to use an objective instrument for the study of language in neuroscience.

Adult↗

[Williams syndrome: memory, visuospatial and visuoconstructive functions].

INTRODUCTION: Williams syndrome (WS) is a dominant autosomal genetic syndrome resulting from a microdeletion on chromosome 7. This deletion gives rise to certain characteristic physical traits, systemic pathologies and a cognitive behavioural pattern that is characterised by the relative preservation of linguistic abilities with very striking visuospatial deficits. CASE REPORTS: We describe the neuropsychological features of three patients with WS, diagnosed by means of a cytogenetic study, and their mnemonic functions and visuospatial skills are explored. CONCLUSIONS: The results obtained in the study of these three patients reinforce the idea, already acknowledged in the literature, of the marked visuospatial difficulties. They also account for the need for an early diagnosis and an extensive knowledge of the cognitive profile of these patients so as to allow the planning of a stimulation that strengthens the cognitive possibilities of children suffering from this syndrome as much as possible.

Adolescent↗