Biomedical subjects

J Artigas-Pallarés

Publications and source records attributed to J Artigas-Pallarés.

At least 19 recordsLinked to original sources

PubMed2006

[Sluggish cognitive tempo: symptoms of predominantly inattentive attention deficit hyperactivity disorder or a new clinical entity?].

INTRODUCTION: The attention deficit/hyperactivity disorder (ADHD) is an heterogeneous entity with three accepted subtypes. This article reviews changes in the diagnostic criteria and controversies around the ADHD subtypes. DEVELOPMENT: We review the sluggish cognitive tempo, construct which has been associated with the ADHD predominantly inattentive subtype. We illustrate this construct through examining clinical cases that manifest 'sluggish cognitive tempo' symptoms. CONCLUSION: This article raises questions such as the utility of the sluggish cognitive tempo in the diagnosis of ADHD predominantly inattentive, and the possibility that it is a clinical entity not described up to the present date.

Adolescent↗

PubMed2006

[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↗

PubMed2006

[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↗

PubMed2006

[Pharmacological treatment of mental retardation].

INTRODUCTION: Mental retardation (MR) is defined by the simultaneous appearance of a low intellectual level and an inability to adapt to the demands of the surroundings, beginning either in childhood or during adolescence. Although it is to expected that in the future it will become possible to treat intellectual disability itself by pharmacological means, at present we can only act on the behavioural and neurological syndromes that accompany MR. DEVELOPMENT AND CONCLUSIONS: This review looks at the different pharmacological agents that may improve the problems that usually make it more difficult for a patient with MR to adapt within the family, at school and in the workplace. The neuropsychiatric disorders that most often require pharmacological treatment include attention deficit, hyperactivity, behavioural disorders, autism, anxiety, aggressiveness, self-injury and affective disorders. The most frequently used drugs are stimulants, atypical antipsychotics and selective serotonin reuptake inhibitors (SSRI). Their characteristics and application in the different situations that require medical attention are described. The pharmacological treatment of certain common genetic syndromes that involve MR and which are highly specific in their behavioural expression are also discussed.

Child↗

PubMed2006

[Behavioural phenotypes in genetic mental retardation].

INTRODUCTION: Based on clinical and genetic knowledge about certain syndromes, in recent decades the concept of behavioural phenotypes has been developed in an attempt to deal with the complex relations between genes and behaviour. The model is not linear but rather each type of behaviour is determined by the interaction of different genes and modulated by environmental factors. DEVELOPMENT AND CONCLUSIONS: The aim of this review is to provide a global view concerning the concept of 'behavioural phenotypes' based on the description of the molecular mechanisms and clinical observations of some syndromes. There is clearly a need for geneticists, who work in a laboratory, and clinicians, who can offer qualitative and quantitative data about behaviour in certain genetic syndromes, to work in collaboration. For this reason this study describes the clinical instruments that make it possible to evaluate the core aspects of behaviour and hence undertake their scientific study in situations in which their genetic dysfunction is already known.

Behavior↗

PubMed2006

[From the clinical to the genetic diagnosis of Prader-Willi and Angelman syndromes].

INTRODUCTION AND DEVELOPMENT: Angelman syndrome (AS) is characterised by severe mental retardation (MR), the absence of language, ataxia and/or tremors in the extremities and a characteristic behavioural phenotype with a happy behaviour and hyperactivity. Patients often show signs of microcephaly and convulsions. Prader-Willi syndrome (PWS) is characterised by acute hypotonia and feeding problems in the neonatal period, and triggers an uncontrollable appetite in the infant that leads to obesity. Most patients have some degree of MR, behavioural disorders and hypogonadism. Both pathologies are caused by a number of genetic mechanisms that affect the 15q11-q13 region regulated by genomic imprinting, which means that only one of the two copies of the genes in this region will be functional, depending on which parent they come from. The physical or functional absence of genes that are only expressed by the mother's chromosome 15 causes PWS and gentic anomalies which affects the UBE3A gen mother's copy causes AS. CONCLUSIONS: It is important to confirm the clinical diagnosis and to establish the genetic mechanism responsible for the two syndromes, both for their consequences as regards the prognosis and for genetic counselling; it is therefore important to draw up a diagnostic algorithm.

Algorithms↗

PubMed2005

[Syndromic autism: I. General aspects].

INTRODUCTION AND DEVELOPMENT: The diagnosis of autism is based on the identification of certain behavioural criteria, but there is no biological test that allows us to diagnose the disorder. Yet, a considerable number of cases of autism, estimated to be somewhere between 11 and 37%, are linked to specific syndromes that can be identified according to their clinical characteristics, or by means of some biological marker. These cases are known as syndromic autism or 'double syndromes'. There is a relation between autism and certain genetic and metabolic diseases, epilepsy, infections of the nervous system, intrauterine exposure to certain substances and perinatal pathologies. CONCLUSIONS: The aim of this review is to guide the professional in the diagnosis of autistic children in order to rationalise the process by ruling out any underlying disease or syndrome related to the autistic condition. At the same time, we stress aetiological aspects of these syndromes, which make it easier to understand the biological bases of autism.

Autistic Disorder↗

PubMed2005

[Syndromic autism: II. Genetic syndromes associated with autism].

INTRODUCTION AND DEVELOPMENT: In this study we report on the different genetic syndromes in which autism has been described as one of the possible manifestations. CONCLUSIONS: Certain genetic syndromes are providing us with extremely valuable information about the role played by genetics in autism. This is the case of the following syndromes: Angelman syndrome, Prader-Willi syndrome, 15q11-q13 duplication, fragile X syndrome, fragile X premutation, deletion of chromosome 2q, XYY syndrome, Smith-Lemli-Opitz syndrome, Apert syndrome, mutations in the ARX gene, De Lange syndrome, Smith-Magenis syndrome, Williams syndrome, Rett syndrome, Noonan syndrome, Down syndrome, velo-cardio-facial syndrome, myotonic dystrophy, Steinert disease, tuberous sclerosis, Duchenne's disease, Timothy syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert syndrome, Lujan-Fryns syndrome, Moebius syndrome, hypomelanosis of Ito, neurofibromatosis type 1, CHARGE syndrome and HEADD syndrome.

Autistic Disorder↗

PubMed2005

[The neuropsychological phenotype of attention deficit hyperactivity disorder: are there differences among subtypes?].

INTRODUCTION: Recent studies suggest that the ADHD subtypes would be best conceptualized as separate clinical entities, based on their epidemiology, central and associate symptomatology. OBJECTIVES: To determine the differences and similarities between subtypes in its associate symptomatology, specifically in the neuropsychological phenotype of executive dysfunction. PATIENTS AND METHODS: A group of children between 6 and 14 years of age with a diagnosis of ADHD-innattentive subtype (DESAT, n = 20) and another with ADHD-combined subtype (COMB, n = 39). RESULTS: Overall, the COMB subject sample displayed lower performance than DESAT group. Statistically significant differences were found in Kaufman-ABC-hands movement subtest, Wisconsin Card Sorting Test (WCST)-total error and WCST-conceptual level. CONCLUSIONS: The subtypes differ significantly in measures or non verbal working memory, hindsight, foresight, and motor control. Both groups share a deficit in response output speed and verbal working memory. We hypothesized areas of cognitive superiority for each subtype: spatial memory for the inattentive and gestaltic composition for the combined. Results provide evidence to support quantitative and qualitative differences in the neuropsychological profile between the ADHD-innatentive and combined subtypes.

Attention Deficit Disorder with Hyperactivity↗

PubMed2003

[Comorbidity in attention deficit hyperactivity disorder].

In this paper we review the aspects linked with the comorbidity of attention deficit hyperactivity disorder (ADHD). The disorders most frequently associated with ADHD are: Tourette syndrome, generalised development disorders, communication disorders, learning disorders, coordination development disorders, behavioural disorders, anxiety disorders, affective disorders and mental retardation. From the neurocognitive point of view, the executive functions play an important role in ADHD and from the neuroanatomical point of view there is involvement of the frontostriatal circuits. The functional model of ADHD based on these functions and these structures enables us to understand the comorbidity with the above mentioned processes. Given the high rate of comorbidity of ADHD it is important to identify the associated problems in order to rationalise the psychological approach and pharmacological treatment employed. We also review the therapeutic implications that comorbidity entails.

Attention Deficit Disorder with Hyperactivity↗

PubMed2003

[Cognitive profiles of borderline intelligence. The boundaries of mental retardation].

Few studies have been conducted on children and teenagers with borderline intelligence (BI) as a collective that shares this condition. In this paper we discuss the concept of intelligence and analyse the different cognitive profiles with which BI can be expressed. We also evaluate how aspects linked to a 'g' factor of intelligence and those linked to executive functions are involved. Among the former, how fast information is processed may play a significant role and would be related to a homogeneous BI profile. On the other hand, executive deficits would lead to BI with the passing of the years and would be linked to selective deficiencies that are related to learning disorders, language disorders and attention deficit hyperactivity disorder. We highlight the need to individualise each case in order to determine the most suitable educational needs.

Child↗

PubMed2002

[Problems associated with dyslexia].

OBJECTIVE: In this article we review the disorders of development which affect learning and may be associated with dyslexia. DEVELOPMENT: Although the cognitive basis of dyslexia is a phonological deficit, it is not uncommonly associated with other disorders whose deficit is not necessarily related to the dyslexia from a physiopathological point of view. The problems which usually accompany dyslexia are: attention deficit with hyperactivity, dysgraphia, dyscalculia and disorders of the development of coordination. The starting point for understanding this comorbidity is finding broad, dysfunctional areas of the brains of dyslexic patients beyond those theoretically involved in dyslexia. Each of these disorders may or may not occur together with dyslexia. There are even some subtypes which are defined by being associated with dyslexia, leading to the conclusion that in some cases there are underlying common mechanisms. It is necessary to avoid confusion arising over dyslexia due to comorbidity with other conditions.

Agraphia↗

PubMed2002

[Behaviour phenotypes].

INTRODUCTION: In the same way as the genetic basis of disease and developmental disorders with behavioural and intellectual features are being discovered, the opportunity of studying how genes may affect conduct is also developing in both dysfunctional and normal situations. DEVELOPMENT: The most useful models for studying this problem are the genetic disorders in which the genetic defect has been discovered or is being traced. In parallel with advances in genetics, the behaviour patterns found in each disorder are also being defined and are known as behaviour phenotypes. CONCLUSIONS: In this article we aim to illustrate information currently available in the field of behaviour phenotypes. The behaviour and intellectual characteristics of the following syndromes are therefore described: fragile X, premutation of the fragile X syndrome, velocardiofacial, Prader Willi, Rett, Angelman and Williams.

Angelman Syndrome↗

PubMed2001

[Psycholinguistic aspects of fragile X chromosome syndrome].

Fragile X syndrome is the first cause of hereditary mental retardation. Numerous studies have approached the physical and behavioural phenotypes. This paper will review the main characteristics of speech and language in children with fragile X syndrome. Boys show a late language acquisition, differing comprehension and expression levels, good semantic and syntax acquisition, and speech problems: perseverance, unequal rythm and pragmatic difficulties: respect for conversation turns, speech maintenance, active avoidance of visual contact. A lesser degree of speech problems is described for FXS girls and the influence of social anxiety and hypersensitivity to social and sensorial stimuli on language production is discussed.

Child↗

PubMed2001

[Medical treatment of fragile X syndrome].

There is still no medication for fragile X syndrome (FXS) which acts directly on the genetic mechanisms or on the immediate result of the genetic defect. However, behavioral and cognitive manifestations can be approached from both the psychological/educational and pharmacological sides. Both approaches are not mutually exclusive but are complementary and synergic. There are currently potent drugs which can improve important symptoms of the FXS, behavioral disorders, hyperactivity, attention deficit, obsessive disorders and anxiety. Pharmacological treatment can be useful: CNS stimulants, clonidine, folic acid, serotonin reuptake inhibitors, and atypical antipsychotics. Pharmacological treatment of epilepsy is needed whenever epilepsy occurs. There is no specific antiepileptic for FXS, so action must be taken with the most efficient antiepileptic according to the crisis type, evaluating tolerance and possible effects on behavior. Insomnia is also of interest in children with FXS. In this case the use of melatonin can be of great help.

Adrenergic alpha-Agonists↗

PubMedDate not supplied

[Acute treatment of infantile headache].

INTRODUCTION: There are few studies in children, as compared with adults, of the different therapeutic options which may be useful to treat acute episodes of headache. There is a degree of anarchy in the use of analgesics for this common problem. DEVELOPMENT: Bearing in mind that headache is usually chronic, generally occurring as acute episodes, it is necessary to follow rules based on maximum efficacy and a minimum of problems due to side effects or habituation. We suggest guidelines for the treatment of episodes of headache, initially with drugs commonly used in childhood. The first choice is: ibuprofen, naproxene, paracetamol or aspirin. Any of these may be associated with metoclopramide to increase the effect and spectrum of treatment. Our second choice is nasal sumatryptan.

Child↗

PubMedDate not supplied

[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↗

PubMedDate not supplied

[Can the behavioural phenotype of fragile X syndrome be attributed to mental retardation and to attention deficit hyperactivity disorder?].

INTRODUCTION: Fragile X syndrome (FXS) reveals itself as dysmorphic stigmata, systemic manifestations, neurological symptoms and cognitive-behavioural manifestations. Mental retardation (MR) and attention deficit hyperactivity disorder (ADHD) nearly always appear as examples of this last case, but most patients also present a series of fairly common behavioural characteristics. The most characteristic types of conduct seen in FXS include: language problems, lack of attention, hyperactivity, anxiety, shyness, behavioural problems, stereotypical hand flapping, gaze aversion, obstinacy and aggressiveness. AIMS: The purpose of this work is to determine which behavioural aspects of the syndrome are linked to the genetic specificity and are not, therefore, determined by MR and ADHD. PATIENTS AND METHODS: Three groups of patients were compared: 30 children diagnosed as suffering from FXS, 30 children with MR caused by diverse aetiologies and 323 children diagnosed as suffering from ADHD. RESULTS: It was found that there were no significant differences between the IQ and the age of the FXS and MR groups. To determine the behavioural characteristics of the three groups the parents of the patients answered Achenbach's CBCL/4-18 survey. CONCLUSIONS: The results obtained show that certain types of conduct that are very typical of FXS are represented significantly more frequently in the FXS group than in the groups of patients with MR and ADHD. This behaviour includes: timidity, attachment to adults, shyness, repetition of certain actions over and over again, pronunciation and speech problems, fear of animals, situations or places, and concern for tidiness and cleanliness. These findings lend support to the idea that the behavioural phenotype of FXS is linked to the genetic disorder and is not, therefore, a consequence of MR or ADHD.

Adolescent↗