Biomedical subjects

V L Ruggieri

Publications and source records attributed to V L Ruggieri.

8 recordsLinked to original sources

PubMed2006

[Atentional processes and attention deficit disorders in autism].

INTRODUCTION: Autism is recognised as being a behavioural syndrome characterised by impaired language development, restricted interests and compromised socialisation. It is accepted that persons with autism react in an inappropriate way to socially relevant information and that they are unable to benefit from important stimuli from their surroundings. A number of disorders affecting different attention processes (with the ensuing difficulty involved in selecting and hierarchising stimuli) have been put forward as probable hypotheses to account for the genesis of these problems. DEVELOPMENT: In this work we analyse some of the attentional processes reported as being due to deficits in autism (disorders affecting alertness, orientation, gaze, sustained attention and changes in focus of attention). We also examine the high rate of comorbidity of attention deficit disorders with or without hyperactivity (ADHD) with pervasive developmental disorders (PDD) and the importance of identifying them. CONCLUSIONS: Although many disorders affecting the components of attention have been reported, the findings and their importance are controversial and it is likely that their association to other cognitive disorders plays an important role in the development of autism. With regard to the association between ADHD and PDD, it is an acknowledged fact that up to 70% of the persons with PDD meet ADHD criteria; whether we are before a situation of comorbidity, it is part of the spectrum or forms a specific subtype is an interesting issue for debate. Nevertheless, what is essential is for this association to be acknowledged to allow therapy to be undertaken using the correct approach.

Attention↗

PubMed1998

[Benign paroxysmal tonic upward gaze syndrome].

INTRODUCTION: The benign paroxysmal tonic upward gaze syndrome (BPTUG) is a rare condition. We present two new cases analyzing the clinical, genetic, evolution and therapeutic aspects. CLINICAL CASES: Case 1. A 2 year-old girl with no family history of similar disorders started, at the age of 6 months, to have episodes of upward deviation of gaze with hyperextension of the neck and vertical nystagmus of fixation, increased by nervousness and episodes of fever. Some episodes caused the patient to fall in spite of there being no alteration of consciousness. Case 2. From the age of five months a 1 year-old girl with no significant personal or family history had episodes of ocular deviation upwards with forward inclination of the head to correct her gaze and slow motor development from the age of five months. RESULTS: Complementary studies were normal in both patients. As in the cases described in the literature, our cases had no family history and were not sensitive to Dopa. To date 11 children have been described in the literature and few familial cases seen with dominant autosomal inheritance. CONCLUSIONS: Our patients had a non-epileptic paroxystic phenomenon known as BPTUG syndrome. This condition starts during the first year of life, has a benign course and the episodes have ceased by the age of four years. We believe it is important to consider the differential diagnosis with epileptic phenomena, evaluate the response to L-Dopa and bear in mind that this syndrome may be the clinical expression of several different conditions. Although the course is usually benign, it may later be associated with other signs of neurological problems which should be taken into account.

Antiparkinson Agents↗

PubMed1996

[An approach to the pharmacological treatment of autism].

In the past decade, notable advances have been made with regard to understanding the clinical, biological and epidermological aspects of the basic disorders of development (TPD), particularly autism. Nevertheless, our knowledge of the neurobiological basis is still limited. This has impeded the development of drugs which correct the defect and cure the illness. Although there is no perfect drug, in recent years clinico-pharmacological research has made it possible to use drugs which have been very helpful in correcting the symptoms associated with these disorders. These drugs have permitted a better therapeutic approach and improved family and social integration of these children (in the family and in society). We will proceed to analyze some of the drugs shown to be useful for treatment of children with TPD.

Adrenergic alpha-Antagonists↗

PubMedDate not supplied

[Hereditary ataxias].

INTRODUCTION AND OBJECTIVE: The hereditary ataxias form a large, complex group of entities whose recognition is essential for correct genetic assessment, satisfactory clinical control and in some cases a suitable therapeutic approach. The clinico-semiological variety and advances in molecular biology have made the hereditary ataxias one of the most interesting subjects in neurology. In this paper our objective is to classify the clinical approach of the hereditary ataxias and define the different conditions known so as to orientate complementary investigations and thus obtain the correct diagnosis. DEVELOPMENT AND CONCLUSION: We analyze and classify them, according to their mode of presentation, as congenital (in general nonprogressive) and progressive. Both groups are then divided according to how they are inherited and we also include the specific molecular findings.

Diagnosis, Differential↗

PubMedDate not supplied

[Neuromuscular hereditary channelopathies: non-dystrophic myotonias, paramyotonias and periodic paralysis].

INTRODUCTION: The ionic channels are complex glycoprotein structures, which cross the lipidic cellular membrane and allow the passage of electrically charged ions from one side of it to the other, thanks to the electrochemical gradient. A channelopathy is a disorder due to anomalous function of the ionic channels. DEVELOPMENT: In this study we analyze particularly the hereditary channelopathies with neuromuscular involvement non dystrophic myotonia, paramyotonias and periodic paralysis, and classify the clinical, physiopathological, molecular, genetic and therapeutic aspects. As far as possible we have divided the different conditions according to the channel involved, due to mutations which affect the sodium, calcium, chloride and potassium channels. We have also included neuromyotonic phenomena which are probably caused by channelopathies. CONCLUSIONS: Probably it will not be long before many of the conditions considered in this article have a better physiopathological explanation, more specific diagnostic procedures and a more rational approach to treatment.

DNA Mutational Analysis↗

PubMedDate not supplied

[Behavioural phenotypes. Biologically determined neuropsychological patterns].

INTRODUCTION AND AIMS: A behavioural phenotype (BP) is a characteristic pattern of motor, cognitive, linguistic and social abnormalities that are associated in a way that is compatible with a biological disorder, while environmental factors are also known to be important in their development. Taking these concepts into account, we have analyzed several entities with acknowledged BP, which were selected according to the frequency of presentation, the compatibility of the association between BP and the underlying disease, and the importance of recognizing the entity, so as to enable suitable therapeutic guidance and proper genetic counselling. DEVELOPMENT: They were organized by dividing them into three groups according to the biological characteristics recognized to date: a) BP associated to genetic diseases with an identified biological basis (syndromes such as Lesch Nyhan, Rett, fragile X, tuberous sclerosis complex, Noonan, Sotos, Aicardi, Angelman, Prader Willi, Williams, Down, Smith Magenis, Di George, Pallister Killian and Turner, among others; b) BP associated to a genetic disease with an unidentified biological basis (Cornelia de Lange syndrome); and, c) BP with an as yet unidentified biological basis associated to diverse causations (autism). In all the entities phenotypic, clinical, cognitive, behavioural and biological aspects were analyzed from the way they are inherited to the molecular bases.

Abnormalities, Multiple↗

PubMedDate not supplied

[Epilepsy beginning in the neonatal period and early infancy].

INTRODUCTION: In this study we analyse several epileptic syndromes that begin in the neonatal period or early infancy, up to two years of age, and we also define their clinical, neurophysiological and progressive aspects as well as their differential diagnoses. Both neonatal and febrile convulsions are excluded. DEVELOPMENT: The different syndromes are classified according to the predominant type of seizures, which is the one that identifies them, although it is not the only type of seizure presented. In line with this reasoning, the syndromes were divided into four main groups: 1. Epileptic spasms: infantile spasms (West's syndrome), periodic spasms as described by Gobbi and bouts of epileptic seizures without hypsarrhythmia. 2. Tonic seizures: Lennox-Gastaut syndrome. 3. Myoclonias: benign myoclonic epilepsy in infancy, Dravet's severe myoclonic epilepsy, myoclonic-astatic epilepsy and a myoclonic state in non-progressive encephalopathies; and 4. Partial seizures: non-idiopathic location-related epilepsies, malign epilepsy with migratory partial seizures and benign infantile familial and non-familial seizures. CONCLUSIONS: Thus, it will be possible to establish a plan of studies, differential diagnoses and a rational therapeutic approach depending on the clinical manifestations, while at the same even enabling us to distinguish between the idiopathic, cryptogenic and symptomatic forms.

Age of Onset↗

PubMedDate not supplied

[Clinical and electroencephalographic aspects of late infantile neuronal ceroid lipofuscinosis].

AIMS: In this paper we describe the clinical characteristics, and particularly the epileptic seizures and electroencephalographic findings, in 15 patients with a pathology diagnosis of late infantile neuronal ceroid lipofuscinosis (NCL). PATIENTS AND METHODS: Nine female and six male patients were studied and their clinical records covering the period February 1990 to June 2003 were analysed. Neuroimaging, neurometabolic studies, ERG, PE and repeated EEG were carried out in all cases. RESULTS: The mean age on onset of the disease was 3 years (range: 1-5 years). The initial symptom was epilepsy in all cases. Massive myoclonias and myoclonic-atonic seizures were the most frequent kinds of attacks. Focal myoclonias were observed in six patients. Other types of epileptic seizures observed included generalised tonic-clonic, absence, motor focal and complex focal. The epileptic seizures were resistant to therapy. Progressive neurological and visual impairment, pyramidal and cerebellar signs, as well as mental retardation were present in all cases. Intercritical EEG recordings showed diffuse paroxysms with spike and polyspike waves, multifocal spikes and, less often, focal spikes that were predominant in posterior regions. Photostimulation showed high amplitude (300-450) occipital spikes during the application of light stimulation between 1 and 8 Hz. ERG, VEP and SSEP results were pathological. Images showed signs of brain and cerebellar atrophy. Seven of the patients died between 8.5 and 11 years of age. CONCLUSIONS: Late infantile NCL must be considered in the case of a child aged between 1 and 5 years who presents seizures that are predominantly generalised myoclonias and myoclonic-atonic, in association with progressive neurological deterioration including pyramidal, cerebellar and visual signs and an EEG trace showing occipital paroxysms triggered by low frequency photostimulation.

Child↗