Search results1 – 3 of 3
Sturge-Weber-Krabe syndrome (SWS), also known as encephalotrigeminalangiomatosis and named the forthfacomatosis, recall the names of the authors who first describedit in…
Sturge-Weber-Krabe syndrome (SWS), also known as encephalotrigeminalangiomatosis and named the forthfacomatosis, recall the names of the authors who first describedit in its basic clinical, radiological andanatomopathological aspects. We report here 14 cases of Sturge-Weber disease. In 6 of these, despite what had been previously described in literature, an extension of the angioma has been noted in other parts of the body. The study of these subjects stresses not only the need for a pharmacological/neuropsychomotor intervention, but alsothe need of a psychotherapeutic approach, for the emotional and affective implications thatcould derive from this syndrome. The reported cases are similar to those presented in literature for their main features. In particular, two elements are interesting: i) the exceptional diffusion of the red nevousto the whole hemicorpo; and ii) the evaluation of the way the patients live the disease, which has not beenpreviously considered in literature. We can conclude that SWS is a multisystem disorder that requires the neurologist to be aware of the possible endocrine, psychiatric, ophthalmological, and other medical issues that can arise and impact on the neurological status of the patients.
The purpose of this paper is to review the application of a syndromic approach to seizure disorders in intellectual disabilities, in the light of recent advances in…
The purpose of this paper is to review the application of a syndromic approach to seizure disorders in intellectual disabilities, in the light of recent advances in research and the International League Against Epilepsy (ILAE) Report on classification in 2010.
The ILAE Report is reviewed with an emphasis on neurodevelopmental seizure disorders, which may present to clinicians working in the field of adult intellectual disability. The advantages of applying a syndromic approach and the difficulties often encountered are also discussed.
Adopting a syndromic approach to seizure disorders in adults with intellectual disability should lead to rational prescribing, appropriate packages of care, and an improvement in the quality of research in this field.
This paper highlights the importance of identifying epilepsy syndromes in adults with intellectual disability, in the light of recent international reports on classification. It is of value to clinicians (particularly psychiatrists and learning disability nurses) practising in the field of epilepsy and intellectual disability.
This paper seeks to discuss the complexity of the relationship between genotype and phenotype and highlight the importance of a greater understanding of behavioural…
This paper seeks to discuss the complexity of the relationship between genotype and phenotype and highlight the importance of a greater understanding of behavioural phenotypes in genetic syndromes. The aim is to explore the developmental trajectory of the behavioural phenotypes as individuals emerge from childhood into adulthood and beyond.
Information was gathered from a search of the relevant literature over the past 20 years using Medline and PsycINFO databases in May 2010 as well as information published in textbooks on this matter.
The outcomes were considered under five areas of functioning: cognition, communication, behaviour, social functioning and propensity to psychiatric illnesses. The research thus far suggests that outcomes in behavioural phenotypes in adults are extremely variable. Individual predictions are difficult to make. However, some trends do emerge.
Findings of particular interest are the rates of attention deficit hyperactivity disorder and autism spectrum conditions and how these change over the developmental trajectory. The paper highlights the need for further research in this area and discusses the need to view behavioural phenotypes as a continuum across the lifespan.