Genetic screening is being widely applied to trace the origin of global developmental delay or intellectual disability. The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with severe intellectual disability, limited walking ability, febrile convulsions, absence of speech, and minor brain malformations. MEF2C was suggested as a gene mainly responsible for the ...

The purpose of this article is to provide an overview of the behavioral phenotype of FMR1 mutations, including fragile X syndrome (FXS) in order to better understand the clinical involvement of individuals affected by mutations in this gene. FXS is associated with a wide range of intellectual and behavioral problems, some relatively mild and others quite severe. FXS is the most common cause of ...

In an attempt to define possible subgroups of Alzheimer's disease, 21 patients satisfying current clinical diagnostic criteria for this disorder were divided on the basis of progression rates of symptoms. Thirteen patients with relatively rapid intellectual deterioration did not differ from eight patients showing slow progression with respect to global intellectual performance, sex, or age at o...

PURPOSE To correlate clinical outcome with the size and location of clefts in patients with schizencephaly. PATIENTS AND METHODS MR scans and clinical records of 20 patients with schizencephaly were retrospectively reviewed. Seven patients had bilateral clefts (10 open lip clefts, 4 closed lip clefts), eight patients had right-sided unilateral clefts (5 open lip clefts, 3 closed lip clefts), ...

this article engages with debates about the conceptualisation and practical challenges of patient and public involvement (ppi) in health and social care services. policy in this area in england has shifted numerous times but increasingly a consumerist discourse seems to override more democratic ideas concerning the relationship between citizens and public services. recent policy change in engla...

introduction: the wilson disease is an autosomal recessive disease in which the liver, central nervous system, eyes, blood and other parts of the body involved. timely diagnosis and appropriate treatment of the disease requires awareness of the clinical presentations of this disease in children.methods: this case series study included 62 patients with wilson disease who admitted to children&apo...

Social, economic, political, digital transformations in society lead to changes Russian social and cultural space. Leisure becomes a significant part of the modern process. The problem study leisure activities (CLA) remains open. are undergoing changes. article provides an empirical analysis comprehend current stage development process Russia. authors give examples dependence forms library prac...

OBJECTIVES Sleep EEG spindles are linked to efficient cortical-subcortical connectivity and intellectual abilities. The aim of the present study was to investigate the relationship of spindle activity to psychosocial stress response and coping strategies in healthy kindergarten children. METHODS In a cross-sectional study of 41 5-year old kindergarten children we examined stress-induced hypot...