Search results for "tic disorder"
showing 10 items of 284 documents
Hospitalisation and length of hospital stay following first-episode psychosis:Systematic review and meta-analysis of longitudinal studies
2019
AbstractBackgroundReducing hospitalisation and length of stay (LOS) in hospital following first episode psychosis (FEP) is important, yet reliable measures of these outcomes and their moderators are lacking. We conducted a systematic review and meta-analysis to investigate the proportion of FEP cases who were hospitalised after their first contact with services and the LOS in a hospital during follow-up.MethodsStudies were identified from a systematic search across major electronic databases from inception to October 2017. Random effects meta-analyses and meta-regression analyses were conducted.Results81 longitudinal studies encompassing data for 23 280 FEP patients with an average follow-u…
Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families
2005
We have screened 143 Sicilian (Italian) families with one autistic child to verify, by a linkage disequilibrium approach, the involvement of the 2q31.1 region in the cause of the disease in these families. Our study design includes the use of intrafamilial association to prevent a population stratification bias and ethnic homogeneity of the sample. The results of our analysis provided suggestive evidence of the occurrence of transmission disequilibrium between autism and the D2S2188 polymorphism in Sicilian TRIO families, a finding which provides further and independent support to the hypothesis of the existence of a susceptibility gene (or genes) for autism on chromosome 2q.
[Y chromosome in Turner syndrome].
2017
Turner syndrome (TS) is an inherited genetic disorder caused by numerical and/or structural chromosome X aberrations occurring at a frequency of 1:1200-1:2500 live-born girls. The most common karyotype is X chromosome monosomy (45,X) (approximately 50-60% of cases). Approximately 5-6% of patients may have abnormal Y chromosome or mosaicism characterized by the coexistence of 45,X cell line with cell line in which all or part of chromosome Y is present. In patients with TS who have all or fragmented genetic material from chromosome Y there is a substantial risk of cancerous lesions in these dysgenetic gonads. This paper stands for the review of the current knowledge on the genetic material o…
Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer.
2009
Defects in genetic and developmental processes are thought to contribute susceptibility to autism and schizophrenia. Presumably, owing to etiological complexity identifying susceptibility genes and abnormalities in the development has been difficult. However, the importance of genes within chromosomal 8p region for neuropsychiatric disorders and cancer is well established. There are 484 annotated genes located on 8p; many are most likely oncogenes and tumor-suppressor genes. Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, S…
A novel approach to CFTR mutation testing by pyrosequencing-based assay panels adapted to ethnicities.
2009
Abstract Background: Cystic fibrosis (CF) is a common autosomal recessive genetic disorder caused by a variety of sequence alterations in the CFTR gene [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)]. Because the relative prevalence of mutations strongly depends on the ethnic background, first-level testing of CF as defined by recent consensus recommendations ought to be adaptable to the ethnicity of patients. Methods: We therefore developed and implemented a diagnostic approach to first-level testing for CF based on published mutation frequencies and Pyrosequencing (PSQ) technology that we complemented with standard procedures of mutation…
Dictating the boundaries of ab/normality: a critical discourse analysis of the diagnostic criteria for attention deficit hyperactivity disorder and h…
2017
In this article we report the findings of a critical discourse analysis of the diagnostic criteria for attention deficit hyperactivity disorder (ADHD) and hyperkinetic disorder (HD) in two clinical manuals – Diagnostic and Statistical Manual of Mental Disorders, 5th edition and International Classification of Diseases, 10th edition. We examine the actions (behaviors) that are said to indicate the presence of ADHD/HD and analyze what the inclusion of these actions reveals about the relationship between ADHD/HD, cultural knowledge, and values. Our analysis reveals that both manuals use subjective, value-laden language to construct a mentally ill individual in opposition to an unseen, supposed…
Today Is My Day: Analysis of the Awareness Campaigns’ Impact on Functional Diversity in the Press, on Google, and on Twitter
2021
(1) Every day, people with functional diversity face different kinds of difficulties that pose a barrier to their social inclusion. These difficulties often go unnoticed by most citizens. Social networks are a powerful tool to sensitize the population. With this objective, different organizations such as associations, federations, foundations, and other institutions have promoted campaigns through the celebration of world days for different types of functional diversity. This research aims to monitor and analyze the impact of these social campaigns in Spain, including Asperger’s syndrome, rare diseases, Down syndrome, autism, hearing and visual impairment, cerebral palsy, dyslexia, ADHD, sp…
Perceived public stigma towards schizophrenia among healthcare students: The relationship with diagnostic labelling and contact with people with schi…
2021
Objectives This study aimed at investigating the relationship between perceived public stigma towards people with schizophrenia (PWS) and their family members in a large sample of medical and psychology students. We hypothesised that: a) schizophrenia labelling would be related to greater perceived public stigma; b) contact with PWS would be related with lower perceived stigma; c) perceived public stigma would be similar between medical and psychology students and would be higher among students attending the clinical stage compared to their pre-clinical colleagues. Methods Participants were 592 students attending either the pre-clinical or clinical stage of coursework in Medicine and Psycho…
Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients
2003
Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients
De novo GRIN2A variants associated with epilepsy and autism and literature review
2021
N-methyl-D-aspartate receptors (NMDAR) are di- or tri-heterotetrameric ligand-gated ion channels composed of two obligate glycine-binding GluN1 subunits and two glutamate-binding GluN2 or GluN3 subunits, encoded by GRIN1, GRIN2A–D, and GRIN3A–B receptor genes respectively. Each NMDA receptor subtype has different temporal and spatial expression patterns in the brain and varies in the cell types and subcellular localization resulting in different functions. They play a crucial role in mediating the excitatory neurotransmission, but are also involved in neuronal development and synaptic plasticity, essential for learning, memory, and high cognitive functions. Among genes coding NMDAR subunits…