3 resultados para 17Q21.31 MICRODELETION SYNDROME
em Aston University Research Archive
Resumo:
In the present study, multilayer perceptron (MLP) neural networks were applied to help in the diagnosis of obstructive sleep apnoea syndrome (OSAS). Oxygen saturation (SaO2) recordings from nocturnal pulse oximetry were used for this purpose. We performed time and spectral analysis of these signals to extract 14 features related to OSAS. The performance of two different MLP classifiers was compared: maximum likelihood (ML) and Bayesian (BY) MLP networks. A total of 187 subjects suspected of suffering from OSAS took part in the study. Their SaO2 signals were divided into a training set with 74 recordings and a test set with 113 recordings. BY-MLP networks achieved the best performance on the test set with 85.58% accuracy (87.76% sensitivity and 82.39% specificity). These results were substantially better than those provided by ML-MLP networks, which were affected by overfitting and achieved an accuracy of 76.81% (86.42% sensitivity and 62.83% specificity). Our results suggest that the Bayesian framework is preferred to implement our MLP classifiers. The proposed BY-MLP networks could be used for early OSAS detection. They could contribute to overcome the difficulties of nocturnal polysomnography (PSG) and thus reduce the demand for these studies.
Resumo:
Autism is a pervasive developmental disorder and Asperger’s syndrome is part of the spectrum of autism disorders. This thesis aims to: • Review and investigate current theories concerning visual function in individuals with Asperger’s syndrome and high functioning autism spectrum disorder and to translate the findings into clinical practice by developing a specific protocol for the eye examination of individuals of this population. • Investigate whether those with Asperger’s syndrome are more likely to suffer from Meares-Irlen syndrome and/or dyslexia. • Assess the integrity of the M-cell pathway in Asperger’s syndrome using perimetric tests available in optometric practice to investigate and also to describe the nature of any defects. • Evaluate eye movement strategies in Asperger’s whilst viewing both text and images. Also to evaluate the most appropriate methodology for investigating eye movements; namely optical digital eye tracking and electrophysiology methodologies. Findings of the investigations include • Eye examinations for individuals with Asperger’s syndrome should contain the same testing methods as for the general population, with special consideration for clear communication. • There is a depression of M-pathway visual field sensitivity in 57% (8/14) of people with Asperger’s syndrome, supporting previous evidence for an M-cell deficit in some individuals. • There is a raised prevalence of dyslexia in Asperger’s syndrome (26% of a sample of 31) but not necessarily of Meares-Irlen syndrome. • Gaze strategies are abnormal in Asperger’s syndrome, for both reading and viewing of images. With increased saccadic movement and decreased viewing of faces in comparison to background detail.
Resumo:
Tourette syndrome is a neurodevelopmental disorder characterized by multiple tics and commonly associated with behavioral problems, especially obsessive-compulsive disorder and attention-deficit hyperactivity disorder (ADHD). The presence of specific personality traits has been documented in adult clinical populations with Tourette syndrome but has been underresearched in younger patients. We assessed the personality profiles of 17 male adolescents with Tourette syndrome and 51 age- and gender-matched healthy controls using the Minnesota Multiphasic Personality Inventory-Adolescent version, along with a standardized psychometric battery. All participants scored within the normal range across all Minnesota Multiphasic Personality Inventory-Adolescent version scales. Patients with Tourette syndrome scored significantly higher than healthy controls on the Obsessiveness Content Scale only (P = .046). Our findings indicate that younger male patients with Tourette syndrome do not report abnormal personality traits and have similar personality profiles to healthy peers, with the exception of obsessionality traits, which are likely to be related to the presence of comorbid obsessive compulsive symptoms rather than tics.