Genetic Conditions
http://hdl.handle.net/20.500.12904/11717
2024-03-28T15:53:01Z
2024-03-28T15:53:01Z
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications
Cutajar, Peter
http://hdl.handle.net/20.500.12904/11718
2023-11-13T13:01:11Z
2018-01-01T00:00:00Z
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications
Cutajar, Peter
Recurrent deletions and duplications at the 2q13 locus have been associated with developmental delay (DD) and dysmorphisms. We aimed to undertake detailed clinical characterization of individuals with 2q13 copy number variations (CNVs), with a focus on behavioral and psychiatric phenotypes. Participants were recruited via the Unique chromosomal disorder support group, U.K. National Health Service Regional Genetics Centres, and the DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) database. A review of published 2q13 patient case reports was undertaken to enable combined phenotypic analysis. We present a new case series of 2q13 CNV carriers (21 deletion, 4 duplication) and the largest ever combined analysis with data from published studies, making a total of 54 deletion and 23 duplication carriers. DD/intellectual disabilities was identified in the majority of carriers (79% deletion, 70% duplication), although in the new cases 52% had an IQ in the borderline or normal range. Despite the median age of the new cases being only 9 years, 64% had a clinical psychiatric diagnosis. Combined analysis found attention deficit hyperactivity disorder (ADHD) to be the most frequent diagnosis (48% deletion, 60% duplication), followed by autism spectrum disorders (33% deletion, 17% duplication). Aggressive (33%) and self-injurious behaviors (33%) were also identified in the new cases. CNVs at 2q13 are typically associated with DD with mildly impaired intelligence, and a high rate of childhood psychiatric diagnoses-particularly ADHD. We have further characterized the clinical phenotype related to imbalances of the 2q13 region and identified it as a region of interest for the neurobiological investigation of ADHD.
© 2018 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc.
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
2018-01-01T00:00:00Z
Patients with sex chromatin abnormality in two state hospitals
Casey, M. D.
Segall, L. J.
Blank, C. E.
http://hdl.handle.net/20.500.12904/11720
2023-11-13T13:01:11Z
1968-01-01T00:00:00Z
Patients with sex chromatin abnormality in two state hospitals
Casey, M. D.; Segall, L. J.; Blank, C. E.
The incidence of sex‐chromatin subnormality in two special hospitals for subnormal patients requiring special security on account of violent and aggressive behaviour was found to be significantly higher than the incidence in other institutionalized populations of the mentally subnormal. It is suggested that two factors account for this raised incidence: the higher mean intelligence level in the special hospital population, and the high proportion of sex‐chromatin‐positive males in these hospitals with an additional Y chromosome. We thank Dr J. N. McDougall, Medical Superintendent of Moss Side Hospital, for permission to study the patients in his care and the Medical and Nursing Staffs of Rampton and Moss Side Hospitals for their full co‐operation. This investigation was supported in part by a grant from the National Spastics Society. Copyright © 1968, Wiley Blackwell. All rights reserved
1968-01-01T00:00:00Z
Psychological aspects of a sex chromatin abnormality
McKerracher, David W.
http://hdl.handle.net/20.500.12904/11721
2023-11-13T13:01:11Z
1971-01-01T00:00:00Z
Psychological aspects of a sex chromatin abnormality
McKerracher, David W.
A sample of 147 special security patients with no demonstrated chromosome abnormality, and with no evidence of brain damage or psychosis, was compared with two groups of genetically abnormal patients, evincing an XXY or XYY chromosome pattern. The XXY patients were significantly lower in verbal and performance ability than were the patients in the other two groups. They were also more defensive in answering a personality questionnaire, but this was shown to be partly a function of their lower intelligence. Both of the genetically abnormal groups contained a higher proportion of subjects with significantly depressed verbal abilities than in the control group, though the trend was similar for all three groups. Approximately two-thirds of both genetically abnormal groups committed some form of sex crime. It was suggested that this might indicate a specific genetic-based lag in mental aspects of sexual maturation in addition to the already demonstrated general social instability. (PsycINFO Database Record (c) 2016 APA, all rights reserved)
1971-01-01T00:00:00Z
Medical device design for adolescent adherence and developmental goals: A case study of a cystic fibrosis physiotherapy device
Martin, Jennifer L.
http://hdl.handle.net/20.500.12904/11722
2023-11-13T13:01:11Z
2014-01-01T00:00:00Z
Medical device design for adolescent adherence and developmental goals: A case study of a cystic fibrosis physiotherapy device
Martin, Jennifer L.
PURPOSE: This study investigates the psychosocial aspects of adolescent medical device use and the impact on adolescent adherence and goals for the transitional years between child and adulthood.; PATIENTS AND METHODS: Interviews were carried out with 20 adolescents with cystic fibrosis, investigating adolescent medical device use and experiences in relation to their personal and social lives and development through the adolescent years. The qualitative dataset was thematically examined using a content analysis method.; RESULTS: The results show that adolescent users of medical technologies want their independence and capabilities to be respected. Adolescent adherence to medical device use was associated with short- and long-term motivations, where older adolescents were able to comprehend the longer-term benefits of use against short-term inconvenience more acutely than younger adolescents. It was suggested that medical devices could provide a tool for communication with families and clinicians and could support adolescents as they take responsibility for managing their condition. Themes of "fitting into teenage life" and "use in the community" were associated with adolescents' needs to form their own identity and have autonomy.; CONCLUSION: This study shows that adolescent needs regarding medical device use are complex. It provides evidence to suggest that devices designed inclusively for adolescents may lead to improved adherence and also facilitate transition through the adolescent years and achievement of adolescent goals.
© 2014 Lang et al. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License. The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. Permissions beyond the scope of the License are administered by Dove Medical Press Limited. Information on how to request permission may be found at: http://www.dovepress.com/permissions.php
2014-01-01T00:00:00Z