Toward a behavioural phenotype for 8p23 and 9q34 deletion syndromes

Grandfield, Tracey Anne (2013). Toward a behavioural phenotype for 8p23 and 9q34 deletion syndromes. University of Birmingham. Clin.Psy.D.

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This volume is made up of three papers. The first paper is a literature review assessing the scope of the research looking at five rare genetic deletions (18p, 1q37, 2p36, 8p23 and 9q34). Literature published between 1967 and 2011, pertinent to these genetic deletions, was screened and categorised. All of the papers that mentioned psychological or behavioural elements were reviewed, overall there were limited replicable or reliable measurement tools currently employed within the literature to assess behaviour.
The second paper is an empirical study which began to establish a behavioural phenotype for two rare genetic deletions (9q34 and 8p23) using established valid and reliable measures. People in both groups displayed high levels of challenging behaviour, a potential cause of stress to carers. People in the 9q34 deletion group were overall most similar to people with Autism Spectrum Disorder (ASD), whereas people in the 8p23 group were least like people with ASD, and most like people with Down Syndrome. There was an interesting finding in relation to people with 9q34 and ageing, discussed in detail within the paper.
The third paper is a Public Domain Briefing Paper, which summarises both papers in language which is accessible to the general public.

Type of Work: Thesis (Doctorates > Clin.Psy.D.)
Award Type: Doctorates > Clin.Psy.D.
College/Faculty: Colleges (2008 onwards) > College of Life & Environmental Sciences
School or Department: School of Psychology
Funders: None/not applicable
Subjects: B Philosophy. Psychology. Religion > BF Psychology


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