Profiling the behavioural phenotype of genetic syndromes

Bissell, Stacey Louise (2015). Profiling the behavioural phenotype of genetic syndromes. University of Birmingham. M.Res.

[img] Bissell15MRes.pdf
PDF - Redacted Version
Restricted to Repository staff only until 1 July 2065.

Download (7MB) | Request a copy

Abstract

Background: Potocki-Lupski syndrome (PTLS) is caused by a duplication within 17p11.2. A deletion within this region is associated with Smith-Magenis syndrome (SMS). Autism spectrum disorder (ASD) is variably reported in the PTLS literature, and the extent to which these features of ASD are typical of those seen in idiopathic ASD is largely unknown.

Method: An online survey of informant-based questionnaires measuring mood, challenging behaviour, repetitive behaviour, activity, social functioning, and a screening tool for ASD, was completed by caregivers of adults and children with PTLS (n = 38; M age = 10.20, SD = 7.48). This PTLS group was compared to an age and adaptive functioning matched SMS group and idiopathic ASD group.

Results: Individuals with PTLS displayed less self-injury, less impulsivity, and more compulsive behaviours than the SMS group. However, attachment to particular people was high in both PTLS and SMS. On the ASD screening tool, the PTLS group showed relative strengths within the reciprocal social interaction domain and on non-verbal items, compared to individuals with idiopathic ASD.

Discussion: Behavioural similarities and differences were found between individuals with PTLS and SMS. However, there is evidence to suggest features of ASD in PTLS are qualitatively different than in idiopathic ASD.

Type of Work: Thesis (Masters by Research > M.Res.)
Award Type: Masters by Research > M.Res.
Supervisor(s):
Supervisor(s)EmailORCID
Oliver, ChristopherUNSPECIFIEDUNSPECIFIED
Stenfert Kroese , BizaUNSPECIFIEDUNSPECIFIED
Licence:
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
URI: http://etheses.bham.ac.uk/id/eprint/5862

Actions

Request a Correction Request a Correction
View Item View Item

Downloads

Downloads per month over past year