Title:
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The behavioral phenotype in Shwachman-diamond syndrome : An exploration of learning, behavioral and psychological functioning
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Research was carried out to consider the cognitive, learning and
behavioural impact of Shwachman-Oiamond Syndrome (SOS) on children and
adolescents. Although a physical condition, it is increasingly suspected to
produce significant psychological and behavioural effects. Anecdotal evidence
suggested that children with SOS had similar cognitive, behavioural and social
presentations that differed from the normal population, suggesting
developmental patterns that may result from SOS. Research to confirm the
presence of such patterns would provide information to support the
development of appropriate psychological and educational strategies for
children and their families. The findings may also initiate the establishment of
an indicatory tool towards a formal diagnosis.
Standardised tests considering cognitive and academic ability were
administered to 22 children diagnosed with SOS, aged 6 to 16. The results
were compared with normative data using one-sample t-tests. Further
standardised questionnaires assessed quality of life, self-concept and
resiliency, and the results were compared to normative data and to a quasicontrol
group diagnosed with cystic fibrosis (CF), to control for having a
chronic illness. Additionally, all the children's parents completed
questionnaires on their child's quality of life, behaviour and executive function,
and the results from both groups were compared with each other and to
normative data.
The results for SOS children showed a significant difference compared
to the quasi-control and normative data across all the target dimensions, apart
from variables of mood and resiliency. Quality of life and self-concept scores were significantly lower in the SOS group than in the normal population or the
CF group. Social skills and integration also appeared negatively affected in
SOS.
Thus, children with SOS appeared to follow similar cognitive and
behavioural trends that differed significantly from the normal population,
providing potentially recognisable patterns to aid diagnosis. The thesis also
considers some limitations of the study and suggests further potential
research
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