Further refinement of the nature of the communication impairment in Cornelia de Lange syndrome
| Pages | 15-25 |
| Date | 15 July 2011 |
| Published date | 15 July 2011 |
| DOI | https://doi.org/10.1108/20441281111165562 |
| Author | Jill Hoddell,Jo Moss,Kate Woodcock,Chris Oliver |
| Subject Matter | Health & social care,Learning & intellectual disabilities |
Further refinement of the nature of the
communication impairment in Cornelia
de Lange syndrome
Jill Hoddell, Jo Moss, Kate Woodcock and Chris Oliver
Abstract
Purpose – Research into the communication skills of individuals with Cornelia de Lange syndrome
(CdLS) is extremely limited. This paper aims to evaluate the nature of these skills and impairments in
CdLS using a detailed informant assessment of pre-verbal communication skills.
Design/methodology/approach – The study used the Pre-verbal Communication Schedule to evaluate
communication skills in individuals with CdLS (n¼14), aged five to14 years. The group was compared
with a contrast group of individuals with Cri du Chat syndrome (CdCS; n¼14) who were matched for
age and intellectual ability.
Findings – A significant difference was identified in understanding non-vocal communication
(p,0.005), with the CdLS group showing a greater deficit. These findings indicate the presence
of a syndrome-specific deficit in understanding non-verbal communication in individuals with CdLS
and suggest that there may be a dissociation between the processing of verbal and non-verbal
communication.
Originality/value – The findings indicate that, in many ways, these two syndrome groups are not
dissimilar in terms of their communication skills. However, individuals with CdLS show a
syndrome-specific deficit in understanding non-vocal communication relative to the CdCS group.
Keywords Communication, Cornelia de Lange syndrome, Cri du Chat syndrome, Behaviour,
Phenotypes, Genetic syndromes, Speech, Chromosomes
Paper type Research paper
Introduction
Recent advances in genetics have been instrumental in enhancing research interest in
behavioural phenotypes. To date, research into specific genetic syndromes has tended to
focus on describing and delineating the presence and nature of psychological disorder and
difference in the populations under study. This has given rise to increased awareness of
associations between genetic disorders and a range of conditions including challenging
behaviour, autism spectrum disorders (ASD) and attention deficit disorders (Arron et al.,
2011; Oliver et al., 2011). These developments in the field of behavioural phenotypes have
contributed to the understanding of the aetiology and development of a range of conditions
and are revealing gene-brain-behaviour-environment relationships that are of interest to
mainstream developmental psychology, particularly with regard to different and delayed
developmental trajectories (Thomas and Karmiloff-Smith, 2005; Cornish et al., 2007).
The focus on describing psychological disorder of clinical importance within genetic
syndromes has understandably overshadowed the study of other aspects of development in
this population. In particular, little research in the field of behavioural phenotypes has focused
specifically on the nature and development of language and communication skills.
As evidenced in the wider intellectual disability population, understanding the nature and
development of communication skills in genetic syndromes may have important implications
for our understanding of a range of behavioural difficulties observed within this population,
DOI 10.1108/20441281111165562 VOL. 5 NO. 4 2011, pp. 15-25, QEmerald Group Publishing Limited, ISSN 2044-1282
j
ADVANCES IN MENTALHEALTH AND INTELLECTUAL DISABILITIES
j
PAGE 15
Jill Hoddell is based at
Cerebra Centre for
Neurodevelopmental
Disorders, School
of Psychology, University
of Birmingham,
Birmingham, UK.
Jo Moss is based at
Cerebra Centre for
Neurodevelopmental
Disorders, School of
Psychology, University
of Birmingham,
Birmingham, UK and
Department of Psychology,
Institute of Psychiatry,
King’s College London,
London, UK.
Kate Woodcock and
Chris Oliver are based at
Cerebra Centre for
Neurodevelopmental
Disorders, School
of Psychology, University
of Birmingham,
Birmingham, UK.
To continue reading
Request your trial