Autism spectrum mixed neurodevelopmental disorder associated with 6q27 deletion and multiple copies within 20q11.23: a case study
| Date | 29 April 2014 |
| Published date | 29 April 2014 |
| Pages | 210-215 |
| DOI | https://doi.org/10.1108/AMHID-07-2013-0050 |
| Author | Stephen Hopkins,Jeremy Turk,Adeniyi Daramola,Marinos Kyriakopoulos |
| Subject Matter | Health & social care,Learning & intellectual disabilities,Accounting education |
Autism spectrum mixed
neurodevelopmental disorder associated
with 6q27 deletion and multiple copies
within 20q11.23: a case study
Stephen Hopkins, Jeremy Turk, Adeniyi Daramola and Marinos Kyriakopoulos
Dr Stephen Hopkins is a Specialty
Trainee and Dr Adeniyi Daramola
is a Core Trainee, both are based
at National and Specialist Acorn
Lodge Inpatient Children’s Unit,
Child and Adolescent Mental
Health Services Clinical Academic
Group, South London and
Maudsley NHS Foundation Trust,
London, UK.
Professor Jeremy Turk is a
Consultant Child & Adolescent
Psychiatrist, based at Southwark
Child and Adolescent Mental
Health Neurodevelopmental
Service, Child and Adolescent
Mental Health Services Clinical
Academic Group, South London
and Maudsley NHS Foundation
Trust, London, UK and Institute of
Psychiatry, King’sCollege,
University of London,
London, UK.
Dr Marinos Kyriakopoulos is a
Consultant Child & Adolescent
Psychiatrist, based at National
and Specialist Acorn Lodge
Inpatient Children’sUnit, Child and
Adolescent Mental Health
Services Clinical Academic Group,
South London and Maudsley NHS
Foundation Trust,London, UK and
Institute of Psychiatry, King’s
College, University of London,
London, UK.
Abstract
Purpose – Copy Number Variations (CNVs) are not infrequently observed in aberrant neurodevelopment.
CNVs can alter gene expression and have been linked to a wide range of neuropsychiatric disorders.
The purpose of this case study is to report the association of CNVs with a mixed neurodevelopmental disorder.
Design/methodology/approach – Array-Comparative Genomic Hybridisation analysis was carried out in
a case of an eight-year-old boy presenting with a mixed neurodevelopmental disorder including autism
spectrum disorder,intellectual disability, tic disorder,anxiety and severe aggression. The child’s parents also
underwent the same investigation.
Findings – A 6q27 deletion and multiple copies within 20q11.23 were identified. The boy’s father shared
the 6q27 deletion and his mother also had multiple copies within 20q11.23.
Originality/value – This is the first report linking the combination of 6p27 and 20q11 CNVs with a mixed
neurodevelopmental presentation. Identifying CNVs that may underlie aberrant neurodevelopment is likely
to assist in unravelling the aetiology of neurodevelopmental and psychiatric disorders and lead to more
effective strategies for their characterisation and management.
Keywords Intellectual disability, Autism spectrum, CNV, Neurodevelopmental disorder, Tics
Paper type Case study
Introduction
Neurodevelopmental disorders have a strong genetic basis and genetic factors are a very
common cause of autism spectrum disorders (ASD). It is now known that defined mutations,
genetic syndromes and de novo Copy Number Variation (CNV) together account for between
10 and 20 per cent of ASD cases (Abrahams and Geschwind, 2008). Inherited CNVs have also
been associated with ASD with up to 40 per cent of these being inherited from a parent who
does not seem to have the diagnosis (Cook and Scherer, 2008).
An increasing number of genetic conditions are being identified as having strong associations with
autism spectrum conditions (Turk, 2007), with fragile X syndrome being the most common
identifiable cause of ASD (Turk, 2011). Toxins, as in fetal alcohol spectrum disorders are also being
implicated increasingly as a contributor to autism spectrum conditions (Mukherjee et al., 2011).
However, most instances of autism do not have an identifiable discrete aetiology.
Developments in genetic testing using techniques such as Array-Comparative Genomic
Hybridisation (Array-CGH) have increased the detection of CNVs. CNVs are observed in as
many as 10 per cent of cases of ASD (Marshall et al., 2008; Miller et al., 2010; Scherer and
PAGE 210
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ADVANCES IN MENTAL HEALTH AND INTELLECTUAL DISABILITIES
j
VOL. 8 NO. 3 2014, pp. 210-215, CEmeraldGroup Publishing Limited, ISSN 2044-1282 DOI 10.1108/AMHID-07-2013-0050
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