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Autism spectrum mixed neurodevelopmental disorder associated with 6q27 deletion and multiple copies within 20q11.23: a case study

Stephen Hopkins (Specialty Trainee, 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)
Jeremy Turk (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's College, University of London, London, UK)
Adeniyi Daramola (Core Trainee, 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)
Marinos Kyriakopoulos (Consultant Child & Adolescent Psychiatrist, 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 and Institute of Psychiatry, King's College, University of London, London, UK)

Advances in Mental Health and Intellectual Disabilities

ISSN: 2044-1282

Article publication date: 29 April 2014

102

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

Citation

Hopkins, S., Turk, J., Daramola, A. and Kyriakopoulos, M. (2014), "Autism spectrum mixed neurodevelopmental disorder associated with 6q27 deletion and multiple copies within 20q11.23: a case study", Advances in Mental Health and Intellectual Disabilities, Vol. 8 No. 3, pp. 210-215. https://doi.org/10.1108/AMHID-07-2013-0050

Publisher

:

Emerald Group Publishing Limited

Copyright © 2014, Emerald Group Publishing Limited

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