Psychosis and epilepsy in ring chromosome 20 syndrome
| Published date | 03 January 2017 |
| Date | 03 January 2017 |
| DOI | https://doi.org/10.1108/AMHID-11-2016-0037 |
| Pages | 8-16 |
| Author | Alice Shelton,Samuel Joseph Tromans,Sabyasachi Bhaumik,Reza Kiani |
| Subject Matter | Health & social care,Learning & intellectual disabilities |
Psychosis and epilepsy in ring
chromosome 20 syndrome
Alice Shelton, Samuel Joseph Tromans, Sabyasachi Bhaumik and Reza Kiani
Abstract
Purpose –The purpose of this paper is to discuss the challenges of assessment and management of
psychotic symptoms in a background of intellectual disability (ID) and treatment-resistant epilepsy caused by
a genetic syndrome.
Design/methodology/approach –Ring chromosome 20 [r(20)] syndrome is characterised by the triad of
severe refractory epilepsy, mild to severe ID and behavioural problems. This paper describes the presentation
of r(20) syndrome in a young woman with moderate ID and treatment-resistant epilepsy, who experiences
psychotic symptoms at times of improved seizure control.
Findings –There are several diagnostic possibilities for such a presentation, including psychotic symptoms
due to adverse effects of anti-epileptic medications and forced normalisation (alternating psychosis).
Originality/value –This paper advocates judicious use of antipsychotic medication to manage psychotic
symptoms, as well as involvement of both patient and close family members throughout all stages of care.
It is essential to strike a balance between control of epileptic seizures and psychiatric symptoms, providing an
optimal benefit to the patients’quality of life by meeting their complex needs through a multidisciplinary and
multi-agency team input.
Keywords Disability, Intellectual, Psychosis, Epilepsy, Genetic, Syndrome
Paper type Case study
Introduction
Ring chromosome 20 [r(20)] is a rare chromosomal disorder, first characterised as a genetic
syndrome in 1976. Over 100 cases have been described in the literature, the majority arising
from sporadic somatic mutations causing ring chromosome 20 mosaicism, evident on karyotype
analysis (Daber et al., 2012). The main characteristics of r(20) syndrome are summarised below.
Main characteristics of r(20) syndrome:
■Treatment-resistant epilepsy: seizures typically have fronto-temporal origins and a wide
variety of seizure types are seen, including complex partial seizures (CPS) and non-convulsive
status epilepticus (NCSE) (De Falco et al., 2006; Hosain et al., 2012).
■Mild to severe intellectual disability (ID) and challenging behaviours (e.g. aggression,
impulsivity) are also features of the disorder, though a minority of cases, particularly those with
mosaicism, may develop normally (Gahr et al., 2012; Daber et al., 2012).
■Minimal, non-specific dysmorphic features, which can contribute to a delay in establishing a
definitive diagnosis (Holopainen et al., 1994; Garcia et al., 2001; Alpman et al., 2005; Gomes
et al., 2002).
A limited number of c ase studies, mostly involving paedia tric cases, have de scribed
“psychotic-type”phenomena in r(20) (Table I). This case study discusses a patient with r(20)
syndrome who, following commencement of Perampanel, presented with psychiatric
symptoms not temporally related to the ictal episode but instead occurring when seizures
have ceased or reduced in frequency, typically following changes to the patient’s Anti-Epilep tic
Drug (AED) regime (Sachdev, 2007).
Received 26 November 2016
Revised 6 March 2017
Accepted 8 March 2017
The authors thank the patient and
her family who kindly gave
permission for the publication of
this case report.
Alice Shelton and
Samuel Joseph Tromans are
both Core Trainee Psychiatrists
at the Department of Intellectual
Disability, Leicestershire
Partnership Trust, Leicester, UK.
Sabyasachi Bhaumik is a
Consultant Psychiatrist and an
Honorary Professor at the
Department of Intellectual
Disability, University of
Leicester, Leicester, UK.
Reza Kiani is a Consultant at
the Adult Intellectual Disability
and Huntington’s Disease
Complex Care Services,
Leicester, UK and an Honorary
Senior Lecturer at the
University of Leicester,
Leicester, UK.
PAGE 8
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ADVANCESIN MENTAL HEALTH AND INTELLECTUAL DISABILITIES
j
VOL. 11 NO. 1 2017, pp.8-16, © Emerald Publishing Limited, ISSN 2044-1282 DOI 10.1108/AMHID-11-2016-0037
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