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Chromosome 22q11.2 Duplication Syndrome and Diagnostic Overshadowing: A Case Report
- Ashok Singh, Ayomipo Amiola, Phil Temple, Charlotte Maplanka, Ignatius Gunaratna, Regi Alexander
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- Journal:
- BJPsych Open / Volume 9 / Issue S1 / July 2023
- Published online by Cambridge University Press:
- 07 July 2023, pp. S118-S119
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Aims
Mental health comorbidity is higher in those with learning disability especially those who are within forensic services than the general population and diagnostic overshadowing is a particular problem. Hence, all behavioural or mental health related presentations are often attributed to the learning disability and vice versa without an adequate investigation of the causes of learning disability. This is a case report of a young male with mild LD with longstanding mental health and behavioural problem who was described as having a personality disorder in the community. Systematic diagnostic evaluation showed the presence of 22q11.2 Duplication Syndrome. While adding to the sparse literature on the behavioural and physical phenotype of the syndrome, it also allowed his mental health presentation to be re-formulated. This changed his treatment plan and outcome.
Methods28-year-old, single, Caucasian male with delayed developmental milestones who was referred to Children Mental Health Services for behavioural difficulties and ADHD-like features. In early adulthood, behavioural problems continued with aggression towards others and was under the care of a community mental health team although with lack of diagnostic clarity and poor compliance. Violence towards self and others led to several short hospital admissions, mainly because he tended to discharge himself against medical advice. The predominant diagnostic formulation was one of a young man with mild learning disability + psychosis related to substance misuse + personality disorder. Facing multiple charges of assault, the court, on medical advice, gave him a hospital order to a medium secure unit for people with learning disabilities where he went through a detailed and systematic diagnostic evaluation that revealed several new findings. Based on this, he went through the 10-point-treatment programme.
ResultsClinicians need to be aware of diagnostic overshadowing leading to misattribution and consequently poor treatment. In this case, the sensory impairments associated with 22q11.2 Duplication Syndrome affected his communication. His tunnel vision led him to bump into people in pubs and other public places giving impression of deliberate antisocial behaviour. The atypical autism, learning disability and co-existing mental illness further complicated the picture. Confirmation of the underlying genetic syndrome and its physical and behavioural phenotype led to a different diagnostic and psychological formulation from the earlier one which was based on a personality disorder. It also allowed more targeted treatment strategies and the patient could be discharged back to the community from a secure hospital setting.
Conclusion22q11.2 Duplication Syndrome is a rare genetic syndrome that can cause learning disability. Its physical and behavioural phenotypic features described in literature, were all present in this patient. In addition, this case report highlights three previously unreported findings: Cochlear Nerve Atresia, Tubular Vision, the Characteristic groove and skin fold on the back of the scalp and the presence of a schizoaffective mental illness.
A Pilot Project to Introduce the Compassionate Approach to Living Mindfully for Prevention of Disease (Calmpod) in Weight Management in a Forensic Intellectual Disability Unit
- Ayomipo Amiola, Phil Temple, Helen Dickerson, Peter Langdon, Petra Hanson, Thoral Thomas, Reena Tharian, Thomas Barber, Vinod Menon, Regi Alexander
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- Journal:
- BJPsych Open / Volume 8 / Issue S1 / June 2022
- Published online by Cambridge University Press:
- 20 June 2022, pp. S82-S83
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- Article
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- You have access Access
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Aims
About 28% of the UK population are obese and a further 36.2% are overweight. The prevalence of both in those with mental illness and/or intellectual disability (ID) is much higher. Several therapeutic approaches have been tried, with varying efficacy. Recently a three-session intervention which uses mindfulness techniques (The compassionate approach to living mindfully for prevention of disease- CALMPOD) was used in a tertiary obesity service in the West Midlands and shown significant benefits. Our aim was to assess the suitability of this intervention in mental illnesses and/or intellectual disability services.
MethodsThree pre-pilot focus group discussions involving multispecialty professionals and service users were held involving four psychiatrists, three service users, two psychologists, one physician, one endocrinologist, one bariatric surgeon and one pharmacist to identify key aspects of the CALMPOD programme for adaption to psychiatry and/or psychiatry of ID wards. Based on this, CALMPOD was modified by two psychologists with relevant experience. The modified CALMPOD was piloted in a medium secure forensic in-patient unit for people with ID. A post-pilot focus group discussion involving two psychiatrists, one occupational therapist and three service users was held after completion of the pilot to discuss lessons learned.
ResultsInvitations sent to 17 in-patients. The mean BMI was 34.76%, 76% were obese, 6% were over-weight and 18% in the normal range of weight. 3 patients attended the three-session programme (17%). All 3 were in the obese category, all had had individual weight management input – i.e. seen by dietician, weight management included in care plans. The post-pilot focus group discussions identified 6 key themes.
ConclusionEmerging themes from the pilot were (a) Patients and staff recognise that the programme was ‘necessary’ and ‘useful’, but the challenge is how to ‘start attending regularly’. Once in, participants ‘tended to stay on’. (b) A visible publicity campaign is needed to spread awareness of the programme and its ‘newness’. This would help with staff ‘buy in’ from all wards and departments. (c) The key message should be ‘living healthily’ and ‘feeling better’, not just weight loss. (d) Staff and/or patients’ family members participating in the programme would be more motivating. (e) The content of the programme needs further modifying with an emphasis on shared activities, calories counting and less emphasis on definitions. (f)Calorie counts and exercise trackers need ‘more fun and interactive elements.
Based on these recommendations a revised CALMPOD- ID programme, co-produced with service users, is now being introduced in the service.