Diagnostic Overshadowing & Implications on Treatment & Rehabilitation of People with a Genetic Syndrome and Co‑existing Psychiatric Conditions: A Case Report of 22q11.2 Duplication Syndrome

Mental health comorbidity is higher in those with learning disability; in the absence of a full and robust diagnostic clarification, diagnostic overshadowing is a particular problem. Central to this concept is attribution of symptoms to an existing diagnosis rather than a potential co-morbid condition. Clinicians need to be aware of the dire consequences of diagnostic overshadowing including misattribution, underdiagnosis, misdiagnosis, delayed and or poor treatment, stigmatization and consequently a reduction in the quality of life. This is a case report of a young male with mild LD with longstanding mental health and behavioural problems who was described as having a personality disorder in the community. 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. This revealed several new findings including the diagnosis of a 22q11.2 Duplication Syndrome. In this case, physical impairments associated with 22q11.2 Duplication Syndrome affected patient’s presentation and were wrongly formulated as representative of a Personality Disorder. The atypical autism, learning disability and co-existing mental illness further complicated the picture. Positively, the genetic test and the identification of a syndrome provided valuable clinical insight and significantly altered the nature, course, and pathway of treatment, including ultimately the patient’s quality of life. This resulted in a successful discharge back to the community from a secure hospital setting. In addition, this case report highlights previously unreported findings: Cochlear Nerve Atresia, Tubular Vision, a characteristic groove, and skin fold on the back of the scalp and the presence of a schizoaffective mental illness.


Contributors

Singh, A., Amiola, A., Temple, P., Maplanka, C., Gunaratna, I., Chester, C.

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Supporting Carers Within a Forensic Intellectual Disability Community Team: The Development of a Carers Strategy

The needs of carers of those discharged from inpatient forensic intellectual disability (ID) services are under researched. The role of the carer changes significantly during the transition from the person being cared for by the inpatient service, to a community setting. The carer may feel responsible for managing mental, physical and forensic needs. Therefore, carers of those with ID and forensic needs in the community require specialist support and understanding. Following the establishment of a new community ID team in Norfolk, the lack of guidelines for supporting this unique group of carers was noted. As such, a carers strategy with multiple components was initiated. This paper describes the implementation of a carers strategy to provide specific support to this cohort. It highlights the lack of research on this topic and the importance of working with external stakeholders.


Contributors

Freeman, C., Perez-Olivas, G., Patteril, E., & Chester, V.

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Psychiatry of Intellectual Disability in the Elderly: A Baseline Audit

Intellectual disabilities (ID) are lifelong conditions characterized by deficits in general intellectual functioning and adaptive skills with onset in the developmental period. Globally, the prevalence of ID varies by age and the prevalence in older adults is considerably lower than that in the general population indicating that people with ID (PWID) may have shorter life spans. Despite the substantially increased mean life expectancy compared to the past, PWID continue to experience poor care often dying twenty years earlier than others. Higher rates of mental illnesses, increased risk of physical health morbidity and mortality and advancing age worsen their health disadvantage. There is very limited evidence that the treatment needs of the elderly patient group with ID and a mental illness have either been described or addressed. We aimed to conduct a baseline audit and service evaluation describing the sociodemographic, clinical and treatment variables of elderly patients (aged over 65 years) attending a specialist out-patient psychiatry clinic for PWID, compliance with the suggested audit standards for this group, and make recommendations for future clinical practice. Results are presented in tabular form, with extensive psychiatric and physical health morbidity highlighted. Compliance with audit scores also suggested significant gaps in physical health care and monitoring. There is a need for close working relationships between the patient, carers, health and social care professionals at all levels to mitigate these issues and larger scale audits involving multiple centres are needed to further improve quality of service offered to this patient group.


Contributors

Amiola, A., Temple, P., Singh, A., Manilka Brahmana, M., Rayala, M., & Gunaratna, I.

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Challenging behaviour and the use of pharmacological interventions

Seminars in the Psychiatry of Intellectual Disability


Contributors

Devapriam J & Alexander, R.T.

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Characters with Autism Spectrum Disorder in Fiction: Where are the Women and Girls?

Fiction has the potential to dispel myths and helps improve public understanding and knowledge of the experiences of under-represented groups. Representing the diversity of the population allows individuals to feel included, connected with and understood by society. Whether women and girls with autism spectrum disorder (ASD) are adequately and accurately represented in fictional media is currently unknown. The paper aims to discuss this issue.


Contributors

Tharian, P., Henderson, S., Wathanasin, N., Hayden, N., Chester, V., & Tromans, S.

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Autistic women and girls: increasingly recognised, researched and served

This is the second of two special issues focussing on autistic women and girls. Part One, published in March 2019, included a diverse range of papers, including the journey to diagnosis (), relationships (), mental health comorbidity and forensic involvement (; ), camouflaging (), and representation within the fictional media (). The editorial for this issue was entitled “Autistic women and girls: under-recognised, under-researched and under-served” () reflecting the additional difficulties faced by females with ASD.


Contributors

Chester, V.

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The PAAFID Project: Exploring the Perspectives of Autism in Females among Intellectual Disability Professionals

The purpose of this paper is to explore the perspectives of healthcare professionals on autism in adult females with intellectual disability (ID), including regarding the gender ratio of autism, the clinical manifestation of autism in females, and the recognition, screening and diagnosis of autism.


Contributors

Tromans, S., Chester, V., Kapugama, C., Elliott, A., Robertson, S., & Barrett, M.

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Deliberate Ingestion of Foreign Bodies as a Form of Self-Harm among Inpatients within Forensic Mental Health and Intellectual Disability Services

Deliberate foreign body ingestion is a significant issue in prison and psychiatric settings. It is associated with serious physical complications, including bowel obstruction, perforation and haemorrhage. Episodes of deliberate foreign body ingestion were identified retrospectively from 5417 incident records from two inpatient forensic services (one mental health and one intellectual disability) over a one year timeframe, using related search terms. Rates were compared according to gender, diagnosis and level of security. Incidents of deliberate foreign body ingestion were found to occur on average every 2.7 days across the study population, with 133 incidents recorded over a one year period, accounted for by 27 patients. Women and patients in lower levels of security were significantly more likely to engage in deliberate foreign body ingestion. Staff responses to this behaviour were highly variable. Deliberate foreign body ingestion occurs frequently within inpatient forensic services, and can have significantly detrimental physical implications for affected patients. Further research should investigate the psychiatric and intellectual disability profile of such individuals in further detail, as well as exploring patient narratives; both of which will help inform development of treatment strategies.


Contributors

Tromans, S., Chester, V., Wells, H., & Alexander, R.T.

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The prevention of offending behaviour by people with intellectual disabilities: a case for specialist childhood and adolescent early intervention?

Elucidating where antisocial or violent behaviour arises within the life course of individuals with intellectual disability (ID) could improve outcomes within this population, through informing services and interventions which prevent behaviours reaching a forensic threshold. The paper aims to discuss this issue.


Contributors

Chester, V., Wells, H., Lovell, M., Melvin, C., & Tromans, S.

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Assessing people with intellectual disabilities who have engaged in fire setting

The Wiley Handbook on What Works for Offenders with Intellectual and Development Disabilties 

 

 


Contributors

Tromans, S., Chester, V. & Alexander, R.T.

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Treatment outcomes from forensic intellectual disability services: The perspectives of patients and their family/carers

Research investigating the treatment outcomes of forensic intellectual and developmental disability (FIDD) services has largely focused on the perspectives of clinicians and researchers. This study sought the perspectives of patients and family/carers on the outcomes important to them.

 


Contributors

Chester, V., Geach, N., & Morrissey, C.

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The assessment and treatment of personality disorders in people with intellectual and developmental disabilities (pp. 141-148)

Oxford Textbook of the Psychiatry of Intellectual Disability

  • The definitive text for all psychiatrists and trainees working with patients with intellectual disabilities
  • Written by leading experts in the field

Contributors

Lindsay, W.R., Chester, V. & Alexander, R.

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Current and Future Research Priorities in the Psychiatry of Intellectual Disability

Oxford Textbook of the Psychiatry of Intellectual Disability

  • The definitive text for all psychiatrists and trainees working with patients with intellectual disabilities
  • Written by leading experts in the field

Contributors

Thurston, R., Tromans, S., Chester, V., Cooper, S-A., Strydorm, A., Bhaumik, S. & Rai, D.

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Alcohol and Substance Misuse and People with Intellectual Disabilities (pp. 149-158)

Oxford Textbook of the Psychiatry of Intellectual Disability

  • The definitive text for all psychiatrists and trainees working with patients with intellectual disabilities
  • Written by leading experts in the field

Contributors

Arackal, B., Chester, V., Buxton, T., Devulapally, D., & Lunsky, Y.

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Mental health problems in people with intellectual or developmental disabilities: The Involvement of Family and Carers (pp. 265-274)

  • The definitive text for all psychiatrists and trainees working with patients with intellectual disabilities
  • Written by leading experts in the field

Contributors

Chester, V., James, N., Rogers, I., Grace, J., & Alexander, R.T.

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