Abstract
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.
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All authors contributed to the study conception and design. Clinical data gathering, preparation, and analysis were performed by Phil Temple and Ashok Singh. The first draft of the manuscript was written by Ayomipo Amiola and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript written by Ayomipo Amiola.
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Singh, A., Amiola, A., Temple, P. et al. 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. J. Psychosoc. Rehabil. Ment. Health 10, 443–449 (2023). https://doi.org/10.1007/s40737-023-00366-z
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DOI: https://doi.org/10.1007/s40737-023-00366-z