Chromosome 22q11.2 Duplication Syndrome and Diagnostic Overshadowing: A Case Report

Aims Mental health comorbidity is higher in those with learning disability especially who are within forensic services than the general population and diagnostic overshadowing a particular problem. Hence, all behavioural or mental related presentations often attributed to vice versa without an adequate investigation of causes disability. This case report young male mild LD longstanding problem was described as having personality disorder community. Systematic evaluation showed presence 22q11.2 Duplication Syndrome. While adding sparse literature on physical phenotype syndrome, it also allowed his presentation be re-formulated. changed treatment plan outcome. Methods 28-year-old, single, Caucasian delayed developmental milestones referred Children Health Services for difficulties ADHD-like features. In early adulthood, problems continued aggression towards others under care community team although lack clarity poor compliance. Violence self led several short hospital admissions, mainly because he tended discharge himself against medical advice. The predominant formulation one man + psychosis substance misuse disorder. Facing multiple charges assault, court, advice, gave him order medium secure unit people disabilities where went through detailed systematic that revealed new findings. Based this, 10-point-treatment programme. Results Clinicians need aware leading misattribution consequently treatment. this case, sensory impairments associated Syndrome affected communication. His tunnel vision bump into pubs other public places giving impression deliberate antisocial behaviour. atypical autism, co-existing illness further complicated picture. Confirmation underlying genetic syndrome its different psychological from earlier which based It more targeted strategies patient could discharged back setting. Conclusion rare can cause Its phenotypic features literature, were present patient. addition, highlights three previously unreported findings: Cochlear Nerve Atresia, Tubular Vision, Characteristic groove skin fold scalp schizoaffective illness.