Testing in Adults with Intellectual Disability Forensic Network智力残疾的成年人网络取证的基因测试课件.ppt

Physical signs are often absent and are NOT a good guide to whether testing should be done * Cornelia de Lange syndrome: almost all cases are new gene mutations (no family history) Gastro-oesophageal reflux causes hyperactivity and behavioural disturbance which resolve when GORD is treated Tuberous sclerosis: autosomal dominant (2/3 de novo mutations) – off spring have 50% risk of inheriting the disorder Known risk of malignancy – if clinical signs of raised intracranial pressure then urgent investigations are required * Research with both patients and their families show strong support for diagnosis, even for ‘untreatable’ conditions. The diagnostic certainty is valued and families report reduced levels of anxiety and improved care. * Prevalence is 1:4000 * Diagnosis in adulthood directly affected his overall management and ongoing monitoring of life-threatening conditions * Associated with prominent ears, etc but most do not have distinctive features * Premutation carriers at risk of early menopause (20%), with major impact on fertility. 7% will experience menopause at or before age 29 years. * Features that overlap with autism. Generally want to have social contact but are socially inept. * Quote is from Jeremy Turk in his 2011 paper on Fragile X. In contrast to the rest of psychiatry, in patients with LD aetiology can be identified in a significant number of cases, allowing for individualised care and treatment. * Unlikely at present state of knowledge that genetic polymorphisms can be used to assist with violence risk prediction. Some evidence for an interaction with MAOA genes and childhood maltreatment. * Case study Assessed by Cardiologist: showing dilated aortic root requiring regular monitoring and surgery if dilation increases Prescribed losartan to slow progression of dilation Why test? Treatment Fragile X Fragile X Caused by triplet repeat (200 CGG) on tip of X chromosome long arm Frequently normal appearance Mild intellectual disability (often misat