تشخیص اشتباه صرع در افراد مبتلا به معلولیت ذهنی: یک مرور نظام مند

Abstract Purpose Epilepsy is common in people with intellectual disabilities. Epilepsy can be difficult to diagnose and may be misdiagnosed in around 25% of cases. A systematic review was conducted to explore: (i) How common the misdiagnosis of epilepsy is amongst people with intellectual disabilities. (ii) Reasons for misdiagnosis of epilepsy. (iii) Implications of misdiagnosis. (iv) Improving diagnosis. Methods Primary studies and systematic reviews published in the English language between 1998 and 2008 were identified from electronic databases, experts, the Internet, grey literature, and citation tracking. Included studies were critically appraised by team members using the appraisal tools produced by the Critical Appraisal Skills Programme (CASP) at the Public Health Resource Unit, Oxford. Results Eight studies were included in the review and critically appraised: six cohort studies and two case studies. Where data was provided in the cohort studies between 32% and 38% of people with intellectual disabilities were diagnosed as not having epilepsy or as having nonepileptic events. The main reason for misdiagnosis was the misinterpretation of behavioural, physiological, syndrome related, medication related or psychological events by parents, paid carers and health professionals. Conclusions Those working in epilepsy and intellectual disability services and families must be made more aware of the possibility of misdiagnosis. Future research is needed about the misdiagnosis of epilepsy amongst people with intellectual disabilities and carer knowledge.

Epilepsy affects 0.5–1% of the British population and up to a quarter of people with epilepsy are believed to have intellectual disabilities.1 Epilepsy is more common in people with intellectual disabilities than the general population and seems to increase with the severity of disability.2 Prevalence rates rise from 15% in people with moderate intellectual disabilities to 30% in people with severe and profound intellectual disabilities.1 In England, National Institute for Clinical Excellence (NICE) clinical guidelines state that diagnosis of epilepsy should be established by a specialist medical practitioner with training and expertise in epilepsy.3 Diagnosis is based upon a detailed history and (where possible) eyewitness reports of events usually supplemented with EEG. Where diagnosis cannot be clearly established, further investigations (e.g., blood tests, sleep EEG, neuro-imaging and 12-lead ECG) and/or referral to a tertiary centre and cardiologist should be considered.3 It is difficult to diagnose epilepsy and epilepsy may be misdiagnosed in around 25% of cases.3 Conditions such as syncope, paroxysmal disorders or conversion disorder may be misdiagnosed as epilepsy,4 leading to potential over-diagnosis of epilepsy. Alternatively, the symptoms of epileptic seizures may be misdiagnosed as resulting from psychiatric or associated disorders, leading to potential under-diagnosis of epilepsy.3 The adequacy of epilepsy service provision and resourcing may also have implications for diagnosis; e.g., the misdiagnosis or mistreatment for childhood epilepsy by a Paediatrician Consultant working at Leicester Royal Infirmary in the 1990s drew attention to the potential for misdiagnosis and raised a number of questions about the provision of epilepsy services in the United Kingdom.5, 6, 7 and 8 The misdiagnosis of epilepsy may lead to human costs such as distress to patients and carers, unnecessary lifestyle changes, social stigma, social and financial deprivation.9 and 10 People may receive inappropriate treatment for a condition they do not have, whilst their true condition is not being treated. Seizure activity may continue when epilepsy is not diagnosed and treated and very occasionally, an incorrect diagnosis of epilepsy can result in death if a serious condition remains undiagnosed or untreated.3 In addition, the misdiagnosis of epilepsy has economic costs, placing an unnecessary burden on the NHS.3 Taking into account unnecessary treatment costs, the economic costs of lost work and payment of disability living allowance, the estimated annual cost of epilepsy misdiagnosis in England is around £189 million.10