Background Sturge Weber syndrome (SWS) is a sporadic disorder characterised by intracranial cortical venous dysplasia (leptomeningeal angiomatosis), cutaneous capillary angioma, and glaucoma due to anomalous embryonic vascular development. The abnormality of the cerebral venous circulation is associated with cerebral ischaemia. Seizures occur in up to 80%, frequently presenting with seizure clusters or status epilepticus and associated with a neurological deficit (hemiparesis). Early recognition, prompt treatment and control of seizures are crucial to prevent a permanent neurological deficit.
Aims Audit of a specialist SWS service at a tertiary neurology centre with particular reference to: (1) the role of the service and clinical nurse specialist (CNS) in liaison with the child’s paediatric service and (2) factors related to local acute seizure management.
Methods (1) 72 questionnaires were sent to parents/carers of children in the service in July 2013. Responses indicated parental concern regarding recognition of need for prompt review and treatment, recognition of seizures and appropriate medical care at their local hospitals. In response we reviewed. (2) All telephone clinical contacts to the CNS and neurology consultant queries regarding children with SWS between February 2011 and October 2013.
24 parental questionnaires were returned (33% response rate). Responses were compared with a previous audit of services in March of 2012. (2) Review of contacts to the CNS between 17/10/11 and 09/10/13 identified 125 contacts regarding 34 individual patients. Review of clinical queries to consultants between 23/2/11 and 7/9/13 identified 28 queries regarding 16 individual patients.
Results 41.6% of parents did not agree that their “local hospital understands the need for prompt review and treatment of seizure/weakness” and 45.8% did not agree they received “appropriate medical care at local hospital”. Parental comments highlighted difficulties with recognition of seizures which were often subtle focal or dyscognitive seizures. 21% (55) of contacts with the CNS were regarding seizure management with a further 2% (4) raising concerns regarding local management. 52% (44) of consultant clinical queries were from local hospitals regarding acute seizure management.