Addressing the needs of patients and their family: conclusion.
Four steps, which have been clearly described in the previous texts, can be used to help families of patients with Dravet syndrome. The first is the right diagnosis. The article by I. Scheffer reviewed the clinical presentation of Dravet syndrome. Diagnosis at the onset is sometimes difficult. In doubtful cases, when convulsive seizures are repeated and prolonged, I advocate early treatment under the presumption that it may be Dravet syndrome, so that complications such as status epilepticus or inappropriate use of antiepileptic drugs may be avoided. The occurrence of photosensitivity is difficult to quantify because it is variable and is dependent on the inclusion or exclusion of pattern-sensitivity and eye closure effect. Differences may exist between countries, but in our experience it is much more frequent than 10% of cases. The second step is use of the appropriate treatment. As shown by R. Nabbout, the development of stiripentol provided great progress in treatment, since it is the only drug that has demonstrated efficacy in double-blind clinical studies. I hope ongoing studies will lead to its wider use in more patients and that other new drugs will be developed. The third step is addressing the burden of the disease on the families. P. Camfield, in his presentation of family problems, has considered this aspect in a realistic way. In the most severe patients, the placement of an indwelling catheter is undoubtedly a means of preventing status epilepticus. The designation of one parent to be "on call" for the affected child and the other for the siblings is another good suggestion. The fourth step is understanding the factors responsible for the cognitive decline, which were explained by R. Guerrini, and providing the families with all possible assistance in order to decrease this risk. The distribution of cognitive levels depends on the time when patients were evaluated. Update data tend to indicate that those recently diagnosed appear to have less severe decline than those diagnosed long ago, perhaps as a result of better patient management.
Centre Saint-Paul-Hôpital Henri Gastaut, Marseille, France. charlotte.dravet@free.fr
Charlotte
C
Dravet
D000927:Anticonvulsants / Q000627:therapeutic use; D017028:Caregivers / Q000523:psychology; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000628:therapy*; D005190:Family; D006801:Humans; D012944:Social Support
D000927:Anticonvulsants