Diagnosis delay in West syndrome: misdiagnosis and consequences

Abstract

West syndrome or infantile spasms is one of the most frequent epileptic syndromes in the first year of life. The clinical symptoms of infantile spasms are very different than any other type of seizure because of both the absence of paroxysmal motor phenomena (i.e., as in a convulsion) and the lack of significant duration of loss of consciousness (i.e., as in absence epilepsy). Infantile spasms may lead to misdiagnosis by pediatricians and other primary care providers. We assessed the missed diagnoses prior to the diagnosis of infantile spasms. We hypothesized that a delay in treatment may have consequences on neurologic outcome. We conducted a multicenter, retrospective, observational study to evaluate occurrence of misdiagnosis and its possible consequences. We performed a multivariate analysis to evaluate the risk for the outcome 2 years after the diagnosis of infantile spasms. We included 83 infants over a 5-year period. The majority of consulted physicians (301 of 362) did not suggest any specific diagnosis while the others suggested gastroesophageal reflux (7 %), constipation (7 %), or colitis (3 %). Results indicated that a poor outcome was related to a delay in diagnosis, which was observed regardless of the existence of cognitive involvement prior to the start of infantile spasms (Relative Risk: RR 12.08 [1.52-96.3]). These results highlight the importance of making an early diagnosis of infantile spasms.

Long-term outcomes in patients with West syndrome: An outpatient clinical study

“…Riikonen [4,5] reported that patients of WS with a favorable outcome had normal neurodevelopment before the onset of the spasms. Nearly all previous studies on this variable reported similar results [3,7,10,[21][22][23][24][25][26]. The presence of parental consanguinity and epilepsy in near relatives showed no significant effect on prognosis in this study.…”

“…Approximately 50% of patients with seizure onset before 12 months of age, excluding the neonatal period, suffer from WS characterized by infantile spasm (IS), psychomotor arrest or retardation, and hypsarrhythmia on electroencephalograms (EEG) [2][3][4]. Epileptic spasms most often show a temporal relationship with hypsarrhythmia, which is the typical interictal EEG activity in WS.…”

Hormonal treatment in West syndrome

“…Так, S. Auvin и соавт. [9] сообщают о том, что пра-вильный диагноз не ставился примерно 80% детей (301 из 362 детей). В отечественной практике за-держка начала адекватной (в данном случае гормо-нальной) терапии, как правило, составляет несколь-ко месяцев.…”

Radiprodil, a NR2B negative allosteric modulator, from bench to bedside in infantile spasm syndrome

“…Onset of spasms is often associated with developmental arrest or regression. The primary goal of treatment is to stop the spasms early in the course of the disease in order to minimize the developmental delay . Up to 20% of patients fail to respond to current standard of care (SoC) with hormonal therapy, vigabatrin, or their combination …”