Abstract
Purpose :
Oculomotor apraxia (OMA) is a rare disorder characterized by inability to initiate saccades. In children, OMA may be congenital and idiopathic or secondary to an underlying genetic or neurologic diagnosis. We describe clinical and radiographic findings and outcomes in children with OMA in the modern era of neuroimaging and genetic testing.
Methods :
We conducted a retrospective chart review of all children (<18 years) diagnosed with OMA at our institution from 2010-2020. OMA was diagnosed in children with impaired horizontal and/or vertical saccade initiation during optokinetic nystagmus testing. Children with developmental delays underwent neuroimaging; those with additional medical comorbidities underwent genetic testing. OMA was considered improved if saccades could be generated in the affected direction with or without blinking. We compared children with congenital idiopathic OMA (CIOMA) to those with acquired or congenital OMA secondary to a genetic or neurologic disorder (SOMA).
Results :
37 patients were included. 17 (46%) were congenital and idiopathic, and 20 (54%) were secondary to a genetic or neurologic condition. Among SOMA cases, 17 (85%) had a genetic disorder (6 with Joubert syndrome), 2 had hypoxic-ischemic encephalopathy (10%), and 1 (5%) occurred after encephalitis. Neuroimaging abnormalities (90% vs. 18%, p<0.001) and developmental delays (100% vs. 59%, p=0.002) were more frequent in children with SOMA than CIOMA. Endocrine disorders (most commonly growth hormone deficiency) were diagnosed in 12% of CIOMA and 15% of SOMA cases (p=0.77). Strabismus (45% vs.12%, p=0.03), nystagmus (30% vs. 0%, p=0.02), and vertical saccade involvement (25% vs. 0%, p=0.05) were significantly more common in SOMA than CIOMA. Improvement occurred more frequently in CIOMA than SOMA (77 vs. 35%, p=0.02). Follow-up time did not significantly differ (median 3.5 vs. 3.2 years in CIOMA and SOMA groups, respectively, p=0.77).
Conclusions :
Consistent with prior literature, we report a high frequency of developmental delays, neuroimaging abnormalities, and genetic and neurologic disorders in children with OMA. Additionally, we found that children with both CIOMA and SOMA had a higher rate of endocrine disorders than the general pediatric population, which has not been previously reported. Compared to children with CIOMA, those with SOMA were more likely have vertical involvement, strabismus, nystagmus, and poor oculomotor outcomes.
This is a 2021 ARVO Annual Meeting abstract.