Audio or Video? Access to Pediatric Neurology Outpatient Services Varies by the Type of Telehealth, Especially for Black Children.

BACKGROUND: Children of minority race/ethnicity face barriers to accessing specialty services. During the COVID pandemic, health insurance companies reimbursed telehealth services. Our objective was to evaluate the effect of audio versus video visits on children's access to outpatient neurology services, particularly for Black children. METHODS: Using Electronic Health Record data, we collected information about children who had outpatient neurology appointments in a tertiary care children's hospital in North Carolina from March 10, 2020, to March 9, 2021. We used multivariable models to compare appointment outcomes (canceled vs completed, and missed vs completed) by visit type. We then conducted similar evaluation for the subgroup of Black children. RESULTS: A total of 1250 children accounted for 3829 scheduled appointments. Audio users were more likely to be Black and Hispanic, and to have public health insurance than video users. Adjusted odds ratio (aOR) for appointments completed versus canceled was 10 for audio and 6 for video, compared to in-person appointments. Audio visits were twice as likely as in-person visits to be completed versus missed; video visits were not different. For the subgroup of Black children, aOR for appointments completed versus canceled for audio was 9 and video was 5, compared to in-person appointments. For Black children, audio visits were 3 times as likely as in-person visits to be completed versus missed; video visits were not different. CONCLUSIONS: Audio visits improved access to pediatric neurology services, especially for Black children. Reversal of policies to reimburse audio visits could deepen the socioeconomic divide for children's access to neurology services.

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.

OBJECTIVE: To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with extremely severe phenotypes. METHODS: We performed an international cross-sectional study on patients with genetically proven POLR3-related leukodystrophy and atypical phenotypes to identify 6 children, 3 males and 3 females, with an extremely severe phenotype compared with that typically reported. Clinical, radiologic, and molecular features were evaluated for all patients, and functional and neuropathologic studies were performed on 1 patient. RESULTS: Each patient presented between 1 and 3 months of age with failure to thrive, severe dysphagia, and developmental delay. Four of the 6 children died before age 3 years. MRI of all patients revealed a novel pattern with atypical characteristics, including progressive basal ganglia and thalami abnormalities. Neuropathologic studies revealed patchy areas of decreased myelin in the cerebral hemispheres, cerebellum, brainstem, and spinal cord, with astrocytic gliosis in the white matter and microglial activation. Cellular vacuolization was observed in the thalamus and basal ganglia, and neuronal loss was evident in the putamen and caudate. Genotypic similarities were also present between all 6 patients, with one allele containing a POLR3A variant causing a premature stop codon and the other containing a specific intronic splicing variant (c.1771-7C>G), which produces 2 aberrant transcripts along with some wild-type transcript. CONCLUSIONS: We describe genotype-phenotype correlations at the extreme end of severity of the POLR3-related leukodystrophy spectrum and shed light on the complex disease pathophysiology.

Quinidine in the treatment of KCNT1-positive epilepsies.

We report 2 patients with drug-resistant epilepsy caused by KCNT1 mutations who were treated with quinidine. Both mutations manifested gain of function in vitro, showing increased current that was reduced by quinidine. One, who had epilepsy of infancy with migrating focal seizures, had 80% reduction in seizure frequency as recorded in seizure diaries, and partially validated by objective seizure evaluation on EEG. The other, who had a novel phenotype, with severe nocturnal focal and secondary generalized seizures starting in early childhood with developmental regression, did not improve. Although quinidine represents an encouraging opportunity for therapeutic benefits, our experience suggests caution in its application and supports the need to identify more targeted drugs for KCNT1 epilepsies.

Successful ECT treatment for medically refractory nonconvulsive status epilepticus in pediatric patient.

Status epilepticus is a life threatening condition with a high mortality rate in spite of aggressive treatment. There is little consensus on third and fourth line approaches in refractory cases. While electroconvulsive therapy (ECT) has been employed successfully as a treatment for refractory epilepsy and status epilepticus (SE) after exhausting conventional therapy, its use for pediatric patients is limited. We describe a 7-year-old pediatric case in which ECT was used successfully to treat medically refractory nonconvulsive status epilepticus (NCSE) without complete withdrawal of antiepileptic drugs (AED).