Sagittal Plane Deformities in Children with SMA2 following Posterior Spinal Instrumentation.

This is a retrospective radiographic review to assess post-operative sagittal plane deformities in patients with Spinal Muscular Atrophy type 2 that had been treated with posterior spinal instrumentation. Thirty-two patients with a history of either spinal fusion (N = 20) or growing rods (N = 12) were identified with an average of 7.6 (2.

Digital endpoints for self-administered home-based functional assessment in pediatric Friedreich's ataxia.

Background: Friedreich's ataxia is an inherited, progressive, neurodegenerative disease that typically begins in childhood. Disease severity is commonly assessed with rating scales, such as the modified Friedreich's Ataxia Rating Scale, which are usually administered in the clinic by a neurology specialist.

Objective: This study evaluated the utility of home-based, self-administered digital endpoints in children with Friedreich's ataxia and unaffected controls and their relationship to standard clinical rating scales.

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.

Background: Spinal muscular atrophy type 1 is a motor neuron disorder resulting in death or the need for permanent ventilation by age 2 years. We aimed to evaluate the safety and efficacy of onasemnogene abeparvovec (previously known as AVXS-101), a gene therapy delivering the survival motor neuron gene (SMN), in symptomatic patients (identified through clinical examination) with infantile-onset spinal muscular atrophy.

Methods: STR1VE was an open-label, single-arm, single-dose, phase 3 trial done at 12 hospitals and universities in the USA.

Is prophylactic formal fusion with implant revision necessary in non-ambulatory children with spinal muscular atrophy and growing rods who are no longer lengthened?

Study Design: Single center, retrospective chart review.

Objectives: To determine if routine posterior spinal fusion (PSF) is unnecessary in non-ambulatory growing rod graduates with SMA. Most non-ambulatory children with SMA develop early-onset scoliosis (EOS).

A Prospective, Crossover Survey Study of Child- and Proxy-Reported Quality of Life According to Spinal Muscular Atrophy Type and Medical Interventions.

Background: Spinal muscular atrophy is an autosomal-recessive, progressive neuromuscular disease associated with extensive morbidity. Children with spinal muscular atrophy have potentially increased life spans due to improved nutrition, respiratory support, and novel pharmaceuticals.

Objectives: To report on the quality of life and family experience for children with spinal muscular atrophy with attentiveness to patient- and proxy-concordance and to stratify quality of life reports by spinal muscular atrophy type and medical interventions.

Acute Demyelinating Lesion of the Upper Thoracic Spine Complicating Kawasaki Disease.

We present the first reported case of a child with Kawasaki disease (KD) complicated by meningoencephalitis and an acute focal demyelinating lesion. Neurologic outcome in this patient was excellent without any persistent neurologic deficits. We also review the neurologic complications associated with KD.

Propofol-fentanyl versus propofol alone for lumbar puncture sedation in children with acute hematologic malignancies: propofol dosing and adverse events.

Objective: We sought to determine whether the combination of propofol and fentanyl results in lower propofol doses and fewer adverse cardiopulmonary events than propofol and placebo for lumbar puncture in children with acute hematologic malignancies.

Design: Randomized, controlled, double blind, crossover study.

Setting: Pediatric Sedation Program.