Urologic self-management through intermittent self-catheterization among individuals with spina bifida: A journey to self-efficacy and autonomy.

PURPOSE: To describe the age of independence in intermittent self-catheterization (ISC) in a diverse patient population and identify factors associated with ISC in individuals with spina bifida. METHODS: Two hundred patients with myelomeningocele or lipomyelomeningocele, who were ⩾ 3 years of age and utilized catheterization for bladder management were included. Data regarding diagnosis, functional level of lesion, race, ethnicity, presence of shunt, method of catheterization, self-management skills, fine motor skills, and cognitive abilities were collected. RESULTS: Fifty-five percent of individuals were able to perform ISC with a mean age of 9.45 years (SD = 2.97) and 22.7% used a surgically created channel. Higher level of lesion and female gender were associated with a lower rate of ISC. Intellectual disability was present in 15% of the individuals able to perform ISC and in 40% of those not able to perform ISC (p= 0.0005). Existent self-efficacy regarding activities of daily living (i.e. dressing, bathing, skin care) were associated with ISC (p< 0.0001). CONCLUSIONS: The average age of ISC emerged as a target for culturally-appropriate educational interventions to stimulate greater early independence. Future research on factors that may foster an 'independent spirit' early in childhood leading to self-management are warranted.

Utility of whole exome sequencing in evaluation of juvenile motor neuron disease.

INTRODUCTION: This case report focuses on identifying novel mutations in juvenile motor neuron disease and emphasizes the significance of whole exome sequencing (WES). METHODS: We report a 13-year-old Hispanic boy with rapidly progressive weakness, muscle atrophy, tremor, and tongue fasciculation, along with upper motor neuron findings of hyperactive gag reflex, hyperreflexia, and cog-wheel rigidity. Electromyography was suggestive of motor neuron disease. After an extensive evaluation, WES was performed. RESULTS: WES identified a heterozygous de novo variant of unknown clinical significance (VUS) in the fused-in-sarcoma gene (FUS) [c.1554_1557del]. Although initially reported as a VUS, the clinical data from our patient and data from the medical literature support that the variant is indeed disease-causing. CONCLUSIONS: The genetic etiology of amyotrophic lateral sclerosis (ALS) is heterogeneous and, as clinical sequencing for FUS was not available, WES was the only method by which a diagnosis of juvenile ALS could be made.