Quality of Life in Angelman Syndrome: A Caregivers' Survey.

BACKGROUND: Angelman syndrome (AS) is a genetic disorder, characterized by a cheerful disposition with bouts of laughter, developmental delay, speech impairment, ataxia, and seizures. Previous AS surveys have focused on the natural history, describing seizure types and response to anti-seizure medications. METHODS: A web-based survey was distributed to caregivers of individuals with AS to characterize motor function, cannabidiol (CBD) use, and factors affecting quality of life (QOL). RESULTS: Of a total of 183 individuals with AS (mean age 19.4 ± 13.4 years; 48.1% female), 72% had sleep problems, 80% had seizures, and 32% had one or more emergency department visits in the previous year. Eighty-eight percent were ambulatory (with or without assistance), and half experienced falls, 10.4% resulting in serious injury. Caregivers reported physical therapy, antiseizure medication, CBD, and clonidine as helpful. Inability to walk, falls/drops, sleep problems, and seizures significantly affected QOL (P < 0.002, <0.001, <0.001, P = 0.001, respectively). QOL was not influenced by gender, distance to the hospital, or genetic abnormality. CONCLUSIONS: These findings suggest that seizures are the tip of the iceberg. Use of a brief, valid screening tool can assist providers with identifying and addressing issues of primary concern to caregivers of individuals with AS.

Factors Associated With Ambulation and Transfer Ability: A Study From the National Spina Bifida Patient Registry.

OBJECTIVES: This study used a spina bifida electronic medical record and the National Spina Bifida Patient Registry to explore the relationship between neurosurgical/orthopedic surgeries and other variables on ambulation and transfer ability over time in individuals with spina bifida. DESIGN: This study was an analysis of longitudinal data collected within the National Spina Bifida Patient Registry and spina bifida electronic medical record. Logistic regression models were used to determine which variables were associated with ambulation/transfer ability in the myelomeningocele (MMC) and non-MMC populations. RESULTS: Longitudinal data from 806 individuals were collected. In the MMC group, decreased ambulation ability was associated with higher motor levels, tethered cord releases, spine/scoliosis surgeries, hip orthopedic surgeries, and having supplemental insurance. Increased ambulatory ability was associated with lower motor levels, tibial torsion/related surgeries, ankle/foot surgeries, being female, and being non-Hispanic/Latinx. Decreased transfer ability was associated with being Hispanic/Latinx and having higher motor levels. Lower motor level and ankle/foot surgeries were associated with increased transfer ability. No significant associations were found in the non-MMC group. CONCLUSIONS: Motor level is an important predictor of ambulation and transfer ability in MMC. Surgeries distal to the knee were associated with higher levels of function; surgeries proximal to the knee were associated with lower functional levels.