RESUMEN
BACKGROUND: Criteria developed for the diagnosis of multiple sclerosis (MS) in adults are also used in the pediatric setting. However, differential diagnosis in pediatric-onset MS (POMS) is distinct from that of adult-onset MS. There is little literature characterizing the utility of oligoclonal bands (OCB) and IgG index in differentiating POMS from other childhood diseases with overlapping clinical presentation which can require immediate treatment. METHODS: A retrospective review of all MS panels resulted between March 2022 and May 2023 on patients age ≤ 18 years at one tertiary care pediatric hospital in the northeastern United States was performed with pediatric neurology collaboration to characterize clinical utility (n = 85 cases). RESULTS: Demyelinating diseases accounted for 31 of 85 total cases (36.5%), 12 of these cases were POMS (14%). Other diagnoses consisted of psychiatric etiologies (17.6%), infectious meningitis/encephalitis (5.9%), and migraine (5.9%). Elevated IgG index was seen in 67% of those with demyelinating diseases, versus only 13% of those with other conditions. Unique OCBs were found in 41% of those with demyelinating diseases, versus only 9% of those with other conditions. Fourteen of 15 patients (93.3%) with psychiatric conditions had normal MS panels. CONCLUSIONS: Patients with demyelinating diseases were more likely to have elevated IgG index and unique OCBs versus patients with other conditions. For pediatric hospitals without in-house OCB evaluation, implementation of an in-house IgG index may serve as a rapid screen for differentials that include demyelinating diseases while awaiting OCB results, in the appropriate clinical context. IMPACT STATEMENT: IgG index and CSF oligoclonal bands are important tools in the diagnosis of patients with suspected Multiple Sclerosis (MS). In the pediatric population, these markers are used to differentiate pediatric-onset MS (POMS) from other neurologic, psychiatric, and inflammatory diseases that display clinical overlap. The use of these markers in differentiating these conditions has not been thoroughly investigated. We examined the associations between abnormal markers and final diagnoses in pediatric patients undergoing testing for POMS in order to identify trends that may enhance ordering and reporting practices.
Asunto(s)
Hospitales Pediátricos , Inmunoglobulina G , Esclerosis Múltiple , Bandas Oligoclonales , Centros de Atención Terciaria , Humanos , Bandas Oligoclonales/líquido cefalorraquídeo , Niño , Inmunoglobulina G/líquido cefalorraquídeo , Masculino , Femenino , Adolescente , Estudios Retrospectivos , Esclerosis Múltiple/líquido cefalorraquídeo , Esclerosis Múltiple/diagnóstico , Preescolar , Diagnóstico DiferencialRESUMEN
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.
Asunto(s)
Síndrome de Angelman , Cannabidiol , Trastornos del Sueño-Vigilia , Humanos , Femenino , Niño , Adolescente , Adulto Joven , Adulto , Masculino , Calidad de Vida , Cuidadores , Ataxia , Trastornos del Sueño-Vigilia/etiologíaRESUMEN
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.