Publications by authors named "Fabienne Dietrich Alber"
Objective: To report a prospectively planned analysis of two randomised controlled trials with embedded comparisons of prednisolone versus tetracosactide depot for the treatment of infantile epileptic spasms syndrome (IESS).
Methods: Individual patient data from patients randomly allocated to prednisolone or tetracosactide depot were analysed from two trials (UKISS, ICISS). The comparison was embedded within trials in which some patients also received vigabatrin but only patients receiving monotherapy with randomly allocated hormonal treatments are included in this analysis.
IQ predictors in pediatric opsoclonus myoclonus syndrome: a large international cohort study.
Dev Med Child Neurol
December 2020
Aim: To determine predictors of full-scale IQ (FSIQ) in an international pediatric opsoclonus myoclonus syndrome (OMS) cohort.
Method: In this retrospective and prospective cohort study at three academic medical centers (2006-2013), the primary outcome measure, FSIQ, was categorized based on z-score: above average (≥+1), average (+1 to -1), mildly impaired (-1 to -2), and impaired (<-2). Univariate analysis and multivariable linear regression modeling using stepwise selection with Akaike's information criterion was performed to understand the relationship between exposures and FSIQ.
Article Synopsis
- A study examined the causes and treatment responses in 377 infants with infantile spasms, finding that 58% had a known underlying cause, with varying response rates to different treatments.* -
- Infants with strokes showed better treatment responses (82%) compared to other causes (56%), and those with Down syndrome had similar response rates across treatment types, indicating no significant advantage from adding vigabatrin.* -
- The findings highlight the importance of classification for comparing outcomes and suggest that specific underlying conditions may be linked to better or different responses to treatment in infantile spasms.*
Beginning in 2006, the Urea Cycle Disorders Consortium (UCDC) has conducted a longitudinal study of eight inherited deficiencies of enzymes and transporters of the urea cycle, including 444 individuals with ornithine transcarbamylase deficiency (OTCD), of whom 300 (67 males, 233 females) received psychological evaluation. In a cross-sectional study (age range, 3-71 years), analysis of covariance (ANCOVA) determined the association between outcomes in five cognitive domains (global intelligence, executive functions, memory, visuomotor integration, visual perception) and sex, age at testing and timing of disease onset defined as early onset (≤28 days; EO), late onset (LO), or asymptomatic (AS). The dataset of 183 subjects with complete datasets (31 males, 152 females) revealed underrepresentation of EO subjects (2 males, 4 females), who were excluded from the ANCOVA.
View Article and Find Full Text PDFVigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial.
Lancet Child Adolesc Health
October 2018
Article Synopsis
- The International Collaborative Infantile Spasms Study (ICISS) found that using a combination of vigabatrin and hormonal therapy was more effective than hormonal therapy alone in treating infantile spasms during the first 14 to 42 days of treatment.* -
- The follow-up study aimed to determine if this combination therapy also led to better developmental and epilepsy outcomes for infants at 18 months of age.* -
- The trial involved multiple hospitals across several countries, using a randomized controlled design to compare therapies, and assessed outcomes using measures such as the Vineland Adaptive Behaviour Scales and seizure frequency.*
Article Synopsis
- Infantile spasms is a severe epilepsy syndrome in infants, often hard to treat, with hormonal therapy and vigabatrin being common treatments.
- A trial involving 102 hospitals aimed to determine if combining hormonal therapy with vigabatrin was more effective than hormonal therapy alone in treating this condition.
- The study enrolled 766 infants, with 377 randomly assigned to receive either the combined treatment or hormonal therapy alone, measuring the primary outcome of cessation of spasms over a designated period.
Purpose: Rhombencephalosynapsis is a rare congenital cerebellar malformation increasingly recognized by prenatal and neonatal neuroimaging. Cognitive outcome seems to be variable but is not well documented.
Aims And Methods: To study neurological, behavioural, and cognitive functions of patients with non-syndromic rhombencephalosynapsis, five patients (three female and two male, mean age at the time of this study 8.
Gomez-Lopez-Hernandez syndrome (GLHS) is a rare syndrome comprising the triad rhombencephalosynapsis (RS), parietal alopecia, and trigeminal anesthesia. Other typical findings are skull abnormalities, craniofacial dysmorphic signs, and short stature. Intellectual impairment is typical but cases with normal cognitive functions have also been reported.
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