Skip to main content

Table 4 Recent treatment studies for Angelman syndrome

From: Unmet clinical needs and burden in Angelman syndrome: a review of the literature

Study Number Of Participants Symptom Target Design Intervention/Treatment Outcomes
Harbord, 2001 [31] 2 adults with AS Tremor/Parkinsonism Case study Levodopa Both returned to being independently ambulant following treatment
Kara et al., 2010 [32] 1 young child with AS Gross motor Case study Physiotherapy During 36 months, gross motor function measurement increased from 11.46% to 70.82%
Grieco et al., 2014 [33] 25 children with AS Cognitive and behavioral symptoms of AS Single-arm, open-label Minocycline Significant improvements in fine motor, communication, and self-direction
De Carlos Isla et al., 2015 [34] 1 child with AS Communication Case study Hanen—More Than Words Significant increases in spontaneous interactions, quantity and quality of communicative acts, and increased rate of language development
Calculator, 2002 [46] 9 children with AS Communication Feasibility study Home-based training of parents on promoting enhanced natural gestures for communication Parents found this method to be acceptable, effective, reasonable, and easy to learn and teach
Calculator and Sela, 2015 [47] 3 children with AS Communication Case study Teachers used strategies in the classroom to promote enhanced natural gestures for communication Some efficacy for all 3 participants; 2 out of 3 of the students showed rapid and spontaneous use of enhanced natural gestures
Calculator, 2016 [48] 18 children with AS Communication Quasi-experimental Home-based training of parents on promoting enhanced natural gestures for communication Most children met or exceeded their predetermined communication goals
Radstaake et al., 2013 [80] 3 children with AS Behavior Case study Functional analysis and functional communication training In all 3 children, challenging behaviors decreased (large effect for 1 and a medium effect for the other 2) as a result of functional communication training
Summers, 2012 [81] 8 children with AS (4 in treatment, 4 in intervention) Adaptive behavior Nonrandomized pre-test/post-test control group design Applied behavior analysis Positive trends all 4 children in the intervention group for fine motor and receptive language. Not statistically significant, but suggestive of possible benefit.
Heald et al., 2013 [82] 4 children with AS Social approach Case study Discrimination training All 4 children showed reduced rates of social approach in response to a stimulus, suggesting this approach could provide a method for teaching children to recognize when adults are available in order to reduce inappropriate social approach
Takaesu et al., 2012 [93] 6 children with AS and documented circadian rhythm sleep disorders Sleep Case study Melatonin 4 out of 6 children showed improvements in sleep patterns over 3 months of melatonin treatment
Summers et al., 1992 [97] 1 child with AS Sleep Case Study Diphenhydramine hydrochloride before bedtime, combined with behavioral treatment consisting of not allowing the child to sleep during the day, restricting access to fluids at night, and going to bed at a consistent hour every night. Night sleep increased from 1.9 h to 8.3 h and was maintained at 45 day follow up.
Braam et al., 2008 [94] 8 children with AS Sleep Randomized placebo-controlled study 2 doses of melatonin relative to placebo Melatonin significantly improved sleep onset, decreased sleep latency, increased total sleep time, and reduced the number of night wakings in all 4 treatment group participants compared with the 4 participants in the placebo group
Forrest et al., 2009 [99] 4 children with AS Sleep Case study Corticosteroid therapy In addition to improving seizures and epileptic spasms, this treatment also improved developmental progress (e.g., increased alertness and responsiveness, improved fine motor skills) and sleep in all 4 children
Allen et al., 2013 [100] 5 children with AS Sleep Case study—multiple baseline Behavioral treatment targeting sleep environment, sleep-wake schedule, and parent-child interactions during sleep time Independent sleep initiation was increased for all participants; statistically significant changes in disruptive bedtime behaviors and in sleep onset
Radstaake et al., 2014 [104] 7 individuals with AS Toilet training Case study—A-design Prompts for voiding with reinforcement All showed some improvements, but only 3 maintained positive results after 3–18 months
  1. AS Angelman syndrome