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 36Â 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 3Â 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 1.9Â h to 8.3Â h and was maintained at 45Â 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 |