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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