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Review
. 2017 Oct 16;12(1):164.
doi: 10.1186/s13023-017-0716-z.

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

Anne C Wheeler  1 , Patricia Sacco  2 , Raquel Cabo  3
Affiliations
Review

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

Anne C Wheeler et al. Orphanet J Rare Dis. .

Abstract

Background: Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features-movement disorders, communication impairments, behavior, and sleep.

Main text: A targeted literature review using electronic medical databases (e.g., PubMed) was conducted to identify recent studies focused on specific areas of the AS phenotype (motor, communication, behavior, sleep) as well as epidemiology, diagnostic processes, treatment, and burden. 142 articles were reviewed and summarized. Findings suggest significant impairment across the life span in all areas of function. While some issues may resolve as individuals get older (e.g., hyperactivity), others become worse (e.g., movement disorders, aggression, anxiety). There are no treatments focused on the underlying etiology, and the symptom-based therapies currently prescribed do not have much, if any, empirical support.

Conclusions: The lack of standardized treatment protocols or approved therapies, combined with the severity of the condition, results in high unmet clinical needs in the areas of motor functioning, communication, behavior, and sleep for individuals with AS and their families.

Keywords: Angleman syndrome; Burden; Clinical features; Treatments; Unmet clinical needs.

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Conflict of interest statement

Ethics approval and consent to participate

Not applicable.

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Not applicable.

Competing interests

All authors receive funding for this work from Ovid Therapeutics.

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Figures

Fig. 1
Fig. 1
PRISMA 2009 Flow Diagram
See this image and copyright information in PMC

References

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