Sleep disturbances in Angelman syndrome: a questionnaire study

Bruni, Oliviero; Ferri, Raffaele; D'Agostino, Gaetana; Miano, Silvia; Roccella, Michele; Elia, Maurizio

doi:10.1016/s0387-7604(03)00160-8

Cited by 105 publications

(88 citation statements)

References 28 publications

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“…28,29 Decreased need for sleep and abnormal sleep/wake cycles are characteristic of AS. 28,30,31 Essentially, all young children with AS have some component of hyperactivity; men and women appear equally affected. Infants and toddlers may have seemingly ceaseless activity, constantly keeping their hands or toys in their mouth, moving from object to object.…”

Section: Hyperactive Behaviors and Sleep Problemsmentioning

confidence: 99%

Clinical and genetic aspects of Angelman syndrome

Williams

Driscoll

Dagli

2010

Genetics in Medicine

281

235

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Section: Hyperactive Behaviors and Sleep Problemsmentioning

confidence: 99%

Clinical and genetic aspects of Angelman syndrome

Williams

Driscoll

Dagli

2010

Genetics in Medicine

281

235

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“…Increased sensitivity to heat is reported often by parents but has not yet been the subject of any dedicated clinical or behavioral report in the literature. Abnormal sleep/wake cycles and diminished need for sleep have received considerable attention [Summers et al, 1992;Zhdanova et al, 1999;Bruni et al, 2004;Walz et al, 2005;Conant et al, 2009] but it appears that the characteristics of sleep EEGs and other sleep/wake measures are not specific, per se, to Angelman syndrome [Pelc et al, 2008a]. Abnormal food related behaviors have also been mentioned and moderate obesity often occurs in teenagers and young adults but it is unclear how this relates to food seeking behaviors or other behaviors oriented around food compared to other factors such as diminished activity.…”

Section: Other Noteworthy Behaviors and Preferencesmentioning

confidence: 99%

The behavioral phenotype of the Angelman syndrome

Williams

2010

American J of Med Genetics Pt C

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The Angelman syndrome is clinically delineated by the combination of seizures, absent speech, hypermotoric and ataxic movements and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other ones involving severe developmental handicap. In this review the core neurological features of the syndrome are discussed with a focus on those behaviors that make Angelman syndrome a prototypical genetic disorder expressing a behavioral phenotype.

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“…Bursts of laughter may occur in up to 70% of older individuals [Buntinx et al, 1995]. Sleep problems are well known for AS and frequent awakening at night is common [Bruni et al, 2004;Didden et al, 2004]. Dyssomnias (difficulties in initiating or maintaining sleep), irregular sleep-wake cycles, disruptive night behaviors such as periods of laughter, and sleep-related seizures have been reported [Pelc et al, 2008b].…”

mentioning

confidence: 99%

Molecular and Clinical Aspects of Angelman Syndrome

2011

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The Angelman syndrome is caused by disruption of the UBE3A gene and is clinically delineated by the combination of severe mental disability, seizures, absent speech, hypermotoric and ataxic movements, and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other conditions involving severe developmental handicap. Accurate diagnosis rests on a combination of clinical criteria and molecular and/or cytogenetic testing. Analysis of parent-specific DNA methylation imprints in the critical 15q11.2–q13 genomic region identifies 75–80% of all individuals with the syndrome, including those with cytogenetic deletions, imprinting center defects and paternal uniparental disomy. In the remaining group, UBE3A sequence analysis identifies an additional percentage of patients, but 5–10% will remain who appear to have the major clinical phenotypic features but do not have any identifiable genetic abnormalities. Genetic counseling for recurrence risk is complicated because multiple genetic mechanisms can disrupt the UBE3A gene, and there is also a unique inheritance pattern associated with UBE3A imprinting. Angelman syndrome is a prototypical developmental syndrome due to its remarkable behavioral phenotype and because UBE3A is so crucial to normal synaptic function and neural plasticity.

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Sleep disturbances in Angelman syndrome: a questionnaire study

Cited by 105 publications

References 28 publications

Clinical and genetic aspects of Angelman syndrome

Clinical and genetic aspects of Angelman syndrome

The behavioral phenotype of the Angelman syndrome

Molecular and Clinical Aspects of Angelman Syndrome

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