Angelman syndrome: Are the estimates too low?

Buckley, Robert H.; Dinno, Nuhad D.; Weber, Patricia A.

doi:10.1002/(sici)1096-8628(19981204)80:4<385::aid-ajmg15>3.0.co;2-9

Cited by 79 publications

(60 citation statements)

References 14 publications

(18 reference statements)

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“…Angelman syndrome is a rare neurodevelopmental disorder first described in 1965 (Angelman, 1965) with a current prevalence estimate of 1 in 40,000 live births (Buckley, Dinno, & Weber, 1998;Clayton-Smith, 1993). It is caused by a disruption of the maternally inherited portion of chromosome 15q 11-13 (Clayton- Smith & Laan, 2003;Knoll, Nicholls, & Lalande, 1989) via four known genetic mechanisms (Jiang, Lev-Lehman, Bressler, Tsai, & Beadet, 1999;Lossie et al, 2001).…”

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confidence: 99%

The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities

Adams¹,

Oliver²

2011

Clinical Psychology Review

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The expression of emotions and internal states by individuals with severe or profound intellectual disabilities is a comparatively under-researched area. Comprehensive or standardised methods of assessing or understanding the emotions and internal states within this population, whose ability to communicate is significantly compromised, do not exist.The literature base will be discussed and compared to that within the general population.Methods of assessing broader internal states, notably depression, anxiety, and pain within severe or profound intellectual disabilities are also addressed. Finally, this review will examine methods of assessing internal states within genetic syndromes, including hunger, social anxiety and happiness within Prader-Willi, Fragile-X and Angelman syndrome. This will then allow for the identification of robust methodologies used in assessing the expression of these internal states, some of which may be useful when considering how to assess emotions within individuals with intellectual disabilities.

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confidence: 99%

The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities

Adams¹,

Oliver²

2011

Clinical Psychology Review

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“…3 In recent years clearer delineation of the clinical phenotype of Angelman syndrome and improved diagnostic testing has led to improved recognition of the condition and the incidence of Angelman syndrome is now estimated to be between 1 in 10 000 and 1 in 40 000. [4][5][6][7] Studies of the specific cognitive and behavioural features associated with AS 8 and of the seizure disorder have improved management of the condition and provided insight into the long term outlook for affected patients. Molecular genetic studies have begun to elucidate the role of genes within the 15q11-13 region in the pathophysiology of Angelman syndrome 9 and have also shed light on the more general phenomenon of genomic imprinting.…”

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confidence: 99%

Angelman syndrome: a review of clinical and genetic aspects

Laan

Haeringen

Brouwer

1999

Clinical Neurology and Neurosurgery

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“…For AS the prevalence ranges from 1 in 20,000 in the United States (Buckley et al, 1998) to 1 in 12,000 in Sweden (Steffenburg et al, 1996). According to our study and to known natality, we estimate the minimal live birth prevalence for Slovakian population to 1 in 20,000 for PWS and to 1 in 40,000 for AS; showing that AS is 2 times less frequent than PWS.…”

Section: Discusionmentioning

confidence: 93%

Unusual Spectrum of Genetic Pathologies and Novel Mutations in PWS and as Patients Detected by a Wide Cluster of Methods

Kotysova¹,

Petrovič²,

Chandoga³

2014

OnLine Journal of Biological Sciences

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Prader-Willi and Angelman syndromes are clinically distinct neurodevelopmental genetic disorders that map to 15q11.2-q13 locus. The common phenotypes are attributable to loss of expression of parentally specific imprinted genes inside this region, where the gene function is dependent on parental origin. Initial diagnosis was proved for the years by methylation pattern analyses of the SNRPN exon 1/promoter region within the PWS/AS critical domain. Apart from unifying methylation-specific PCR and allele specific realtime PCR with melt-curve analysis as the fundamental methods for suspected diagnosis confirmation, we combined several specifically methods used to clarify the molecular cause. In our study we had identified and genotyped 24 PWS and AS patients from 450 suspected. Applied cluster of methods-microsatellite analysis of SNPs within the chromosome 15, Methylation-specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA) and UBE3A gene sequence analysis, enable us to determined atypical deletion that does not include common breakpoints, novel highly likely to be pathologic UBE3A mutation, uniparental heterodisomy together with partial isodisomy and epimutation without any deletions in the imprinting centre. We present genotype-phenotype correlation of all positive cases. In addition, we estimate the incidence for Slovakian population at 1 in 20,000 for PWS and 1 in 40,000 for AS.

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Angelman syndrome: Are the estimates too low?

Cited by 79 publications

References 14 publications

The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities

The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities

Angelman syndrome: a review of clinical and genetic aspects

Unusual Spectrum of Genetic Pathologies and Novel Mutations in PWS and as Patients Detected by a Wide Cluster of Methods

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