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Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry.

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Title: Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry.
Authors: Tones, M., Cross, M., Simons, C., Napier, K. R., Hunter, A., Bellgard, M. I., Heussler, H.
Source: Journal of Intellectual Disability Research. May2018, Vol. 62 Issue 5, p431-443. 13p. 4 Charts.
Subjects: Angelman syndrome, Caregivers, Reporting of diseases, Research protocols
Abstract: Abstract: Background: Angelman syndrome (AS) is a rare neurodevelopmental disorder affecting between 1 in 15 000 and 1 in 24 000 individuals. The condition results in severe developmental and expressive language delays, motor impairments and a unique behavioural phenotype consisting of excessive laughter, smiling and sociability. While many studies have contributed knowledge about the causes and natural history of the syndrome, large scale longitudinal studies are required to advance research and therapeutics for this rare syndrome. Method: This article describes the protocol for the Global Angelman Syndrome Registry, and some initial findings. Due to the rarity of AS and the variability in symptom presentation, the registry team will strive for complete case ascertainment. Parents and caregivers will submit data to the registry via a secure internet connection. The registry consists of 10 modules that cover patient demographics; developmental, diagnostic, medical and surgical history, behaviour and development, epilepsy, medications and interventions and sleep. Results: Since its launch at https://angelmanregistry.info in September 2016, almost 470 individuals with AS have been signed up to the registry worldwide: 59% are from North and South America, 23% are from Europe, 17% are from the Asia Pacific region and 1% are from the Middle East or Africa. The majority of registrants are children, with only 16% aged over 20 years. Most participants indicated a chromosome deletion (76%), with fewer participants indicating a mutation, uniparental disomy or imprinting defect (20%). Conclusion: Findings indicate a need to consider recruitment strategies that target caregivers of older children and adults, and parents and caregivers from non‐English speaking backgrounds. [ABSTRACT FROM AUTHOR]
Copyright of Journal of Intellectual Disability Research is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry.
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  Data: <searchLink fieldCode="JN" term="%22Journal+of+Intellectual+Disability+Research%22">Journal of Intellectual Disability Research</searchLink>. May2018, Vol. 62 Issue 5, p431-443. 13p. 4 Charts.
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  Data: <searchLink fieldCode="DE" term="%22Angelman+syndrome%22">Angelman syndrome</searchLink><br /><searchLink fieldCode="DE" term="%22Caregivers%22">Caregivers</searchLink><br /><searchLink fieldCode="DE" term="%22Reporting+of+diseases%22">Reporting of diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Research+protocols%22">Research protocols</searchLink>
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  Data: Abstract: Background: Angelman syndrome (AS) is a rare neurodevelopmental disorder affecting between 1 in 15 000 and 1 in 24 000 individuals. The condition results in severe developmental and expressive language delays, motor impairments and a unique behavioural phenotype consisting of excessive laughter, smiling and sociability. While many studies have contributed knowledge about the causes and natural history of the syndrome, large scale longitudinal studies are required to advance research and therapeutics for this rare syndrome. Method: This article describes the protocol for the Global Angelman Syndrome Registry, and some initial findings. Due to the rarity of AS and the variability in symptom presentation, the registry team will strive for complete case ascertainment. Parents and caregivers will submit data to the registry via a secure internet connection. The registry consists of 10 modules that cover patient demographics; developmental, diagnostic, medical and surgical history, behaviour and development, epilepsy, medications and interventions and sleep. Results: Since its launch at https://angelmanregistry.info in September 2016, almost 470 individuals with AS have been signed up to the registry worldwide: 59% are from North and South America, 23% are from Europe, 17% are from the Asia Pacific region and 1% are from the Middle East or Africa. The majority of registrants are children, with only 16% aged over 20 years. Most participants indicated a chromosome deletion (76%), with fewer participants indicating a mutation, uniparental disomy or imprinting defect (20%). Conclusion: Findings indicate a need to consider recruitment strategies that target caregivers of older children and adults, and parents and caregivers from non‐English speaking backgrounds. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Journal of Intellectual Disability Research is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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