Angelman Syndrome: Difference between revisions

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== Prevalence  ==
== Prevalence  ==


Affects approximately 1 in 15,000 individuals<ref name=":0">Margolis SS, Sell GL, Zbinden MA, Bird LM. Angelman syndrome. Neurotherapeutics. 2015 Jul 1;12(3):641-50. [http://dx.doi.org/10.1007/s13311-015-0361-y]</ref>  
Affects approximately 1 in 15,000 individuals<ref name=":0">Margolis SS, Sell GL, Zbinden MA, Bird LM. Angelman syndrome. Neurotherapeutics. 2015 Jul 1;12(3):641-50. http://dx.doi.org/10.1007/s13311-015-0361-y</ref>  


== Epidemiology  ==
== Epidemiology  ==
* Onset is usually before the age of 3 <ref name=":0" />
* Onset is usually before the age of 3 <ref name=":0" />
* Caused by 4 molecular mechanisms <ref>Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nature genetics. 1997 Jan;15(1):70.</ref>
* Caused by 4 molecular mechanisms <ref>Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nature genetics. 1997 Jan;15(1):70. http://dx.doi.org/10.1038/ng0197-70</ref>
** Maternal deletions of chromosome 15q11-q13 (70-80%)
** Maternal deletions of chromosome 15q11-q13 (70-80%)
** Intragenic mutation in maternally inherited UBE3A which is found in chromosome 15q11-q13 (10-20%)
** Intragenic mutation in maternally inherited UBE3A which is found in chromosome 15q11-q13 (10-20%)
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* '''Observable Presentation'''                                                                                                                                                                                                                                                                       
* '''Observable Presentation'''                                                                                                                                                                                                                                                                       
** May present with facial features - thin upper lip, wide spaced teeth<ref name=":0" />
** May present with facial features - thin upper lip, wide spaced teeth<ref name=":0" />
** Scoliosis (20% of children/50% adults) <ref>Angelman Syndrome Guideline Development Group. Management of Angelman Syndrome: A Clinical Guideline Version:1. University of Manchester, 2010.</ref>
** Scoliosis (20% of children/50% adults) <ref>Angelman Syndrome Guideline Development Group. Management of Angelman Syndrome: A Clinical Guideline Version:1. University of Manchester, 2010. https://www.orpha.net/data/patho/Pro/en/AngelmanGuidelines2011.pdf (Accessed 2 May 2018)</ref>
* '''Motor Presentation'''<ref name=":0" />
* '''Motor Presentation'''<ref name=":0" />
** tremors, jerkiness, and ataxia  
** tremors, jerkiness, and ataxia  
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*** gastroesophageal reflux
*** gastroesophageal reflux


* '''Changes in Presentation with age'''<ref>Genetics Home Reference. Angelman Syndrome. <nowiki>https://ghr.nlm.nih.gov/condition/angelman-syndrome</nowiki> (accessed 2 May 2018)</ref>:
* '''Changes in Presentation with age'''<ref>Genetics Home Reference. Angelman Syndrome. https://ghr.nlm.nih.gov/condition/angelman-syndrome (accessed 2 May 2018)</ref>:
** As individuals with Angelman Syndrome age they often become less excitable but continue to have intellectual disability, difficulty with speech, and seizures throughout their lives (Genetics Home Reference, 2015).
** As individuals with Angelman Syndrome age they often become less excitable but continue to have intellectual disability, difficulty with speech, and seizures throughout their lives (Genetics Home Reference, 2015).


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Patients with Angelman Syndrome are often diagnosed within their first year of life. Diagnosis should be confirmed with genetic testing to determine DNA methylation <ref name=":0" />
Patients with Angelman Syndrome are often diagnosed within their first year of life. Diagnosis should be confirmed with genetic testing to determine DNA methylation <ref name=":0" />


== Differential Diagnosis <br> ==
== Differential Diagnosis   ==
{| class="wikitable sortable"
|+Table 1: Common Differential Diagnoses for Angelman Syndrome <ref>Foundation for Angelman Syndrome Therapeutics. Common Misdiagnoses. https://cureangelman.org/understanding-angelman/differential-diagnosis. (Accessed 6 May 2018)</ref>
!Differential Diagosis
!Key Shared Features with AS
!Key Distinguishing Features
|-
|Prader-Willi Syndome
|Developmental delays
| -Extreme feeding problems
-More severe behavioural symptoms such as obsessive-compulsive symptoms
|-
|Rett Syndrome
|Developmental delays, intellectual disability, speech impairment, seizures
| -Seen only in females.
-Stereotypical hand movements


add text here relating to management approaches to the condition<br>  
-Apraxia is more severe with loss of mobility in later stages
|-
|Mowat-Wilson Syndrom
|Delayed motor development, intellectual disability, epilepsy
| -Distinct facial features
-Intestinal complications
|-
|Pitt-Hopkins Syndrome
|Happy disposition, speech impairments
| -Distinctive hand and facial features
-Self-aggression and violent outbursts
|}
<br>  


== Outcome Measures <br>  ==
== Outcome Measures <br>  ==
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Canadian Angelman Syndrome Society:   
Canadian Angelman Syndrome Society:   
* Visit their webpage here [https://www.angelmancanada.org/]
* Visit their webpage here: https://www.angelmancanada.org/  
FAST: Foundation of Angelman Syndrome Therapeutics  
FAST: Foundation of Angelman Syndrome Therapeutics  
* Visit their webpage here [https://cureangelman.org/]
* Visit their webpage here: https://cureangelman.org/


== References  ==
== References  ==


<references />
<references />

Revision as of 23:53, 6 May 2018

Original Editor - Hannah Angermann, Michelle Griffin, Emily Locker

Top Contributors - Hannah Angermann, Kim Jackson, Mande Jooste, Shaimaa Eldib, Rucha Gadgil, Meaghan Rieke, Kirenga Bamurange Liliane and Aminat Abolade  

Description of Angelman Syndrome *note: this is a student project that is still being completed[edit | edit source]

Complex genetic disorder affecting the nervous system. It is characterized by severe learning difficulties, motor dysfunction, seizure disorder, and often a happy, sociable disposition.

Prevalence[edit | edit source]

Affects approximately 1 in 15,000 individuals[1]

Epidemiology[edit | edit source]

  • Onset is usually before the age of 3 [1]
  • Caused by 4 molecular mechanisms [2]
    • Maternal deletions of chromosome 15q11-q13 (70-80%)
    • Intragenic mutation in maternally inherited UBE3A which is found in chromosome 15q11-q13 (10-20%)
    • Paternal uniparental disomy (UPD) in chromosome 15q11-q13 (3-5%)
    • Imprinting defects in chromosome 15q11-q13 which change the expression of  UBE3A (3-5%)
  • Those with deletion have more severe disease and those with UPD and imprinting have less severe defects [1]

Clinical Presentation[edit | edit source]

Video created by Foundation of Angelman Syndrome (FAST), Australia

  • Observable Presentation
    • May present with facial features - thin upper lip, wide spaced teeth[1]
    • Scoliosis (20% of children/50% adults) [3]
  • Motor Presentation[1]
    • tremors, jerkiness, and ataxia
    • Loss of balance and wide-based gait
  • Behavioural Presentation[1]
    • Developmental delay is normally seen within the first year of life
      • most patients lack speech completely but those mildly affected can speak a few words
    • Severe intellectual disability
    • Hyperactivity and short attention span
    • Mouthing of objects
    • Happy demeanor with increased laughter, and often an attraction to water
  • Additional Comorbidities that present[1]:
    • Seizures (60% of individuals)
    • Autism spectrum disorder (ASD),
    • Digestive system complications
      • constipation
      • gastroesophageal reflux
  • Changes in Presentation with age[4]:
    • As individuals with Angelman Syndrome age they often become less excitable but continue to have intellectual disability, difficulty with speech, and seizures throughout their lives (Genetics Home Reference, 2015).

Diagnostic Procedures[edit | edit source]

Patients with Angelman Syndrome are often diagnosed within their first year of life. Diagnosis should be confirmed with genetic testing to determine DNA methylation [1]

Differential Diagnosis[edit | edit source]

Table 1: Common Differential Diagnoses for Angelman Syndrome [5]
Differential Diagosis Key Shared Features with AS Key Distinguishing Features
Prader-Willi Syndome Developmental delays -Extreme feeding problems

-More severe behavioural symptoms such as obsessive-compulsive symptoms

Rett Syndrome Developmental delays, intellectual disability, speech impairment, seizures -Seen only in females.

-Stereotypical hand movements

-Apraxia is more severe with loss of mobility in later stages

Mowat-Wilson Syndrom Delayed motor development, intellectual disability, epilepsy -Distinct facial features

-Intestinal complications

Pitt-Hopkins Syndrome Happy disposition, speech impairments -Distinctive hand and facial features

-Self-aggression and violent outbursts


Outcome Measures
[edit | edit source]

add text here relating to the differential diagnosis of this condition

Physiotherapy Management and Treatment
[edit | edit source]

text here

Additional Treatment[edit | edit source]

  1. Occupational therapy:
    • Play a key role in treating fine motor skills, and self management skills to perform activities of daily living.
  2. Speech Language Pathology
    • Play a key role in treating difficulties with both communication and swallowing.

Clinical Guidelines for Angelman Syndrome[edit | edit source]

For more detailed information on the treatment of Angelman Syndrome across several health care providers, clinical guidelines have been created by the Angelman Syndrome Guideline Development Group. Visit their document here [1].

Additional Resources[edit | edit source]

CASS Logo.png

Canadian Angelman Syndrome Society:

FAST: Foundation of Angelman Syndrome Therapeutics

References[edit | edit source]

  1. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 Margolis SS, Sell GL, Zbinden MA, Bird LM. Angelman syndrome. Neurotherapeutics. 2015 Jul 1;12(3):641-50. http://dx.doi.org/10.1007/s13311-015-0361-y
  2. ↑ Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nature genetics. 1997 Jan;15(1):70. http://dx.doi.org/10.1038/ng0197-70
  3. ↑ Angelman Syndrome Guideline Development Group. Management of Angelman Syndrome: A Clinical Guideline Version:1. University of Manchester, 2010. https://www.orpha.net/data/patho/Pro/en/AngelmanGuidelines2011.pdf (Accessed 2 May 2018)
  4. ↑ Genetics Home Reference. Angelman Syndrome. https://ghr.nlm.nih.gov/condition/angelman-syndrome (accessed 2 May 2018)
  5. ↑ Foundation for Angelman Syndrome Therapeutics. Common Misdiagnoses. https://cureangelman.org/understanding-angelman/differential-diagnosis. (Accessed 6 May 2018)
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