Angelman Syndrome: Difference between revisions
No edit summary |
(Edits made by original creator; working to still complete the page) |
||
| Line 1: | Line 1: | ||
== Description of Angelman Syndrome == | |||
== Description of Angelman Syndrome | 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 == | |||
Affects approximately 1 in 15,000 individuals (Margolis et al) | |||
== Epidemiology == | == Epidemiology == | ||
* Onset is usually before the age of 3 (Margolis) | |||
* Caused by 4 molecular mechanisms (Kishino) | |||
** 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 (Margolis) | |||
== Clinical Presentation == | == Clinical Presentation == | ||
* Observable Presentation | |||
** Facial features - thin upper lip, wide spaced teeth | |||
** Scoliosis (20% of children, 50% adults) (reference from guidelines) | |||
* Motor Presentation | |||
** Motor dysfunction - tremors, jerkiness, ataxia | |||
* Behavioural Presentation | |||
** 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 | |||
** Seizures (60% of individuals) | |||
** Autism spectrum disorder (ASD), | |||
** Digestive system complications | |||
*** constipation | |||
*** gastroesophageal reflux | |||
== Diagnostic Procedures == | == Diagnostic Procedures == | ||
Patients with Angelman Syndrome are often diagnosed within their first year of life. Diagnosis should be confirmed with genetic testing to determine DNA methylation (Margolis) | |||
== Differential Diagnosis <br> == | == Differential Diagnosis <br> == | ||
Revision as of 21:35, 2 May 2018
Description of Angelman Syndrome[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 (Margolis et al)
Epidemiology[edit | edit source]
- Onset is usually before the age of 3 (Margolis)
- Caused by 4 molecular mechanisms (Kishino)
- 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 (Margolis)
Clinical Presentation[edit | edit source]
- Observable Presentation
- Facial features - thin upper lip, wide spaced teeth
- Scoliosis (20% of children, 50% adults) (reference from guidelines)
- Motor Presentation
- Motor dysfunction - tremors, jerkiness, ataxia
- Behavioural Presentation
- 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
- Developmental delay is normally seen within the first year of life
- Additional Comorbidities that present
- Seizures (60% of individuals)
- Autism spectrum disorder (ASD),
- Digestive system complications
- constipation
- gastroesophageal reflux
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 (Margolis)
Differential Diagnosis
[edit | edit source]
add text here relating to management approaches to the condition
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]
Clinical Guidelines for Angelman Syndrome
[edit | edit source]
Additional Resources
[edit | edit source]
add appropriate resources here
