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AS is a neurodevelopmental genetic disorder caused by dysfunction in chromosome 15 of the UBIE3A gene.
Common signs and symptoms include motor weakness, expressive language impairment, developmental delay,  maladaptive, unusual behaviors, hyperactivity, frequent laughter and jovial disposition.
Many individuals also present with epilepsy disorder, abnormal EEG, microcephaly, wide mouth with protruding tongue, hypopigmentation of skin and hair, insomnia, pica/oral fixation,fascination with water, gait abnormalities and ataxia (Noggle, 2011, para. 1).

ICD 10: Q93.51 (Furfaro, 2018).

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Text from Encyclopedia of NeuroPsy Dis- Angelman

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AS is thought to occur in 1 out of 12,000-20,000 births. AS effects children and adults of all nationalities, races, genders, and socioeconomic backgrounds (Corrado & Sommese, 2021, para. 2).

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There is an "established criteria that identifies four clinical characteristics of AS, which are: developmental delay, movement disorder, behavioral uniqueness, and speech impairment. Final diagnosis is based on both clinical features and molecular genetic testing" (Noggle, 2011, para. 9).
Genetic blood testing can identify up to 85% of AS cases (Angelman Today, 2021, What is Angelman Syndrome?). Up to 70% of AS is due to deletion of maternal chromosome 15q11.2-15q13 (Noggle, 2011, para. 3).

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Significant Impact on Performance Skills:

Motor Skills (movement disorder)

Process Skills (effect of developmental delay, epilepsy)

Social Interaction (expressive language impairment)

Client Factors contribute to impact on function:

Mental Functions

Global Mental Functions

Sensory Functions

Neuromusculoskeletal & Movement-Related Functions

Voice and Speech functions- "Though most individuals lack speech entirely, some who are mildly affected can aquire a few words. Receptive language is less impaired (Corrado & Sommese, 2021, p. 360).

Skin Functions

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70% of AS cases are characterized by deficient production of Ube3a proteins which are important part of maintaining normal levels of GABA. The GABA neurotransmitter is known to help maintain an inhibitory tone in the brain. Circuit hyperexcitability in pyramidal neurons of the neocortex have been observed in AS mouse models with the UBE3a gene variation (Samanta, 2021, p. 33).

The other 30% of AS cases do not have this gene expression. It is hypothesized that this is related to the ubiquitin pathway.

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Difference between Angelman and Prader-Willi Syndromes

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Dr.G Bhanu Prakash Animated Medical Videos

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Angelman Syndrome : Pathology and Genetics

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80-90% of individuals with AS develop Epilepsy typically between 1-3 years and more than 95% experience daily seizures during childhood.

Seizure types include:

Generalized myoclonic, tonic-clonic, atonic and atypical absence

Focal partial

Fever induced/febrile seizure

Status epilepticus (a seizure lasting over 5 minutes)

Infantile spasms

(Samanta, 2021, p. 34).

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The common behavioral disposition of AS is "'hyperexcitability' accompanied by laughing, grabbing, and pulling at others, as well as excessive oral stimulation"(Baranek & Walz, 2006, p. 2); many individuals exhibit a fascination with water, novel textures, reflective surfaces, and noisy toys.
The sensory profile of an individual with AS is typically hypo-responsive with sensory seeking behavior. In a study of 340 persons with AS Baranek & Walz (2006) family caregivers were given the Sensory Processing Questionare (SEQ) to examine patterns of sensory profiles within the sample. Significant findings included hypo-responsiveness to tactile, proprioceptive, and vestibular input which are consistent with the sensory seeking behavior prevalent within the population. Interestingly, hyperresponsivity avoidant behaviors were also noted especially with bathing and grooming (p. 4).

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Video on Sensory Processing Disorder with AS

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Video on Sensory Processing Disorder with AS

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Characteristics of Sensory Processing Disorder specifically related to Angelman Syndrome

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Generalist and Specialty Physicians (Neurologist)
Physical Therapy
Occupational Therapy
Speech Language Pathology
Teachers and Paraprofessionals
Nursing Team
Social Worker
Families and Caregivers
Friends & Peers

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TUG, Functional Reach Test

Assessment of Motor and Process Skills- AMPS

COPM

Sensory Profile

Sensorimotor Integration Inventory- Revised

Sensory Experiences Questionnaire

Knox Preschool Play-Scale- Revised

Test of Nonverbal Intelligence, 4th ed.

BBS (modified pediatric balance scale)

Peabody Developmental Motor Scales II (PDMSII)

VMI- Motor Coordination

ABI- Adaptive Behavior Inventory

WISC-IV

(Reed, 2014, p. 100-101, 161).

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Focus on:

Motivation

Adaptation of Environment

Adaptations for Play/Leisure

Early Intervention for positioning to promote stabilization and balance

Strengthening and Flexibility

Non-verbal communication and high/low tech augmentive-alternative communication

Facilitation of movement for emergence of gross and fine motor skills

Sensory Integration

Splinting/Orthotics; AFO vs Spiral Orthosis

Home and Environmental Safety

Family and Caregiver Education

ADL/Self Care Activities

Functional Mobility

Sleep Hygiene

(Angelman Syndrome Foundation, 2021).

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1. Dr. Harry Angelman first described Angelman Syndrome in:
a) 1950
b)1984
c)1965
d)1924

2. Where does the majority of genetic abnormality occur with Angelman Syndrome?
a) Maternal Chromosome 12
b) Paternal Chromosome 15
c) Paternal Chromosome 17
d) Maternal Chromosome 15

3. The most common sensory profile for individuals with Angelman Syndrome is:
a) Sensory Seeking
b) Sensory Avoiding
c) Low Registration
d) Sensory Sensitivity

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1. c)1965
2. d) Maternal Chromosome 15
3. a) Sensory Seeking

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Importance of:

Psychosocial Impact

Energy Regulation

Behavior Management

Sleep Hygiene

Opportunities and Inclusion

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Life with Angelman Syndrome: Maintaining Hope | Ovid

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American Occupational Therapy Association. (2020). Occupational therapy practice framework; Domain and process (4th ed.).

Angelman Syndrome Foundation. (2021). Physical and Occupational therapy best practices, tips & tricks, equipment and resources for those living with Angelman syndrome. https://www.angelman.org/wp-content/uploads/2021/05/PT-OT-Best-Practices-for-AS.pdf

Angelman Today. (2016, January 18). History of Angelman syndrome- english [Video]. YouTube. https://www.youtube.com/watch?v=CRwmz8ltB_g

Angelman Today. (2021). What is Angelman syndrome? https://www.angelmantoday.com/angelman-syndrome/

AngelmanUK. (2017, August 1). Epilepsy & Angelman syndrome - ASSERT [Video]. YouTube. https://www.youtube.com/watch?v=kiFZ7AFwW14

Baranek, G. T. & Walz, N. C. (2006). Sensory processing patterns in persons with Angelman syndrome. American Journal of Occupational Therapy, 60(4). DOI: 10.5014/ajot.60.4.472

Corrado, B. & Sommese, M. (2021). A comprehensive approach to rehabilitation interventions in patients with Angelman syndrome: A systematic review of the literature. Neurology International, 13, 359-370. https://doi.org/10.3390/neurolint13030036

Dr.G Bhanu Prakash Animated Medical Videos. (2019, May 15). Angelman syndrome: Pathology and genetics [Video]. YouTube. https://www.youtube.com/watch?v=wLP8GhfIcNM&t=8s

Furfaro, H. (2018, August 15). New diagnostic code for Angelman syndrome may spark crucial research. Spectrum News. https://www.spectrumnews.org/news/new-diagnostic-code-angelman-syndrome-may-spark-crucial-research/

Noggle, C. (2011). Angelman Syndrome in C. Noggle (Ed.). The encyclopedia of neuropsychological disorders. Springer Publishing Company.

Ovid Therapeutics. (2018, July 10). Life with Angelman syndrome: Maintaining hope - Ovid [Video]. YouTube. https://www.youtube.com/watch?v=QeD6lAF9lHE

Reed, K. L. (2014). Quick reference to Occupational Therapy (3rd edition). Pro-Ed.

Samanta, D. (2021). Epilepsy in Angelman syndrome: A scoping review. Brain & Development, 43, 32-44. https://doi.org/10.1016/j.braindev.2020.08.014

Special Books by Special Kids. (2017, July 31). A friends with Angelman syndrome [Video]. YouTube. https://www.youtube.com/watch?v=hjrO6wpnhqI&t=31s

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Dr. Harry Angelman first described AS in 1965. First coined as "Happy Puppet" Syndrome and naming individuals as "Puppet Children" due to behavioral phenotype and unusual motor patterns of arms and legs resembling a marionette. The name has since been changed and these descriptors are no longer used.