Angelman Syndrome by Jessica Carmichael https://padlet.com/jessicasinging/ydxtsord8wh1devu Made with an abundance of love en-us 2021-11-26 02:07:24 UTC 2025-01-31 20:42:48 UTC hello@padlet.com What is Angelman Syndrome? jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919443129 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).]]> 2021-11-30 02:55:53 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919443129 Prevalence jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919481348 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).]]> 2021-11-30 03:22:42 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919481348 Diagnosis and Genetic Testing jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919498430 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). ]]> 2021-11-30 03:34:00 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919498430 Performance Skills and Client Factors jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919501466 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



]]> 2021-11-30 03:36:09 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919501466 Influence of Genetics on Brain jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919502134 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.]]> 2021-11-30 03:36:35 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919502134 Video: Pathology and Genetics jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919534431 Difference between Angelman and Prader-Willi Syndromes]]> 2021-11-30 04:00:08 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919534431 Video: Epilepsy jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919540661 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).

]]> 2021-11-30 04:05:13 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919540661 Sensory Processing jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919559834 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).


]]> 2021-11-30 04:21:31 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919559834 Video on Sensory Processing Disorder with AS jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919561370 2021-11-30 04:22:54 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919561370 Members of the Team jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919607302 Generalist and Specialty Physicians (Neurologist)
Physical Therapy
Occupational Therapy
Speech Language Pathology
Teachers and Paraprofessionals
Nursing Team
Social Worker
Families and Caregivers
Friends & Peers

]]> 2021-11-30 05:04:33 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919607302 Common Assessment Tools by OT jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919626605
  • 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).
    ]]>     2021-11-30 05:23:48 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919626605     OT Interventions jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919646206 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).
    ]]>     2021-11-30 05:44:13 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919646206     jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919681774 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


    ]]>     2021-11-30 06:18:05 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919681774     Answer Key jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919683240 1. c)1965
    2. d) Maternal Chromosome 15
    3. a) Sensory Seeking

    ]]>     2021-11-30 06:19:20 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919683240     Caregiver Perspectives jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919693983 Importance of:
    • Psychosocial Impact 
    • Energy Regulation
    • Behavior Management
    • Sleep Hygiene 
    • Opportunities and Inclusion
    ]]>     2021-11-30 06:29:11 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919693983     jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919755787 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


    ]]>     2021-11-30 07:17:16 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1919755787     History: Dr. Harry Angelman jessicasinging https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1921418457 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.]]> 2021-11-30 21:08:43 UTC https://padlet.com/jessicasinging/ydxtsord8wh1devu/wish/1921418457