ANGELMAN SYNDROME
A RARE AND COMPLEX NEURODEVELOPMENTAL CONDITION THAT CAUSES DEVELOPMENTAL
DELAYS, INTELLECTUAL DISABILITIES, SPEECH IMPAIRMENTS AND MOVEMENT ISSUES.
DIAGNOSIS ETIOLOGY
Prenatal ultrasound Caused by issues with a specific gene called UBE3A that
Noninvasive prenatal screening happens during fetal development.
Genetic testing after birth. Mutation on the maternal gene UBE3A
EEG 70 to 75% of cases arise from maternal deletion within
Sleep study (polysomnography). chromosome containing UBE3A gene
2% to 3% can be due to paternal uniparental disomy (UPD)
PROGNOSIS Imprinting center defect.
Normal life expectancy Affects both males and females.
Depends on various factors:
Genetic defect severity.
SIGNS AND SYMPTOMS
Age at diagnosis
Severity of symptoms
Intervention opportunities Characteristic facial
features.
Intellectual disability
ASSESSMENTS Developmental delay
Gross Motor Function Non verbal or very
Measurement (GMFM) limited speech
Gross Motor Function Issues with movement
Classification System (GMFCS) and balance (ataxia)
Gross Motor Performance Seizures (90 % cases)
Measurement (GMPM) Sleep difficulties
Berg Balance Scale Typically have a happy,
Modified Ashworth Scale excitable attitude. They
Timed Up and Go frequently smile, laugh
Vineland adaptive behavioral and make hand-flapping
scale motions.
MSEL: Mullen scales of early Strabismus (vision
learning issues)
Scoliosisand GI issues
INTERVENTIONS
NDT based intervention. REFERENCES
ABA Cleveland Clinic. (2022, April 7). Angelman Syndrome: Causes, Symptoms, Treatment & Outlook.
Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/17978-angelman-syndrome
AAC Dagli AI., Mathews J., Williams CA. (2021, Apr 22). Angelman Syndrome. GeneReviews®. University of
PECS Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1144/
Dall’Alba, L., Gray, M., Williams, G., & Lowe, S. (2014). Early Intervention in Children (0-6 Years) with
Toilet training programs. a Rare Developmental Disability: The Occupational Therapy Role. Hong Kong Journal of Occupational
ADL training- feeding, sleep, play, Therapy, 24(2), 72–80. https://doi-org.proxy01.shawnee.edu/10.1016/j.hkjot.2014.12.001
Sommese, M. & Corrado, B. (2021). A Comprehensive Approach to Rehabilitation Interventions in
social integration, School Patients with Angelman Syndrome: A Systematic Review of the Literature. Neurology International,
13(3), 359–370. https://doi-org.proxy01.shawnee.edu/10.3390/neurolint13030036
Angelman Syndrome Foundation. (n.d.). Physical and occupational therapy best practices, Tips & ...
Sensory Integration https://www.angelman.org/wp-content/uploads/2021/05/PT-OT-Best-Practices-for-AS.pdf
Madaan M. & Mendez MD. (2023, Aug 8). Angelman Syndrome. Stat Pearls Publishing- National
Equipment recommendation Library of Medicine. https://www.ncbi.nlm.nih.gov/books/NBK560870/
Resources for Parents
(ANGELMAN SYNDROME)
HELPFUL GROUPS AND FOUNDATIONS
Angelman Syndrome Foundation (ASF): WHO IS ON MY CARE TEAM?
Provides guidance, parent group support,
videos, podcasts, counselling for parents
and funding information.
https://www.angelman.org Physician
FAST (foundation for Angelman Syndrome Occupational Therapist
therapeutics): Organization that provides Physical therapist
guidance, support, recent research on new Speech and language
technology and treatment. practitioner
https://cureangelman.org Feeding therapist
Neurologist
Opthalomologist
WHAT CAN I DO TO HELP MY Dentist
CHILD ?
Giving any medications as prescribed.
Getting developmental assessments and
physical, occupational and speech HELPFUL BOOKS
therapies.
Ketogenic Diets – by Eric Kossoff
Going to all follow-up medical visits.
MD and John M. Freeman MD
Stay up-to-date with their vaccinations
available on Amazon and Barnes
Regular dental appointments to check
& Noble
teeth erosion due to mouthing, drooling
Ketogenic Diet – A Treatment for
and GERD
Children and Others with
Keep them cool and comfortable
Epilepsy, by John M. MD Freeman
Limiting their time outdoors during hot
available on Amazon and Barnes
weather
& Noble
Encouraging them to drink cold fluids
The Epilepsy Diet Treatment: An
Using fans, water mist, or cool rags to
Introduction to the Ketogenic
provide relief
Diet – by M.D. John Mark
Wearing visors, sunglasses, and UV-
Freeman and Millicent T. Kelly,
protective clothing.
R.D., L.D. available on Amazon
REFERENCES
DUIS, J., NESPECA, M., SUMMERS, J., BIRD, L., BINDELS-DE HEUS, K. G. C. B., VALSTAR, M. J., DE WIT, M.-C. Y., NAVIS, C., TEN HOOVEN-
RADSTAAKE, M., VAN IPEREN-KOLK, B. M., ERNST, S., DENDRINOS, M., KATZ, T., DIAZ-MEDINA, G., KATYAYAN, A., NANGIA, S., THIBERT, R.,
GLAZE, D., KEARY, C., … ANDERSON, A. (2022). A MULTIDISCIPLINARY APPROACH AND CONSENSUS STATEMENT TO ESTABLISH
STANDARDS OF CARE FOR ANGELMAN SYNDROME. MOLECULAR GENETICS & GENOMIC MEDICINE, 10(3), E1843. HTTPS://DOI-
ORG.PROXY01.SHAWNEE.EDU/10.1002/MGG3.1843
