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Kabuki Syndrome
Transcript
Description
- Genetic
- Facial characteristics
- Intellectual disability
- Skeletal problems
- Organ malformations
- Urinary tract infections
- Epilepsy
- Autism Spectrum
Behavioral Manifestations
- Autistic-like behaviors:
- Difficulty with changes in routine
- Trouble with peers
- Repetitive actions
Impact on Behavior
Impact on Communication
- Tantrums
- Isolation
- Eye problems
- Inattentive behaviors
- Self-stimulation behaviors
- Self-injurious behaviors
- Oral stimulation
- Play behaviors
- Receptive language
- Expressive language
- Echolalia
Frequency/Incidence
How did Kabuki Syndrome come about?
Kabuki Syndrome
- 1/32,000
Athanasia Svenning
Erika Vargas
Behavioral Recommendations
- Social interaction
- Role Play
- Structured Games
- ‘1–2–3 Magic’ Technique
- Positive Reinforcement
- https://www.pinterest.com/pin/186266134563024847/
Kabuki Syndrome Key Points
- Genetic syndrome
- 1/32,000 effected
- Autistic-like Behavior
- Inattentiveness
- Expressive language
- Social interaction
Works Cited
- Bodur, S., Karaer, K., Sari, B.A., & Soysal, A.S.(2007). Case Report: Autistic Disorder in Kabuki Syndrome. Springer Science+Business Media (38), 198-201. DOI: 10.1007/s10803-007-0433-x.
- Bogershausen, N. & Wollnik, B. (2012). Unmasking Kabuki Syndrome. An International Journal of Genetics, Molecular and Personalized Medicine,(83), 201-211. DOI: 10.1111/cge.12051.
- Dillenburger, K. & McPhilemy, C., (2013). Parents' experiences of applied behavior analysis (ABA)-based interventions for children diagnosed with autistic spectrum disorder. British Journal of Special Education, 40(4), 154-162. DOI: 10.1111/1467-8578.12038.
- Fox, J.E. & Kasdon, B.D. (2012). Kabuki syndrome: diagnostic and treatment considerations. US National Library of Medicine National Institutes of Health. 171-179. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3622909/.
- Roncaglia, I. (2014). Working With People With Autistic Spectrum Conditions: A Single Case Study. Psychological Thought, 7(1), 93-101. DOI: 10.5964/psyct.v7i1.85.
- (2013). Kabuki syndrome. Retrieved February 8, 2015, from http://ghr.nlm.nih.gov/condition/kabuki-syndrome.
- (2014). Behavior and Sensory Support. Retrieved February 8, 2015, from http://www.gemssforschools.org/conditions/Kabuki/behavior-sensory-supports.
- (2015). Atrial septal defect (ASD). Retrieved February 6, 2015, from http://www.mayoclinic.org/diseases-conditions/atrial-septal-defect/basics/definition/con-20027034.
- (2015). Coarctation of the aorta. Retrieved February 6, 2015, from http://www.mayoclinic.org/diseases-conditions/coarctation-of-the-aorta/basics/definition/con-20031772.
- (2015). Ventricular septal defect (VSD). Retrieved February 6, 2015, from http://www.mayoclinic.org/diseases-conditions/ventricular-septal-defect/basics/definition/con-20024118.
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