Via Research Recognition Day Program VCOM-Carolinas 2025
Case Reports
A Voice for those without Their Own: A Case Study about the Power of Communication Technology in Rubinstein Taybi Syndrome Emily Schroeder and Nicole Ryan, VCOM-Carolinas OMS-II, Dr. Christina Samaan Beattie D.O. . Introduction Discussion Diagnostic Testing
Rubinstein-Taybi Syndrome (RSTS) is a genetic disorder seen in 1 in 100,000 newborns with distinct physical features, intellectual disability, psychosocial challenges and systemic manifestations. The associated developmental delay and difficulty with verbal communication hinders participation within society and negatively impacts patients’ health outcomes. Methods used to address the communication barrier often associated with RSTS can be applied to similarly presenting developmental disabilities, including autism spectrum disorder (ASD).
Conclusion This case study illustrates that communication technology can serve as a vital tool for those with Rubinstein-Taybi Syndrome, fostering empowerment, social integration, and improved quality of life. By advocating for increased accessibility to these technologies, we can give a voice to those who have historically been unheard, thereby promoting inclusivity and understanding for those patients. ● We are aiming to bring awareness to how beneficial this technology can be for patients, caregivers, and family members in efforts to increase its accessibility. ● There is ample research regarding communication technology for Research has been done evaluating communication technology for ASD, but studies related to RSTS are limited ● The National Center for Autism Evidence and Practice recognizes augmentative and alternative communication as an "evidence-based practice.” ● Literature supports significant aid for cognitive and social development, which is crucial for delivering optimal care. ● A study assessing the quality of life in RSTS 2 patients revealed physical and social functioning were notably low. ● The patient's caregiver states “people with limited verbal ability have a hard time communicating when they feel sick, anxious, or upset”
● Genetic testing (FISH analysis) in January of 2000 (1 mo. old) ● Cranial sonogram on 2/4/2000 (1 m.o) ● Brain MRI on 12/3/2003 (3 y.o) ● EEG on 11/10/2004 (4 y.o) ● Head CT on 3/8/2005 (5 y.o) ● Video EEG monitoring in May of 2005 (5 y.o) ● Sleep study on 3/28/2006 (6 y.o) ● Neuropsychiatric Evaluation on 7/17/2006 assessing the developmental, psychosocial, neurological, and academic progress of the patient.
Patient Presentation and Findings
. Condition on Presentation & Pertinent Past Medical History ● Initially “limp and blue;” immediately responded well to resuscitation ● Was intubated, remained on ventilator for 24 hours, and was in good condition by day 3 ● Concerning Findings in the NICU ■ Wide thumbs and toes that do not angulate ■ High arched palate ■ Dimples on ears ■ Birthmark on base of spine ■ Low lying conus ● Strabismus, diplopia, farsightedness ● Patent Ductus Arteriosus, vascular ring, double aortic arch, bicuspid aortic valve ● Disordered sleep breathing ● Tethered spinal cord Figure 1. Birthmark on Base of Spine This report discusses a 24 year old caucasian female born on 1/15/2000 to two unaffected parent with Rubinstein Taybi Syndrome and associated diagnoses of Cerebral Palsy with associated hypotonia and Autism spectrum disorder.
Figure 3 and 4. Screenshots of Pro Lo Quo Software
Treatment and Intervention
● 2000 (6 mo.): Heart surgery for PDA; correction of vascular ring, double aortic arch ● 2000 (1 y.o), 2005 (5 y.o): Two corrective eye muscle surgeries ● 2006 (6 y.o): tonsillectomy with adenoidectomy ● 2015 (15 y.o): surgery addressing tethered spinal cord ● Multiple medications to address some of the symptoms associated with her syndrome ■ Oral contraceptives, Prozac, Concerta, Guanfacine
References
● Communication Devices ○ “Mini Mo” device ○ Transition to Augmentative Alternative
1. Hsiung, S. H. (2004). Rubinstein-Taybi syndrome (broad thumb-hallux syndrome). Dermatology Online Journal, 10(3). http://dx.doi.org/10.5070/D37xm3p7nf Retrieved from https://escholarship.org/uc/item/7xm3p7nf 2. Iacono, T., Trembath, D., & Erickson, S. (2016). The role of augmentative and alternative communication for children with autism: current status and future trends. Neuropsychiatric Disease and Treatment, 12, 2349–2361. https://doi.org/10.2147/NDT.S95967 3. Rozensztrauch A, Basiak A, Twardak I. Rubinstein-Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning. J Clin Med. 2024 Sep 2;13(17):5210. doi: 10.3390/jcm13175210. PMID: 39274423; PMCID: PMC11396274. 4. Sala, R., Amet, L., Blagojevic-Stokic, N., Shattock, P., & Whiteley, P. (2020). Bridging the Gap Between Physical Health and Autism Spectrum Disorder. Neuropsychiatric Disease and Treatment, 16, 1605–1618. https://doi.org/10.2147/NDT.S251394 5. Zhao J, Zhang X, Lu Y, Wu X, Zhou F, Yang S, Wang L, Wu X, Fei F. Virtual reality technology enhances the cognitive and social communication of children with autism spectrum disorder. Front Public Health. 2022 Oct 6;10:1029392. doi: 10.3389/fpubh.2022.1029392. PMID: 36276341; PMCID: PMC9582941.
● Developmental delay ○ Sitting without support at 12 months ○ Walking with walker at 36 months ○ Walking independently at 48 months
Figure 2. Broad Thumb
Full Report of Case
Communication (AAC) device ● iPad with Pro Lo Quo software ○ Speech Therapy
Figure 5. Homescreen of Pro Lo Quo
● Nonverbal communication style
2025 Research Recognition Day
95
Made with FlippingBook - professional solution for displaying marketing and sales documents online