Information for the Speech-Language Pathologist
What is it?
Also called: Broad Thumb-Hallux Syndrome, RSTS
What causes RTS?
Still, about half of diagnosed cases of RTS have an unknown cause (i.e., no genetic mutations or deletions).
In most cases, the condition is not inherited but rather is due to genetic defects in sperm or egg cells at the time of conception. It is rare for more than one child per family to be diagnosed with RTS.
What are the Signs & Symptoms of RTS?
A meta-analysis of 732 cases of RTS found the following:
Common developmental characteristics:
- Developmental delay: slow cognitive and motor development; low tone
- Intellectual disability (IQ range <50 in 73% of cases)
Common physical characteristics:
- Abnormal growth patterns, short stature
- Broadening of thumbs and big toes
- Downward-slanted eyes
- Low-set or malformed ears
- Micro- or macrocephaly
- "Beaked" nose
- Narrow mouth, high arched palate, crowded teeth
- Skin conditions
- Heart defects
- Gastrointestinal abnormalities
Other complications associated with these symptoms include:
- Frequent ear infections and hearing loss
- Feeding problems in infancy
- Poor coordination
- Heart complications and cerebral infarcts
Currently, no standard diagnostic criteria exist for RTS. Blood tests and x-rays in conjunction with genetic testing can help determine if a child meets the criteria for a diagnosis of RTS.
Image: (above, right) typical presentation of RTS; Source: Google Images
Can it be treated?
Images (below): illustrations of common facial characteristics associated with RTS; large broad thumb common in children with RTS; Source: Google Images
Language & Learning
- Both speech and language skills emerge more slowly in individuals with RTS due to developmental delay. Craniofacial features usually do not affect articulation.
- Most children with RTS have limited receptive vocabulary consistent with their full scale IQ. School-aged children may have difficulty understanding complex syntax or abstract concepts.
- Expressive language is a relative weakness. These individuals often have limited verbal output (i.e., below-average MLU, limited use of complex syntax and morphology). Some are nonverbal.
- Social communication is typically not impaired. Children with RTS are able to use whatever language they have to interact with others, although they may be perceived as acting young for their age.
In general, developmental and cognitive delays cause the greatest language difficulties. Cantani and Dagliesi (1998) found in a meta-analysis that, on average, children with RTS spoke their first word around 25 months and first combined words into 3-word phrases around 65 months.
Students who are nonverbal or who have limited verbal output might require the use of augmentative and/or alternative communication (AAC; see below).
Frequent ear infections leading to hearing impairment can also impact language learning if not remediated.
Home & Classroom Strategies
In the classroom, the principles of Universal Design for Learning (UDL), i.e., multiple means of representation, engagement, and expression, are important. Teachers and SLPs should present information--and allow students to respond--in a variety of ways. Parents can do similar things at home.
A few strategies to facilitate language and communication for children with RTS include:
- Using visual/verbal prompts and picture supports to help students focus and stay on task, or complete a sequenced activity
- Giving short, concise verbal instructions, with important information at the beginning of the sentence to facilitate comprehension
- Reading books--don't neglect literacy! Books may be modified to facilitate comprehension
- Using preferential seating for students with attention deficits or hearing loss
- Using communication temptations to encourage language (see 'Tools for the SLP' below)
Generally, children with RTS have no problem interacting with peers, so the SLP can use other students to model and encourage language in social contexts. These children may require special classroom accommodations such as extended test time.
Tools for the SLP
Children with RTS typically have developmental delays, which include language. Elementary-aged students with RTS may still be in the language learning phase, so the SLP may use a total/whole language approach, incorporating pictures, text, verbal language, AAC, and even sign language into therapy. Some goals include:
- Expanding vocabulary (receptive and expressive)
- Increasing syntactic/morphological complexity (receptive and expressive)
- Increasing utterance length
- Helping children with restricted attention span stay focused (joint attention, maintaining concentration)
Some basic strategies the SLP might use in targeting these goals include:
- Using communication temptations or time delays (waiting for a child to attempt communication before continuing an activity or providing a desired item)
- Offering choices rather than asking open-ended questions will help children with receptive language impairments.
- Working with the child in the classroom to encourage social communication with peers in a natural environment. This is as much a learning experience for the typically-developing students as it is for the student with RTS! Use the academic curriculum as much as possible.
Therapy should start with a goal on which all activities are based; not the other way around. Check out this IEP goal bank (look specifically at "auditory processing," "language," and "augmentative communication"). Also, click here for more information in a Google doc.
FOR The SLP
Outlines the knowledge and skills required by the SLP serving populations with intellectual and developmental disabilities (which includes RTS)
Answers FAQs about treating communication in individuals with severe intellectual and developmental disabilities
Advocates for SLPs to understand the basics of genetic disorders and how they influence communication. Provides list of resources on genetics medicine and research
Designed for health care professionals; gives background information on RTS and lists research databases
Includes basic information, parent resources and support, and biographies of individuals with RTS
Designed to connect parents of children with rare diseases; provides information and allows parents to submit research requests
Posts resources and other events for the RTS community and families
Contains research references for RTS, as well as lists of organizations supporting RTS
Lists organizations that provide information and/or services and support to families of children with Rubenstein-Taybi syndrome
Helpful Research Articles
Galéra, C., Taupiac, E., Fraisse, S., Naudion, S., Toussaint, E., Rooryck-Thambo, C., ... Bouvard, M.P. Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome. Journal of Autism and Developmental Disorders, 39, 1252-1260.
Hennekam, R. M., Baselier, A. A., Beyaert, E., Bos, A., Blok, J. B., Jansma, H. M., & ... Veerman, H. (1992). Psychological and Speech Studies in Rubinstein-Taybi Syndrome. American Journal on Mental Retardation, 96(6), 645-660
Kumar, S., Suthar, R., Panigrahi, I., & Marwaha, R.K. (2012). Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature. Indian Journal of Human Genetics, 18(2), 161-166.
Milani, D., Manzoni, F.M., Pezzani, L., Ajmone, P., Gervansini, C., Menni, F., & Esposito, S. (2015). Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management. Italian Journal of Pediatrics, 41(4). doi: 10.1186/s13052-015-0110-1
Rubinstein, J. H., & Taybi, H. (1963). Broad thumbs and toes and facial abnormalities: A possible mental retardation syndrome. American Journal of Diseases of Children, 105, 588–608
American Speech-Language-Hearing Association. (2005). Knowledge and skills needed by speech-language pathologists serving persons with mental retardation/developmental disabilities: Knowledge and skills. Retrieved from www.asha.org/policy.
American Speech-Language-Hearing Association. (2005). What does the SLP or audiologist need to know about genetics when conducting assessments? Retrieved from http://www.asha.org/academic/questions/Genetics-Education/#_ga=1.183378671.878870739.1425442183.
Baxter, S., Enderby, P., Evans, P., & Judge, S. (2012). Barriers and facilitators to the use of high-technology augmentative and alternative communication devices: a systematic review and qualitative synthesis. International Journal of Language & Communication Disorders, 47(2), 115-129. doi:10.1111/j.1460-6984.2011.00090.x
Genetics Home Reference. (2007). Rubenstein-Taybi syndrome. Retrieved from http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome.
Madisons Foundation. (2005). Rubenstein-Taybie syndrome. Retrieved from http://madisonsfoundation.org/index.php?option=com_mpower&task=disease&diseaseID=590.
Mervine, P. IEP goal bank. Retrieved from http://www.speakingofspeech.com/IEP_Goal_Bank.html.
Millar, D. C., Light, J. C., et al. (2006). The impact of augmentative and alternative communication intervention on the speech production of individuals with developmental disabilities: A research review. Journal of Speech, Language, and Hearing Research , 49 (2), 248-264.
National Organization for Rare Disorders. (2004). Rubenstein Taybi syndrome. Retrieved from https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/461/viewAbstract.
Office of Rare Diseases Research. (2014). Rubenstein-Taybi syndrome. Retrieved from http://rarediseases.info.nih.gov/gard/7593/rubinstein-taybi-syndrome/resources/1.
Rubenstein-Taybie syndrome. (2013). Retrieved from http://rubinstein-taybi.com/.
Special Friends Foundation. (2012). What is speech therapy? Retrieved from http://specialfriends.org/speech-therapy/.
Stevens, C.A. (2002). Rubinstein-Taybi syndrome. In Pagon, R.A., Adam, M.P., Bird, T.D., et al. (Eds.). GeneReviews™ [Internet]. Seattle: University of Washington, Seattle.
The Rubenstein-Taybi syndrome children's foundation. (n.d.). Retrieved from https://www.facebook.com/RTSCF.