Rubenstein-Taybi Syndrome

Information for the Speech-Language Pathologist

What is it?

Rubenstein-Taybi syndrome (RTS) is a neurodevelopmental disorder resulting in a variety of impairments, including moderate to severe intellectual disability, short stature, and facial and other physical abnormalities. RTS affects approximately 1 in 100,000 to 125,000 newborns.

Also called: Broad Thumb-Hallux Syndrome, RSTS

What causes RTS?

About 50% of cases of RTS are caused by genetic defects. Mutations of the CREBBP gene, which is responsible for making proteins that regulate cell growth and division, have been identified in many cases of RTS. Deficits in the EP300 gene, which is responsible for proteins involved in development after birth, can also cause RTS. More severe cases of RTS may be caused by deletion of multiple genes from chromosome 16. Genetic testing is the primary diagnostic criteria for 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)
  • Seizures

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?

There is no treatment for RTS. Most individuals with RTS survive into adulthood. Motor development is delayed, but most can walk by 2.5 years. Orthopedic surgery to repair malformed fingers and toes can improve grasp and ease discomfort.

Images (below): illustrations of common facial characteristics associated with RTS; large broad thumb common in children with RTS; Source: Google Images

Language & Learning

There are very few studies that have investigated the speech and language of children with RTS. One study by Hennekam et al. (1992) examined the intellectual, social, behavioral, and linguistic abilities of 40 people with RTS using a variety of standardized assessments. They highlighted the following speech and language characteristics:

  • 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.

Academic Challenges

Several studies have reported that children with RTS rarely have behavioral problems and are generally considered friendly and sociable (though adults with RTS may display obsessive/compulsive behaviors as they age). However, trouble concentrating and short attention span are commonly cited (e.g., 79% of participants in one study). Attention difficulties coupled with moderate to severe intellectual disability can result in learning challenges. Students with RTS who have more severe intellectual impairments may attend special education schools.

Home & Classroom Strategies

Children with RTS frequently have intellectual disability (ID). In order for these students to successfully communicate with others and home and in school, teachers and parents may need to modify the materials and information they present.

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.


The use of AAC may facilitate communication for children with RTS who are nonverbal or have limited verbal output. Two meta-analyses found AAC helpful for individuals with developmental disabilities and/or communication challenges, as reported by parents and professionals (Baxter, Enderby, Evans, & Judge, 2012; Millar et al., 2006). However, hi-tech AAC may not always be available or functional. Additional research is needed to assess the efficacy of AAC and speech generating devices (SGD) for children with RTS.

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.

Additional Resources


ASHA Policy: Intellectual & Developmental Disability

Outlines the knowledge and skills required by the SLP serving populations with intellectual and developmental disabilities (which includes RTS)

ASHA Leader: Intellectual & Developmental Disabilites

Answers FAQs about treating communication in individuals with severe intellectual and developmental disabilities

ASHA Article on Genetics

Advocates for SLPs to understand the basics of genetic disorders and how they influence communication. Provides list of resources on genetics medicine and research

NIH: Genetics Home Reference

Designed for health care professionals; gives background information on RTS and lists research databases

For Parents

Includes basic information, parent resources and support, and biographies of individuals with RTS

Special Friends Foundation

Shares events and support resources for the RTS community and families

Madisons Foundation

Designed to connect parents of children with rare diseases; provides information and allows parents to submit research requests

Facebook: Rubenstein-Taybi Children's Foundation

Posts resources and other events for the RTS community and families

For Anyone

NIH: Genetic & Rare Diseases Information Center (GARD)

Contains research references for RTS, as well as lists of organizations supporting RTS

National Organization for Rare Disorders (NORD)

Lists organizations that provide information and/or services and support to families of children with Rubenstein-Taybi syndrome

Helpful Research Articles

Cantani, A., & Dagliesi, D. (1998) Rubistein-Taybi syndrome. Review of 732 cases and analysis of the typical traits. European Review for Medical and Pharmacological Sciences, 2, 81-87.

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

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Additional References

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

American Speech-Language-Hearing Association. (2005). What does the SLP or audiologist need to know about genetics when conducting assessments? Retrieved from

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

Madisons Foundation. (2005). Rubenstein-Taybie syndrome. Retrieved from

Mervine, P. IEP goal bank. Retrieved from

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

Office of Rare Diseases Research. (2014). Rubenstein-Taybi syndrome. Retrieved from

Rubenstein-Taybie syndrome. (2013). Retrieved from

Special Friends Foundation. (2012). What is speech therapy? Retrieved from

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