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Spotlight on Syndromes: An SLPs Perspective on Fragile X Syndrome

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Today’s guest post on Fragile X Syndrome comes from Happily SLPCarly Fowler. 

Fragile X is an inherited disorder that is associated with mental retardation and developmental disorder. This is a sex-linked disorder.  Fragile X is linked to the 23rd chromosomal pair; specifically the X chromosome. Physical characteristics of fragile X syndrome (FXS) in males are a long face, large ears, and macroorchidism (enlarged testicles).  Often individuals also have loose connective tissue, double jointed-ness and flat feet.  Many young children do not show these characteristics until they reach puberty (Abbeduto & Jenssen Hagerman, 1997).

Fragile X affects males more often; around one in every 4,000 births results in a male with fragile X (Roberts, Mirrett, Anderson, Burchinal, & Neebe, 2002 and Mirrett, Roberts, & Price, 2003).  Males with fragile X often have mental retardation that is mild-moderate in childhood, and deficits become greater and more pronounced in adulthood (Roberts, Mirrett, Anderson, Burchinal, & Neebe, 2002).

Females are less affected with FXS than males, where only one in 8,000 births have fragile X (Roberts, Mirrett, Anderson, Burchinal, & Neebe, 2002 and Mirrett, Roberts, & Price, 2003).  Females may have a protective X chromosome that partially or completely inhibits the affected X chromosome.

Co-Occurring Disorders

Individuals with fragile X premutation are likely to have Fragile X Associated Tremor/Ataxia Syndrome or also known as FXTAS (Abbeduto, Brady, & Kover, 2007). Individuals with FXTAS experience parkinsonian symptoms, ataxia while walking, peripheral weakness, and action tremor (Brega, et al., 2009).  Individuals with FXTAS had difficulty completely activities of daily living (ADLs).  FXTAS is a debilitating disorder that affects older individuals with fragile x premutation.

Females that carry the fragile X premutation, and that are over the age of 40, are at risk of developing Fragile X Associated Primary Ovarian Insufficiency or FXPOI [National Fragile X Foundation (NFXF), 2011].  FXPOI causes early menopause and dysfunction of the ovaries.  It may also lead to infertility or problems with fertility, common problems for females with the fragile X mutation both with and without FXPOI [National Fragile X Foundation (NFXF), 2011]. 


Males with Fragile X are more likely to have attention disorders; they often demonstrate hyperactivity and limited attention.  Many of these behavioral characteristics are autism-like (Roberts, Mirrett, Anderson, Burchinal, & Neebe, 2002). Fragile X is also the leading known genetic cause of autism (Flenthrope & Brady, 2010).  Autism and autism-like behaviors are often more prominent in males with fragile X (Brady, Skinner, Roberts, & Hennon, 2006). These behaviors are characterized by spinning, hand flapping, late talking, and impaired social communication.  Females are also likely to demonstrate hyperactivity and low attention spans (Abbeduto and Jenssen Hagerman, 1997).

Cognitive Abnormalities  

Individuals with fragile X often display a spectrum of mental retardation, often ranging from social anxiety to learning disabilities or even as debilitating as cognitive impairment.  Fragile X is the leading inherited cause of mental retardation (Bailey & Nelson, 1995).  Males with fragile X often have mental retardation that is mild-moderate in childhood, and deficits become greater and more pronounced in adulthood (Roberts, Mirrett, Anderson, Burchinal, & Neebe, 2002).

Females may also show hyperactivity and low attention spans, but without mental retardation (Abbeduto and Jenssen Hagerman, 1997). Females have a much lower risk of having cognitive deficits with only 50% of all female individuals with the full mutation presenting with mental retardation. However, the remainder of the female population is likely to have social anxiety and/or learning disorders (Abbeduto, Brady & Kover, 2007).

Speech and Language Issues

Both males and females with fragile X have speech and language deficits. These deficits are found across both sexes (Abbeduto, Brady, & Kover, 2007). Speech and language problems may be the first sign of the syndrome [National Fragile X Foundation (NFXF), 2011]. Individuals with fragile X show language plateaus at age four and may not make a lot of progress past this point depending on cognitive level (Mirrett, Roberts, & Price, 2003). Vocabulary, both receptive and expressive, is often a strength for children with fragile X (Abbeduto, Brady & Kover, 2007).  Generally speaking, vocabulary is commensurate to the child’s cognition level (Roberts, Mirrett, Anderson, Burchinal, and Neebe, 2002).

Males and females with the full mutation of fragile X are affected by speech and language problems.  However, there is often variability of speech and language symptoms expressed between biological sex. Females are more prone to pragmatic language difficulties [National Fragile X Foundation (NFXF), 2011].  Additionally females are more likely to speak with a run-on narrative style (Murphy & Abbeduto, 2007). Very little research has been conducted on females with fragile X for speech and language development (Roberts, Hennon, & Anderson, 2003 and Murphy & Abbeduto, 2007).  Language deficits in males and females with fragile X do not vary in utterance level nor topic repetition (Murphy & Abbeduto, 2007). Language weaknesses in individuals with FXS generally vary, much like performance level.

Individuals with fragile X may have social anxiety, and they have problems with pragmatic language, or social language.  They are unable to maintain topics and follow conversational turn-taking (Roberts, Mirrett, Anderson, Burchinal, & Neebe, 2002).

Hearing Deficits are also common in individuals with FXS (Abbeduto & Jenssen Hagerman, 1997).  Hearing problems impact how language is learned, and can lead to more complex language needs. Fluency and voice concerns are not typically found in individuals with Fragile X. In addition, young children with fragile X syndrome often display oral tactile defensiveness, where their gag reflex may be triggered easily or they do not care for things to be in their mouth (Abbeduto & Jenssen Hagerman, 1997).


Treatment is difficult for individuals with FXS, because not a lot is known about how the brain is affected by the syndrome (Bailey & Nelson, 1995).  However, it is important to keep in mind those children who receive early intervention benefit greatly.  Speech-language pathologists are often the first professionals to see children with fragile X, as they are late talkers [National Fragile X Foundation (NFXF), 2011].

Roberts, Chapman and Warren (2008) suggest that there are a number of speech and language intervention strategies that are useful for the fragile X population. They suggest Responsivity Education/Prelinguistic Millieu Teaching (RE/PMT) is useful. RE/PMT requires the caregiver to understand their child intentional communicative behaviors while attending to their child’s focus. This intervention is child lead and requires appropriate caregiver response. Other recommended intervention techniques are It Takes Two to Talk and Picture Communication System (PECS).

Roberts, Chapman and Warren (2007) further emphasize intervention should be applicable to real life activities. If intervention is relevant to the children with Fragile X they are more likely to generalize this information outside of speech and language therapy. Such activities that have been shown to be useful include cooking, arts and crafts, and field trips. When intervention is relevant to a child they are more likely to develop stronger language skills and it also allows the child to relate the therapy to real life experiences (Roberts, Chapman and Warren, 2007).

Multidisciplinary Professionals Needed

  • The speech-language pathologist is an integral member of the intervention team of a child with fragile X (Polmanteer & Turbiville, 2000).
  • Educational Psychologist
  • Geneticist
  • Audiologist
  • Occupational Therapy


Fragile X is a genetic link inherited disorder that primarily affects the cognitive abilities of an individuals. Often speech and language difficulties may be the first indication that a child is different than others and a speech language pathologist will likely be the first professional to see the child. A speech language pathologist should be sensitive to further indications, such as mental retardation, or autism like behaviors in order to help identify fragile X as a possible diagnosis.


  • Abbeduto, L., Brady, N., & Kover, S. (2007). Language development and fragile X syndrome:  Profiles, syndrome-specificity, and within-syndrome differences. Mental Retardation and    Developmental Disabilities, 13, 36-46.
  • Abbeduto, L. & Jessen Hagerman, R. (1997). Language and communication in fragile X   syndrome. Mental Retardation and Developmental Disabilities, 3, 313-322.
  • Bailey, D. & Nelson, D. (1995). The nature and consequences of fragile X syndrome. Mental Retardation and Developmental Disabilities, 1, 238-244.
  • Brady, N., Skinner, D., Roberts, J., & Hennon, E. (2006). Communication in young children with fragile X  syndrome: A qualitative study of mothers’ perspectives. American Journal of Speech-Language Pathology, 15, 353-364.
  • Brega, A. G., Reynolds, A., Bennett, R. E., Leehey, M. A., Bounds, L. S., Cogswell, J. B., … &  Grigsby, J. (2009). Functional status of men with the fragile X premutation, with and   without tremor/ ataxia syndrome (FXTAS). International Journal of Geriatric       Psychology, 24, 1101-1109.
  • Flenthrope, J. & Brady, N. (2010). Relationships between early gestures and later language in children with fragile X syndrome. American Journal of Speech-Language Pathology, 19, 135-142.
  • Hall, S. S. (2009). Treatments for fragile X syndrome: A closer look at the data. Developmental Disabilities Research Reviews, 15, 353-360.
  • Mirrett, P., Roberts, J. & Price, J. (2003).  Early intervention practices and communication intervention strategies for young males with fragile X Syndrome. Language, Speech, and  Hearing Services in Schools, 34, 320-331.
  • Murphy, M.M., & Abbeduto, L. (2007). Gender differences in repetitive language in fragile X      syndrome. Journal of Intellectual Disability Research, 51, 387-400.
  • National Fragile X Foundation (NFXF): Support, Awareness, Education, Research, Advocacy (2011). Retrieved from
  • Polmanteer, K., & Turbiville, V. (2000). Family-responsive individualized family service plans for speech-language pathologists. Language, Speech, and Hearing Services in Schools, 31. 4-14.
  • Roberts, J. E., Chapman, R. S., & Warren, S. F. (2008). Speech & language development & intervention in down syndrome & fragile X syndrome. Baltimore, MD: Paul H. Brookes    Publishing Company.
  • Roberts, J., Hennon, E. A., & Anderson, K. (2003). Fragile X syndrome and speech & language. ASHA Leader.
  • Roberts, J. E., Mirrett, P., Anderson, K., Burchinal, M., & Neebe, E. (2002). Early communication, symbolic behavior and social profiles of young males with fragile X   syndrome. American Journal of Speech-Language Pathology, 11, 295-304.
  • Scharfenaker, S. K. (1995). Fragile X syndrome. Austin, TX: ProEdu Inc.
  • Weitzner-Lin, B. (2004). Communication assessment and intervention with infants and toddlers. St. Louis, MO: Butterworth Heinemann. 

Bio: Carly Fowler graduated in May 2012 with an MA from University of Nebraska- Omaha. She is a second year SLP working in rural NE for an Educational Service Unit. She is an active member on the online SLP community. You can follow Carly on Facebook as well as TPT.

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