Fragile X Syndrome Speech And Language Communication Development

Maureen O'BrienChild Development, Special Needs Diagnoses

What is Fragile X Syndrome?

Fragile X syndrome is a genetic disorder that causes developmental disabilities. Males tend have more difficulty than females with this condition. Speech and language impairments usually arise by age 2. Almost all males with fragile X syndrome have some range of intellectual impairment. Approximately 30% of affected girls have cognitive impairments.

Other disorders that are associated with fragile X syndrome include anxiety, hyperactivity, attention deficit disorder (ADD), autism spectrum disorders (25-30%), and seizures (10-15%). People with fragile X (especially males) tend to have physical characteristics including: an elongated, narrow face, large ears low-set on the head, a large jaw and forehead, flat feet, and abnormally flexible fingers.  Fragile X syndrome occurs in 1 out of every 4000 males and 1 out of every 8000 females.  It is the most common inherited cause of intellectual impairment.  It is diagnosed through genetic testing of the patient’s blood.

Speech and Language Development in Children with Fragile X Syndrome

There is some research that exists regarding the speech and language characteristics of adolescents and adults (especially males) with fragile X syndrome (FXS), however, the research is relatively lacking in focusing on the development of language for these people early in childhood.  What research is out there suggests that aside from cognitive delays, there are varying levels of speech and language delays associated with FXS (more so in males).  Children with FXS tend to have a fast rate of speech, decreased speech intelligibility as they move past words into phrases, perseveration of words or topics, decreased topic maintenance, and decreased eye contact. These aspects of communication delays are not necessarily exclusive to children with FXS and not all children with FXS exhibit these delays.

Social/Pragmatic therapy with many young children with FXS who do not have an autism spectrum diagnosis tends to include greetings and polite statements such as “please” and “thank you”.  These are done early on to help the children create more peer relationships through pleasant interactions.  Some research suggests that young children with FXS are not as socially awkward in all situations, but more so in unfamiliar situations (such as a research study with a strange group of professionals).  These children often have difficulty understanding social cues and these frequently have to be taught to them in an organized way.  Even though some children with FXS have verbal language, they may still be lacking in basic pragmatic skills including use of eye contact and gestures.  In these cases, the therapist may have to go back to work on these foundation skills before moving on to more complex activities.

Children with FXS usually have relatively good articulation (ability to make sounds correctly in words) for single words.  Therapists report that they work on making the speech clearer by trying to slow the children down so that people can understand them better.

Sensory processing issues such as sensitivity to loud sounds or being overly distracted by a cluttered room affect many children with FXS.  These issues need to be addressed in order to make therapy and  learning more effective as well as efficient.  By coordinating with an occupational therapist who specializes in such treatment, the speech language pathologist (or speech therapist) can help the child and his family create an environment in which the child learns best.

Teaching Children with Fragile X Syndrome

Many therapists who work with preschool and school-age children with FXS report a strong need to use visual supports (such as pictures or gestures) to help the kids learn.  These therapists also suggest the use of routines and predictable activities to make for an optimal learning environment.  They often use schedules to assist children in transitioning in and out of activities.  These types of strategies can be very important to help children with FXS deal with their anxiety, which is a frequent issue for them.

Children with fragile X syndrome exhibit a wide range of abilities and areas of weakness.  Any treatment of these weaknesses must take into account the individual child and his or her preferences and personality.  Not all children with FXS are alike so not all treatment models are appropriate.  Therapy should involve the family as much as possible to ensure that the child has success and reaches his or her potential.

 

By: Maureen O’Brien, MS, CCC-SLP

References:

Fragile x syndrome. (2013, 09 23). Retrieved from http://ghr.nlm.nih.gov/condition/fragile-x-syndrome

Mirrett, P. L., Roberts, J. E., and 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, doi: 10.1044/0161-1461(2003/026)

Roberts, J. E., Mirrett, P. L., 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, doi: 10.1044/1058-0360(2002/034)