Defining: Fragile X Syndrome

(This article is based on a report written by Dr. Meir Lotan and published in “Mental Health and Impairment”, a periodical released by Israel’s Welfare Department.)

Fragile X Syndrome (FXS) is a genetic disorder that affects neurological development, causing moderate mental retardation in boys and mild retardation in girls. The syndrome is categorized by a variety of problems affecting the individual’s cognitive, language and sensory skills. FXS is associated with the expansion of a certain gene sequence on the X-chromosome which results in the failure to secrete the FMR1 protein, necessary for normal neural development. The syndrome was first identified in 1943 by two scientists, Martin and Bell, thus earning it its alternate name “Martin-Bell Syndrome”.

FXS is the second most prevalent cause for mental retardation, after Down syndrome. Approximately 15% of boys and 70% of girls with FXS have an IQ score of 69 points or higher. There is quite a significant correlation between autism and FXS; about 2% to 6% of autistic individuals have FXS. However, children who have FXS, even those with autistic behaviors, are capable of carrying a conversation and communicating. It is crucial to test for FXS when autism is suspected in a young child.

External Characteristics

Some of the distinguishable features that typify FXS individuals are: an elongated face, curved jaws, and large, protruding ears. Of course, FXS cannot be diagnosed based on appearances alone since some of these features appear in normal individuals and are not indicators of FXS. Genetic testing should be done in order to establish a diagnosis.

Sensory Processing Disorder

When a person has sensory processing issues, he will have difficulty organizing sensory information as it comes into the brain through the senses. The human brain constantly receives stimulation through the five senses as well as through proprioception (perception of the body’s movements and position). The brain processes these signals, thus enabling the body to respond appropriately to its environment. Besides for helping a person learn more about his environment, functional sensory integration also serves as a survival technique and helps protect the person from harm. Individuals with FXS suffer from an array of problems associated with dysfunctional sensory processing. The individual may have difficulty sleeping (easily awakened by the slightest sound or touch), recoil at sensory stimulation (which can include a pat on the shoulder, a shirt label coming in contact with skin, bath time, combing hair etc.), and may avoid making eye contact. Some people with sensory issues may also suffer from reading disorders since they tend to avoid the written word. 

Motor Development Problems

Sensory issues can also cause problems in movement and mobility. Impaired balance, for example, may negatively impact a person’s ability to walk, climb stairs, jump etc. Thus, children with FXS reach developmental milestones at a slower pace, although most of them begin walking by age two. Some children may compensate for their sensory issues with stimulating motions such as repetitive hand flapping.

By and large, there is a direct correlation between an individual's cognitive aptitude and his motor skills, so the milder the cognitive impairment, the better motor skills the person will have.

Language and Speech Disorders

Individuals (mainly the males) with FXS very often grapple with language and speech problems including: delayed speech development, auditory processing disorders, difficulties with sentence structure, lack of conversational skills, social anxiety, and repetitious use of phrases. They may also talk to themselves.

Anatomical Features

Additional skeletal irregularities in an FXS patient may cause: heart murmur (due to defective heart valves), abnormal flexibility of the fingers or thumb, flat feet (which necessitates professionally fitted orthopedic arches), frequent ear infections (it is advisable to schedule routine checkups by an ENT and to conduct effective hearing tests).

Treating FXS

While there is no designated treatment for Fragile X Syndrome, there are ways to curb its negative effects as much as possible with the help of special education, occupational therapy, and behavioral therapy. An individualized treatment plan, tailor-made to improve the child’s weak points while enhancing his capabilities, can greatly boost a child’s progress. Of utmost importance, however, is to begin treatment and therapy as early as possible. When a child is treated in his early years, while his brain is still in its formative stages, he is given the best chance at reaching his full potential.

Sometimes, medication will be prescribed to address specific problems that can be found in children with FXS, such as ADD, aggressive behavior, and sleeplessness. 

In conclusion, it has been proven that children who are raised at home but attend special ed frameworks reach adulthood in a better state than those who didn’t receive proper treatment in their early years.