The Fragile X Syndrome

Speech and language:
Children with Fragile X typically exhibit communication deficits ranging from speech and language delay to pragmatic language difficulty. These deficits affect their ability to speak with clarity and adequate rhythm, use well-structured expressions that are age-appropriate, and communicate with others in meaningful and socially-appropriate ways.

Males with Fragile X typically start talking later than expected, due to multiple factors such as motor speech issues, phonological delay, and lower cognitive functioning.  Most begin using words only around age four, and some may not even speak until six or eight.

Most learn to speak eventually, but there are some who may not throughout their lives. In such cases, the use of picture-based and computer-based devices can act as alternative communication tools for the nonverbal children. Apart from the above, males with Fragile X face the challenge of understanding the pragmatic areas of language as well. In other words, they have trouble understanding the meaning of what others are saying, using language appropriately to have their needs met and interacting with others.

Although females with the condition may show a much milder presentation of symptoms, using an age-appropriate manner to communicate and understanding language pragmatics still pose a problem to them.

Although these children may not naturally be sociable, they may still be very interested in communicating with others unlike those who are diagnosed with other developmental disorders like autism. Unfortunately, many of them are unable to hold a conversation due to a sensory or social overload.

Physical appearance and health:
Children with the syndrome may start developing features which are characteristic of Fragile X when they enter their puberty, usually around 11 years old. Such features are longer faces or jaws, larger ears and shorter statures.

Many males with Fragile X develop enlarged testicles during their puberty due to hormonal imbalance. However, this has no impact on their sexual development.

For females, some may experience premature ovarian failure, in which their ovary stops functioning before the average menopausal age of 51. It may be before the age of 40, sometimes even as early as their mid-twenties.

Other physical abnormalities involve the connective tissues in one’s body as one of the roles FMRP plays in the body is to maintain these tissues. As many people with Fragile X have weak connective tissues, they are more inclined to medical conditions such as hernia, frequent middle ear infections and heart murmur.

Infants and young children with Fragile X generally have few or no distinctive physical features that differentiate them from the rest. There are, however, some kids who have very soft, velvety skin, a broad forehead or a slightly larger head than others of their age.

Social and emotional:
Most children with Fragile X, especially boys, experience a lot of social anxiety, making them not as socially adept as their peers. One can tell they are anxious from their lack of eye contact and/or fast and choppy speech.

Normal children face some degree of anxiety in social situations as well, but it usually does not deter them from being social, as it may for those with Fragile X.

Additionally, between the two genders with Fragile X, males tend to distress easily. As they are easily overwhelmed with sensory stimulation, such as sights and sounds, they can become very upset in a busy and/or noisy environment.

Experiencing changes in routine such as entering a new class or classroom can cause high levels of stress in them too. It is not uncommon for children with Fragile X to cry or throw a fit; which may entail doing repetitive actions, such as rocking back and forth and biting themselves, when they are distraught.

Males with Fragile X also stay anxious for longer periods in contrast to their normal peers; hence they take longer to compose themselves than others. Their reactions to distress may become more extreme, aggressive in some cases, when they proceed into their adolescence while experiencing bodily changes such as rising hormone levels.

Females with the same condition, on the other hand, are not as affected in this aspect. They may too face social problems but they are usually milder and these females do not tend to become aggressive in adolescence.

Intelligence and learning ability:
People with Fragile X usually face difficulties in other areas such as attention disorders, hyperactivity, anxiety and processing of language, which can interfere with test-taking skills and learning. Hence the results derived from the IQ test may not accurately reflect their true intellectual ability.

Although people with the condition may not be as intellectually inclined as normal individuals, they possess certain strengths to overcome this challenge. For instance, People with Fragile X tend to remember visuals better. Visual stimulation helps them recognise letters and words better.

Sensory:
As previously mentioned, children with Fragile X are generally sensitive to sensory stimulations. A loud noise is enough to drive them hysterical and they can be distracted by slight sounds in the surroundings. Other sensations such as feeling the texture of their clothes against their skin, a tickle or hug may bother them.

Some children may also face problems with balance and coordination. Learning how to sit, stand, walk or ride a bike may be more challenging to them than to other children. However, most of them, although affected by Fragile X, can eventually grasp those skills with proper coaching.