Psychologist and speech therapist

Psicòleg-logopedaPsicòleg-logopedaPsychologist and speech therapist

Psychologist and speech therapist:

Carme Brun i Gasca
PhD on Psychology and Speech therapist

Unit of care for people with genetic based cognitive-behavioral disorders
PediatricS Service
Hospital Parc Tauli, Sabadell
cbrungas@copc.es

THE BEHAVIORAL PHENOTYPE IN FRAGILE X SYNDROME (Fra-X)

The first fact to bear in mind when dealing with Fragile-X Syndrome is that it affects men and women differently. Overall involvement of women is lower and more variable.

Here are some of the psychological characteristics that tend to be associated with Fragile-X; it is important to remember that having this Syndrome may predispose to certain traits, but each individual has a social, familiar, and personal situation and even genetic (if we consider the rest of genes) that are equally important and give unique features and trends. What we describe here is general, and may not apply to all affected individuals.

During childhood, behaviour manifestations are more significant than physical traits. It is important to know the behavioral phenotype associated with this syndrome, at this early stage, many of the diagnostic suspicions have arisen from observing the behavior of children.

THE COGNITIVE LEVEL of people with Fragile-X Syndrome is usually affected. Between 80-90% of men and about 50% of women have intellectual disabilities. In men with the full mutation, the IQ (intelligence quotient) is in most cases in the range of moderate to severe mental retardation, although there is a small group of high performance (high functioning) that can maintain normaly a level of borderline intelligence. In case of women with affected inellectual skills, the delay is between light levels and borderline.

It is interesting to know the COGNITIVE PROFILE, in other words, what are the aspects which entail great difficulty and which are easier. This allows us to adapt how we approach their learning skills to make the best match possible with the least frustration in the child. Note that most affected suffer a major attention deficit disorder that is a characteristic and causes inability to stop responding to stimuli (can not stop looking at everything that happens, hear all the noises, being in all) so they cannot concentrate on what they are doing. There are also difficulties in the area of ​​mathematics: they find it difficult to count, and processing all sequence tasks and abstract reasoning. In contrast, they find global processing easier, and show strong long-term memory.Some of these children have an almost photographic memory and recognize places after many years, the ability to imitate is good and so is the spatial orientation, these aspects give them greater autonomy on going places, learning houseworks, etc…

The most common FEATURES OF BEHAVIOR are: hyperactivity which tends to improve with age, but in childhood (linked to attention dèficit disorder) it can make schooling especially difficult. Distress situations are often caused by new or unknown elements, they are more reassured with the routines and they can show perseverance, frequently they repeat actions and statements. They also tend to suffer from extreme shyness, avoidance of eye contact, this aspect is highly variable depending on the situation, but usually the eye contact may cause great distress. Stereotypies are common (with flapping movements and biting hands) that occur in situations of excitement, both of joy and anxiety. They are usually children with low frustration tolerance and low standby capacity, which  means they may behave impulsively, as acting before stopping to think, that’s why sometimes they become really sad as a result of their actions. When they are relaxed and in a familiar environment they are very nice and in a good mood.

LANGUAGE FEATURES associated with the syndrome are:

–          Late onset: in children more than in girls. The first words appear when they are three-years-old or even later, and if the child is not severely affected and there are no other cases in the family, this may be the first cause of consultation.

–          Language persevering: in children, language may consist on the persistent repetition of words, questions and involuntary repetitions. Language may be persevering with regards to the difficulty of changing the subject or the repetition of phrases.

–          Facility for the acquisition of syntax and vocabulary: the acquisition of new words is usually given with relative ease once the child has started with spoken language. The long-term auditory memory and ability to imitate also facilitate this process and the process to the correct structure of sentences is often adequate to the mental age of people with fragile-x.

–          Communication Skills: this aspect of the language is in which people with Fragile-X have more difficulties. They tend not to respect the speaker, not to look at the speakerto the face, especially when they speak, they also find it hard to maintain the subject of conversation (tangential language occurs frequently, that is a word or phrase can lead them to recall another topic and jump easily from one to another) or on the other hand you cannot make them change the subject if it is one of their “favorites”. A typical behavior of the syndrome is the avoidance of eye contact and usually appears at the beginning of speech acquisition and not in earlier stages.

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