Fragile X Syndrome has a wide variety of symptoms and signs that are not necessarily always present, which makes defining the clinical picture difficult. Therefore, the presence of characteristic symptoms of the syndrome does not necessarily represent the involvement of this condition.
In many cases, patients can receive other diagnoses such as Autism, ADHD (Attention-Deficit/Hyperactivity Disorder), Asperger’s Syndrome, among others.
Signs to watch for:
Intellectual disability in the family without precise diagnosis;
Intellectual disability or learning difficulties;
Attention deficit with or without hyperactivity;
Delayed walking/crawling;
Delayed speech;
When speaking, the child repeats and mixes up information;
Imitative behavior;
Difficulty in keeping his or her eyes open when talking to someone;
Long face and prominent jaw;
Large, fan-shaped ears;
Testicles larger than normal;
Joints more flexible than normal (Hyperextensibility);
Bites hands (to the point of injuring him or herself);
A habit of shaking hands;
NOTE: In girls and women affected by FXS, the clinical manifestations are less evident, being, in general, lighter and more variable than in men.
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CHARACTERISTICS IN BOYS
INTELLECTUAL
Intellectual impairment, ranging from light limitations to more severe losses;
Delayed speech;
Repetitive and out of context speech;
Emphasis on irrelevant aspects in the context;
Follows instructions “to the letter”;
Echolalia;
Strengths:
Excellent memory;
Easily learn by imitation;
Easily identifies graphic signs and logos;
Easily copies;
Use of jargon and catchphrases;
Captures visual information more easily than auditory information;
BEHAVIORAL
Friendly and good-natured;
Hyperactivity;
Anguished when facing new situations or with unknown people;
Avoids eye contact;
Stereotypes (movement and hand bites);
Low frustration tolerance;
No ability to wait;
Impulsivity;
Aggressive behavior in situations of great stimulation;
Discomfort with unexpected changes;
Difficulty socializing;
Avoids physical contact;
Likes to follow routines;
CHARACTERISTICS IN GIRLS
INTELLECTUAL
Cognitive difficulties in girls and women affected by FXS are usually milder. Some may have changes in learning, especially in mathematics;
BEHAVIORAL
Shyness;
Difficulty in social relationships;
Impulsivity;
Anxiety;
Phobias (unjustified fears);
Emotional difficulty when speaking in some social contexts;
Low self-esteem;
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