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Fragile X Syndrome: Child
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Fragile X Syndrome presents with mental retardation (IQ 20-70), delayed milestones, high forehead, large testicles (> 3-4ml), facial asymmetry, large jaw, long ears and short temper. Other symptoms may include attention deficit, repetitive actions, clumsiness, avoidance of gaze, and sleep disturbance. Certain personality traits such as obsessiveness and anxiety can occur, Specific speech disorders may include echolalia and perseveration (the inability to complete a sentence due to repetition of words at the end of a phrase). The diagnosis is usually made before the child is one year old, but can be delayed if the symptoms are subtle.1,3
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Written by the mother of a child with Fragile X Syndrome, Fragile X, Fragile Hope discusses her experiences raising a child with Fragile X Syndrome and offers advice to other parents in similar circumstances. Buy it at Amazon.com
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Each child with fragile X syndrome should be monitored carefully for otitis media, as many require PE tubes. Regular audiological exams should be done. A pediatric ophthalmologic exam is recommended to rule out strabismus, nystagmus, or myopia. Neurological evaluation may be warranted if seizures develop. A cardiology evaluation is indicated if there are signs or symptoms of mitral valve prolapse with insufficiency.
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To counter the sensory integration difficulties of children with Fragile X, a wide range of strategies has been employed. Minimizing exposure to noise and odors may prevent overstimulation. Therapeutic calming techniques, such as music therapy, can ... be used. It may be helpful to make special efforts to provide structure in the immediate environment and in day-to-day activities. Children with Fragile X often develop their own routines. Occupational therapists specializing in sensory integration therapy can work with children with Fragile X to help them organize environmental stimuli and to improve their response to formal education.
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Managing difficult behaviour - aggressive behaviour occurs in 20-30% of individuals with fragile-X syndrome. It is related to problems with impulsivity, over-reactivity to stimuli, high anxiety levels, adverse reactions to changes in routine, and mood instability. Individuals may be described as violent and unpredictable but their behaviour is often misunderstood and may represent a desire to be left alone or to escape a threatening situation rather than malicious intent. Concomitant use of behaviour modification with counselling and psychotropic medication can be beneficial in managing aggression. Stimulants such as methylphenidate, and other medications such as clonidine may be effective if the child has attention deficit hyperactivity disorder (ADHD) or if the aggression stems from impulsive behaviour. Alternatively, selective serotonin reuptake inhibitors (SSRIs) can be considered if excess anxiety, obsessive-compulsive features or depression are causes of their aggressive behaviour.
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Individuals with Fragile X may have a cluster of physical, behavioral, mental, and other characteristics. These symptoms may vary in number and degree among affected children. In the best of circumstances, early identification of a child with Fragile X and subsequent treatment involves a team of professionals. These might include a speech and language pathologist, an occupational therapist (perhaps even a specialist in sensory integration), a physical therapist, a special education teacher, a genetics counselor, and a psychologist.
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