Fragile X is the second most commonly occurring inherited condition after Down’s syndrome. Children with Fragile X may be developmentally delayed and experience learning and emotional difficulties.
Gross and fine motor skills are often poor; children may appear ‘floppy'.
Adults often show strengths in domestic daily living skills, relative to their communication and socialisation abilities. But many need a degree of supported living.
Fragile X gets its name from the discovery of an abnormal ‘fragile’ site on the X chromosome. Fragile X occurs in approximately 1 in 4,000 males and 1 in 8,000 females; its severity is more marked in boys than girls, with intellectual disability varying from mild to severe. Effects are wide-ranging and unpredictable.
Features ascribed to Fragile X syndrome include a relatively large head, a long face with prominent ears, largish jaw and double-jointedness. However, as these are less marked in young children a Fragile X diagnosis is often missed or delayed. Epilepsy is developed by up to 30 per cent of people with Fragile X syndrome.
Diagnosis is by blood test using DNA analysis. Prenatal diagnosis is also possible.
Approximately 80 per cent of boys and a quarter of girls with Fragile X have learning difficulties varying from subtle educational delays to severe mental handicap.
Overall strengths are:
- verbal abilities and good vocabulary,
- aspects of simultaneous information processing
- visual perceptual ability
As a result, reading is often less problematic than organising thoughts, planning ahead, processing new information (especially where abstract reasoning is involved), sequential processing, visual-spatial abilities, short-term memory and numeracy.
With puberty and adolescence the rate of intellectual development appears to decline.
Speech and language problems
Language difficulties can include:
- a complete absence of speech through to mild communication problems
- The rate of talking may be fast and fluctuating
- swings in pitch may be evidenced
- garbled and disorganised speech with corrections
- frequent shifts of conversation from topic to topic
- speech may be delayed, distorted or lack fluency
- articulation problems are also common.
Children may repeat their own and other people’s speech as a way of maintaining participation in conversation while trying to process what is being said.
Girls are usually less affected than boys, but have similar attention difficulties and are often extremely shy and socially withdrawn.
When stressed, a child with Fragile X may:
- be overactive and impulsive
- have marked concentration problems, attention deficit, restlessness, fidgeting
- be easily distracted
- show anxiety through obsessions such as hand-flapping or persistent attention seeking
- become irritable, tantrums and aggressive outbursts are aggravated by environmental over-stimulation, confusing situations or heightened anxiety.
Children with Fragile X can be easily overwhelmed, particularly in busy or stressful environments. They may suffer sensory over-stimulation, seemingly overreacting to noises, smells and sounds. They need routine, security and constant reassurance. Emotional difficulties are common even in girls with a normal IQ.
Coordination and sensory issues for children with Fragile X
Fine motor co-ordination problems are common in youngsters with Fragile X, but are not usually apparent until later. Over-sensitiveness to sensory stimuli means that people with Fragile X are easily overwhelmed by sights, sounds, smells, tastes and textures – poor eye contact and gaze avoidance may be attempts to avoid excessive stimulation.
Things that help - in and out of school
A safe, secure, caring environment is an essential prerequisite to lessening the anxieties experienced.
Intervention should be child-orientated and directed to the needs of the child. Within the context of school these may include:
- An uncluttered but interesting learning environment.
- Sticking to routines. Where changes are necessary (holidays, a school trip etc) the child should be helped to prepare for them.
- Working consistently and in a coordinated fashion to promote positive behaviour, change and development.
- The use of praise/rewards. These should be instant so the child recognises they are linked to positive actions.
- Working on minimising or eradicating poor behaviour, obsessions and other difficulties.
- Having clear aims, objectives and outcomes which are communicated to the child.
- Using clear language.
- Ensuring instructions are understood.
- Monitoring and recording progress. Sharing good practice/things that work.
- Teaching from the stage the child has reached with their learning.