Fragile X
Fragile X affects approximately 1 in 4,000 males and 1 in 8,000 females; its severity is generally greater in boys than girls, with intellectual disability varying from mild to severe. Effects are wide-ranging and unpredictable. Fragile X is estimated to occur in around 2 to 3 per cent of people diagnosed with autism.
Children with Fragile X experience developmental delay and learning and behavioural difficulties. Children may appear ‘floppy’, particularly during infancy, with autistic features such as hand-flapping and poor eye contact, and have poor fine motor control. Attention difficulties are common as are anxiety and unstable mood.
What are the symptoms of Fragile X syndrome?
Learning difficulties
Approximately 80 per cent of boys and a quarter of girls with Fragile X have learning difficulties varying from subtle educational delays to severe intellectual disability.
Speech and language problems
Children with Fragile X syndrome commonly experience delays in speech and language development, with some finding it difficult to express themselves clearly or understand more complex language.
Behavioural and emotional characteristics
Girls are usually less affected than boys but have similar attention difficulties and are often extremely shy and socially withdrawn.
Children with Fragile X can be easily overwhelmed, particularly in busy or stressful environments. They may suffer sensory overstimulation, 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 differences
Fine motor coordination problems are common in youngsters with Fragile X but are not usually apparent until later.
Oversensitiveness 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.
How is Fragile X syndrome diagnosed?
Diagnosis is usually confirmed by a DNA blood test that identifies changes in the FMR1 gene. Prenatal diagnosis is also possible.
Visit The Fragile X Society for further information.
