Fragile X Syndrome

Fragile X syndrome is a genetic disorder that causes many developmental delays and deviances including intellectual and cognitive impairments. More males are affected than females and have more severe features. It occurs in approximately 1 in 4000 males and 1 in 8000 females.

Features

1.  Speech and Language

   1.  Delayed Speech and Language. Children with Fragile X don’t learn to speak in short phrases until 2 ½ years g age.
   2. Speech of children with Fragile X is fast, loud narrative and compulsive.
   3.  Short bursts of speech including breaks and repetitions of words and phrases are common.
   4. Speech is described as ‘cluttered’
   5. Oral and verbal dyspraxia may be present
   6. Pragmatic Difficulties seen. Children with fragile X find it hard to maintain the topic of conversations and tend to pass random comments. They may also show poor eye contact.
   7. Syntax or sentence formation skills are according to the mental age of the child
   8. Poor abstract reasoning skills
   9. Fair receptive language skills
   10. Poor auditory processing, sequencing and memory skills
   11. Good sense of humor
   12. Strong visual processing and memory skills

2. Cognitive Characteristics

   1. Most boys have mild to moderate intellectual disability while 1/3^rd girls have cognitive delays
   2. Parents find it hard to believe that these children are intellectually impaired because they are generally smart and alert and are quite verbal too.
   3. Children may have anxiety and hyperactive behaviour as also attention deficit disorders ( ADD)
   4. About 1/3^rd of children with Fragile X syndrome may have autism spectrum disorder that hampers the social interaction and communication skills.
   5. Arithmetic skills are poor
   6. The unevenness of their skills and features makes them difficult to understand by parents, teachers and therapists.

3. Physical and Medical Characteristics

   1. Distinctive physical appearance – long, narrow face, large ears, soft skin, prominent jaw and forehead, usually flexible fingers, flat feet and in males, enrlaged testicles ( macroorchidism) after puberty
   2. Seizures may occur in about 15% of males and in 5% of females

Causes

Mutations in the FMRI gene cause Fragile X syndrome. This gene is responsible for making protein that helps in connecting the synapses of the neuronal cells in the brain. The disorder is inherited by an autosomal dominant. This is an X linked syndrome which means that the gene responsible for causing it is present on the X chromosome.

Intervention

A holistic team approach by professionals such as clinical psychologists, psychiatrists, speech language therapists, special educators and doctors are needed for helping children with Fragile X to cope with their day to day challenges and struggles.