Fragile X Syndrome

Fragile X Syndrome is a genetic condition that causes a several developmental problems in children including learning disabilities and cognitive impairment. It is a genetic abnormality seen on the X chromosome that leads to behavioral problems.

Fragile X syndrome occurs in nearly 1 in 4000 males and 1 in 8000 females and boys are more affected with this disorder than girls. Females having Fragile X Syndrome are less impaired than males. It is known by various names like marker X syndrome, Martin-Bell syndrome, FXS, FRAXA syndrome, Escalante syndrome, etc.

Fragile X syndrome is a condition that occurs in the developing baby when the body cannot make enough of a protein it needs for the baby’s brain to grow and develop.

Causes

  • Every living cell in the body consists of thousands of genes. Genes are found on chromosomes. Every cell contains 23 pairs of such chromosomes.
  • Fragile X syndrome occurs due to mutation (gene change) of the FMR1 gene (fragile X mental retardation 1) on the X chromosome.
  • Fragile X syndrome is caused when part of gene on the X chromosome repeats more than usual.

    Symptoms

    Symptoms are in a mild to moderate degree in children with Fragile X syndrome. In one-third of children, the features of autism are present, seizures and hyperactivity can be seen in such children.

    At first, the noticeable sign in children is a large head size. As the child grows, many features get unfolded.

    Physical features include a long and narrow face, large ears, flexible fingers and large testes. Symptoms can be sub-grouped into:

    1. Developmental signs and symptoms
      • Delayed milestones - sitting, crawling or walking occuring late in child’s life
      • Learning problems at school in boys
      • Problems with speech and language in boys
    2. Social or behavior signs and symptoms
      • Not making eye contact
      • Having trouble paying attention (like in autism)
      • Flapping hands
      • Being hyperactive, aggressive
      • Being afraid in new situations
    3. Physical signs and symptoms
      • At first, the child’s large head size
      • Long face, ears and chin
      • Loose, flexible joints
      • Flat feet
      • In boys, large testes after puberty

    Diagnosis

    Boys with fragile X syndrome usually are diagnosed at around age of 3 years. Since girls have less serious symptoms, they’re usually diagnosed a little later, around age 3½ years. Most parents, care-givers notice delays in speech and language skills, difficulties in social and emotional in their children in certain situations.

  • Pre-natal testing – This testing is done during pregnancy, with techniques like chorionic villus sampling or amniocentesis.
  • Molecular Testing – This is used to determine carriers of Fragile X syndrome.
  • Early diagnosis – The early diagnosis of fragile X syndrome or carrier status is important for providing early intervention in children or fetuses affected with the syndrome.

  • Genetic counseling – Early diagnosis is also useful with regards to the potential for a couple's future children to be affected.

    Treatment

    Diagnosis fragile X syndrome or carrier status, both early is important for early intervention and initiating treatment in children or fetuses with the syndrome.

    Symptomatic relief is given to such children with Fragile X syndrome. Anti-convulsant medicines are given to control mood swings, behavioral symptoms.

    If ADHD is present in these kids, is treated with stimulants. Speech therapy, Behaviour therapy can be given to treat troubling behavioral symptoms.