Fragile X Syndrome
Genetic syndrome disorders are quite sporadic and the Fragile X syndrome [FXS] is one of the disorders affecting 1 in 4000 males and 1 in 4000 females. FXS also referred to as Martin-Bell syndrome or Escalante’s syndrome is a common single-gene cause of autism, an inherited cause of Intellectual disability and behavioral or learning challenges. It normally affects more males than females. There are numerous causes of FXS and a number of characteristics to look at and find the best diagnosis or treatment of fragile X syndrome.
Fragile X syndrome [FXS] is associated with the growth of the CGG trinucleotide repeat that affects the fragile X mental retardation 1 [FMR1] on the X chromosome and results in a failure to easily express the fragile retardation X mental retardation protein [FMRP] essential for normal neural development. Mutations in the FMR1 cause fragile X syndrome. The FMR1gene is responsible for instructions for making protein FMRP which help in regulating the production of other proteins and in the development of synapses, specialized links between nerve cells.
Approximately all cases of fragile X syndrome are caused by mutation whereby a DNA segment CGG triplet is repeated 5 to 40 times and expanding inside the FMR1. In cases where an individual has been diagnosed with FXS, the CGG segment is repeated more than 200 times. Whenever the FMRP protein is lost, the nervous system is disturbed and fails to function normally leading to a number of FXS symptoms. In case of men or female with 55 to 200 repeats of the CGG segment FMR1 gene permutation is likely to occur. Such individuals are typically intellectually normal. Individuals with a permutation that is lower than normal amounts of the FMRP protein have mild versions of physical traits common in FXS and may experience anxiety and depression among other problems.
Intellectual disability is the most conspicuous trait of FXS. Nevertheless, there are a number of symptoms associated with fragile x syndrome. These features occur in both genders but they vary in one way or another, but they are more severe in males. The core features of fragile X syndrome in men include;
- Intellectual disability
- Large ears and long face
- Large testicles [Macroorchidism] in post-pubertal men
- Ear infections
- High arched palate
- Double jointed fingers
- Hyper-flexible joints
- Autism and autistic behaviors
- Social anxiety
- Poor eye contact and Sensory disorders
Normally, no one individual will have all the symptoms of fragile X syndrome. Some of the features only occur in puberty. When it comes to women, here are a few features of FXS to contemplate although they may have similar traits as those seen in men and they include;
- Milder intellectual disabilities
- General anxiety
- Emotional issues
- Hyper-extensible finger joints and thumps
- Large and protruding ears
- Soft skin
- Vertical maxillary excess [long face]
- Hyptonia among others.
Individuals diagnosed with fragile X syndrome may face different challenges in their lives. But they can be quite productive and attractive if presented with the best support and interventions. There are no current treatments of FXS defects, but patients can always seek medications for symptoms based treatments. This helps reduce the secondary features of FXS. Genetic counselling to determine full mutation or permutation is essential. Stimulants that target attentional problems or hyperactivity can aid. Antidepressants, antipsychotics, anticonvulsants and behavioral therapy or educational plans can aid help treat physical abnormalities.
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