Brain Facts

Cerebral Palsy

The brain disorder is characterized by physical disability caused due to fault in motor neurons of the developing brain that control body movements. The part of the brain that is mainly affected is ‘cerebrum’, and palsy refers to disorder of movement. However, all paralytic disorders are not cerebral palsy. This damage to the brain could occur during pregnancy, childbirth or after birth up to about age three. It is observed that about 40% of all children who develop cerebral palsy are those who were born prematurely. This affliction also occurs more often in multiple births.

Victims of cerebral palsy show impairments of different body movements, based on which this disorder is classified into four types: spastic ataxic, athetoid /d yskinetic and mixed. Spastic cerebral palsy is the most common type of this disorder occurring in 80% of all cases. This neuromuscular mobility impairment has its root in the upper motor neuron lesion in the brain and the motor cortex. This further impairs the ability of some nerve receptors in the spine to properly receive the neurotransmitter called Gamma Amino Butyric (GABA). This affects the movement of muscles that receive signals by those damaged nerves.

Cerebral palsy is characterized by abnormal muscle tone and lack of coordination in body movements that result in involuntary facial gestures and unsteady gait in most victims. Speech and language disorders are also common in persons affected with cerebral palsy that is associated with mental retardation and hearing impairment. Depending on the severity of this affliction, the victims even show many joint deformities. Treatment is multi-dimensional as it may include various therapies like occupational therapy, physiotherapy, speech therapy, drugs to control seizures, alleviate pain, or relax muscle spasms besides surgery to correct the abnormalities related to dysfunction of muscles.

Fragile X syndrome

This is a genetic disorder that results in a spectrum of intellectual disabilities and is marked by physical characteristics like an elongated face, flat feet, large or protruding ears, low muscle tone and large testes in affected males. The victims show social anxiety marked by poor eye contact and extreme shyness resulting in poor social interaction. The fault lies in the blueprint of life as the length of a trinucleotide repeat sequence (CGG) is abnormal that affects the expression of a gene called ‘Fragile X Mental Retardation gene’ present on the X-chromosome.

It normal persons this gene contains 5-44 repeats of the CGG trinucleotide sequence, whereas victims of fragile X syndrome have over 200 repeats of this CGG codon. The protein expressed by ‘Fragile X Mental Retardation gene’ plays an important role in neural development. This disorder can be diagnosed by genetic testing that employs a special biotechnique called ‘Polymerase Chain Reaction’ (PCR) for determining the number of CGG repeats.

Parental testing for diagnosing fragile X syndrome can be done by employing the techniques namely, ‘amniocentesis’ and ‘chorionic villus sampling’. This early diagnosis of fragile X syndrome in foetus growing in the womb can allow the would-be parents to take an informed decision to terminate the pregnancy if the unborn baby is affected. Women who are carriers of the abnormal CGG repeats can be also identified that further allows genetic counseling as there is 50% chance that carrier women may given birth to affected sons. Although there is no foolproof drug treatment, supportive management may involve speech therapy, occupational therapy, and personalized interventions to improve educational and behavioural needs.

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