Speech Therapy

Rett Disorder Symptoms And Its Stages

My daughter is the second baby girl after me, in my whole family. She is the apple of everyone’s eye and we are very obsessed providing her with everything. Last month she fell ill and we rushed her to the hospital. We all were absolutely shocked to see two cases of rett disorder symptoms there. We were absolutely scared! We asked and consulted the doctor to screen our baby for any of the developmental disorders. Let us learn more about the symptoms and different stages of this disorder.

Rett Disorder Symptoms:
Due to some alterations (mutations) in the normal design of the MECP2 gene this disorder occurs. MECP2 gene synthesizes a protein that plays an important role in the normal development of brain and also regulates its function. This mutation results in the following signs.

  • A severe case of this disorder makes the kid bed ridden with minimum or no body movements like, walking, talking, hand movements, or even eye gaze.
  • Seizures.
  • Slow growth of the baby physically and mentally.
  • Constant crying, screaming, and irritability for longer periods of time.
  • Weak muscles.
  • Curved spine.
  • Sense of balance is poor.
  • Difficulty in eating, chewing, and swallowing food.
  • Ability to think and judge is also affected negatively.
  • Teeth grinding.
  • Putting hand in mouth.
  • Weak or no motor skills.
  • Coordination is bad.
  • Hyperventilation, or shortness of breath, or other breathing problems.
  • Head size is small.
  • Avoids seeing or talking to others.
  • Lack of interest in people, toys, games, etc.
  • Gastrointestinal problems. Constipation, refluxes etc.
  • Saliva flowing from the mouth.

These are only a few of the many signs of the syndrome. It is better to consult the doctor at the earliest and start the various therapies to control and minimize the severity of the symptoms.

Different Stages Of The Disorder:
Experts have divided Rett’s syndrome into 4 stages and each stage exhibits certain developments indicating the presence of the disorder. Parents should pay attention to these signs and consult a doctor.

Stage 1:
The development of the baby girl is normal up to 6 months, but it sees the onset of the disorder. The symptoms are hard to identify because they are not very prominent. Difficulty in crawling, or sitting, avoiding eye contact, losing interest in toys, decreased head size are some of the signs which go unnoticed.

Stage 2:
The symptoms are very prominent and rapid during 1 to 4 years. This stage severely exhibits the signs of the disorder where the motor skills, hand movements, etc are impaired. Clapping, wringing movements, flapping of hands is seen, and breathing irregularities during day time but normal while sleeping is observed. Reduced social interaction and communication skills.

Stage 3:
Between the age of 2 to 10 decreased motor skills, lack of coordination, lack of interest in people, and seizures are seen. But, on the other hand the severity of the symptoms decreases and regained eye contact, improved behavior, less irritability, less crying etc is also observed. Attention and focus increases, communication skills improve, and other features too are regained.

Stage 4:
This stage witnesses loss of mobility, motor skills, weak muscles, and curvature of the spine. Spasms, abnormal body, arms, and legs posture, impaired limbs movement, and repetition of certain hand gestures is noticed. Eye contact further improves.

These various stages and rett disorder symptoms should alert the parents sufficiently and try and prevent the damage as much as possible by approaching for treatment in time. Physiotherapy, speech therapy, good nutrition, and support etc and many other multidisciplinary approaches would be very helpful. Though, there is no real cure for the problem, hope should never be lost.

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