Rett Syndrome – Causes, Symptoms And Treatment

Rett syndrome is one of the rarest neurological disorders causing progressive loss of speech and motor activity in children. The syndrome affects girls, and the symptoms appear during the first two years of their life. Babies are born normal with this disorder and also grow normally for the first 6-18 months, followed by progressive loss of function.

What is Rett syndrome?

Rett syndrome mostly affects girls. The most prominent changes usually occurs at 12 – 18 months of age, over a period of weeks or months. It is a rare genetic disorder that slows down the neurological development of the baby. The growth slows down after 12-18 months of birth and finally stops after a few years. Regression of growth also starts, which disables the baby even more. The disorder advances in stages and worsens with age.

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What causes Rett syndrome ?

Rett syndrome is a rare genetic disorder. Classic Rett syndrome and several variants with milder or more severe symptoms may occur based on specific genetic mutation. Genetic mutation which causes the disease happens randomly, generally in the MECP2 gene. This genetic disorder inherited only in a few cases. But, the exact cause is not yet fully understood and is still under study.

As males have a different chromosome combination from females, may boys with genetic mutation that causes Rett syndrome are affected in most upsetting ways and many of them die before birth or in early infancy.

Stages of Rett syndrome

1. Stage 1 of Rett syndrome[early onset]  has subtle symptoms, such as delayed crawling, sitting, losing interest in toys, less eye contact, etc. Children are born normally and grow as normal children do for the first 12-18 months. The symptoms are slow to appear and are easily overlooked by parents at that stage.
2. Stage 2 [rapid deterioration] falls mostly between the age of 1-4 when the kid slowly forgets the skills they had already learned. The deterioration is not sudden but takes place within months or even years. A few symptoms include abnormal hand movements, slow head growth, screaming for no reason, hyperventilating, lack of communication and social interaction, abnormal hand movements, loss of hand movement and communication, etc.
3. Stage 3 [plateau] can be between 2-10 years of age and last for a long time. Crying and screaming increase, with limited improvement in behavior and irritability. Hand movement and communication are stable during this stage of the disorder. The most noticeable symptom is seizures that start mostly after 2 years after birth.
4. Stage 4 [late motor deterioration] starts after 10 years and continues for years. A few symptoms that are eminent in this stage are reduced mobility, joint contractures, scoliosis, and muscle weakness. Occurrences of seizures, hand and behavior improvement are seen through this stage.

What are the symptoms?

1. Slowed body, muscle, and brain development
2. Cognitive disability
3. Loss of normal movement and coordination
4. Muscle and bone weakness
5. Loss of communication abilities
6. Breathing problems including breath-holding, hyperventilating, forceful exhalation of air or saliva, and swallowing air
7. Irritability, screaming, and crying
8. Sudden, odd facial expressions and long bouts of laughter
9. Hand licking
10. Grasping of hair or clothing
11. Abnormal curvature of the spine
12. Weak, fragile, and thin bones prone to fractures
13. Problems with chewing and swallowing
14. Problems with bowel function
15. Teeth grinding
16. Abnormal hand movements like hand wringing, clapping, tapping, rubbing, or squeezing
17. Irregular heartbeat
18. Sleep disturbances
19. Fears and anxiety
20. Abnormal eye movements including crossed eyes, blinking, intense staring, or closing one eye at a time
21. Seizures
22. Small hands that get cold all the time

When to see a doctor?

It is important to see a doctor if your child has the following symptoms:

1. Minimizing eye contact or losing interest in normal play
2. Problem behavior or marked mood swings
3. Slowed growth of the child’s head or other parts of his/her body
4. Repetitive hand movements
5. Clear loss of earlier gained milestones in gross or fine motor skills
6. Delayed speech development or loss of earlier acquired speech abilities
7. Decreased coordination or mobility

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How is Rett syndrome treated?

1. Regular medical care: Regular monitoring of physical changes like scoliosis and GI and heart problems is required
2. Medicines to treat muscle stiffness, seizures, or problems with sleep, breathing, heart or the gastrointestinal tract
3. Physical therapy: Physical therapy as well as the use of casts or braces can help children with scoliosis or need hand or joint support
4. Occupational therapy to improve  purposeful use of the hands for activities such as dressing and feeding.
5. Speech-language therapy 
6. Nutritional support 
7. Behavioral intervention 
8. Support services: Social, academic, and job-training services can help with integration into school, work and social activities

Conclusion

Rett syndrome is a neuromuscular and developmental disorder that is mostly understood to be genetic. However,  studies are being conducted to find out the reason and cause to treat the patients with the disorder better. There are no cures discovered until now for the disease but its early identification and management  is possible.

Frequently Asked Questions (FAQs)

• What are the causes of Rett syndrome?

Rett syndrome is caused by a genetic abnormality in humans. It is a rare genetic disorder to the mutation of the MECP2 gene. The genetic mutation causes problems with a protein responsible for brain development.

• Can a male child suffer from Rett syndrome?

Rett syndrome in a male child is a rare possibility.

The syndrome in males is more severe than in females. Either the baby dies in the womb or within the first few months of being born. A few cases of boys who survived with Rett syndrome have also been reported with the same developmental issues that occur with girls.

• Will my daughter ever be able to lead a normal life with Rett syndrome?

It is not possible to completely treat the disorder but there are several ways in which a patient with Rett syndrome can live a better life.