Atypical Rett Syndrome

CDKL5 Gene In Chromosome X

Atypical Rett Syndrome is also a neurodevelopmental syndrome, and it also predominantly affects girls. It can be a milder or much severe version of the typical Rett Syndrome. Babies suffering through an atypical Rett Syndrome behave normally for the first six months; however, few symptoms might develop with time.

CDKL5 gene - The Cause of Atypical Rett Syndrome

The main reason behind the development of an atypical Rett syndrome is the mutation of the CDKL5 gene. CDKL5 gene mutation is also a rare form of the disorder that is linked to the neuro system. It is also a genetic disorder that results in neurodevelopmental impairment during the early stage of life. The seizures become extremely difficult to control. CDKL5 gene stands for Cyclin-Dependent Kinase-like 5, and this gene can be spotted on the X chromosome, similar to MECP2, which causes the typical Rett Syndrome.

Symptoms of an Atypical Rett Syndrome

There are various symptoms that one needs to look out for in order to diagnose someone with an Atypical Rett Syndrome. Some of them are as follows:

1. Extremely Slow Growth

Newly born babies suffering from an Atypical Rett Syndrome are likely to have slower growth. The head size will not be proportionate enough with the size of their bodies. With time, many other body parts might not grow at the same level.

2. Apraxia and Lack of coordination and movement

Lack of coordination during a regular movement like walking and crawling might be visible. This is usually the first sign. The signs are going to be visible in a gradual manner rather than rapidly; therefore, babies should be monitored carefully to detect any drastic changes in them.

3. Lack of communication and Dysphasia

Many babies with Atypical Rett Syndrome tend to develop a lack of communication. They might stop responding to things around them. In some cases, they avoid making eye contact and are unable to speak correctly. However, some babies develop this syndrome when they are 18 months old. In such cases, they might start losing control over the skills they have learned so far.

4. Breathing difficulty

Breathing difficulty is another alarming sign that parents should look out for. Babies with Atypical Rett Syndrome tend to either hold their breath, or they breathe heavily in an abnormal yet an alarming manner. This usually happens while they are awake, but in some cases, changes in breathing patterns might occur while they are sleeping.

5. Abnormal Hand Movements

The hand movements of the babies change, as well as the movement, become more repetitive. The hand movement can be accompanied by hand gestures like clapping, squeezing, rubbing, or even tapping. Many babies tend to do this when they are young, but one should look out for any abnormalities while they are at it. Even a slight change can signify an alarming situation.

6. Other abnormal behavior

There are various other factors that one should look out for. Many babies who have this syndrome tend to irritate and have numerous episodes of crying, which can last for a very long period of time. They also sleep during the day and are wide awake throughout the night. In severe cases, many babies often have seizures as well accompanied with off facial expressions, fragile bones, difficulty in chewing or swallowing food and teeth grinding.

The signs and symptoms of an atypical Rett syndrome might be difficult to detect during the early stages as most of them overlap with the habits of a newborn baby. However, the factors of abnormal development should be observed, such as slowed growth or a loss of any skill that was previously learned by the infant.

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