Have you ever noticed that newborn babies sometimes cry a little strangely? Also, there are times when the appearance and development of some babies' faces seem a little different. Today we are going to talk about one such rare but very important condition to be aware of. That is called 'Cri du Chat Syndrome'.
What is Cri du Chat Syndrome?
Simply put, cri du chat syndrome is a very rare genetic condition. It is caused by a deletion of a small piece of a chromosome in our body. You may be wondering why it is called 'cri du chat'. It is a French word that means 'cry of a cat'. The name comes from the specific sound that babies with this condition make when they cry. It is a low, high-pitched sound, like a kitten meowing.
This is also called '5p- syndrome' (5p minus syndrome) . Do you know what it is? This means that we have chromosome number 5, and the part called 'p' (that is, the little hand) is the part that I mentioned that is missing. The way this '5p-' syndrome affects each person can vary. That is, depending on the size of the missing chromosome piece and where it is missing, some people may experience more or less symptoms. If this piece is missing a lot in some babies, the symptoms may be a little more severe.
How common is this cri du chat situation?
Actually, Cree du Chat syndrome is a very rare condition. However, it is one of the more commonly reported diseases caused by chromosomal abnormalities. Imagine, in a country like America, about one baby is born with this condition for every 15,000 to 50,000 newborns. That means about 50 to 60 babies per year. So, there are chances of detecting such conditions in Sri Lanka too.
What are the symptoms of cri du chat syndrome?
The symptoms of this condition can vary greatly, as I mentioned before. However, the main and most common symptom is that distinctive, low, high-pitched cry. It's like a cat crying. This sound is clearly recognizable in the first few weeks after birth. However, as the baby gets older, the distinctiveness of this sound may become less pronounced.
In addition, your baby may notice these distinctive facial features :
- Smaller than normal head size (microcephaly).
- Unusually round face.
- Wide nose.
- The distance between the eyes is greater than normal (hypertelorism).
- Crossed eyes (strabismus).
- The eyelids are bent downwards (palpebral fissures).
- Having an extra fold of skin at the inner corner of the eye (monolid eyes).
- The ears are positioned below normal.
- Abnormally small jaw (micrognathia).
- Abnormally short distance between the upper lip and the nose (short philtrum).
As the baby grows, the fullness of the face may decrease, and the face may become unusually long and narrow.
Other symptoms that may be seen include:
- Low birth weight.
- Growth retardation.
- Feeding difficulties. For example, inability to suckle, difficulty swallowing (dysphagia), and reflux esophagitis (GERD).
- Muscle weakness (hypotonia).
- Scoliosis.
- Heart defects.
- Delays in developmental milestones such as head control, sitting, and walking.
- Delays in speech and language skills.
- Moderate to severe intellectual disability .
The important thing is that not every baby will have all of these characteristics. Some babies may have only a few of them.
Why does this cri du chat syndrome occur?
I said that Cree du Chat syndrome is a chromosomal disorder . It is caused by the deletion of a piece of the short arm (p arm) of chromosome number 5. Most of the time, this loss of this piece of chromosome happens randomly. That is, it happens by chance when the reproductive cells (i.e. eggs or sperm) of the mother or father are formed, or during early fetal development. A baby with this condition due to a random 'deletion' can have normal chromosomes from both parents. That is, it is not inherited from either parent, in most cases.
Then isn't this inherited from the parents?
In most cases (about 90 out of 100), Cree du Chat syndrome is not hereditary. Therefore, it cannot be classified as dominant or recessive. Children with this 5p- condition usually do not have a family history of the disease.
However, a very small percentage (about 10%) of children inherit this chromosomal abnormality from an unaffected parent. Do you know how this happens? That parent may have something called a 'balanced translocation' in their chromosomes. That means that there is neither a loss nor an increase in the parent's genetic material. Therefore, those parents usually do not have any health problems. However, when this 'balanced translocation' is inherited by a child, it can become 'unbalanced'. That is when the child is likely to develop this condition.
How is cre du chat syndrome diagnosed?
Your child's doctor will usually be able to diagnose this condition as soon as the baby is born . This is because the doctor can observe things like the cat-like cry I mentioned earlier and the special facial features. The doctor will do a complete physical exam and assess the baby's symptoms. Most likely, the doctor will recommend chromosomal testing to confirm the diagnosis.
What tests are being done for this?
There are three main types of genetic tests your child's doctor can use to diagnose cri du chat syndrome:
- Karyotype test: This is used to create a map of the baby's chromosomes. This can be used to see if a part of a chromosome is missing or missing.
- FISH testing: FISH stands for 'fluorescence in situ hybridization.' This test looks for specific genetic changes or gene fragments in the baby's cells.
- Chromosome microarray analysis: Microarray analysis is a genetic test that compares a child's DNA with the DNA of a control group. It can identify entire chromosomes, chromosome segments, and deletions and duplications at specific locations on chromosomes.
Can cre du chat be cured?
Unfortunately, there is no cure for cri du chat syndrome. However, early detection and early intervention can help your child reach their full potential and live a meaningful life. That's what matters most.
How is cre du chat syndrome treated?
Treatment for cri du chat syndrome varies from child to child, as not everyone has the same symptoms. Treatment will likely require ongoing care from a team of healthcare providers . The most common treatment is rehabilitation. This includes things like physical therapy, occupational therapy, and speech therapy.
Physical Therapy
If your baby has feeding problems (e.g., difficulty sucking or swallowing), you should start physical therapy as soon as possible. Physical therapy also helps your baby develop physically. That is, it helps them sit up, stand up, and develop fine motor skills.
Occupational Therapy
Occupational therapy helps your child develop the skills they need to interact with the world around them in everyday life. This may include developing fine motor skills, visual skills, self-care skills, and sensory skills.
Speech Therapy
Speech therapy helps with a child's communication problems. Speech therapists teach children different ways to communicate. For example, sign language , communicating with the help of technology, etc. Speech therapists also help with eating problems from an early age.
In addition to these treatments, your child's doctor may recommend surgery for various conditions. For example, surgery can correct conditions such as congenital heart defects, strabismus, and scoliosis.
Can cre du chat be prevented?
Because cri du chat syndrome is a genetic condition, we cannot prevent it. However, if you are expecting a child, it is a good idea to talk to your doctor about genetic counseling . Genetic counseling can help you understand the risk of your child having a genetic disorder.
What is the lifespan of a child with cri du chat?
The outlook for most children with Cree du Chat syndrome is a bit complicated and can vary. The size and location of the missing piece of chromosome 5 is a major factor in determining the child's future. Your child may have some physical and mental limitations. However, most children with Cree du Chat have a normal life expectancy.
However, some babies are born with health problems that can be life-threatening. About 75% of such babies die within the first month of life. About 90% of deaths occur within the first year. However, the mortality rate decreases after the first few years of life.
When looking at the future of a child's illness , one of the most important factors is early diagnosis. This allows the necessary treatment and therapies to be started as soon as possible and help the child succeed.
It can be overwhelming to learn that your child has a rare genetic condition. However, learning about the condition can give you some control. Cre du Chat syndrome is a condition with a variety of symptoms. With early diagnosis and appropriate treatment, you can give your child the best possible outcome. Learn as much as you can about the condition and find support groups to help you. With early intervention and ongoing treatment, your child can reach their full potential.
Finally, things to remember
Cri du Chat Syndrome may sound a bit strange, but it's important to be aware of it.
- This is a rare genetic condition caused by a missing piece of chromosome number 5.
- The main symptom is a distinctive cat-like cry. Along with this, special facial features and developmental delays can be seen.
- This is often a coincidence, not something inherited from parents.
- Although there is no cure for this, early diagnosis and treatment such as physical, occupational, and speech therapy can greatly improve the child's quality of life.
- You are not alone. Get support from doctors, therapists, and other parents who have had similar experiences .
Every child is valuable, let's all help them develop their potential.
` Cri du Chat Syndrome, genetic diseases, chromosomes, 5p minus, cat crying, developmental delay, physical therapy, speech therapy
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