The Mystery Of "Cri-Du-Chat" Syndrome and Things Parents Should Know!

Cri-Du-Chat means the cry of the cat in French. Have you heard of this syndrome? Cri-Du-Chat is a rare syndrome and a genetic disorder in which a variable portion of the short arm of chromosome 5 is missing. According to the Genetics Home Guide, it is an unusual condition found in just about 1 in 20,000 to 1 in 50,000 newborns. Even so, it is one of the most common chromosomal deletion-induced syndromes. Photo Credit: Adobe Stock Why Does It Call “Cry of the Cat” Syndrome? It is called as "cry of the cat" syndrome because of the high-pitched cry that sounds like a cat, due to a certain condition of the child. Due to chromosome deletion, which affects the tone of the child's cry, the larynx develops abnormally. As a child ages, the condition is more noticeable, but it is difficult to detect past age 2. Can This Syndrome Be Life-Threatening? Doctors also stated that there are many complexities and anomalies present in Cri-du-chat patients. Severe organ defects, especially heart or kidney defects or other life-threatening complications that can lead to death, are born in a small percentage of infants with cri-du-chat syndrome. In many cases, most fatal complications may occur before the child's first birthday. However, children with cri-du-chat who reach the age of 1 will have a normal life expectancy. But the child is most likely to have physical or developmental problems that persist for a lifetime. The severity of the syndrome will also depend on these complications. There are several situations in which children with cri-du-chat syndrome have been shown to develop enough vocabulary to communicate, and most of them grow up to be happy, polite, and sociable! Causes Of Cri-Du-Chat Syndrome In Children Photo Credit: Adobe Stock According to researchers, the exact explanation for the deletion of chromosome 5 is unclear. Chromosome breakage happens in most cases as the parent's sperm or egg cell continues to grow and evolve. This means that the baby experiences the syndrome when fertilisation occurs. In about 80 percent of cases, chromosome deletion is caused by the parent's sperm. Normally, this condition is not hereditary. The National Human Genome Research Institute has found that only about 10% of cases come from a parent who has a deleted section. It is believed that about 90% of these mutations are spontaneous. It is unlikely that the parents would be able to carry a kind of defect called a balanced translocation. This is a chromosome mutation that does not result in the loss of genetic material. However, if you pass the defective chromosome to your infant, it can become unbalanced. This results in a loss of genetic material and can cause cri-du-chat syndrome. Parents must know that when you have a family history of cri-du-chat syndrome, your unborn child has a higher chance of being born with the disease. Symptoms of Cri-Du-Chat Syndrome That Can Be Found In Your Baby Photo Credit: Adobe Stock Doctors explained that there are a few significant symptoms that parents can detect and check if their children develop the cri-du-chat syndrome, which are: Children born with cri-du-chat are sometimes small at birth May have problems with breathing at birth Producing a high-pitched, cat-like cry or weak cry Small chin Unusually round face Small bridge of their nose Folds of skin over their eyes Abnormally wide eyes (ocular or orbital hypertelorism) Abnormally shaped or low-set ears A small jaw (micrognathia) Partial webbing of their fingers or toes A single line on the palm of their hand An inguinal hernia (a protrusion of organs through a weak area or tear in the abdominal wall) Other than that, kids who develop Cri-Du-Chat syndrome may also have other complications such as: Skeletal problems such as scoliosis (abnormal curvature of the spine) Heart or other organ defects Poor muscle tone (during infancy and childhood) Hearing and vision difficulties Difficulty when speaking, walking, and feeding as they grow up Behavioural problems such as hyperactivity or aggression Children with these symptoms could also suffer from serious developmental deficiencies. However, if they do not have major organ defects or other essential medical problems, they should have a normal life expectancy. Ways and Methods of Diagnosis of Cri-Du-Chat Syndrome Photo Credit: Adobe Stock Based on physical abnormalities and other signs such as the usual cry, the condition is normally diagnosed at birth. Your doctor may perform an X-ray on your child's head to detect abnormalities in the base of the skull. In addition, the identification of small deletions is assisted by a chromosome test using a special technique called FISH analysis. Your doctor may recommend a chromosome analysis or genetic testing if you have a family history of Cri-du-Chat while your child is still in the womb. The doctor may either test a small sample of tissue or test a sample of amniotic fluid from outside the sac (chorionic villus sampling). Is it possible to treat Cri-Du-Chat syndrome? There is no specific treatment for the cri-du-chat syndrome. However, there are some therapies that can help to manage the symptoms such as physical therapy, speech and motor capacity therapy, and educational intervention. One of the most common questions by parents is can Cri-Du-Chat be preventable? The answer is, unfortunately, NO. There is no known way to avoid cri-du-chat syndrome. Even though you do not show any signs, but you have a family history of the syndrome, there is a high possibility that you can be a carrier. If you do, you should consider getting a genetic test. Cri-du-chat syndrome is very rare, but more than one child with this disorder is unlikely to have it. Help and Support For Parents With Cri-Du-Chat Syndrome Children Counselling Information Referral Advocacy Support groups Photo Credit: Adobe Stock I do not think it can be easy for parents who have children with this syndrome to go through a rough time. I believe that our society is still quite new to this condition, as many of us have not heard of this rare syndrome. So, the awareness of this syndrome is still quite low. Hopefully, this article will help to expose some important knowledge regarding children who have been diagnosed with this syndrome to parents and others. Reference: The National Human Genome Research Institute

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