Cri Du Chat syndrome is a condition in which a person is missing a portion of the chromosome number 5. This condition is often considered bizarre, because it causes the baby affected to have a very high pitched wail that sounds exactly like a cat meowing or wailing while in heat. This syndrome is very rare and doesn’t appear very often. Babies in less developed countries may have this syndrome without knowing, so there is a small chance more individuals have Cri Du Chat Syndrome.
Causes of Cri Du Chat Syndrome
This syndrome is caused by a missing portion of the chromosome 5. This piece is very important for cell growth, and can cause the syndrome to develop if it is damaged or missing. This develops during development of the actual sperm or egg, not during fetus development and not after birth. This syndrome begins at the very root of creation.
There is a 1 in 20,000 to 50,000 chance that the newborn will have Cri Du Chat Syndrome. This is a wide range of probability, but it is considered rare. It is a small amount more common female babies than males. It isn’t limited to just white people or a specific ethnic group. All ethnic groups have an equal chance of being born with Cri Du Chat.
Symptoms of Cri Du Chat syndrome
The major symptom is an annoying high pitched wailing cry that sounds like a cat or a kitten. This may not be alarming to the parent, since a baby crying usually sounds quite unpleasant. However ,doctors will pick up on this immediately in many cases. Oddly slanted eyes are a symptom as well, in addition to being born with a low birth weight.
Babies with Cri Du Chat syndrome will grow slowly and have oddly shaped ears. This syndrome is a type of mental retardation, so babies will exhibit abnormal physical appearances. Webbing of fingers and toes are visible, as well as skin tags. Babies with Cri Du Chat syndrome will unfortunately, develop slowly mentally and have wide set eyes. Constipation and dribbling are physical signs that the baby may have Cri Du Chat or another form of mental retardation. In the future the child will most likely have speech difficulty and other communication problems.
Exams and physical testing usually reveals poor muscle tone or no muscle tone at all. Separated abdominal muscles and abnormally folded ears are also what physical exams may show.
As the child grows some symptoms and signs may lessen, others may become more severe. Distinguished facial expressions may become more obvious, such as drooling and slurring when speaking. Rare physical signs may also be more obvious, such as Cleft palates and stubby fingers. Intellectual disability becomes more obvious as the child gets older.
When someone with Cri Du Chat Syndrome grows into an adult, their reproductive organs are more developed and normal. Women and men with Cri Du Chat may be able to conceive normally, but chances of that happening are quite slim. Menstruation may be difficult for adolescent girls when suffering from Cri Du Chat.
Symptoms of this syndrome vary greatly amongst children depending on how they are raised and other genetic problems. A wide range of things can go wrong, but sometimes babies with Cri Du Chat syndrome only exhibit a few symptoms. The lucky ones are born with minimal physical defects, while some are born with severe defects that will affect the quality of life for the child.
Diagnosis for Cri Du Chat
Diagnosis is generally fairly simple. A doctor can often tell as soon as the baby is born that it has a genetic disorder or mental retardation. Genetic testing and x-rays on the skull can confirm the condition. These will also help determine how severe the disorder is.
Treating Cri Du Chat
Treatment is difficult because there isn’t a real medication or surgery that can be performed to decrease the condition. A retardation test as the child grows can give the parents an idea of how their child compares to normal children. This will help doctors and parents alike identify a course of action and how to make the child comfortable in every day life. Mental retardation may be less severe or more severe. Usually counseling and the help of an outside professional is highly recommended for the family. Dealing with a special needs child is difficult and most parents are not prepared to treat the symptoms and conditions that go along with it.
Sometimes parents may want genetic testing to determine who caused the chromosome problem, and why. Parents should consider this if they plan to have children in the future.
As the child develops into a teenager and then an adult, regular therapy and counseling should be made available. Physical therapy and special learning groups can help the child learn almost normal verbal skills. It isn’t impossible to teach a child with Cri Du Chat syndrome how to live an almost normal life. A special school is recommended, and public school isn’t the greatest idea. A teacher trained in coaching and teaching a mentally challenged child will likely provide much better results than a public school teacher. If the parent cannot afford special schooling, they can look into scholarships and special tuition programs that are offered. Most doctors that specialize in this will be able to recommend plans for the parent to help them.
The worst thing that any parent can do is keep the child hidden or secluded. Socializing and bringing things to them can help with normal development and even allow the child to improve. A number of special tests and scans can be done to boost intellect.
If the child isn’t nurtured as part of therapy, the parents can expect him or her to remain at a very low intellect level for the rest of his life. This is an unfortunate part of the syndrome, but is quite easy to change if done early on in the child’s life.
Dealing with Lifetime Complications
If the child isn’t taught early on and treated as a normal individual, then he will likely be unable to care for himself throughout his entire life. Basic skills such as bathing and eating normally can be taught. Inability to function in normal society is also a very real complication, but it usually isn’t a problem for most people. If the child is trained on manners, speech, and behavior, they will probably be able to function just fine. It may seem grim, but special arrangements should be made in the event that something happens to the parents. A special “home” isn’t recommended unless it is a well regarded and offers the highest quality care.
There is no real prevention method for this condition. Genetic counseling is available and can help future parents decide if they should have children. Sadly, some parents that have genetic problems may not wish to procreate and risk their child being born with a disorder or syndrome. A genetic counselor will help the parents avoid or minimize the risk of the baby developing a syndrome such as Cri Du Chat Syndrome.