Cri-du-Chat (Cat's Cry Syndrome)
Bethany Everson B3
What is This Disease? What Causes It?
Cri-du-Chat, more commonly known as Cat’s Cry Syndrome or 5p- Syndrome, is a disease that manifests in babies. The source of the disorder is a missing section of chromosome 5 from the infant’s chromosomal patterns. A break takes place while an egg or sperm cell is developing, and the fertilized gamete then affects the individual. This chromosomal deletion causes many defects in children from a young age.
Who is Affected By Cat's Cry Syndrome?
- Cri-du-Chat is relatively rare, only ranging from about 15,000-50,000 cases, but is more likely to affect females than males. The disease forms in infants, but can go without showing signs for up to 2 years and prolonging any diagnosis taking place.
- Fortunately, prenatal tests for this disorder are available and highly recommended for those who have a family history that is associated with Cat's Cry Syndrome. Babies are still very likely to have the disorder if they have no family history of it, however, meaning anyone could be a candidate for Cri-du-Chat and that it is not strictly inherited. Sampling can be performed and can almost 100% accurately diagnose the disease.
Symptoms
- There are a wide variety of symptoms that Cri-du-Chat harbors. The main trait that coined the nickname of the disorder is a high-pitched crying that babies who are affected make that sounds like a cat's mew and fades as the individual grows.
- Babies show signs of a low weight at birth, a diminished head size, and problems in growth.
- Other physical symptoms include having an uncharacteristically round face, eyes spaced far apart and become crossed, a cleft lip, and an extensive width cross the bridge of the nose.
- Affected children show intellectual disabilities, and are better at understanding what is being said to them than speaking or expressing what they think.
- A defect called "psychomotor" is also common, where minute tasks such as sitting up and walking can be increasingly lagging and delayed.
Treatment for Cri-du-Chat
- Treatment for the disorder centers around how the individual themselves is affected.
- There is no go-to way to treat the disorder, and more over focuses on the severity of the different traits each victim shows.
- Professionals diagnose treatment after working together to analyze the symptoms they're presented with. Doctors and specialists possibly necessary in the treatment of a person with Cat's Cry Syndrome are pediatricians, surgeons, and speech pathologists/therapists.
- Children should be treated as soon as possible for help with their speech patterns and physical capabilities.
- The lifespan of those with the disorder is generally high, and the first year after birth tends to be the hardest.
Outlook: Living with Cri-du-Chat
What It's Like to Live With Cat's Cry Syndrome
The disorder doesn't go away, and treatment and assistance will always be needed throughout the lives of those affected by it, but they can still live and do many normal things. Again, it depends on how severe the disorder is in the individual, but with copious amounts of training can learn to care for themselves under supervision. Development will be hindered, but those with Cri-du-Chat can grow up living near normal lives for people with a chromosomal disorder.
Possible Cures?
- While research has been taking place on the subject of a possible cure of Cri-du-Cat for years now, nothing has been discovered other than what causes the disorder (the gene locations on the larynx and the separate bands on the 5th chromosome). There is only easing of the symptoms of someone with this disorder, and no cure in the foreseeable future.
- Research also states that the disorder can not be prevented and is not the fault of the parents who have the child.
Living with Cri-du-Chat Video:
Living with Cri du Chat | Ireland AM
Having Children
Sadly, it is not very safe for someone with this disorder to have children. Although biologically possible, many people affected can only focus on caring for themselves and don't have it in them to support a sentient life form as well. It is not likely health defects would be passed down to their children if they were to have one, as people with the mildest stages of Cri-du-Chat have had. If the disorder is at a more serious stage, it's not safe for an affected individual to have children.
Quick Facts
- 80% of the time, the deletion causing Cri-du-Chat comes from the male sperm.
- The disorder was officially discovered in 1963 by a geneticist called Jerome Lejeune.
- This is one of the most common disorders dealing with chromosomal defects.