Cri du Chat syndrome

Video for Cri du Chat Syndrome

Genetics andheredity information

Symtoms of the Syndrome

Introduction to Cri du Chat Syndrome

Summary of Research

Current News

Sources used

Vocabulary

Introduction to Cri du Chat Syndrome. I had to do my project on Cri du chat Syndrome. That sounds bad, more like, I was forced to but then actually enjoyed doing it. Cri du chat Syndrome simply means "cry of the cat" or "cat's cry" in French. I should have figured that out sooner, I take French. This is a super rare syndrome that affects females slightly more frequently than males, it also affects their whole world. I mean, have you ever heard a cat cry, do you know what it sounds like? Have you ever heard a kid cry, do you know what that sounds like? I might be the only one but, I don't think that kids are like cats. Someone's cry is even different than our own, this isn't a third world country, this happens in America.

Genetics and heredity information Most cases of Cri du Chat Syndrome are not inherited, the syndrome is mostly random when it appears. People with Cri du Chat Syndrome typically have no history of it in their family. Only about 10% of people who have Cri du Chat inherit it. In this case the parent most likely does not have the syndrome, but rather has a chromosomal rearrangement. This is called a balanced translocation, which means no genetic material is gained or lost but rather a small part has broken off a chromosome and went to a different one, so that chromosome realized and balanced hings out breaking away from it's self and going to the missing chromosome. Think of this as going to a friends house, and you need you to cover for them, so you rush on over their house and just cover for them, back at your house they are covering for you. Usually this does not cause any medical problems if someone has this though it is possible. However, it can become unbalanced as they are passed to the next generation causing different birth "defects", more like unusual cases. In Cri du Chat Syndrome there is a deletion in chromosome 5 that is an example of an unbalanced translocation, which is a chromosomal rearrangement with extra or missing genetic material. Cri du Chat Syndrome was first described in medical history in 1963 by a French doctor Lejeune, he discovered that on chromosome 5 there was missing or deleted part, this was the cause of Cri du Chat Syndrome, the first time it was diagnosed in history. karyotype for Cri du Chat Syndrome showing deleted part of chromosome 5:

Video of Cri du Chat syndrome This is just one little boy, imagine how many more there are like him.

Symptoms of the Syndrome Cri du Chat Syndrome is usually diagnosed as a baby, some of the signs of a child with Cri du Chat Syndrome are, but aren't limited to, and don't always appear, are:

• cat-like cry or weak cry in some cases
• low birth weight, child is not heavy
• a small head
• a rounded face
• a broad, flattened bridge of the nose
• eyes spaced wider apart than normal and downward slant
• folds of skin over the eyelids
• small chin
• oddly shaped ears
• somewhat webbed fingers and toes
• only one line on the palm instead of the normal many creases
• low muscle tone
• sometimes cleft palate/lip
• flaps of skin on eyelids
• malocclusion of the teeth

Some challenges for someone with Cri du Chat Syndrome are, but aren't limited to:

• skeletal growth issues
• heart or other organ complications
• hearing and vision difficulties

When the child gets older it is important to keep an eye out for speech problems, and walking issues. Children may also have mental disabilities that make it hard for them to learn, if they don't have any major organ problems the child should grow up fairly normal, and with a good life expectancy. Meet Bree, She was born with Cri du Chat Syndrome. See how she was treated and how it affected her life and her family's life. Bree's Story

Summary of research When doing my project on Cri du Chat Syndrome I discovered that it actually means "cry of the cat" in French, and it is a really rare syndrome. Only 1 in 20,000 to 50,000 babies actually have this syndrome around the world, and that is of those altogether, not just the ones that lived. Even though this is an awful syndrome to have, it is fairly harmless; people with this syndrome generally have good chances of living, but there are always some cases where this isn't true. Most Cri du chat related deaths occur in the first year of the child's life, there have even been cases of people exceeding 50 years old. That is longer than some healthy people. This is an awful syndrome to be diagnosed with because it kind of halts your life from ever being normal. The kind of normal where you don't need speech therapy, physiotherapy, and you and your parents don't need support groups to cope with your life. When researching this syndrome I felt really proud of the work I had done, so I showed my mom, she then asked me, "Do people who are affected ever outgrow their cry?" Now let me tell you, I had no idea. So, I did some more research and it turns out that around age 2 affected people start to lose their cat like cry. People with Cri du Chat Syndrome have a cat-like cry in the first place because of the fact that the larynx, or voice box, developed in a weird way due to the fact that affected people are missing part of their 5th chromosome. Cri du Chat Syndrome is caused because of a missing of broken chunk of a child's 5th chromosome, it is one of the reasons the syndrome is also called 5p- Syndrome(five p minus). Most of the time Cri du Chat Syndrome happens at random, the child's parents don't even have this gene, or have any family members who have it, but rather it happens at random and is unpredictable in severity. I had never heard about this syndrome before this project and without it a lot of other people won't know either. This is a serious syndrome, there are no real cures, no preventatives, but there are ways to help people with Cri du Chat Syndrome. There are therapies and groups that can help them cope, and their parents, too. Some of these are physiotherapy to improve poor muscle tone, speech therapy, communication alternatives, such as sign language, since speech is sometimes delayed, and occupational therapy to teach coping strategies and new skills. Cri du Chat affected people might be different but physically and mentally, but hey, a person is a person. They aren't that different.

An Overview of Cri du Chat SyndromeLearn about Cri du Chat Syndrome, and about how it affects people, and it's treatment.

Sources Used (Are not in order of most trusted, just how I wrote them down) article 1- Medline plus article 2- Better health article 3- Health line article 4- National Human Genome Research Institute article 5- Verywell Health article 6- National Organization of Rare Disorders article 7- Raising Children. net article 8- Building Blocks/ Penfield Children’s Center

Key Vocabulary that is important to know when reading:

• Cri du chat Syndrome- this means "cry of the cat" in French.
• 5p-(five p minus)- this is just another name for Cri du chat Syndrome.
• 5p-(five p minus)- even though this is another name for Cri du chat Syndrome it also has to do with the fact that the 5th chromosome in a cell is missing or has a broken chunk missing.
• Karyotype- a karyotype is a map of a person's chromosomes. This is to see if there are any genetic disorders in that specific person.
• Chromosome- A chromosome is a thread like structure made of coiled DNA found in the cell nucleus, that contains many genes.
• DNA- Molecule that genes and chromosomes are made of.
• Larynx-The area of the throat containing the vocal cords and used for breathing, swallowing, and talking. Also called the voice box.
• Low muscle tone- Low muscle tone is used to describe muscles that are floppy. It is also referred to as hypotonia. Children with low muscle tone may have increased flexibility,poor posture and get tired easily.
• Malocclusion- Imperfect positioning of teeth.