Cridu Chat is French for “cry of the cat.
” The disorder was first described in themedical literature in 1963 by doctor Lejeune. It gets its name from the mostcharacteristic feature in newborns, the distinctive and high-pitched, cat-likecry during infancy. This syndrome has many names such as Chromosome 5psyndrome, Deletion 5p syndrome, 5p minus syndrome, Cat cry syndrome, andMonosomy 5p syndrome. Becoming diagnosed with Cri du Chat varies between 1 in20,000 and 1 in 50,000 births worldwide. Approximately 50 to 60 children areborn with cri du chat in the United States each year.
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Around a third as manygirls as boys are affected. Some cases go undiagnosed making it difficult toactually know the population of people with this disorder.Cridu Chat is neither autosomal nor sex-linked. It’s the result of an deletion. Noone knows why this deletion occurs.
In most cases the deletion happensspontaneously. This disorder is caused by a missing piece of the short arm onchromosome 5. Multiple genes are missing due to this deletion and each maycontribute to the symptoms of this disorder. The piece of chromosome isimportant for normal, fetal development. However, this is a random event.
Theparents themselves usually have completely normal chromosomes. In fact, Cri duChat is so rare that the deletion of the chromosome isn’t likely to happenagain if the parents were to have another child. There’s only about a 1 percentchance that it could happen again. In result, the affected people typicallyhave no history in their family of the disorder. It is still possible for achild to inherit Cri du Chat due to a parent who also had the disorder.In10 percent of patients with Cri du Chat, there is a hereditary chromosomalarrangement that causes the deletion of the short arm on chromosome 5.
Thedeletions can differ in size and can become more extreme as a deletions getslarger rather than when the deletion is small. Majority of these deletions arenew mutations. Achild is normally diagnosed with Cri du Chat after birth while still in thehospital. The cat-like cry is the most prominent clinical feature in newbornchildren and is normally diagnostic for the Cri du Chat syndrome. Additionally,analysis of the baby’s chromosomes may occur. The missing part of the short armon chromosome 5 may be noticeable on the analysis.
If a doctor is unable to seethe missing portion, another more detailed test will be performed called theFISH analysis, fluorescent in situ hybridization, to confirm the diagnosis. Thephysical appearance of a child with Cri du Chat syndrome is one that can becomeextreme. Patients normally have an abnormally round face, widely spaced eyes,folds on the inner corner of the eyes, a small head circumference, a smallchin, and weak muscle tone.
There are also several problems that can happeninside the body. A small number of children are born with heart defects,muscular or skeletal problems, andhearing or seeing problems. Lucky for some, not all children are going to havethese many disfigurements and impairments. Having most of these will normallyonly occur in a severe case of Cri du Chat.
Asthese children with Cri du Chat grow, they may experience difficulty walkingand talking correctly. Typically behavioral problems occur such ashyperactivity or aggression. These children may have learning disabilitieswhich require special education. However, the mental capacity varies fromindividual to individual. Unfortunately, there is currently no specifictreatment available for these symptoms which is why only therapies can berecommended.
These problems can be improved by the following: Physiotherapy,speech therapy, occupational therapy, and behavioral management if necessary.Because intellect varies from individual to individual, parents or guardiansmay want to look into special education for their child. Theseverity of this condition can vary.
Some children are only mildly affected andare able to reach their developmental milestones, such as walking and talking,at the usual age. Other children may be severely intellectually disabled. Theycould be unable to walk or talk and suffer from related health problems thatcould reduce their life span. However, these cases are more rare.Themajority of children that are born with Cri du Chat are between the 2 extremes.These children will have a mild intellectual disability. How well they are ableto talk can vary as well as the several different health problems that they maygo through.
Walking is normally achievable by the children with a moderate castof Cri du Chat, but they normally don’t master it until around the age of 6.Disappointingly, it is impossible to predict whether or not a child will have amild, moderate, or severe case of Cri du Chat. This can only become clear asthe child matures and grows.
Themost prominent feature is the high-pitched, distinctive, cat-like cry that ababy lets out when they’re born. The cry sounds like that of a cat’s meow,which is exactly how the disorder got its name. The cry is caused by anabnormal larynx development, one of the many symptoms associated with thisdisorder. It usually becomes less distinguishable as the baby matures, makingit difficult for doctors to diagnose Cri du Chat after the age of 2.Inconclusion, Cri du Chat is a rare disorder that occurs due to the deletion ofthe short arm on chromosome 5. It is not the result of anything that theparents have done or failed to do. The physical characteristics can be long termand may never go away, but they can become less distinguishable.
Luckily, thehigh-pitched, distinctive cry eventually travels off as the children mature.Even though there are not any treatments or cures currently available for thisdisorder, many therapies are recommended by health specialists such as physicaltherapy, speech therapy, and behavioral modification.