Cri du chat in the United States each

Cri
du Chat is French for “cry of the cat.” The disorder was first described in the
medical literature in 1963 by doctor Lejeune. It gets its name from the most
characteristic feature in newborns, the distinctive and high-pitched, cat-like
cry during infancy. This syndrome has many names such as Chromosome 5p
syndrome, Deletion 5p syndrome, 5p minus syndrome, Cat cry syndrome, and
Monosomy 5p syndrome. Becoming diagnosed with Cri du Chat varies between 1 in
20,000 and 1 in 50,000 births worldwide. Approximately 50 to 60 children are
born with cri du chat in the United States each year. Around a third as many
girls as boys are affected. Some cases go undiagnosed making it difficult to
actually know the population of people with this disorder.

Cri
du Chat is neither autosomal nor sex-linked. It’s the result of an deletion. No
one knows why this deletion occurs. In most cases the deletion happens
spontaneously. This disorder is caused by a missing piece of the short arm on
chromosome 5. Multiple genes are missing due to this deletion and each may
contribute to the symptoms of this disorder. The piece of chromosome is
important for normal, fetal development. However, this is a random event. The
parents themselves usually have completely normal chromosomes. In fact, Cri du
Chat is so rare that the deletion of the chromosome isn’t likely to happen
again if the parents were to have another child. There’s only about a 1 percent
chance that it could happen again. In result, the affected people typically
have no history in their family of the disorder. It is still possible for a
child to inherit Cri du Chat due to a parent who also had the disorder.

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In
10 percent of patients with Cri du Chat, there is a hereditary chromosomal
arrangement that causes the deletion of the short arm on chromosome 5. The
deletions can differ in size and can become more extreme as a deletions gets
larger rather than when the deletion is small. Majority of these deletions are
new mutations.

A
child is normally diagnosed with Cri du Chat after birth while still in the
hospital. The cat-like cry is the most prominent clinical feature in newborn
children 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 arm
on chromosome 5 may be noticeable on the analysis. If a doctor is unable to see
the missing portion, another more detailed test will be performed called the
FISH analysis, fluorescent in situ hybridization, to confirm the diagnosis.

The
physical appearance of a child with Cri du Chat syndrome is one that can become
extreme. Patients normally have an abnormally round face, widely spaced eyes,
folds on the inner corner of the eyes, a small head circumference, a small
chin, and weak muscle tone. There are also several problems that can happen
inside the body. A small number of children are born with heart defects,
muscular or skeletal problems,  and
hearing or seeing problems. Lucky for some, not all children are going to have
these many disfigurements and impairments. Having most of these will normally
only occur in a severe case of Cri du Chat.

As
these children with Cri du Chat grow, they may experience difficulty walking
and talking correctly. Typically behavioral problems occur such as
hyperactivity or aggression. These children may have learning disabilities
which require special education. However, the mental capacity varies from
individual to individual. Unfortunately, there is currently no specific
treatment available for these symptoms which is why only therapies can be
recommended. 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 guardians
may want to look into special education for their child.

The
severity of this condition can vary. Some children are only mildly affected and
are able to reach their developmental milestones, such as walking and talking,
at the usual age. Other children may be severely intellectually disabled. They
could be unable to walk or talk and suffer from related health problems that
could reduce their life span. However, these cases are more rare.

The
majority 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 able
to talk can vary as well as the several different health problems that they may
go through. Walking is normally achievable by the children with a moderate cast
of 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 a
mild, moderate, or severe case of Cri du Chat. This can only become clear as
the child matures and grows.

The
most prominent feature is the high-pitched, distinctive, cat-like cry that a
baby 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 an
abnormal larynx development, one of the many symptoms associated with this
disorder. It usually becomes less distinguishable as the baby matures, making
it difficult for doctors to diagnose Cri du Chat after the age of 2.

In
conclusion, Cri du Chat is a rare disorder that occurs due to the deletion of
the short arm on chromosome 5. It is not the result of anything that the
parents have done or failed to do. The physical characteristics can be long term
and may never go away, but they can become less distinguishable. Luckily, the
high-pitched, distinctive cry eventually travels off as the children mature.
Even though there are not any treatments or cures currently available for this
disorder, many therapies are recommended by health specialists such as physical
therapy, speech therapy, and behavioral modification.