General Biology 1

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CRI DU CHAT
SYNDROME
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ABSTRACT

 Cri-du-chat is a genetic disorder that is caused by a deletion of the

short arm of chromosome 5. The name of the syndrome, meaning cat
cry, was coined after the main clinical finding of a high-pitched,
monochromatic cat-like cry. The clinical picture, severity, and
progression of the disease vary depending on the region of the
chromosome deleted and whether it is terminal or interstitial. In other
words, differences in phenotype are attributable to the differences in
genotype. This disorder characteristically presents with distinctive
facial features, delayed development, and intellectual disability.
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INTRODUCTION

Cri du chat syndrome, also known as 5p- syndrome, is a genetic disorder

that is caused by a deletion of the short arm of chromosome 5. The name
"cri du chat" comes from the French term meaning "cry of the cat," as
affected infants often produce a high-pitched, resembling the cry of cat.
This condition affects about 1 in every 50,000 live births and is more
common in females. The condition is caused by a deletion of genetic
material from chromosome 5, usually occurring without any family
history. Rarely, it can be inherited from a parent who carries a balanced
translocation involving chromosome 5.
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 People with cri du chat syndrome may exhibit physical characteristics

such as microcephaly (a smaller than average head size), low set ears,
wide-set eyes, a small wide nose and mouth, and a small chin. They
may also have intellectual and developmental disabilities, ranging
from delayed development and learning difficulties to more severe
intellectual impairments. In addition to these features, these
individuals may experience health concerns such as heart defects,
difficulty feeding in infancy, gastroesophageal reflux, and increased
susceptibility to respiratory infections.
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DISCUSSION OF THE DISEASE

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MEDICAL HISTORY

 The Discovery

Cri du Chat syndrome was first discovered in 1963 when Dr. Jerome
Lejeune observed the characteristic features in a group of children. He
later identified the genetic basis of the syndrome, which involves a
deletion on the short arm of chromosome 5 (specifically, the 5p15.2
region).
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 Incidence:

Cri du Chat syndrome is a rare genetic disorder, occurring in

approximately 1 in every 20,000 to 50,000 live births. It is more common
in females than males.

 Genetic Basis

The primary cause of Cri du Chat syndrome is a partial deletion of

chromosome 5. This chromosomal anomaly is typically a de novo
mutation, meaning it occurs sporadically and is not inherited from the
parents.
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 Symptoms

The syndrome is characterized by a range of physical and developmental

abnormalities, including intellectual disability, delayed speech and
language development, microcephaly (small head size), low birth weight,
distinctive facial features, and various congenital heart and kidney
abnormalities.

 Prognosis

The prognosis for individuals with Cri du Chat syndrome varies

depending on the severity of their symptoms and the extent of medical
and therapeutic interventions. With appropriate care, many individuals can
lead fulfilling lives and achieve some degree of independence.
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PATHOPHYSIOLOGY

 This deletion most often occurs randomly during the formation of

reproductive cells (eggs or sperm) in early fetal development. This
characterized by a distinctive, high-pitched, catlike cry in infancy with
growth failure, microcephaly, facial abnormalities, and mental
retardation throughout life.Sometimes, material from another
chromosome is missing as well self injurious behaviour, repetitive
movements, hypersensitivity to sound, clumsiness, and obsessive
attachments to objects. The disorder is characterized by intellectual
disability and delayed development, small head size (microcephaly ),
low birth weight, and weak muscle tone (hypotonia) in infancy
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MEDICATION

 There are no specific medications to treat the underlying genetic cause

of this syndrome. However, doctors may prescribe medications to
manage certain symptoms or conditions that can occur alongside Cri
du chat syndrome. These medications are typically prescribed based on
the individual's specific needs and may include:
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 1. Seizure medications:

Some individuals with Cri du chat syndrome may experience seizures, and
anticonvulsant medications can be prescribed to manage them.

 2. Medications for respiratory issues:

If there are respiratory problems such as recurrent infections or breathing

difficulties, doctors may prescribe medications to address these issues.

 3. Behavioral medications:

In some cases, individuals with Cri du chat syndrome may exhibit

challenging behaviors, and medications may be considered to manage
these behaviors.
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 Note: Currently, drug therapy is not a component in the standard of

care for cri-du-chat syndrome. Therefore the choice of medications
and treatment approach should be individualized and determined in
consultation with a healthcare professional who is familiar with the
specific needs and medical history of the person with Cri du chat
syndrome. Additionally, ongoing therapies and supportive care, such
as speech therapy and physical therapy, are often essential components
of management for individuals with this syndrome.
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LABORATORY

 Although there is no specific laboratory test for Cri du chat syndrome,

it is usually diagnosed based on clinical features and genetic testing.
However, some laboratory tests can confirm the diagnosis and check
for related health issues. For example:
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 A specific test known as fluorescence in situ hybridization (FISH) may

be used to confirm a diagnosis of cri du chat syndrome. This is a
molecular cytogenetic technique used to examine the specific deletion
on chromosome 5 more precisely. It involves using fluorescent probes
that bind to specific DNA sequences to visualize the presence or
absence of genetic material on chromosome.
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TREATMENT

These are some treatments and interventions for individuals with Cri du
chat syndrome:

 1. Speech therapy: this can help improve communication skills and

enhance social interactions.

 2. Special education: special education programs can be helpful to

ensure they receive appropriate educational interventions that address
their specific needs.
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 3. Supportive environment : Providing support and understanding

from family and friends is important for individuals with Cri du chat
syndrome.

 4. Medical management: To monitor and manage any associated

medical conditions that may occur with Cri du chat syndrome.
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CONCLUSION
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 In conclusion, Cri du Chat Syndrome presents unique issues that dema

nd a multifaceted approach to treatment.
Understanding the medical history, comprehending the underlying path
ophysiology, applying suitable test diagnostics, and adopting tailored tr
eatments are critical components in improving the quality of life for pe
rsons affected by this rare genetic condition.
Continued research and a coordinated healthcare strategy are essential
for enhancing our knowledge and improving outcomes for persons suff
ering from Cri du Chat Syndrome.
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