An overview of the cry of the cat syndrome

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Cri du Chat syndrome (French for “cri de chat”) is a rare chromosomal disease caused by missing or deleted parts of chromosome 5. Infants born with the syndrome often have a high-pitched, cat-like cry, hence the name of the disease. Since the disease is caused by missing parts of the short arm (p) of chromosome 5, Cri du Chat is also known as 5p- (5p minus) syndrome.

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Symptoms

The main physical characteristics and symptoms of Cri du Chat syndrome are caused by missing or deleted genes in the small arm (p) of chromosome 5. Researchers suspect that the specific set of symptoms associated with Cri du Chat and the severity of these symptoms, is related to the size and location of the removed or missing part of the chromosome.

Like other chromosomal disorders, the symptoms and severity of the disease vary from person to person. However, there are a few key manifestations of the disease that are noticeable from birth. These distinctive features include:

  • Low birth weight
  • Bad sucking reflex
  • Slow growth or stunted growth
  • A shrill cry and meow that looks like a cat
  • Poor muscle tone

Although not all of the characteristics, many newborns with Cri du Chat have some distinct physical characteristics, including:

  • A small head (microcephaly) and a jaw
  • An unusually round face
  • Malocclusion of teeth
  • Eyes wide apart and tilted down
  • Additional skin folds around the eyes
  • Low ears
  • “Strap” of fingers and toes (syndactyly)
  • Cleft lip or cleft palate

As children with the condition grow older, they may begin to show and experience an array of Cri du Chat symptoms, as well as other disorders commonly seen in those diagnosed with the condition, including:

  • Motor, cognitive and speech delays
  • Moderate to severe intellectual disability
  • Psychomotor disability
  • Seizures
  • Behaviors similar to those of autism, such as clapping, swaying, and sensitivity to noise
  • Scoliosis
  • Congenital heart defects (approximately 15-20% of patients)
  • Hernias
  • Behavior problems such as temper tantrums and lack of attention / impulse control
  • Walk with a slow, careful gait or need mobility aids, including wheelchairs
  • Self-destructive behaviors like banging your head and scratching your skin
  • Recurrent infections (especially respiratory, ear and gastrointestinal infections)
  • myopia
  • Constipation
  • Renal or urinary abnormalities
  • Premature graying of hair
  • Sleeping troubles
  • Potty training problems

Causes

Cri du Chat syndrome was first described in 1963 by a French pediatrician appointed Jerome Lejeune. Lejeune is best known for discovering the genetic basis of Down’s syndrome (Down Syndrome).

The disorder is thought to be very rare – only about 50 to 60 infants are born with Cri du Chat in the United States each year. The disease tends to affect women more often than men and is diagnosed in people of all ethnicities.

Although Cri du Chat is linked to genes, it is not necessarily an inherited condition. Most cases occur de novo (or spontaneously) during embryonic development. Researchers aren’t sure why these deletions are happening. Parents of a baby born with Cri du Chat due to a spontaneous deletion will have normal chromosomes. Therefore, if they have another baby in the future, it is unlikely that another child will be born with the disease as well.

In some cases, the condition occurs because genes are translocated from one chromosome to another. This causes a rearrangement of the genetic material. Translocations between chromosomes can occur spontaneously or be transmitted by a parent carrying an affected gene.

Researchers suspect that people with Cri du Chat who have severe intellectual disabilities may have deletions in a specific gene, CTNND2. More research is needed on the potential link between disease symptoms and specific genes, but as more is learned about the relationship, it is likely that the cause will be better understood. Understanding why deletions in the gene occur will be an important part of guiding diagnosis and treatment to improve the lives of people with Cri du Chat.

Diagnostic

Most cases of Cri du Chat can be diagnosed at birth with a thorough evaluation of the newborn. The main physical features of the disease, especially microcephaly, are easily identified in newborns. Other associated symptoms, such as the baby’s “cat cries”, poor muscle tone and a poor sucking reflex, are also apparent soon after birth.

A few different types of genetic test, including karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis, can be used to screen for deletions in chromosome 5 that are diagnostic of Cri du Chat.

A doctor may also order more specialized tests to determine if the deletions were spontaneous or came from a parent’s affected gene. If so, there are tests that can identify which parent has the translocated gene.

The increasing availability of more specialized genetic testing techniques has made it possible to diagnose some cases of Cri du Chat before birth.

Treatment

The severity of Cri du Chat exists on a spectrum. The experience of having, being diagnosed and treating the disease and its symptoms will be unique to each person who has it. Families with children with Cri du Chat often use many types of healthcare providers, including healthcare professionals, social workers, and education specialists. After the birth of a child with Cri du Chat, the parents are usually referred for genetic counseling.

Since Cri du Chat is often diagnosed at birth or soon after, families can immediately begin to build a support team. Early intervention helps families develop strategies to deal with the physical and emotional differences children with Cry of Cat face compared to their peers.

The majority of children diagnosed with Cri du Chat begin some form of therapy before their first birthday. This often includes a combination of physiotherapy, occupational therapy and speech therapy. If a patient has an associated health problem, such as a congenital heart defect, they will also need more specialized medical services in addition to routine care.

Parents may need to seek out community and academic resources to help children with Cry of Cat adjust to school. Special education programs are an option, depending on the type and extent of the child’s learning and / or physical disability, as well as taking into account their social and behavioral needs. Some families choose to home school their children with Cri du Chat or enroll them in specially designed schools or programs.

The life expectancy of Cri du Chat patients is not directly affected by the disease, although the complications of its characteristics, such as the development of aspiration pneumonia if they are prone to respiratory problems, may present a risk. In many documented cases, children with Cri du Chat lived to middle age and beyond. However, people with Cri du Chat are not always able to live independently. Many adults with the disease will need health, social, case management, and professional services.

Alternative and complementary therapies may also be helpful for patients with Cri du Chat, especially during childhood and adolescence. Play therapy, aromatherapy, music therapy, and therapy involving animals have all been beneficial for children with Cri du Chat.

For children with more severe disabilities, they need feeding tubes (parenteral nutrition), and those who engage in severe self-injurious behavior may require additional care. Home nurses, community living or nursing facilities are also options for families who need help to help their child live full, safe, happy and healthy lives.

A word from Verywell

Cri du Chat symptoms exist on a spectrum and can include severe intellectual and physical impairments, delays in speech or motor functions, and behavioral problems or other medical conditions, such as congenital heart defects or scoliosis. . Complications from the disease, or those that commonly accompany it, can cause serious health problems, but it is important to remember that most people with Cri du Chat live to middle age and beyond. -of the.



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