Cri Du Chat

external image image010.jpg
"The Cry of the Cat"
Cri Du Chat is a rare genetic disorder which occurs in approximately 1 out of every 50,000 births in the United States each year.

Amongst all genetic disorders, Cri Du Chat affects 1.5% of the mentally retarded population.
external image brada.jpg

The name Cri Du Chat translates to the cry of the cat because one of the most prevalent symptoms first recognized in infancy is a high-pitched cat-like cry. This is the result of abnormal development of the larynx.

In most cases, a person with this disorder’s mental retardation is severe. Those with this syndrome struggle with delays in development of motor and verbal skills. In most cases, both intellectual and physical development is slower and later than usual. With age, they begin to have difficulties with walking and talking. Speech and communication are very difficult for people with this disorder and they often can understand more than they can express verbally.
external image criduchat1.jpg

Behavioral issues common with Cri Du Chat are hyperactivity, problems concentrating, and aggression that can lead to tantrums. Aggressive fits often include violent behavior and hurting oneself or being destructive. Hyperactivity constant repetitive movements can cause problems with feeding and sleeping. People with Cri Du Chat are often very emotional and can be very moody and unpredictable.

There are many physical abnormalities associated with this syndrome, both skeletal and muscular, and one some rare occasions can affect the heart and other organs of the body.
external image cri-du-chat.gif

In infancy, other than the high-pitched cry, characteristics of the disorder prevalent at birth include low-weight, poor muscle tone, asphyxia, and impaired suction when feeding. Symptoms may not always show from birth, but as the child develops physically and cognitively in their infant and toddler years, they become more noticeable.

People with Cri Du Chat typically have a smallhead with a round face and a slender body. Feet and hands are often smaller than usual.

external image Cri-du-Chat-Syndrome.jpg
Characteristics of the face include:
external image earabnormal.jpg

  • Wide set eyes with epicanthic folds
  • Downward slanting eyelids
  • Low set ears
  • A broad nasal bridge
  • A small jaw
  • Downturned corners of mouth

external image Criduchat.jpg

As a child with this disorder ages, their face changes significantly. The face becomes more long and narrow and the supraorbital arch protrudes. Palpebral fissures of the eyes become more horizontal rather than slanting downward. The lower lip fills out more and there is usually a dental malocclusion causing an open bite.

Cri Du Chat Syndrome is also sometimes called 5p- Syndrome due to its origin. This genetic disorder is caused by a missing piece of genetic material from the short arm of chromosome 5. Symptoms of this disorder are a direct result of missing genes on this chromosome. An important gene that is known to be deleted from this chromosome is telomerase reverse transcriptase, or TERT which keeps the tips of chromosomes in place during cell division.
external image cri-du-chat_diagram.gif

Cri Du Chat is a genetic disorder that causes major problems within the central nervous system. Effects on the nervous system which are prominent in individuals with Cri Du Chat are intellectual disabilities, physical abnormalities, delays in physical and cognitive development, poor fine motor skills, and weak muscle tone. The severity of mental retardation varies, but with rehabilitation and socialization some affected with the disease can lead normal self satisfying lives. At birth, those with Cri Du Chat have very low weight and through development stay slender. Other physical traits of this are small hands, feet, and head, as well as facial abnormalities. Slow development affects motor skills, cognition, and behavior. Weak muscle tone in the face during yearly childhood can make sucking or eating difficult, as well as speech production.

Respiratory problems can occur at birth because most with this syndrome have a very low birth weight. Respiratory infections are common in infancy and those affected are prone to getting them frequently. Poor muscle tone in the face can make breathing and coughing up phlegm a struggle.
external image sindrome-cri-du-chat-sindrome-.jpg

Differences in development in the phonatory system cause the cat-like cry that the disease is named for. Parts of the phonatory system altered due to Cru Du Chat are a smaller larynx, shorter vocal cords. The larynx controls pitch and because it is smaller than usual in this case, pitch is much higher during a cry and the person’s voice will be high pitched. Voicing can be difficult due to these impairments as well as weakness in muscle control.

external image larynx.JPG

The articulatory problems associated with this disease are protruded lips, an open bite, cleft palate, cleft lip, weak oral motor skills, and lack of muscle tone in the muscles of articulation. In speech, articulation problems in those with the disease occur in the production of consonants.
The auditory system of those who have Cri Du Chat is much more sensitive and loss of hearing can occur if ear infections in childhood go untreated.

Speech production and language acquisition are extremely delayed in individuals living with Cri Du Chat. Most children do not start speaking until ages three to six and when the do being to speak the high pitch much like their cry is very noticeable. The combination of physical challenges of the bodily systems and their ability to understand the language, which can vary on both levels between individuals, makes speech very difficult for a child with Cri Du Chat to gain a complete grasp of. About half of all people with this disorder have enough verbal skills to communicate through speech alone. Others can get by with a limited vocabulary using short phrases, gestures, or sign language.

This is a video of a girl with Cri Du Chat: