Cri Du Chat Syndrome

 ...A Rare Genetic Disorder, CRI DU CHAT Syndrome.

 What is Cri Du Chat Syndrome?

• Cri Du Chat Syndrome results from the loss or deletion of a significant portion of the genetic material from the short arm of one of the pair of number five chromosomes.
• Cri Du Chat Syndrome is also known as 5P Minus syndrome, Le Jeune's syndrome and Cat's-cry syndrome.
• It is a rare genetic condition with an estimated incidence of 50 - 60 children born a year
• In most cases the deletion is spontaneous and no specific cause can be identified. The parents did nothing wrong to cause it to happen.
• At present it is not possible to predict how severely affected the baby will be.
• There is no treatment for major genetic anomalies however there is therapy to help the child achieve his or her developmental potential.
   

Characteristics of the syndrome

The most distinctive characteristic, and the one for which the syndrome was originally named in 1963 by geneticist Jerome Lejeune, is the distinctive high-pitched, monotone, cat-like cry. "Cri du Chat" is French for "cat's cry". The cry is thought to be the result of structural abnormality and low muscle tone.  Although the voice will naturally lower as the child grows, the characteristic high pitch often persists into adulthood.

In addition to the cry, there are a number of distinguishing characteristics present in infancy which aid in recognition of the syndrome. Not every child will have every feature. 

Babies are often of low birth weight and many require help with feeding in infancy. Feeding difficulties often persist for the first few years with many experiencing reflux and swallowing problems. 

Some Problems We May Face In Taleigha's Life Due to the Condition

• Heart defects (commonly Ventral Septal Defects and Atrial Septal Defects and rarely tetralogy of Fallot and endocardial cushion defects)
• Cleft Palate occurs but is rare
• Kidney abnormalities are also rare
• Minor skeletal problems including hip dislocation and deformities of the feet
• Scoliosis develops in some children
• Hernias (inguinal and abdominal) are sometimes present at birth
• Bowel abnormalities
• Epilepsy is not common
• Swallowing and sucking problems are often present in the newborn and swallowing problems may persist
• Problems with intubation for anaesthesia have been reported in a small number of cases due to malformations of the larynx and epiglottis 
• Minor hearing impairments. Hearing impairment is occasionally severe and requires hearing aids.
• Strabismus or turned eye is fairly common and should be attended to as most do not grow out of it and it does affect vision. Treatment may help.
• Other visual problems.
• Low muscle tone (hypotonia) is common in infancy and may change to high muscle tone (hypertonia) later in life. Physiotherapy is an important aspect of intervention.
• Difficulty with sucking and swallowing (dysphagia). Sucking may be very weak and the child may gag and cough when swallowing. Swallowing should be investigated since aspiration pneumonia may occur and treatment is possible.
• Gastrointestinal abnormalities are present in some babies.
• Gastric reflux is common in infancy and usually requires treatment.
• Chronic constipation is common. It often starts in the first year or two and usually persists throughout life. It is can be well-managed in most cases.
• Frequent ear infections - many children with cri du chat syndrome have ear infections often requiring grommets in childhood.
• Saliva control problems (drooling). In severe cases that have not resolved when the child is older, surgery is available to help correct this.
• Dental problems are common.
• Feeding problems. Often not interested in eating.
• Failure to thrive. Due to illness, refusal to eat or drink or severe reflux.

What We May Face Developmentally with Taleigha

The effects of this syndrome on the child are extremely variable but almost all children with this syndrome have a degree of intellectual disability, delayed speech and language acquisition and slow development of motor skills. Although problematic behaviors are not uncommon, they are usually bright, loving and sociable children with a great sense of humour who occupy a valued position within their families and communities.

Major developmental issues in Cri Du Chat syndrome

• Intellectual disability ranging from mild to profound with the majority being moderate to severe
• Speech and language impairment varying from mild to profound. Research has shown children with cri du chat syndrome have better receptive than expressive language which means they can understand more complex language than you would expect based on their ability to speak. A small number do not speak at all but all can communicate with one or a combination of methods. Early consultation with a speech pathologist is important as is the early introduction of alternate means of communication.
• Low muscle tone and delayed motor development. The majority walk, most between 2 and  6 years of age. Physiotherapy is an important part of early intervention.
• Short attention span (almost 100%).
• Hyperactivity (approximately 25%)
• Challenging behaviours including obsessive, repetitive and sometimes self-harming behaviours such as head-banging and hitting, biting or scratching self. 

No one can determine at birth how much a child will be affected by this syndrome and the best course of action for carers is to do as much as they can to maximize the child's developmental potential and provide her with as many opportunities to live as normal a life as possible.