The facial features change as the child reaches adolescence with the face becoming elongated, the nasal bridge high and the epicanthic folds less distinct.  The head remains smaller than normal throughout life but is not particularly noticeable.

Many children who have Cri du Chat syndrome will experience delays in reaching developmental milestones.  However, with therapeutic intervention, most children eventually learn to crawl, walk, and eat independently.

Nearly all children with Cri du Chat also demonstrate great difficulty in developing speech, and may require some type of augmentative communication, such as sign language and electronic devices.  There has been reported success in using picture cards or boards as well.

Generally, though, individuals with Cri du Chat seem to be happy, loving, and social.  Regardless of what negative information is available, always remember that Cri du Chat does not affect the intrinsic worth of a child.  There may be limitations imposed by the syndrome, but the potential to live a fulfilling and rewarding life is immeasurable!

Problems reported in those with Cri du Chat Syndrome:

Medical problems found in a minority of children:

• 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 anesthesia have been reported in a small number of cases due to malformations of the larynx and epiglottis
  

Additional problems which may be noticed as the child gets older:

• 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 (dysphasia). 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.
  

• Sexual development is usually normal and female fertility is possible since some instances of pregnancy have been reported.
  

• 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.
  

Problems reported by parents that have not been reported as a feature of  the syndrome:

• Sudden, transient, high temperatures without obvious infection or illness. These should be reported to your doctor for further investigation.
  

• Apnea (breathing stops occasionally, usually during sleep). This may not be related to the syndrome but is occasionally reported to us by parents. If this condition exists it must be monitored as it can lead to other problems with health and behavior.
  

• Frequent upper respiratory infections. The increased rate of infection has not yet been identified as the result of a specific immune abnormality in this syndrome. Babies and children may develop pneumonia either from infection or from aspiration of food or liquids. Tests are available to determine if  swallowing is likely to be causing infection or pneumonia.
  

• Sleep disorders. Early intervention and management is important to prevent long term difficulties. Behavior problems can be exaggerated in children who are getting insufficient sleep.
  

• Sensory defensiveness including one or more of the following:
  

• Sensitivity to sound - often only particular frequencies.
  

• Tactile defensiveness. Sensitivity to touch on parts of the body usually the hands, feet, head and face.
  

• Oral defensiveness (also called oral aversion or oral tactile sensitivity).
  

Life expectancy cannot be predicted and although a few children with serious health problems may have a reduced life-span, it is thought that most live well into adulthood. The oldest person reported to us to date was in her sixties.

In the past, doctors believed this syndrome resulted in severe to profound disability in all cases, however, early researchers like Professor Erik Niebuhr of Denmark, discovered that this is an extremely variable syndrome. The level of disability can range from very mild developmental delay to profound physical and intellectual disability. Most cases at present appear to fall into the moderate to severe range but even this is uncertain since more mild cases are being diagnosed.

The development of more sophisticated genetic testing technology has uncovered an increasing number of children who are only mildly affected  but are only now being diagnosed. They have  fewer of the features or problems usually associated with Cri du chat syndrome and those features are usually less obvious. They also have greater developmental potential than was previously thought possible for children with this syndrome.

Development

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 humor 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. Physical therapy is an important part of early intervention.
  

• Short attention span (almost 100%).
  

• Hyperactivity (approximately 25%)
  

• Challenging behaviors including obsessive, repetitive and sometimes self-harming behaviors 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 him or her with as many opportunities to live as normal a life as possible.

Treatment

Gene therapy is in its infancy and no techniques have yet been developed to treat these types of large chromosomal abnormalities. Although it is possible that some of the effects of this genetic deletion may eventually be treated by this method, it is unlikely in the near future.

Most of the medical problems can be treated successfully with current medical treatments. Early intervention programs, using a variety of therapies and educational strategies, focus on enhancing physical, intellectual, sensory and social development and have been shown to greatly improve the future outlook for the child.

Early Intervention Programs Should Include:

• Physical Therapy
  

• Speech Therapy
  

• Occupational Therapy
  

• Behavioral management (if necessary)
  

Since most children with the syndrome experience severe speech development problems, speech and language therapy are vital. The early introduction of alternative means of communication, including a sign language such as Makaton along with a pictorial symbol system, will enhance the child's speech development,  language acquisition and behavior. Children with Cri du Chat syndrome are usually keen to communicate and many will develop their own signs and gestures to get what they want often preferring these to the more difficult formal signs. Children who cannot communicate effectively experience a great deal of frustration and behavior problems can develop as a result.

Improving a child's ability to communicate by any means not only helps them to  make their needs known, but also helps them to develop intellectually and socially, improving the quality of their lives immeasurably.

Older children and adults who have not acquired adequate speech may benefit from using a communication device.

The level of independence a particular child achieves depends on their own inborn potential combined with the skill of those training them. Those most severely affected  require full-time care throughout their lives.  Most people with Cri du Chat syndrome are capable of achieving a degree of independent self-care but require supervision and care for life.  Some of those least affected by the syndrome are be able to live independently (or with minimal assistance) in the community.

Education

Children with Cri du Chat syndrome in the United States attend both mainstream and special schools and pre-schools. Although full inclusion should be the goal for all children with disabilities, decisions regarding placement in either a special or mainstream educational setting must take into account the most appropriate setting for the individual child, the education policy of the local government, available support and the wishes of the family.

Most children with Cri du Chat syndrome in a mainstream setting will require a teacher's aide to assist them although a few are able to manage with minimal assistance.

Research

Research in the past has been concentrated in the area of medical genetics with very limited investigation of the developmental and behavioral aspects of the syndrome.

Current genetic research into Cri du Chat syndrome is aimed at locating and identifying  the critical genes responsible for the various features of the syndrome. The gene locations for the cry and the other features were found to be on separate bands of the chromosome. (see Diagram 1 below)

Researchers in the field of behavior are still working to assess and describe the different aspects of development and behavior which characterize this syndrome. The long-term goal is to more accurately target the various available interventions and therapies so that our children can live up to their potential and lead happier, more fulfilling lives.

Developmental researchers have been collaborating with genetic researchers for a number of years in an attempt to define how the varying genetic combinations (genotype) occurring in this syndrome affect the development and features a particular individual displays (phenotype). This collaboration assists the geneticist to track down the location of  particular genes and identify their activity. In the future it is hoped that it will help developmental specialists to predict how severely a particular child's development will be affected. This is not possible with our current level of knowledge.

Prominent English-speaking researchers in the field include:

• Professor Erik Niebuhr, Medical Genetics, Denmark
  

• Dr. Kim Cornish, Child development & genetic disorders, UK.  Recently moved to Canada.
  

• Dr. Joan Overhauser, Medical genetics, USA
  

• Dr. Andy Simmons, Genetics, USA
  

• Dr. Elisabeth Dykens, Behavior and development, USA
  

• Dr. Robert Hodapp, Behavior and development, USA
  

There are many others not named who collaborate with these researchers or work independently and many in non-English-speaking countries such as Prof. Mainardi in Italy, Prof. Kristoffersen in Norway and others in Spain, China, Japan etc.

e.

So...what is Cri du Chat Syndrome anyway?

A few facts about Cri du Chat (Cree doo Shaw)

• Cri du Chat Syndrome is the result of a 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-cry Syndrome.
  

• It is a relatively rare genetic condition with an estimated incidence of 1:50,000 births.  By contrast, Down Syndrome occurs in 1:700 births.
  

• Approximately 13% result from an error in a number five chromosome in either parent.  In these cases, subsequent children or relatives can also be affected and it is therefore important that all parents of children with this syndrome receive genetic counseling.
  

• Sometimes a second chromosome is involved.
  

• It is thought that more girls than boys are born with the syndrome.
  

• The critical region of the chromosome containing genes which are responsible for the main features of the syndrome appears to be located in band 5p 15.2.
  

• The gene causing the cry is thought to be located in band 15.3.  This would explain why some babies with other features of the syndrome do not have the characteristic cry and some babies have the cry but not the other characteristics.
  

• In most cases the deletion is spontaneous and no specific cause can be identified.  The parents did nothing wrong to cause it to happen.  It is possible to detect Cri du Chat Syndrome with amniocentesis or CVS (Chorionic Villus Sampling) in the first trimester of pregnancy.
  

• 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 reach his or her developmental potential.
  

Characteristics of Cri du Chat Syndrome

The most distinctive characteristic, and the one for which the syndrome was originally named in 1963 by geneticist Jerome Le Jeune, is the distinctive high-pitched, monotone, cat-like cry.  "Cri du Chat" is French for "cat's cry".  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. Those only mildly affected may have very few or they may be less obvious.

The size and location of the deletion appears to have some correlation with the severity of effect of the syndrome on the child. At present however, there is no way to determine with any accuracy how severely a particular child will be affected. All we can say at present is that those with very large deletions tend to be more severely affected and those with very small ones in and above band 15.2 tend to be more mildly affected. In general, babies with an unbalanced translocation are likely to be more severely affected.

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.

Identifying characteristics

• Monotone, weak, cat-like cry
  

• Small head (microcephally)
  

• High palate
  

• Round face
  

• Small receding chin (micrognathia)
  

• Widely spaced eyes (hypertelorism)
  

• Low nasal bridge
  

• Fold of skin over the inner eyelid (epicanthic folds)
  

• Distinctive palmar creases
  

• Cognitive deficits (mental retardation)
  

• Feeding difficulties
  

For more information,

please visit the following links:

To visit other children with CDC and their families, please use the following links:

Diagrams of 5p-

Julia's Deletion: 5p 13.0

This shows the break on the p arm of chromosome 5 that results in Cri du Chat Syndrome.  The separation in this picture is exaggerated to illustrate the breaking point

Here is a normal female karotype.

Although I am not sure how knowing this information really benefits us as parents, it is nice to have a visual picture of what is going on with our child's chromosomes.

Do not allow the breaking point of your child's chromosome to discourage you.  As you can see, Julia has one of the largest deletions that it is possible to have, and she is doing incredibly well.  There is no "cookie-cutter" prognosis for your child.  I feel that the best thing you can do is surround him or her in an atmosphere of unconditional love and acceptance, be consistent with therapies and the follow up activities they assign, offer lots of stimulation to all the senses, and have faith that God really IS in control.  This is the most awe-inspiring journey that you will ever take!