What is Cri du Chat Syndrome?
In 1963, a French geneticist, Jerome Lejeune, recognized several patients that had similar characteristics, one of which was a high-pitched cat like mewing cry. He named the syndrome Cri du Chat because of that distinct characteristic. Cri du Chat is French for “cry of the cat.” The word “syndrome” means a group of symptoms that together are characteristic of a specific disorder. Cri du Chat Syndrome occurs because there is the loss of genetic material (deletion) of a portion of the short arm of one of the fifth chromosomes.
Cri du Chat Syndrome is a rare genetic condition. It occurs in approximately 1:35,000 live births. Cri du Chat Syndrome is considered the most frequent deletion syndrome in humans. Cri du Chat Syndrome is also called 5p- Syndrome, 5p Minus Syndrome or 5p Deletion Syndrome. The “5” meaning the fifth chromosome; the “p” meaning the p arm (short arm) of the chromosome (above the centromere); and the “-“or “minus” referring to the deletion that occurs. These events are not predictable and the syndrome cannot be “blamed” on anyone. Individuals with Cri du Chat Syndrome typically have enough matter missing to be visible on a karyotype (mapping of the chromosomes that is done in a laboratory), but in order to find the specific breakpoint, FISH analysis is needed. The deletion is terminal and can be a single breakpoint, or two breakpoints (interstitial) of the short “p” arm. In some cases the deletion derives from other chromosomal rearrangements such as unbalanced translocation, mosaicism, inversion or ring chromosome. In most cases the deletion results from a “de novo” mutation. “De novo” means that it just happens for no known reason, and the parents have normal chromosomes. In 10-15% of cases one of the parents is a carrier of a chromosomal abnormality, known as a translocation. (This translocation can be present in several generations of the same family) The parent, not showing any signs of having the syndrome itself, unknowingly transfers the abnormality to his/her offspring. Because of this, it is the recommendation of the 5p- Society for parents to have their chromosomes tested after the confirmed diagnosis of their child.
As stated above, the main characteristic is the high-pitched mewing cry, other characteristics:
- Round moon shape face with a small chin
- Wide set eyes
- Folds on the inner corner of the eyes
- Small head circumference
- Slow growth
- Low birth weight
- Weak muscle tone
- Dislocation of hips
Individuals with Cri du Chat Syndrome may also have (not all have)
- Cognitive delays-varies per individual
- Fine motor delays – difficulty with writing
- Gross motor delays – difficulty with walking
- Speech and language delays – some will not talk, but will communicate instead through sign language or communication devices
- Problem behaviors such as hitting, pinching, kicking and biting that are associated with the syndrome include over activity, restlessness, impulsiveness, inattentiveness and distractibility
- Hyperactivity is the most prevalent behavior problem associated with the syndrome; some children are dual diagnosed with Attention-Deficit Hyperactivity Disorder (ADHD).
- Short attention span and self-stimulation behaviors
- Communication and language development delays
- Constipation issues
- Malocclusions in the mouth (crowding of teeth)
- Sleep difficulties
- Feeding difficulties
- Weak pulmonary system
- Aliments of the Heart
What to do when a parent finds out their child has been diagnosed with Cri du Chat Syndrome?
Don’t panic!! It’s okay to cry; it’s okay to grieve; it’s okay to vent.
After the diagnosis the parent will see a genetic counselor. Depending on the counselor’s experience, he/she may or may not give accurate information. Just remember, each child will have his or her own timeline. It will be hard not to compare the child with Cri du Chat Syndrome with other “normal” children his or her age. Children with Cri du Chat Syndrome can do a lot more than what you will be told . . . . at their own pace.
Before too long parents become the experts on the syndrome. They will know more about the syndrome than the doctors, the therapists, or the teachers. They become the great educators!! Parents will soon learn terms they didn’t even know existed, and will become advocates and the voice for their child.
Parents should look into early intervention, speech therapy, physical therapy, and occupational therapy. Sign language and other forms of communication through devices should be introduced early in the child’s life. A child with Cri du Chat Syndrome will learn and retain more than what they are able to express. Because of this a child will become frustrated and may develop undesirable behavioral issues. Parents, therapists, and educators should all work together in the overall education of the child and create sustainable goals. The accomplishment of simple goals and milestones are to be celebrated!! Focus more on what the child can do and not so much on what one is told they cannot or will not do!
It is crucial for parents to network successfully through the global Cri du Chat Syndrome support organizations to gain a sense of relief, and to realize that they are not alone in their journey. By developing links with other families of individuals with the syndrome, parents learn that a wide variation exists in ability levels for individuals with Cri du chat Syndrome at all ages. Families are able to access strategies that have worked with other children with the syndrome. Parents are encouraged to use a total communication approach and to encourage their children, who typically tend to be complacent, to work. Knowing about different abilities between children may encourage families to participate in intensive early educational training.