Why do infants with Cri-du-chat syndrome have a cat-like cry?
There are two reasons that infants with Cri-du-chat syndrome are thought to have a cat-like cry. The first reason has to do with the shape of the airway. The larynx (the tube connecting the mouth to the lungs) can be small and shaped like a diamond in individuals with Cri-du-chat syndrome. Additionally, the epiglottis (the flap that covers the airway when swallowing food or water) can be small and weak. These physical changes in the airway may contribute to the cat-like cry typical in infants with Cri-du-chat syndrome.
Additionally, it is thought that differences in the brain of individuals with Cri-du-chat syndrome may cause the person to not make a typical crying sound.
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Are there any specific behaviors to expect in children with Cri-du-chat syndrome?
Some studies show that children with Cri-du-chat syndrome tend to be loving and gentle. Approximately half of children with Cri-du-chat syndrome have symptoms of increased activity, called hyperactivity. Some children with Cri-du-chat syndrome have a tendency to be clumsy and/or sensitive to sounds. Others may have an attachment to certain objects like toys, and repeat particular movements over and over. Early intervention programs help children learn to manage their behaviors. Children who are enrolled in early intervention programs can often manage their own behavior better than those who do not have these services.
Can people with Cri-du-chat syndrome have children?
Individuals with Cri-du-chat syndrome may not have children as a result of developmental, behavioral or social problems. However, individuals with Cri-du-chat syndrome may have normal fertility, and if an individual with Cri-du-chat syndrome has a child, the chance of recurrence in that child is 50%. There has been a report in the medical literature of a person with Cri-du-chat having a child.
If I have a child with Cri-du-chat syndrome, how likely is it that I will have another child with Cri-du-chat syndrome?
In approximately 85% of individuals with Cri-du-chat syndrome, the chromosome deletion occurred as a new event in the formation of the egg or sperm used in the conception of that child (referred to as de novo), as opposed to being inherited from a parent. In the additional approximately 15% of individuals with Cri-du-chat syndrome, a parent, while unaffected with Cri-du-chat syndrome, may have a chromosome rearrangement (translocation) that predisposes the chromosome deletion that causes Cri-du-chat syndrome in the child. To determine the chance of recurrence of Cri-du-chat in a subsequent child after a couple has had one child with Cri-du-chat syndrome, it is important to determine if either of the parents carry a chromosome rearrangement such as a translocation which can predispose a chromosome change such as Cri-du-chat syndrome in a child.
When an individual is affected with Cri-du-chat syndrome as a result of a de novo event, the chance that another child in the same family would also have Cri-du-chat syndrome is fairly low (<1%). When a parent carries a chromosome translocation or other rearrangement that may predispose to Cri-du-chat syndrome, the risk of recurrence in a future child may be much higher. Depending on the specific chromosome rearrangement in the parent, the risk for recurrence in a future child has been reported to be as high as 20%.
Families who would like more information about the genetics of Cri-du-chat syndrome, their recurrence risks for Cri-du-chat syndrome in a future pregnancy, and/or a discussion about their reproductive options may benefit from genetic counseling. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.
How long do people with Cri-du-chat syndrome live?
Approximately 10% of children with Cri-du-chat syndrome die in the first year of life from complications of Cri-du-chat syndrome. However, most individuals with Cri-du-chat syndrome live into adulthood. There are adults with Cri-du-chat syndrome in the medical literature who have been reported to live over the age of fifty. With better treatments available to treat some of the symptoms of Cri-du-chat syndrome, the life expectancy for individuals with Cri-du-chat syndrome may further improve.
If I have a translocation, can I reduce my chances of having another child with Cri-du-chat syndrome?
If the cause of Cri-du-chat syndrome is due to a translocation (rearrangement of genetic material) in one of the parents, there is no way to impact the chances of recurrence of Cri-du-chat syndrome in a pregnancy conceived naturally. Prenatal screening and testing for Cri-du-chat syndrome is available starting around the end of the first trimester of pregnancy, at the parents' discretion.
However, the likelihood of a parent with a translocation having another child with Cri-du-chat syndrome can be reduced if the parents consider in vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD). IVF involves taking an egg from the mother and fertilizing it with sperm from the father in the laboratory. PGD can be performed prior to transferring embryos back to the womb to determine which embryos have chromosome imbalances and which have normal chromosomes. The parents may choose to have only embryos that are chromosomally normal transferred into the womb of the mother.
Parents who are interested in more information about IVF and PGD may benefit from a consultation with a reproductive endocrinologist.
Another way to reduce the chance of having a child with Cri-du-chat syndrome is for parents to choose to use an egg or sperm donor in place of the eggs or sperm cells of the parent with the translocation. A reproductive endocrinologist or other fertility specialist could help a family interested in exploring these options.
Can a child with Cri-du-chat syndrome go to school?
Children with Cri-du-chat syndrome attend school. However, children with Cri-du-chat are expected to have learning and/or behavioral difficulties. School age children with Cri-du-chat syndrome may require special education support to maximize their educational potential.
What is done in speech therapy for children with Cri-du-chat syndrome?
Speech therapy for children with Cri-du-chat syndrome can include answering simple questions, identifying pictures, and a variety of other exercises to improve communication. Some individuals with Cri-du-chat syndrome benefit from augmentative and alternative communication (AAC). This means using an electronic device to help communicate with others.
By what age should my child with Cri-du-chat syndrome be enrolled in early intervention?
Early intervention is a system of services that helps babies and toddlers with developmental delays or disabilities. Most children with Cri-du-chat syndrome would benefit from starting early intervention before a year of age. Your child's healthcare team will be able to help you connect with services that your child needs.
To learn more general information about early intervention, please visit the Center for Parent Information and Resources through the U.S. Department of Education at http://www.parentcenterhub.org/repository/ei-overview/.
Are there any awareness activities for cri-du-chat syndrome?
The International Cri Du Chat has sponsored awareness activities for Cri-du-Chat syndrome. Some activities include virtual 5k and social media campaigns. For more information about current awareness activities contact International Cri Du Chat.