About Cri Du Chat Syndrome  

              

                 

               

Cri Du Chat Syndrome

History

In the United States, approximately 50 to 60 children are born with 5p- Syndrome (five p minus), also known as Cat Cry Syndrome or Cri Du Chat Syndrome. 5p- Syndrome is characterized at birth by a high pitched cry, low birth weight, poor muscle tone, microcephaly, and potential medical complications. "5p-" is a term used by geneticists to describe a portion of chromosome number five that is missing in these individuals. Children born with this rare genetic defect will most likely require ongoing support from a team of parents, therapists, and medical and educational professionals to help the child achieve his or her maximum potential.  During the early 1980s, research revealed that those raised in family settings with the benefit of intense early intervention programs made remarkable progress, far exceeding the expectations of doctors who first described the syndrome.  Nearly all children with 5p- Syndrome have poor muscle tone when they are young. A small number of children are born with serious organ defects and other life threatening medical conditions, although most individuals with 5p- can anticipate a normal life expectancy. Cri-Du-chat syndrome (CDCS) is a relatively rare chromosome disorder affecting approximately 1 in 37,000-50,000 live births.  A deletion occurs, when there is a loss of material from one chromosome because of either one break (a terminal deletion) or two breaks (an interstitial deletion). Recent molecular research has further highlighted a ‘critical region’ on chromosome 5 (5p15.2) that appears to be specifically involved in displaying the classical features of Cri- Du- Chat syndrome. If the deletion breakpoint includes this ‘critical region’ the characteristic features diagnostic of the syndrome will be present. Usually the loss from the short arm of chromosome 5 is purely accidental and thus the risk of recurrence is very low, no greater than the original risk of 1 in 37,000-50,000. In 80-95% of cases, the genetic material is lost from the end of chromosome 5 (terminal deletion). When the parental chromosomes of the children with terminal deletions are found to be normal, the deletions are referred to as ‘sporadic’. However, in 10-15% of cases this deleted chromosome is inherited from a parent. When this occurs the risk of having another affected child is much greater than when the syndrome results from a sporadic deletion. It is also important to note that a growing number of studies have described individuals with 5p deletions outside the critical region. Diagnoses most often these individuals present with the cat-like cry from which the syndrome derives its name but not severe learning disability or significant developmental delay. These studies highlight the importance of careful and accurate differentiation between deletions that result in the typical CDCS profile and those that result in an atypical, milder profile. At birth, the main clinical diagnostic feature of the syndrome is a high pitched, monochromatic ‘cat-like’ cry that is always present in the new-born but may disappear with age. Other features include a round, full face ("moon face"), widely spread eyes (hypertelorism), an extra fold of skin at the inner corners of the eyes (epicanthal folds), a flattened and widened nasal bridge and ears that are positioned low on the head. Most children with CDCS will have feeding problems from birth including failure to thrive, poor sucking and slow weight gain. They may also be some medical complications but these will not affect every child.

    Feeding concerns in childhood          

Children with CDCS need vitamins, minerals, protein and carbohydrate just like other children. Difficulties in sucking, swallowing and chewing Often, lead to a prolonged use of pureed foods and delayed introduction to solids.  However, as with other children with feeding problems, the initial cause of the problem, can be followed by persistent, difficult to correct behavior patterns. It is therefore, crucial that parents and doctors can be advised to be alert for the signs that their, child is developmentally ready for the introduction of soft, mashed food, then finger, feeding of large pieces of food which are soluble in the mouth to prevent choking, next finger feeding of smaller pieces of food and on then to more textured food, from the family’s meals. Any parent or career anxious about a feeding problem should seek professional advice. There may be a simple solution to the problem, but if not then an interdisciplinary assessment of the developmental, nutritional and behavioral aspects of the problem will aid the drawing up of a treatment program.  We have also found that even though many parents experience feeding problems with their infant or child leading to concerns about compromised nutritional status, the blood levels of a whole range of important nutrients appear to more than adequate.  With these findings, we hope that parents will be reassured to know all your efforts in trying to ensure the provision of adequate nutrition to your children are not in vain.

Feeding concerns in infancy 

         Several recent studies have reported that feeding difficulties in infancy are very common in CDCS children. In one study, 63% of parents reported that their child had had feeding difficulties in the neonatal period, associated with poor sucking (47%), reflux vomiting (42%) and failure to thrive (47%). Some parents have also reported that as a new-born their child had been unable to suck and breathe simultaneously.  Poor muscle tone (hypertonia) can also cause a poor sucking response. The baby will have a weak suck and milk will leak from the mouth making it very difficult for the baby to take in enough milk to meet energy requirements.

Feeding Options

Tube feeding may be necessary to ensure that the child does not fail to thrive while the sucking response is poor. Tips which have proved helpful with babies with a poor suck include making sure that the infant is wide awake before attempting feeding, extra support for the infant during feeding, and supporting the infant’s chin during feeding to help steady the jaw. Parents have reported very varied responses by the medical profession to these feeding problems in infancy. It is important that parents ask for help if it is not offered. Although medical staff may have little or no experience with infants with CDCS they will have extensive experience in dealing with hypotonic and low birth weight babies with feeding problems.

Early Developmental Milestones

Most children with CDCS will reach their developmental milestones later than typically developing children but with the help of intensive early therapeutic interventions, most children will eventually reach major milestones including learning to sit up, crawl, walk, and eat independently.  What is important to remember is that every CDCS child is unique and not all children will perform at the same level at exactly the same time.

Motor difficulties

The majority of CDCS children will experience some problems in motor control particularly in skills that require the use of motor co-ordination (e.g. walking, dressing and feeding self) and fine motor skill (e.g. holding a pencil). There is now growing evidence to indicate that the majority of children will acquire some degree of mobility and dexterity. For example, many children are able to sit independently and to feed themselves to varying degrees.  Walking is also achieved by many CDCS children, although almost all will experience co-ordination problems which make them appear overly clumsy.   Both children and adults with this syndrome are usually friendly and happy, and enjoy social interaction. With early and consistent educational intervention, as well as physical and language therapy, children with 5p- Syndrome are capable of reaching their fullest potential and can lead full and meaningful lives.

Growth Charts coming soon!