Cri Du Chat Syndrome Support Group

Physical and medical features

Growth and Feeding Problems

At birth most CDCS babies are small. Studies have reported two-thirds below the 50th percentile for length after adjusting for gestational age and almost 90% below the 50th percentile for weight. More than 50% have a head circumference below the 10th percentile. Through childhood and adolescence CDCS children tend to be shorter and lighter than the majority of children the same age in the general population. It is important to monitor growth but weight for height is a more useful comparison for this group than weight for age or height for age. A recent study of children and young people with CDCS in the British Isles found that most were small and lean but as most were at or above the 9th percentile for Body Mass Index (Body Mass Index is weight (kg.) divided by the square of height (m)) they were not disconcertingly thin for their height. At the present time, it is unclear how much of the short stature is due directly to genetics or indirectly due to suboptimal nutrition. In a recent series of studies, Dr Margaret Collins outlines some of the main findings regarding growth curves in children with CDCS. These articles can be assessed directly from the CDCS Support Group at the address at end of booklet.

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. One approach that may help breathing during feeding is to clear the mouth and nose of mucus with a syringe before attempting to feed. Poor muscle tone (hypotonia) 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. A poor sucking response in infancy is likely to improve as the child gains experience in sucking and also matures. 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

Feeding concerns in childhood

Children with CDCS need vitamins, minerals, protein and carbohydrate just like other children. In a recent UK study over 60% of children and adolescents with CDCS (2-18 years) always consumed the usual family diet while the remaining 40% consumed the usual family diet either frequently or occasionally. Unfortunately, only 21% were always able to cope with the normal consistency of the diet and 37% could only cope with pureed food. 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 behaviour patterns. It is therefore crucial that parents and carers 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 carer 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 behavioural aspects of the problem will aid the drawing up of a treatment programme. Encouragingly, in our recent survey of parents we asked whether their child eats a normal family diet (71% responded yes) and whether the consistency of food was normal (56% yes), mashed (30% yes) and pureed/liquidized (3% yes). This finding is strongly age-related and suggests a positive developmental progression from a reliance on pureed and mashed foods to eating textured food. 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. Importantly, we found no evidence of compromised vitamin status in children even when food was taken in a liquidized form. As long as the liquidized meals provided are nutrient-dense, there is no reason to suppose that micronutrient status will be compromised by this approach, and it may in fact be improved. 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. You are to be congratulated on achieving what appears to be a very well balanced diet to your children.

Dribbling

Most CDCS children will have problems with excessive dribbling which, in many cases, requires frequent changes of clothing throughout the day. Dribbling is due to weak muscle control and can be helped by early speech therapy, which aids swallowing. Another successful way parents have found to alleviate dribbling altogether is by surgery, an operation called Submandibular duct Translocation. In most cases, your child will not need an over night stay. They will arrive at the hospital on the day of surgery and should be home by the evening. The procedure involves relocating the salivary ducts underneath the tongue to the back of the throat so that the saliva trickles down the throat and is swallowed. The operation is fairly painless but does involve a general anaesthetic. Most parents have reported a high success rate and stated how much it has added to their child’s quality of life. In addition to this technique, other procedures are available and these should be discussed in consultation with your GP.

Constipation

Constipation, not diarrhoea, is a problem that appears to be present in over 70% of children in infancy and remains a problem for the majority of children in later childhood and adolescence. An increase of fibre in the diet by encouraging the child to take fruits, vegetables and whole grain cereals can be helpful, and many parents swear by the use of prunes and prune juice which contains a natural laxative. There are specific medical treatments for constipation but advice should be sought from your GP or the specialist most involved in the care of your child.

Other medical problems

Congenital scoliosis (curvature of the spine), gastrointestinal and cardiovascular problems can occur in some but not all children and adults with CDCS. Alongside these major health problems, there is a proneness to develop recurrent upper respiratory tract infections and an increased risk of dental problems. However, at the moment there is no research that can inform as to the trajectory of any medical problems and we do not know if there is a change in the severity of any problems with increasing age.