Medical and physical features of Cornelia de Lange Syndrome relevant to self-injury
Medical and physical features of Cornelia de Lange Syndrome relevant to self-injury
The physical characteristics of Cornelia de Lange Syndrome have been described by a number of researchers and clinicians 4, 5, 6, 7, 8, 9. The most prominent characteristics include:
- Low birth weight.
- Delayed growth.
- Distinctive facial features (prominent philtrum (this is between the nose and the upper lip), thin downturned lips, long eyelashes, confluent (joined) eyebrows)
- Excessive hair growth
- Small hands and feet with short digits.
- Severe limb abnormalities (present in 25- 30%).
Many health and medical problems are also associated with Cornelia de Lange Syndrome. Box 2.2 shows how common some of these problems are in children and adults with Cornelia de Lange Syndrome in comparison to other children and adults with intellectual disabilities of the same age and with the same degree of intellectual disability.
The graph shows the common health problems seen in Cornelia de Lange Syndrome in comparison to other individuals the same degree of intellectual disability of comparable age. Eye, ear, dental, gastro-intestinal and skin problems are significantly more commonly reported for individuals with Cornelia de Lange Syndrome.
For the purpose of understanding self-injurious behaviour in Cornelia de Lange Syndrome, this chapter will attend more closely to those physical characteristics and health or medical problems that may be associated with discomfort or pain. This is because a number of these problems are potentially relevant to self-injurious behaviour. These are described below together with an indication of why they might be associated with self-injury.
- Eye problems
- The primary eye problems associated with Cornelia de Lange Syndrome include the absence or reduction of tears, blocking of the tear duct and potential abnormalities of the eye that cause impaired vision. In many people who have intellectual disabilities discomfort, irritation or pain in the eye will lead to eye pressing, poking or rubbing. Additionally, if vision is impaired by damage to the eye but the optic tract (the nerve fibres that carry signals from the eye) is intact and the occipital lobe (this is the part of the brain that receives and interprets signals from the eye) is functioning normally, then this can lead to eye pressing or poking. The reason for this is that if no light can stimulate the nerves in the back of the eye then physical stimulation of these nerves by pressing or poking leads to bright flashes of light and light patterns. In the absence of any other stimulation this can be rewarding and cause the behaviour to occur again in the future (see Chapter 5). Another reason for pressing or poking the eye is that this can lead to the shape of the eye being temporarily changed and consequently focus is improved.
- Ear problems .
- The most commonly reported ear problem in Cornelia de Lange Syndrome is chronic otitis media (middle ear infection)
Approximately 50% of head-banging that is commonly seen in many children under the age of five, who do not have intellectual disabilities is associated with this problem 31. There is no reason to think that children with Cornelia de Lange Syndrome should respond any differently to this painful condition than children without intellectual disabilities.
- Bone and joint problems
- Although there has been limited research into bone and joint problems in Cornelia de Lange Syndrome the presence of scoliosis (curvature of the spine), difficulties with gait and restricted movement in certain joints such as the elbow have been reported. Abnormalities in the hip occur in approximately 5-10% of children and adults with the syndrome.
Some parents also indicate that their children often ‘pop’ their hips, knees and other joints out of place. However, research on this has not been carried out and at the moment these reports are anecdotal. It is not clear what sensation is gained from this behaviour but it is thought that perhaps it might help to relieve pain or discomfort in the joints.
- Gastro-intestinal disorders
- Gastro-intestinal problems are one of the most commonly reported problems in Cornelia de Lange Syndrome. Research suggests that as many as 71% of children with the syndrome have feeding difficulties that reflect these problems.
There are two main gastro-intestinal disorders that are common in children and adults who have Cornelia de Lange Syndrome. The first is gastroesophageal reflux. This is caused by the sphincter muscle at the top of the stomach not being sufficiently tight to keep the contents of the stomach from rising up into the oesophagus.
The contents of the stomach are acidic causing painful burning sensations in the chest and throat when reflux occurs. The second problem is malrotation of the intestine. This is a serious and life-threatening condition that leads to considerable discomfort and requires immediate attention.
- Sinuses
- Sinusitis has been reported to be a common problem for individuals with Cornelia de Lange Syndrome. It is caused by inflammation of the sinuses causing pain and discomfort to the individual. Sinus problems may be related to the depressed nasal bridge that is characteristic of individuals with the syndrome.
- Teeth
- There are two dental related medical problems that might be associated with self-injurious behaviour. The first is the crowding of teeth. This can lead to some discomfort as teeth erupt. The second problem is the thin layer of enamel on the teeth. This may mean that dental cavities are more likely to occur and that there is increased sensitivity to touch and temperature in the teeth. This is potentially relevant to gastroesophageal reflux as constant contact between the acidic fluid from the stomach and the already thin enamel on the teeth can hasten the development of cavities.
In addition to these two specific problems that are related to Cornelia de Lange Syndrome it should be noted that there will in any event be some physical discomfort around the time of tooth eruption just as there would for any child.
- Peripheral sensory neuropathy
- Dr. Tonie Kline has suggested that here is some evidence that children and adults who have Cornelia de Lange Syndrome might have a peripheral sensory neuropathy. This means that the peripheral nervous system, that part of the nervous system outside of the brain and spinal cord that is associated with pain and sensation amongst other things, might not be sending the right signals to the brain. Given that for many children and adults the upper limbs do not develop properly it would not be surprising if the peripheral nervous system in the arms had also not developed normally. Even if the hands and arms are well-formed it is entirely possible that a peripheral sensory neuropathy is still present.
This disorder can have two important effects that might be relevant to self-injury. First, pain may not be experienced in the ‘normal’ way. Painful stimuli may not be experienced as painful. Secondly, people may experience unusual sensations in their hands and arms. These sensations are described by some people as pins and needles (dysaesthesia) or a mild burning sensation.
on behalf of the Cornelia de Lange Syndrome Foundation, published on 20 Jun 2003
