Cornelia de Lange syndrome profoundly affects mental and physical development, but as understanding of the rare genetic condition increases, affected children have better opportunities to learn. Brenda Jennings reports
Sammy has her hair cropped close to her head and wears jogging suits or jeans most of the time. She looks for all the world like a four-year-old boy, and her name means that she is regularly mistaken for one. Samantha Chambers is in fact eight years old and she attends Beatlie special school in Livingston. She has been diagnosed with Cornelia de Lange syndrome, about which relatively little is known.
The syndrome was only identified about 70 years ago by a Dutch paediatrician, Dr Cornelia de Lange. She published a paper in 1933 describing two children, who were unrelated but had such similar distinctive facial features that they were mistaken for the same child. The syndrome is also sometimes called Brachman-de Lange syndrome, giving credit to the German doctor W Brachman, who described a similar child in 1916.
Sammy possesses three out of four of the main features of CdLS. She is very small for her age, is a slow learner and has the distinctive facial features which make all Cornelia de Lange children look like brothers and sisters. These are thin, usually dark, eyebrows which frequently meet midline (synophyrs), long eyelashes, a short, upturned nose and thin down-turned lips.
The fourth feature - which is apparent in the other two children with the syndrome at Beatlie school - is limb deformities, usually an absence of forearms. However, Sammy's limbs are intact and perfectly formed.
It is difficult to determine the incidence in West Lothian of children born with CdLS, but it is thought to be about one in 25,000 live births. This means that one child might be expected to be born with CdLS in West Lothian every five to 15 years. In the whole of the UK there are about 38 births a year. At present CdLS cannot be detected before birth.
CdLS babies usually weigh under five pounds at birth and can encounter many problems. Often they need to be placed in intensive care units because of their low weight and poor colour, and sometimes they have breathing difficulties that require oxygen or ventilation.
Congenital heart disease can cause problems with gaining weight, and there may be a variety of difficulties connected with feeding, such as malabsorption of food and inability to suck because of a cleft palate or reflux, which causes the baby to be sick after a feed.
Many CdLS children will never develop speech, even with the aid of therapy, of which not nearly enough is available. Much depends on whether they have a mild form of CdLS or the classical form, as Sammy does, which is much more severe. Some children will only acquire very limited speech, even when given the best possible therapy. However, therapy programmes incorporating music as part of the learning process have been found to produce the best results.
Many children learn alternative forms of communication, such as "sign-along", where actions are used for everyday words and activities, and a communication board which uses symbols and pictures to depict activities and objects.
Sammy has no speech and is learning to use both of these forms of communication, as well as having her own specific sounds and voice control which can help her carers to determine her moods and needs. She will often sit and moan or giggle softly to herself when content, and there is no mistaking the angry shouts when she is displeased or reluctant to co-operate.
An affinity with music is present in most CdLS children, as is an innate sense of rhythm. They seem to have an ability to identify with, respond to and participate in musica activities in an unusually positive way.
Sammy recently had 10 weeks of music therapy, which produced encouraging results. She particularly likes beating a rhythm or tapping with any long, thin object she can grasp. When presented with a selection of toys or objects, she will inevitably choose the best one with which to beat a rhythm.
As is characteristic of CdLS, Sammy will instinctively beat the stick against her head if allowed. This causes her no pain; she just enjoys the direct contact and the ensuing vibrations.
Although she has difficulty with many less challenging activities, Sammy will use a beater to follow the keys of a xylophone up and down, in order, without omitting any. This is a remarkable achievement for someone of her restricted understanding and control.
CdLS children operate at a different emotional level from other children, and it takes many hours of patience and intensive interaction (quality one-to-one time) to form any kind of recognisable bond. Sammy will interact with her carers at a certain level but rarely with any of the other three children in her class.
Eye contact can be difficult to maintain with CdLS individuals and Sammy exercises peripheral vision much of the time, so although she is looking at a person or object, she can appear to be looking elsewhere. This, again, takes time to recognise and respond to correctly.
Although Sammy has a short attention span and immense learning difficulties, she can learn and does make slow, but significant, progress. What would be a small step to us can be an immense achievement to her and she has improved in many significant areas over the past year when I worked with her.
Among Sammy's most recent successes are learning to carry her coat from her peg outside the classroom to her carer and sitting on her chair without needing to be restrained, during group and individual activities. Sammy will now sign "Me" and "Yes" in a variety of situations and will operate switches much more readily for rewards, such as computer picture, music, a fan or a flashing light. She has also achieved a small degree of toilet training, although she remains in nappies at all times.
Unlike many CdLS children who, due to the lack of limbs, cannot feed themselves, Sammy has made progress lifting a filled spoon to her mouth and lifting up a one-handled cup, with assistance, and taking a drink. These are both hit-and-miss activities and present her with a great degree of difficulty.
The life expectancy of CdLS individuals is not known, as previously many children died in infancy of serious medical problems because their needs were not anticipated. This is no longer the case and it is expected that most will live into adulthood.
Sammy is a lovable and enchanting child locked in the strange and esoteric world of CdLS. The rare CdLS gene is almost never passed on to the next generation because affected individuals rarely have children of their own. However, there have been rare instances where mildly affected people have produced children with the syndrome. Research to identify the gene that causes the syndrome is being carried out in the department of human genetics at Newcastle University.
There are also many other research projects being carried out in Britain and North America, looking at various aspects of the syndrome, such as behaviour, speech, language development and hearing. Medical literature and information, distributed to families through the CdLS Foundation, will contain the findings of these projects.
Further information about CdLS can be obtained by e-mailing Alan and Jane Peaford, CdLS Foundation UK at email@example.com, or by visiting the foundation's website at www.cdls.co.uk www.cdlsoutreach.org