Experiences in Treating Cornelia De Lange Syndrome
Frances Trost, M.D.
Cornelia De Lange Syndrome is an unusual, but not rare phenomenon. There is controversy regarding the features and treatment of this syndrome, particularly with regard to the prosthetic and orthotic care of these children. They present unique and sometimes vexing opportunities in their care. At the Twin Cities unit of the Shriner's Hospital, we have had the unique opportunity to work with five of these children, three of whom are still active patients. In a larger sense, they demonstrate considerations that apply to all amputees.
History and Description of the Syndrome
Cornelia De Lange, who was an Amsterdam pediatrician, first described this complex in 1933. It may have been described earlier by Brachman in 1916 so that occasionally this is known as the Brachman-Cornelia De Lange Syndrome. This is a congenital disorder causing delay in physical, intellectual and language development. There is no known gene abnormality or marker to make or confirm the diagnosis and therefore it is made by the clinical features, which are a multi-faceted group of abnormalities affecting a wide variety of systems.
The severity of involvement varies widely among these children. It occurs once in about every 20,000 live births. Their life expectancy is difficult to determine but it it not nearly as gloomy as was previously felt. There are about 2,000 reported cases in the United States and others have been reported world-wide.
The following are characteristics of the syndrome:
- Small birth weight and length
- Mental retardation (5)
- long eyelashes
- developmental delays (4)
- anteverted nose
- microcephaly (3)
- long upper lip
- low set ears
- hirsutism (2)
- low hairline
- high arched or cleft palate
- thin down-turned lips
- small hands and feet
- low pitched cry
- visual defect - myopia
- seizures (1)
- astigmatism (1)
- in-curved 5th fingers
- cardiac anomalies (3)
- urogenital abnormalities (1)
- G.I. abnormalities (5)
- limb reduction defects (5)
- difficulty regulating temperature
- hearing deficits (2)
The number in parentheses indicate the numbers of our patients where that particular anomaly was documented. All of our patients demonstrated the typical facets of this syndrome but the specific features were not always documented. In our series all of the children had normal lower extremities. These numerous defects are listed to show the widespread multi-systemic involvement of the syndrome. Some of these directly affect prosthetic/ orthotic efforts.
Orthopedic anomalies associated with this syndrome are;
- short thumb close to the wrist
- syndactyly-fingers or toes
- dislocated radial head
- limb reduction defects
- usually upper extremity usually longitudinal
- tight heel cords
- late hip dislocation
- knee flexion contractures.
It was previously felt that prosthetic or orthotic fitting was fruitless, but our experiences has shown the opposite, given certain considerations which we will outline.
In our series at the Shrine, there were five patients with Cornelia De Lange Syndrome, all of these were boys and they were seen between 20 months and 6 years of age. They demonstrated varying degrees of severity of the syndrome. The most common limb defects in our series included radial heads, fixed elbow flexion contractures, absent ulna and a single digit. I will use one of the children, "Andrew", as an example of the rest. He will be our demonstration case, because we have the best documentation on him and because he was moderately severely involved, showing all of the defects that the others had. In addition to this, his parents were extremely cooperative and proactive and informed. He also lives close to our facility and this gave us easy access to him. We ran the gamut of problems trying to fit Andrew with devices that would be helpful to him and would aid in this development. Our thrust in treatment was to try to meet his needs as they occurred and these will undoubtedly change as he develops and he gets older.
Andrew's treatment, like the features of this syndrome, was multi-systemic. Like so many of the children with this disorder, Andrew had significant gastrointestinal problems, one of which was gastric reflux. Correcting this condition was far more urgent than addressing his skeletal deficiencies. Gastrointestinal problems, along with some of the cardiac anomalies and severe seizures, continue to be the most life-threatening features of this syndrome. Gastric reflux not only causes esophageal irritation and scarring, but is felt to be the cause of aspiration pneumonia. In the early days this led to the demise of these children frequently and gave the syndrome its poor prognosis.
After his more urgent needs were addressed, Andrew's skeletal deficiencies were evaluated. At another institution, where he was first seen, amputation was recommended. Luckily, this was never acted upon and in hindsight, would have been a disservice to him at this age and state of development at that time and even up to the present time. The idea for ablating the limbs was apparently to provide him with more conventional prostheses. This would have been futile considering his limited ability to function at that time. He uses the small digits that he has for pushing food into his mouth and they serve a useful purpose to him.
When Andrew was seen at Shrine, he was evaluated in the limb deficiency clinic and after a great deal of consideration and dialogue between the parents and the prosthetic team, Andrew was fitted with arm-based prostheses, incorporating a cuff suspension and a spoon device. Later, he was fit bilateral but this was not particularly successful, there being significant problems with suspension on the left side, which was shorter, as well as his inability to coordinate activities with both upper extremities at the same time. Therefore, efforts have been chiefly centered on devices for his right arm, which is apparently his dominant side. These adaptive devices went through many changes and modification to try to adapt to his needs and the problems that we had fitting him. Suspension particularly was a difficult problem and has still not been completely solved, although there have been marked improvements made in this area. At a later date, he was fit with more extended prostheses so that he could reach out in front of him and use his magic markers as well as pound on things, which he seemed to enjoy doing. Standing and sitting devices were also fabricated for him to try to get him into an upright position since his walking was markedly delayed. Finally, at about the age of 41/2, Andrew began walking independently. He did not go through a crawling stage and some devices that were meant to aid him in crawling went unused. He essentially went from lying on the floor and scooting around by rolling or shoving himself along on his side to standing and walking.
About one year ago, an attempt was made to fit Andrew with a voluntary opening prosthesis. At first this was not cabled and then the cable was later attached. Andrew, himself, could not operate this device and ultimately it was abandoned. More recently, Andrew has been fit with a child-sized myoelectric prosthesis. Inadvertent triggering of the controls led to opening and dropping things and therefore the controls were switched so that his mother or one of the other caregivers, can operate the device. This seems to have been more successful and it is hoped that, as he develops, he will begin to get the connection and be able to operate the device himself. With the myoelectric prostheses, supen-sion and weight is something of a problem, but it has been one that we can circumvent to some extent. With the use from the limb bank, the cost of these efforts has been kept manageable.
So what progress has Andrew made and and have the adaptive devices and prostheses that we have made for him been of any value to him?
At this time, Andrew can ambulate independently. He can feed himself with the adaptive devices. He is able to pound on things and do some line drawings with magic markers. With the myoelectric prosthesis, he has been able to carry some objects and while these achievements seem to be relatively negligible in the normal course of things, for Andrew they represent significant milestones in his development.
What have we learned from our treatment of Andrew and the other children with Cornelia De Lange Syndrome?
We have learned that treatment of these children has to be prioritized and that serious or life threatening manifestations of the syndrome have to be addressed first. We have had to try to define the needs of these children since they are not the needs of normal children and they vary from individual to individual. One has to gauge the amount of parental co-operation that you can expect and be guided by the amount of help that they can give you.
Other features of the syndrome have to be considered in fitting these children also. The retardation and slow development play a part in the assessment of them and considering the multi-systemic involvement, skeletal defects are only one consideration. It is of paramount importance that a flexible, open-minded approach be used. Defining their needs and addressing them is the key to success. In addition to this, dynamic re-evaluation has to be pursued constantly and an effort made to keep up with their development, which continues to change. One must also have a willingness to modify devices and in fact, trial and error play a great part in achieving a successful fitting in these children. Goals must be kept realistic.
The same things that apply to children with Cornelia De Lange Syndrome apply to all amputees, especially children. The lessons that we learn in treating children with Cornelia De Lange Syndrome are graphic because it is such a dramatic syndrome, but these precepts can just as easily be applied to all amputees, even when they are more subtle. No one system or component is right for everyone and even in the individual, these will change from time to time. Growth and development is not just a change in size but also in needs and these have to be accurately assessed to optimize treatment.
Given our experience with these children, it would appear that adaptive devices produced better results than standard replacement prostheses. Many of the components were customized and were appropriate for only one or, at the most, a few activities. However, the children's needs were limited and simple. The final configuration was only achieved by persistence and trial and error. We were fortunate to have the facilities and staff to be able to persevere and the optimal result could be obtained. As we progressed we had fewer false starts due to more accurate assessments and better defined goals. From a material stand point these devices were not expensive and the primary investment was the interest, persistence and creativity of the staff. In the illustrated case the mother's input was also invaluable. We feel that our experience can help others to address the problems we encountered in a more expeditious manner. It would be interesting and helpful to share the experiences of other clinics dealing with this problem. The bedrock of success lies in the accurate assessment and capabilities of the child, realistic goal setting based on that assessment and the education and co-operation of all the involved care givers. If this is more complex in Cornelia De Lange Syndrome it is also true in the treatment of all limb deficiencies.
In the final analysis, was all the time and effort for such a low yield outcome justified? In this era of private medicine - probably not. The efforts would probably not have been reimbursed. We accomplished no miracles. But we do feel we helped enhance these children's admittedly retarded development. We met their needs, limited though they were, and after all, is that not our purpose? Not to give false hope but to help the limb deficient person maximize his or her capabilities whatever they are. In addition we aided the morale of these families who felt that someone cared and was trying to help and ultimately that has to reflect favorably. We do not deny care or attention to any Other children in the clinic with these efforts and have learned much ourselves, particularly regarding assessment and fabrication. We believe that there is a place in our medical community for efforts such as these. What is the alternative? To feel that nothing substantial can be accomplished and abandon these individuals and their families? We do not feel that is acceptable.
Thanks for cooperation should go to : Cornelia De Lange Syndrome Foundation, Collinsville, CT. 1-800-223-8355
Please direct correspondence to:
Frances Trost, M.D.
38 Ian Wood Drive
Dolphin Heads, MacKay
Queensland, 4740, Austratilia
Gorlin,RJ. Synd. Of Head and Neck
Beck: Human Genetics 1981,59:172
Harley, P.P.& Jackson, Keirnit: American Journal of Medical Genetics 20:453:1985