Summaries of a few of the lectures

by Dre Cantin, F. Lussier Ph.D., and Dre Ortenberg.

Hello, everyone!

The following are summaries of a few of the lectures delivered at Sainte-Justine Hospital and the Montréal Children's Hospital during the past year. The lectures were presented by the ANFQ in view of informing you about various topics related to neurofibromatosis.

I would also like to offer you my best wishes of joy, peace and health for Christmas and the New Year.

Hélène L. Pérusse
Vice-president

ORTHOPEDICS AND NEUROFIBROMATOSIS: BEYOND FOOT CARE

Summary of the lecture delivered by Dr. Marie-Andrée Cantin, Pediatric Orthopedic Surgeon at Sainte-Justine Hospital

This lecture entitled "Orthopedics and Neurofibromatosis: Beyond Foot Care" took place at Sainte-Justine Hospital on June 8, 2000, on the occasion of the annual meeting of the ANFQ.

Dr. Cantin started the evening very nicely by giving us a broad overview of the history of medicine from its beginnings until today, from the time of Hippocrates, who seems to have been one of the first to speak of the discipline of surgery, until 1740, when a French doctor named Nicolas André was reportedly the first to have introduced the term "orthopedics".

Then, Dr. Cantin continued by explaining how a student in medicine goes on to become an orthopedic surgeon, that is, a bone, muscle and articulation specialist.

In addition to the 4 to 5 years of training to receive the title of doctor, there are 5 years of postdoctoral training, followed by 1 to 2 years of supplementary specialization.

An orthopedic surgeon usually works 50 to 60 hours a week, giving clinical consultations, performing operations, sometimes doing research or teaching, and occasionally accomplishing administrative tasks.

Throughout her lecture, Dr. Cantin used many slides and transparencies to complement her remarks.

She went on to explain that neurofibromatosis is a disorder of the cells that affects multiple systems: skin, peripheral nerves, brain, suprarenal glands and others...

Among the orthopedic symptoms, there may be bone abnormalities, such as scoliosis, tibial pseudoarthrosis and sphenoid dysplasia.

In the case of scoliosis (S-shaped curvature of the spine), it may go from being hardly noticeable to warranting surgery when the curvature exceeds 30 degrees. Treatments for scoliosis may therefore go from wearing an orthopedic corset to undergoing surgery.

Family physicians can examine their patients' back during their annual check-up and, depending on the seriousness of the case, decide to refer them to a specialist.

As for pseudoarthrosis affecting long bones (generally the tibia), treatments can range from a simple protective device (orthosis) to surgery in order to straighten the bones and, in the most severe cases, amputation. This abnormality, for reasons unknown, seems to affect mostly boys. Dr. Cantin specified that, usually, long bone problems are present at a very young age. There is very little risk that the problem will suddenly appear if it has not been detected before the age of 7 years.

Throughout her lecture, Dr. Cantin answered questions from the audience and seemed to meet the expectations of the members in attendance who greatly appreciated her enthusiasm for her profession.

THE NEUROPSYCHOLOGICAL EVALUATION OF THE CHILD AND THE TEENAGER

Summary of the lecture delivered by Dr. Francine Lussier, Neuropsychologist at Sainte-Justine Hospital

This lecture entitled "The Neuropsychological Evaluation of the Child and the Teenager with Neurofibromatosis" took place at Sainte-Justine Hospital on March 15, 2000.

Neuropsychology studies the relations between superior psychological functions (reasoning and behaviour) and brain structures.

A neuropsychological evaluation may be necessary for children at the beginning of elementary or high school to enable the medical and teaching communities to better understand how they function in order to take more effective action with them.

A neuropsychological evaluation serves to assess various elements including:

  • reasoning,
  • language (expressive and receptive),
  • memory and attention,
  • motor skills,
  • perception,
  • conduct execution and regulation,
  • school performance,
  • affective aspects, and
  • behaviour through its affective and organic signs.

Dr. Lussier specified that levels of intellectual functioning should not be an end in themselves. An evaluation requires an average of 14 to 15 hours of work, including the time to evaluate the child or teenager, then to analyze and compile the observations, and finally to hand over the evaluation to the parents.

In the case of neurofibromatosis, it is often said that visuo-spatial (non-verbal) functions seem to be more affected than verbal functions.

There are various non-verbal dysfunctions:

  • visuo-spatial and psychomotor deficiencies,
  • difficulties in mathematics and non-verbal problem solving,
  • poor social skills,
  • problems with new situations,
  • tactile perception deficiency, and
  • great verbosity.

Children with neurofibromatosis usually find their true strength in their verbal skills, although there may also be verbal disorders such as dyslexia or dysorthography.

Language deficiencies can also be of different natures:

  • decoding (letters and words),
  • comprehension, and
  • calculation and problem solving.

Dr. Lussier ended by insisting on the fact that a neuropsychological evaluation is essentially a working tool and an inventory of a child's skills.

This evaluation should help attending physicians, teachers and parents put all the necessary tools on their side to ensure the well-being of the child.

Hospitals unfortunately have long waiting lists (shorter but more expensive in private facilities), and Dr. Lussier diplomatically recommends that parents call on authorities and protest for the release of the necessary funds and even approach the ombudsman of the hospital concerned to get the help that is essential to all our children.

OVERVIEW OF NEUROFIBROMATOSIS

Summary of the lecture delivered by Dr. June Ortenberg, Pediatrician at the Neurofibromatosis Clinic of the Montréal Children's Hospital

This lecture, entitled "Overview of Neurofibromatosis", took place at the Montréal Children's Hospital on October 18, 2000. It was delivered in English, but the question period was both in English and French.

Dr. Ortenberg mentioned that she was very pleased to be able to take part in the series of lectures presented by the ANFQ, especially since the Neurofibromatosis Clinic of the Montréal Children's Hospital and the ANFQ were founded almost at the same time. She was present for the foundation of the ANFQ by Suzanne Guévremont-Cloutier in 1989.

She also indicated that she was very enthusiastic about some new very promising developments concerning neurofibromatosis thanks to the cooperation of the different research centres.

Dr. Ortenberg made a point of specifying that, although they partly share the same name, neurofibromatosis type 1 and neurofibromatosis type 2 are two separate disorders originating in two different chromosomes. She focused her presentation on neurofibromatosis type 1.

Throughout her address, she used many slides to explain the progress of the research: the discovery of the gene in 1987, the discovery of the neurofibromin protein in 1991 and the evolution of the research until today.

There is a great deal of research currently under way on the neurofibromin protein, as it has been discovered that this protein helps neutralize or "block" the formation of tumours. When there is little or none of this protein in the system, tumours can form throughout the nervous system (among other areas).

Research has also demonstrated that it is highly likely that one or more other "cooperating" genes may be at the origin, with chromosome 17, of neurofibromatosis.

Since the disorder may result from a spontaneous mutation (50% of cases) or a hereditary mutation (50% of cases), it is important, when a child is diagnosed, that the parents also be examined, especially in the areas of dermatology and ophthalmology.

While the disorder may be hereditary in some cases, Dr. Ortenberg specified that it is a myth that the disorder gets worse from one generation to the next. Prenatal tests are still not very predictive, with a margin of error of up to 30%. At least, it will be possible to learn if a child will have neurofibromatosis, but not the future level of complications.

It should be pointed out, though, that over 2/3 of people with neurofibromatosis type 1 have few major complications.

It should also be noted that a person with the disorder must present at least two of the following neurofibromatosis diagnostic criteria identified in 1984 (by the National Institute of Health, Bethesda, Maryland, USA):

  • café-au-lait spots,
  • neurofibromas,
  • Lisch nodules (present in almost 100% of adults but causing no vision problems),
  • optic gliomas,
  • orthopedic problems, and
  • learning disabilities.

Good medical follow-up care (neurology, ophthalmology, dermatology, orthopedics, etc.) remains important, and parents are always the best allies and defenders of their child.

At the end of her presentation, Dr. Ortenberg answered questions from the audience, and one question in particular retained her attention:

What should be expected after the diagnosis, especially in the case of a very young child? Parents are often unprepared, concerned and frequently feel helpless.

This wait-and-see feeling can be very difficult. The bright side is that, with certain complications, if they have not appeared at a young age, they will most likely never occur.

For example, optic gliomas, even though they are present in many children, if they have not caused any complications by the age of 7 years, they probably never will. The same holds true for certain orthopedic complications (tibial pseudoarthrosis) which, if absent in childhood, will not appear later on. Hope and research are invaluable assets.

Back