The Cystinosis Foundation and the French Association for Information and Research on Genetic Renal diseases (airg) organised a conference in Paris from 28 to 30





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SOCIAL PROFESSIONAL FUTURE OF PEOPLE WITH CYSTINOSIS

G.Guest, M.J. Tête


Paediatric nephrologists department, Necker hospital for sick children, Paris

We report on a series of 38 patients with cystinosis followed by the Necker hospital for sick children.
Twenty-three children aged from 4 to 19 years were taken care of within a specialist paediatric nephrology environment and followed in our department. All received standard infant, primary and secondary schooling. None received specialised schooling. Eight had a strictly normal academic level, adjusted to their age. Fifteen were 1-2 years behind with some learning difficulties.

Fifteen patients, 3 girls, 12 boys born after 1975 are now over 20 years of age. Three have not obtained a professional training; they have continued education up until college without obtaining a diploma. One young man works part-time thanks to temporary work; the 2 others do not have a professional activity.

Two have obtained a higher education diploma, CAP or BEP: one is continuing studies, the other works full time having created his own car sales company.

Ten have obtained baccalaureate (end of secondary school diploma) on average, at 20 years of age:


One works during the holiday season in a holiday club; six continue higher education (computing, medicine, engineer, communications, secretarial, BTS); three have obtained a higher technical diploma (BAC + 2) and have full time jobs.

Three of these patients live away from home. Three live with their partner, but 2 still live with their parents and do not have financial autonomy.
This series shows a very respectable educational and professional success. For some schooling is longer due to repeated absences related to a chronic disease.

DEVENIR SOCIO-PROFESSIONNEL DES PATIENTS ATTEINTS DE CYSTINOSE

G.Guest, M.J. Tête


Service de Néphrologie pédiatrique, Hôpital Necker-Enfants-Malades, Paris, France

Nous rapportons ici une série de 38 patients atteints de cystinose suivis à l’Hôpital des Enfants –Malades.

Vingt-trois enfants âgés de 4 à 19 ans ayant eu une prise en charge précoce en milieu néphrologique pédiatrique spécialisé sont suivis dans notre service. Tous sont scolarisés en établissement maternel, primaire ou secondaire standard. Aucun ne suit une scolarité en milieu spécialisé. Huit ont un niveau scolaire strictement normal, adapté à l’âge. Quinze ont un à deux ans de retard avec quelques difficultés scolaires.

Quinze patients, 3 filles, 12 garçons nés après 1975 sont maintenant âgés de plus de 20 ans. Trois n’ont obtenu aucune formation professionnelle, ils ont poursuivi leur scolarité jusqu’au collège sans obtenir de diplôme. Un jeune homme travaille de façon intermittente grâce à l’intérim, les deux autres n’ont aucune activité professionnelle.


Deux ont obtenu un diplôme d’enseignement professionnel, CAP ou BEP : l’un poursuit ses études, l’autre travaille à temps complet ayant créé sa propre entreprise de vente d’automobiles.

Dix ont obtenu leur baccalauréat (diplôme de fin d’études secondaires) à l’âge de 20 ans en moyenne :

Un travaille comme saisonnier en club de vacances ; six poursuivent des études supérieures (informatique, médecine, école d’ingénieur, communication, secrétariat, BTS) ;

Trois ont obtenu un diplôme de technicien supérieur (BAC + 2) et ont un emploi à temps complet.

Trois de ces patients vivent indépendamment de leur famille. Trois vivent en couple, mais deux d’entre eux habitent toujours dans le foyer parental n’ayant pas une autonomie financière totale.
Cette série montre une réussite scolaire et professionnelle tout à fait honorable, Ces jeunes patients ont poursuivi un cursus scolaire, universitaire et professionnel adapté. Leur scolarité est pour certains plus prolongée, la maladie chronique ayant entraîné des absences répétées.


VISUAL AND VERBAL LEARNING IN CYSTINOSIS

Doris Trauner, M.D.

Professor, Department of Neurosciences, University of California, San Diego School of Medicine

La Jolla, CA USA 92093-0935

We have previously identified a specific learning difficulty in some individuals with cystinosis. This difficulty involves visual spatial skills. We have recently completed a study looking at visual and verbal learning abilities in children and adults with cystinosis, using a well-known verbal learning test, and a visual learning test developed in our laboratory.
We tested 37 individuals with cystinosis and 37 matched controls on verbal and visual learning tests. We found significant differences between the 2 groups. The control participants performed equally well on both tasks, while the individuals with cystinosis performed well on the verbal, but much less well on the visual learning task. In a follow-up study, we increased the amount of time that the individuals with cystinosis were exposed to the visual learning test, and found that their performance improved to control levels. These results suggest a potential intervention that may help those individuals with cystinosis who have visual learning difficulties.

L’APPRENTISSAGE VISUEL ET VERBAL DANS LA CYSTINOSE

Doris Trauner, M.D.

Professeur, Service de Neurosciences, Université de Californie, Ecole de Médecine de San Diego

La Jolla, CA USA 92093-0935

Nous avions déjà identifié une difficulté spécifique d’apprentissage chez quelques patients atteints de cystinose. Cette difficulté implique les aptitudes à la vision dans l'espace. Nous avons récemment terminé une étude sur les capacités d’apprentissage visuel et verbal chez les enfants et adultes atteints de cystinose, en utilisant un test d’apprentissage verbal bien connu et un test d’apprentissage visuel que nous avons développé dans notre laboratoire.
Nous avons soumis 37 patients atteints de cystinose et 37 témoins appariés à ces tests d’apprentissage visuel et verbal. Nous avons trouvé des différences significatives entre les deux groupes. Les participants témoins ont eu des bons résultats similaires dans les deux activités, tandis que les sujets atteints de cystinose ont mieux réussi le test d’apprentissage verbal que le test visuel. Dans une étude de suivi, nous avons augmenté la durée du test d’apprentissage visuel et nous avons découvert que leur performance s’était améliorée jusqu’à atteindre le niveau des témoins. Ces résultats suggèrent qu’une intervention potentielle pourrait aider les patients atteints de cystinose qui ont des difficultés d’apprentissage visuel.

VISUAL PROCESSING IN CYSTINOSIS: UPDATE WITH TESTING FROM ITALY

Angela Ballantyne, Ph.D.

Department of Neurosciences, University of California, San Diego

La Jolla, CA 92093-0935

Dr. Ballantyne will discuss aspects of visual processing that may be difficult for children with cystinosis, and the implications for school and everyday functioning. Her talk is based on a recent study of 141 children from the USA (33 with cystinosis and 108 controls), ages 5 through 14 years. The findings indicated that visual spatial functioning was impaired in the cystinosis group, whereas visual perceptual functioning was intact. Examples of these skills will be provided, and Dr. Ballantyne will discuss potential strategies for remediation. In addition, the findings from a small sample of children tested in Italy will be presented.

LE DEVELOPPEMENT VISUEL DANS LA CYSTINOSE : RESULTATS DES TESTS EN ITALIE

Angela Ballantyne, Ph.D.

Service de Neurosciences, Université de Californie, San Diego

La Jolla, CA 92093-0935

Le docteur Ballantyne abordera les aspects du développement visuel qui peuvent s’avérer difficiles pour les enfants atteints de cystinose, ainsi que leurs implications sur la scolarité et la vie quotidienne. Sa présentation est basée sur l'étude récente de 141 enfants aux Etats-Unis (dont 33 atteints de cystinose et 108 témoins), âgés de 5 à 14 ans. Les résultats de l’étude ont montré que les capacités de vision dans l'espace était perturbées dans le groupe cystinose alors que la perception visuelle était intacte. Des exemples de ces aptitudes seront fournis et le docteur Ballantyne discutera des stratégies potentielles pour y remédier. De plus, les résultats issus d’un petit échantillon d’enfants testés en Italie seront présentés.

ORAL MOTOR FUNCTION AND FEEDING DIFFICULTIES IN CHILDREN WITH CYSTINOSIS

Doris A. Trauner M.D.

Professor, Department of Neurosciences, University of California, San Diego School of Medicine

La Jolla, CA USA 92093-0935

Our earlier studies found an increased incidence of neurological dysfunction in children with cystinosis. This included evidence of gross and fine motor delays, and alterations in muscle tone. Parents of children with cystinosis often reported that their children had difficulty with feeding early in life. To evaluate this, we asked parents to complete questionnaires on feeding history and oral motor function in their children with cystinosis. We also performed oral motor examinations and detailed neurological examinations on children with cystinosis.
The majority of children with cystinosis had a history of feeding difficulties. About 1/3 required tube feedings at some point. Abnormalities on oral motor examination included low muscle tone in the oral muscles, abnormal gag reflex, and throaty or congested voice. Abnormalities found on the general neurological exam included low muscle tone, muscle weakness, gross and fine motor dysfunction, and ataxia. The results indicate that feeding difficulties and oral motor dysfunction are common in children with cystinosis and appear to correlate with the amount of overall neurological dysfunction. We do not know at this point whether early oral motor dysfunction has any implications for later myopathy, such as has been observed in some adults with cystinosis.


MOTRICITE ORALE ET DIFFICULTES D’ALIMENTATION CHEZ LES ENFANTS ATTEINTS DE CYSTINOSE

Doris A. Trauner M.D.

Professeur, Service de Neurosciences, Université de Californie, Ecole de Médecine de San Diego

La Jolla, CA Etats-Unis 92093-0935

Nos études antérieures ont mis en évidence une plus grande incidence d’atteintes neurologiques chez les enfants atteints de cystinose, incluant des retards de la motricité grossière et fine, ainsi que des altérations du tonus musculaire. Les parents des enfants atteints de cystinose ont souvent rapporté que leurs enfants avaient connu très tôt des difficultés d’alimentation. Pour évaluer ce phénomène, nous avons demandé aux parents de remplir des questionnaires sur les antécédents alimentaires et la motricité orale de leurs enfants. Nous avons également réalisé des examens de la motricité orale ainsi que des examens neurologiques détaillés chez des enfants atteints de cystinose.
La majorité des enfants atteints de cystinose présentaient dans leur histoire des difficultés d'alimentation. Dans environ 1/3 des cas, une alimentation à la sonde avait été nécessaire à un certain moment. Les anomalies relevées dans les examens de la motricité orale comprenaient une diminution du tonus des muscles buccaux, un réflexe nauséeux anormal, et une voix déformée. Les anomalies décelées dans l’examen neurologique général comprenaient une diminution du tonus musculaire, une faiblesse musculaire, un dysfonctionnement de la motricité grossière et fine, et une ataxie. Ces résultats indiquent que les difficultés d'alimentation et les dysfonctionnements de la motricité orale sont communs chez les enfants atteints de cystinose et qu’ils semblent corrélés à l’importance de l’atteinte neurologique globale. On ne sait pas à ce stade si le dysfonctionnement précoce de la motricité orale a des implications sur la myopathie ultérieure, telle qu’elle a été observée chez certains adultes atteints de cystinose.

DIABETES MELLITUS IN INFANTILE NEPHROPATHIC CYSTINOSIS

Robert Jean-Jacques, Tête Marie-Joseph, Guest Geneviève, Gagnadoux Marie-France, Niaudet Patrick, Broyer Michel

Fédération de Pédiatrie Médicale, Hôpital Necker - Enfants Malades, Paris, France

Diabetes mellitus is a frequent long-term complication of infantile nephropatic cystinosis. Forty-four cystinotic patients were followed for a mean period of 11 years after kidney transplantation, which they underwent at a mean age of 11.3 + 2.5 years. The occurrence of diabetes mellitus or impaired glucose tolerance was clearly linked to the age of the patient and the metabolic disturbances became very common when the follow-up was long. All but 2 patients suffered from impaired glucose tolerance and over half the patients had diabetic criteria at the oral glucose tolerance test (OGTT), at 20 years of age or 10 years after transplantation. A quarter of them were given insulin at this age, but 50 % required insulin at the end of follow-up, a few years later. Thus, diabetes mellitus was much more frequent in cystinotic patients than in other transplanted patients, slightly above 1% in 740 patients transplanted in our hospital during the same period as the cystinotic patients.

The long-term follow-up of these patients confirms that corticosteroid therapy can be an aggravating factor, causing insulin-dependency when used at high doses immediately after transplantation or during rejection episodes. However, the later occurrence of permanent insulin-dependency is not linked to the early post-transplantation insulin requirement. The delay before relapse of insulin-dependency was generally long, 8 to 11 years. The patients who did not require insulin immediately after transplantation became insulin-dependent 4 to 15 years later, between 14 and 26 years of age. Thus, the cystinotic process alters the glucose metabolic status very slowly, while doses of corticosteroids decrease regularly. Cysteamine treatment might reduce the possible impact of corticosteroid treatment on the progression toward diabetes mellitus, by delaying the age of renal transplantation, but it could also have a direct effect on the cystine accumulation in the ß-cells. Data concerning patients who were treated early and permanently with cysteamine and were not transplanted do not show any difference with the group of transplanted cystinotic patients, at similar ages. However, they are still too young to suffer from diabetes mellitus or to have frequent impaired glucose tolerance. The prospective follow-up of these patients is in progress.

Cystine deposits have been found in the pancreas and are responsible for a marked endocrine hyperplasia, particularly of the ß-cells, while the exocrine pancreas remains normal (4). Cystine accumulation could interfere with insulin secretion and cause the slow deterioration of glucose metabolism. Plasma insulin levels at 30 min of the OGTT have been negatively correlated with plasma glucose at later times of the OGTT, which strongly suggests that hyperglycemia results from a deficient early insulin response to glucose. Thus, the lack of insulin release appears to be the main defect leading to the development of diabetes mellitus in cystinotic patients. In contrast, our results show no evidence of insulin resistance. This suggests that the increase in BMI following transplantation or the possible deterioration in kidney function was not so marked as to cause a major insulin resistance, which could have worsened the glucose metabolic status of the patients.

In conclusion, diabetes mellitus is a frequent long-term complication in transplanted patients with nephropathic cystinosis. High doses of corticosteroids given after transplantation or during rejection episodes aggravate the glucose metabolic status and are responsible for insulin dependency that is often transitory. However, the development of impaired glucose tolerance and diabetes mellitus depends mainly on the cystinotic process, which gradually alters ß-cell function over the years, so that more than half the patients become insulin-dependent by the age of 25 years.

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