Deciphering the natural history of SCA7 in children.

BACKGROUND AND PURPOSE: Childhood-onset autosomal dominant cerebellar ataxia type 7 (SCA7) is a severe disease which leads to premature loss of ambulation and death. Early diagnosis of SCA7 is of major importance for genetic counselling and still relies on specific genetic testing, driven by clinical expertise. However, the precise phenotype and natural history of paediatric SCA7 has not yet been fully described. Our aims were to describe the natural history of SCA7 in a large multicentric series of children of all ages, and to find correlates to variables defining this natural history. METHODS: We collected and analysed clinical data from 28 children with proven SCA7. All had clinical manifestations of SCA7 and either a definite number of CAG repeats in ATXN7 or a long expansion > 100 CAG. RESULTS: We identified four clinical presentation patterns related to age at onset. Children of all age groups had cerebellar atrophy and retinal dystrophy. Our data, combined with those in the literature, suggest that definite ranges of CAG repeats determine paediatric SCA7 subtypes. The number of CAG repeats inversely correlated to all variables of the natural history. Age at gait ataxia onset correlated accurately to age at loss of walking ability and to age at death. CONCLUSION: SCA7 in children has four presentation patterns that are roughly correlated to the number of CAG repeats. Our depiction of the natural history of SCA7 in children may help in monitoring the effect of future therapeutic trials.

[Antenatal betamethasone during pregnancy with severe diabetes: is better worse than good?]. / Maturation par bêtaméthasone au cours d'une grossesse de femme présentant un diabète compliqué: le mieux est-il l'ennemi du bien?

Diabetic pregnancy is a precarious situation, both for mother and fetus, because it increases the risk of prematurity and respiratory distress. We report 3 cases of severe acute complications following antenatal betamethasone treatment in mothers presenting with severe diabetes. Corticosteroids are strongly recommended to prevent prematurity complications in newborns. We highlight the high risk profile of theses pregnancies, the effect of this treatment on the mother and the child, and question the real benefit of corticotherapy for these fragile newborns. The metabolic and blood pressure balance is dangerously disturbed in such pregnancies by this treatment. This brings the question of how justified are corticosteroids in such cases?

[Specific remedial therapy in a specialist unit: evaluation of 31 children with severe, specific language or reading disorders over one academic year]. / Evaluation ouverte de l'efficacité de la prise en charge en milieu spécialisé de 31 enfants avec un trouble spécifique sévère du langage oral/écrit.

INTRODUCTION: Up to 3 percent of the children in France present severe and specific language and/or reading disorders, despite regular remedial therapies. Few studies have measured the effectiveness of treatment administered in a specialist unit. PATIENTS AND METHOD: The aims of this study, focusing on children diagnosed as dysphasic and/or dyslexic, were: During the academic year 2001-2002, 31 children (18 dyslexic and 13 dysphasic) were attending school in our unit. The teaching program and intensive speech therapy (3 hours/week) were tailored for each child according to his/her specific disorders. Reading, spelling and numeracy developmental skills of each child were evaluated by appropriate tools at the beginning and at the end of the year. Impairment was defined by measuring the gap between the observed and the expected skills, according to each child's age. Using a self-control method, progress achieved by each child throughout the year was calculated with each tool, in each subject, by subtracting the impairments disclosed at the beginning from those disclosed at the end of the year. Progression was classified within three groups according to the progress normally expected over an academic year (i.e. nine months) from children with no disabilities attending school regularly; a progression fewer than three months was considered as no progression. Uni- and multivariate analyses including age (< or= or />9), type of pathology (dysphasia/dyslexia), and intellectual quotient (IQ) as covariates was carried out to search for independent prognosticators. RESULTS: The entire group demonstrated during the year significant progress for reading (p = 0.0001), spelling (p = 0.0001) and numeracy (p = 0.0001). Nineteen children (61 percent) showed more progress in reading than normally expected over nine months. Out of the remaining 12 children, 10 demonstrated more progress in spelling and/or numeracy than normally expected over nine months. All three reading evaluation tools disclosed a progression although one was less efficient (p = 0.05). Multivariate analysis disclosed age< or=9 and dysphasia as independent progress prognosticators. CONCLUSION: Placement in a specialist unit allows children suffering from severe dyslexia and dysphasia to lessen the gap in reading, spelling and numeracy. The two prognosticators disclosed highlight the importance of early diagnosis (i.e. before nine years old) and treatment of specific language and/or reading disorders.