« Full and Useful Lives ¼ : La déficience intellectuelle au sein du discours médical canadien (1956-1972).

Articles published between 1956 and 1972 in the Canadian Medical Association Journal (CMAJ) and the Canadian Psychiatric Association Journal (CPAJ) reflect the Canadian medical community's certain interest in mental retardation during this period. Much of the scientific production in this area at that time seems to have been aimed at alleviating the economic burden of mental retardation by making the mentally retarded person autonomous and capable of performing an economic function. This article intends to highlight this ambition to discipline the mentally retarded through the study of the CMAJ and CPAJ articles. It begins with a discussion of the diagnosis of mental retardation, followed by a discussion of the treatments, care and services to be offered. The last part of this text deals with the discourse conveyed in the two journals regarding the mentally retarded that seems unable to live outside of the institution and perform an economic function.

Les articles publiés entre 1956 et 1972 au sein du Canadian Medical Association Journal (CMAJ) et du Canadian Psychiatric Association Journal (CPAJ) témoignent d'un certain intérêt de la communauté médicale canadienne pour le retard mental. Celle-ci se préoccupe tout particulièrement du poids économique que représente ­ d'après elle ­ le « retardé mental ¼ et de la capacité de ce dernier à atteindre une autonomie suffisante pour être productif. Dans cet article, nous mettons en lumière l'ambition de disciplinarisation du retardé mental qui transparaît du corpus analysé. Nous analysons d'abord les propos tenus sur le diagnostic de retard mental, puis ceux portant sur les traitements, les soins et les services jugés pertinents. Enfin, nous examinons le discours véhiculé dans les deux revues sur les échecs de l'entreprise médicale d'autonomisation et de majoration économique du retardé mental.

[Harlequin phenomenon associated with neurological abnormalities: A case report]. / Phénomène d'Arlequin associé à des anomalies neurologiques : un cas.

BACKGROUND: Harlequin phenomenon consists of facial flush and erythrosis with unilateral sweating and pallor, associated with contralateral anhidrosis. We present the case of a child in whom the syndrome was associated with Horner's syndrome, epilepsy, mental and psychomotor retardation. PATIENTS AND METHODS: A 9-year-old boy presented with right unilateral hemifacial erythema on effort, with normal colouring and Horner's syndrome on the left side of the face. His medical history revealed generalized myoclonic epilepsy, psychomotor delay and mental retardation. No underlying anomalies were identified. Harlequin phenomenon was diagnosed. DISCUSSION: Despite its stereotypical clinical features, Harlequin phenomenon is a poorly known disease. However, clinicians must be aware of it in order to determine the diagnosis and investigate for causes and any associated abnormalities. The underlying mechanism is an autonomic neuropathy affecting the sympathetic vasodilator neurons. To our knowledge, there have been no previous reports of Harlequin phenomenon in association with Horner syndrome, psychomotor delay and mental retardation.

[Schooling of patients exhibiting Autism Spectrum Disorders without mental retardation]. / La scolarisation des patients atteints par des troubles du spectre autistique sans retard mental.

INTRODUCTION: Autism Spectrum Disorders belong to Pervasive Development Disorders. Although access to education is recommended by the French National High Authority for Health (HAS), the practice remains limited and the reasons for the low education rate of these children have still not been sufficiently explored in the literature. OBJECTIVE: The main objective of this study was to analyze the links between Autism Spectrum Disorder without mental retardation, psychiatric comorbidity and education. The secondary objective was to analyze the cognitive and contextual factors that could limit educational inclusion. METHOD: Eighty-three autistic patients (3-18years old; 73 males and 10 females) with childhood autism, atypical autism or Asperger's syndrome (criteria from the International Classification of Diseases-10) without mental retardation and in education were assessed at the Alpine Centre for Early Diagnosis of Autism. The sample included 45 subjects with childhood autism, 12 subjects with atypical autism and 26 subjects with Asperger's syndrome. The diagnosis was based on the Autism Diagnostic Interview Revised (ADI-R), in accordance with the recommendations of the HAS, the Autism Diagnostic Observation Schedule (ADOS) and the Wechsler Intelligence Scale for Children, 4th edition (WISC-IV). RESULTS: Our results showed that childhood autism and atypical autism were mainly found in nursery and primary school, whereas Asperger's syndrome was mainly found in secondary school (Chi(2)=18.23; df=6; P<.006). Individuals with childhood autism and atypical autism were more likely to receive the support of a special educational assistant (Chi(2)=15.61; df=2; P<.000) and underwent a higher number of consultations and treatment episodes than those with Asperger's syndrome (Chi(2)=27.83; df=14; P<.015). The cognitive profiles obtained with the WISC-IV also differed: the Verbal Comprehension Index (VCI) and Working Memory Index (WMI) were higher for Asperger's syndrome than for childhood autism and atypical autism (respectively, F=23.11, P<.000; df=2; partial η(2)=.576 and F=8.06, P<.001; df=2; partial η(2)=.357). Linear regression showed that the VCI and Processing Speed Index (PSI) were inversely correlated to the number of hours spent with a special educational assistant: the lower these indexes, the greater the amount of time spent with a special educational assistant. No link was found between psychiatric comorbidity, type of psychological and psychiatric treatment, and education. DISCUSSION: The use of special educational assistants seems to be linked to the diagnosis of Autism Spectrum Disorders and neuropsychological functioning, as assessed by WISC-IV, along a continuum that ranges from childhood autism (more needs and deficits) to atypical autism to Asperger's syndrome. The Verbal Comprehension Index (VCI) and the Processing Speed Index (PSI) could be used to evaluate the number of hours of support needed by children and to better target the deficits and specific needs of children without mental retardation who are in education. A study on a larger scale could help to more closely address the question of the cognitive abilities of children with Autism Spectrum Disorder without mental retardation, so as to better help them in their education.

GLUT1 deficiency syndrome: an update.

INTRODUCTION: Glucose transporter type 1 deficiency syndrome is caused by heterozygous, mostly de novo, mutations in the SLC2A1 gene encoding the glucose transporter GLUT1. Mutations in this gene limit brain glucose availability and lead to cerebral energy deficiency. STATE OF THE ART: The phenotype is characterized by the variable association of mental retardation, acquired microcephaly, complex motor disorders, and paroxysmal manifestations including seizures and non-epileptic paroxysmal episodes. Clinical severity varies from mild motor dysfunction to severe neurological disability. In patients with mild phenotypes, paroxysmal manifestations may be the sole manifestations of the disease. In particular, the diagnosis should be considered in patients with paroxysmal exercise-induced dyskinesia or with early-onset generalized epilepsy. Low CSF level of glucose, relative to blood level, is the best biochemical clue to the diagnosis although not constantly found. Molecular analysis of the SLC2A1 gene confirms the diagnosis. Ketogenic diet is the cornerstone of the treatment and implicates a close monitoring by a multidisciplinary team including trained dieticians. Non-specific drugs may be used as add-on symptomatic treatments but their effects are often disappointing. CONCLUSION: Glucose transporter type 1 deficiency syndrome is likely under diagnosed due to its complex and pleiotropic phenotype. Proper identification of the affected patients is important for clinical practice since the disease is treatable.