Autisme, psychose précoce, troubles envahissants du développement

International audienceDans la nouvelle version de la classification française des troubles mentaux de l'enfant et de l'adolescent (CFTMEA-R2010), la notion de psychose précoce a été conservée dans le cadre de la catégorie "Troubles envahissants du développement (TED)", définis par les classifications internationales (DSM-IV et CIM-10). Au sein des TED, les catégories diagnostiques "Psychose précoce déficitaire" ("retard mental avec troubles autistiques ou psychotiques") et "Dysharmonie Multiple et Complexe du Développement (MCDD) -Dysharmonie psychotique", restent individualisées. Un effort particulier a été fait pour faciliter les correspondances entre ces catégories diagnostiques de la CFTMEA-R2010 et de la CIM-10, en vue du relevé informatisé d'activité (RIM-Psy) et des travaux de recherche internationaux

Ivermectin safety in infants and children under 15 kg treated for scabies: A multicentric Observational study

BACKGROUND: Scabies is a frequent condition in infants and children. Only topical treatments have been approved in infants but some of them are poorly tolerated. Oral ivermectin is approved for the treatment of scabies in several countries but its use in infants and children weighing < 15 kg is off-label. OBJECTIVES: To assess the safety of ivermectin in infants and young children and to collect data on ivermectin efficacy in these age groups. METHODS: This study was performed in the Dermatology and Paediatric Dermatology departments of 28 French centres between July 2012 and November 2015. Physicians treating an infant or child weighing < 15 kg for scabies with oral ivermectin were asked to send back a completed standardised and anonymous questionnaire. The data were subsequently analysed. RESULTS: Data were collected on 170 infants and children ranging in age from 1 to 64 months, with body weight of 4 to 14·5 kg, who were treated with oral ivermectin. The mean received dose was 223 μg/kg and 89% of the patients received a systematic second dose. Concomitant topical treatment was administered to 73% of patients. Adverse events were reported in seven patients (4%) and were not severe. At the follow-up visit, 139 (85%) patients had achieved healing. Factors significantly associated with healing were an ivermectin dose > 200 μg/kg (p=0·0005), and a delay between those two doses of < 10 days (p=0·0247). CONCLUSIONS: Our findings suggest the safety and efficacy of ivermectin for the treatment of scabies in infants and young children. This article is protected by copyright. All rights reserved

Le transcodage de l’axe II : une avancée utile

International audienceLa première table de correspondance établie en 2007 entre la CFTMEA et la CIM-10 était loin d'être exhaustive et ne concernait que l'Axe I. La Révision 2010 de la CFTMEA, qui permet un transcodage terme à terme, rend les deux classifications compatibles dans la pratique quotidienne et propose également un transcodage à l'Axe II

La CFTMEA R 2010, présentation des modifications de l’axe I

International audienceLa CFTMEA, classification multiaxiale spécifique de la psychiatrie de l'enfant et de l'adolescent, se différencie du chapitre V de la CIM-10, ainsi que du DSM-IV, classifications syndromiques, par son organisation hiérarchisée

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

PURPOSE: Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary skin phenotype and clinical spectrum of neurodevelopmental manifestations of MTOR-related HI. METHODS: From two cohorts totaling 71 patients with pigmentary mosaicism, we identified 14 patients with Blaschko-linear and one with flag-like pigmentation abnormalities, psychomotor impairment or seizures, and a postzygotic MTOR variant in skin. Patient records, including brain magnetic resonance image (MRI) were reviewed. Immunostaining (n = 3) for melanocyte markers and ultrastructural studies (n = 2) were performed on skin biopsies. RESULTS: MTOR variants were present in skin, but absent from blood in half of cases. In a patient (p.[Glu2419Lys] variant), phosphorylation of p70S6K was constitutively increased. In hypopigmented skin of two patients, we found a decrease in stage 4 melanosomes in melanocytes and keratinocytes. Most patients (80%) had macrocephaly or (hemi)megalencephaly on MRI. CONCLUSION: MTOR-related HI is a recognizable neurocutaneous phenotype of patterned dyspigmentation, epilepsy, intellectual deficiency, and brain overgrowth, and a distinct subtype of hypomelanosis related to somatic mosaicism. Hypopigmentation may be due to a defect in melanogenesis, through mTORC1 activation, similar to hypochromic patches in tuberous sclerosis complex

Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse

Alterations in peripheral and central indices of serotonin (5-hydroxytryptamine, 5-HT) production, storage and signaling have long been associated with autism. The 5-HT transporter gene (HTT, SERT, SLC6A4) has received considerable attention as a potential risk locus for autism-spectrum disorders, as well as disorders with overlapping symptoms, including obsessive-compulsive disorder (OCD). Here, we review our efforts to characterize rare, nonsynonymous polymorphisms in SERT derived from multiplex pedigrees carrying diagnoses of autism and OCD and present the initial stages of our effort to model one of these variants, Gly56Ala, in vivo. We generated a targeting vector to produce the Gly56Ala substitution in the Slc6a4 locus by homologous recombination. Following removal of a neomycin resistance selection cassette, animals exhibiting germline transmission of the Ala56 variant were bred to establish a breeding colony on a 129S6 background, suitable for initial evaluation of biochemical, physiological and behavioral alterations relative to SERT Gly56 (wildtype) animals. SERT Ala56 mice were achieved and exhibit a normal pattern of transmission. The initial growth and gross morphology of these animals is comparable to wildtype littermate controls. The SERT Ala56 variant can be propagated in 129S6 mice without apparent disruption of fertility and growth. We discuss both the opportunities and challenges that await the physiological/behavioral analysis of Gly56Ala transgenic mice, with particular reference to modeling autism-associated traits