Literature DB >> 12162161

[A practical diagnostic approach to mental deficiency in 2002].

V des Portes1, M O Livet, L Vallée.   

Abstract

The identification of an etiology in children with mental deficiency is a major challenge in routine pediatrics. As the result of a workshop leaded by the Société française de neurologie pédiatrique (SFNP), we propose a three steps diagnostic procedure, taking into account several frequent clinical observations leading to further targeted investigations. The yield of systematic imaging and biological screening remains very low, when performed for a non specific isolated mental retardation, without any characteristic clinical features. Yet, it is mandatory for an accurate genetic counseling to know not only the clinical diagnosis of developmental delay, but also the pathophysiology and the underlying molecular mechanism. The SFNP's proposal points out the necessity of a comprehensive clinical process including cautious neurodevelopmental assessment, reliable cognitive and adaptive skills evaluation, and collaboration between different specialists.

Entities:  

Mesh:

Year:  2002        PMID: 12162161     DOI: 10.1016/s0929-693x(01)00973-3

Source DB:  PubMed          Journal:  Arch Pediatr        ISSN: 0929-693X            Impact factor:   1.180


  5 in total

1.  Array-CGH in children with mild intellectual disability: a population-based study.

Authors:  Charles Coutton; Klaus Dieterich; Véronique Satre; Gaëlle Vieville; Florence Amblard; Marie David; Christine Cans; Pierre-Simon Jouk; Francoise Devillard
Journal:  Eur J Pediatr       Date:  2014-07-03       Impact factor: 3.183

2.  Unexplained mental retardation: is brain MRI useful?

Authors:  Fabrice Decobert; Sophie Grabar; Valerie Merzoug; Gabriel Kalifa; Gérard Ponsot; Catherine Adamsbaum; Vincent des Portes
Journal:  Pediatr Radiol       Date:  2005-03-01

3.  The Organization of Diagnosis, Care and Funding for Specific Learning and Developmental Disorders (SLDD): A French Regional Experimental Protocol.

Authors:  Thiébaut-Noël Willig; Vincent Henry; Jean-Claude Netter; Patrick Contis; Cécile Castro-Gutierrez; Claire Oget-Gendre; Christophe Bonnier; Emilie Cabarrou; Laurent Raffier; Agnès Kabantchenko
Journal:  Front Pediatr       Date:  2022-01-05       Impact factor: 3.418

4.  Neurodevelopmental outcome at 2 years of corrected age in fetuses with increased nuchal translucency thickness and normal karyotype compared with matched controls.

Authors:  R Buffin; A Fichez; E Decullier; A Roux; S Bin; D Combourieu; B Pastor-Diez; C Huissoud; J-C Picaud
Journal:  Ultrasound Obstet Gynecol       Date:  2021-04-07       Impact factor: 7.299

Review 5.  Communicating genetic information: a difficult challenge for future pediatricians.

Authors:  Eduardo Rosas-Blum; Pratibha Shirsat; Marie Leiner
Journal:  BMC Med Educ       Date:  2007-06-18       Impact factor: 2.463

  5 in total

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