[Diagnostic investigations for an unexplained developmental disability].
Archives de Pédiatrie. 2012-02-01; 19(2): 194-207
DOI: 10.1016/j.arcped.2011.11.014
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1. Arch Pediatr. 2012 Feb;19(2):194-207. doi: 10.1016/j.arcped.2011.11.014. Epub
2012 Jan 14.
[Diagnostic investigations for an unexplained developmental disability].
[Article in French]
Verloes A(1), Héron D, Billette de Villemeur T, Afenjar A, Baumann C,
Bahi-Buisson N, Charles P, Faudet A, Jacquette A, Mignot C, Moutard ML, Passemard
S, Rio M, Robel L, Rougeot C, Ville D, Burglen L, des Portes V; Réseau
DéfiScience.
Collaborators: Amsallem D, Berquin P, Boespflug-Tanguy O, Bonnot O, Castelnau P,
Chabanne N, Chabrol B, Chaix Y, Cohen D, Desguerre I, Doco-Fenzy M, Goizet C,
Lacombe D, Lyonnet S, Mathieu M, Munnich A, Manouvrier S, Morin G, Motte J, Odent
S, Olivier-Faivre L, Pasquier L, Peudenier S, Philip N, Pitelet G, Richelme C,
Rivier F, Sarda P, Tardieu M, Toutain A, Vallée L.
Author information:
(1)Département de génétique, CHU Robert-Debré, 48, boulevard Sérurier, 75019
Paris, France.
Developmental disability/mental retardation is a major public health problem and
a common cause of consultation in pediatrics, neuropediatrics, and genetics.
Etiologies of mental retardation are highly heterogeneous. Diagnostic strategies
have been explored in a small number of consensus publications, essentially from
English-speaking countries. In these publications, the utility of the
conventional karyotype, fragile X screening, metabolic workup, and brain imaging
were discussed. Recently, investigations in mental disabilities have been
dramatically modified by molecular cytogenetics and the emergence of new
metabolic pathologies. Based on the published experiments, the Reference centers
for rare disease network « mental deficiencies with rare causes » elaborated an
updated protocol for the investigation of nonsyndromal mental disability that
takes into account recent innovations in genetics and genomics. Whenever local
facilities make it possible, we recommend array CGH investigation as the first
step or, when CGH is not available, a combination of classic karyotype with
systematic screening of telomeric and interstitial rearrangements by MLPA,
fragile X screening in both sexes, and a reorientation of metabolic screening
toward certain diseases that have recently been described: congenital disorders
of glycosylation (CDG), thyroid hormone carrier deficiency, and creatine
metabolism deficiency. We recommend MRI imaging only if head size is abnormal, if
neurological examination is abnormal, or regression occurs if walking is not
achieved by 2 years, or if development is severely delayed.
Copyright © 2012. Published by Elsevier SAS.. All rights reserved.
DOI: 10.1016/j.arcped.2011.11.014
PMID: 22245660 [Indexed for MEDLINE]