Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].

Détails

ID Serval
serval:BIB_9B0900787FD9
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].
Périodique
The lancet. Diabetes & endocrinology
Auteur(s)
Busiah K., Drunat S., Vaivre-Douret L., Bonnefond A., Simon A., Flechtner I., Gérard B., Pouvreau N., Elie C., Nimri R., De Vries L., Tubiana-Rufi N., Metz C., Bertrand A.M., Nivot-Adamiak S., de Kerdanet M., Stuckens C., Jennane F., Souchon P.F., Le Tallec C., Désirée C., Pereira S., Dechaume A., Robert J.J., Phillip M., Scharfmann R., Czernichow P., Froguel P., Vaxillaire M., Polak M. (co-dernier), Cavé H. (co-dernier)
Collaborateur(s)
French NDM study group
Contributeur(s)
Abourazzak S., Bachere N., Barat P., Baron S., Bellanne-Chantelot C., Beltrand J., Ben Hamouda H., Beregszaszi M., Bismuth E., Trifunovic H.B., Bortoluzzi M.N., Bouhours-Nouet N., Bruel H., Carel J.C., Cartigny M., Correia C.C., Chivu O., Combe H., Coutant R., Cret V., Crock P., Crosnier H., Dalla-Vale F., David P., Delcroix C., Dini N., Doremus B., Dundar B., Gajdos V., Garandeau P., Gilbert-Bonnemaison E., Godeau T., Gonthier M., Gonzales J., Gueguen-Giroux B., Guilmin-Crepon S., Guillot M., Hasselmann C., Hachicha M., Haereid P.E., Hauschild M., Idres N., Jellimann S., Kapellen T., Kauffmann D., Khallouf E., Kurtz F., Lechuga-Sancho A., Lienhardt-Roussie A., Loeuille G.A., Lorenzini F., Maes M., Martin-Dessilla A., Maton P., Micle I., Mihu M.M., Mignot B., Morin C., Morin D., Nicolescu R., Perrin M., Pradines S., Ramos-Caldagues E., Razafimahefa B., Reynaud R., Ribault V., Richard O., Rooman R., Ser N., Shor R., Simonin G., Sulmont V., Taillebois L., Ventura V., Verkauskienne R., De Vroede M., Von der Weid N., Weill J., Ythier H.
ISSN
2213-8595 (Electronic)
ISSN-L
2213-8587
Statut éditorial
Publié
Date de publication
11/2013
Peer-reviewed
Oui
Volume
1
Numéro
3
Pages
199-207
Langue
anglais
Notes
Publication types: Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
Neonatal diabetes mellitus is a rare genetic form of pancreatic β-cell dysfunction. We compared phenotypic features and clinical outcomes according to genetic subtypes in a cohort of patients diagnosed with neonatal diabetes mellitus before age 1 year, without β-cell autoimmunity and with normal pancreas morphology.
We prospectively investigated patients from 20 countries referred to the French Neonatal Diabetes Mellitus Study Group from 1995 to 2010. Patients with hyperglycaemia requiring treatment with insulin before age 1 year were eligible, provided that they had normal pancreatic morphology as assessed by ultrasonography and negative tests for β-cell autoimmunity. We assessed changes in the 6q24 locus, KATP-channel subunit genes (ABCC8 and KCNJ11), and preproinsulin gene (INS) and investigated associations between genotype and phenotype, with special attention to extra-pancreatic abnormalities.
We tested 174 index patients, of whom 47 (27%) had no detectable genetic defect. Of the remaining 127 index patients, 40 (31%) had 6q24 abnormalities, 43 (34%) had mutations in KCNJ11, 31 (24%) had mutations in ABCC8, and 13 (10%) had mutations in INS. We reported developmental delay with or without epilepsy in 13 index patients (18% of participants with mutations in genes encoding KATP channel subunits). In-depth neuropsychomotor investigations were done at median age 7 years (IQR 1-15) in 27 index patients with mutations in KATP channel subunit genes who did not have developmental delay or epilepsy. Developmental coordination disorder (particularly visual-spatial dyspraxia) or attention deficits were recorded in all index patients who had this testing. Compared with index patients who had mutations in KATP channel subunit genes, those with 6q24 abnormalities had specific features: developmental defects involving the heart, kidneys, or urinary tract (8/36 [22%] vs 2/71 [3%]; p=0·002), intrauterine growth restriction (34/37 [92%] vs 34/70 [48%]; p<0·0001), and early diagnosis (median age 5·0 days, IQR 1·0-14·5 vs 45·5 days, IQR 27·2-95·0; p<0·0001). Remission of neonatal diabetes mellitus occurred in 89 (51%) index patients at a median age of 17 weeks (IQR 9·5-39·0; median follow-up 4·7 years, IQR 1·5-12·8). Recurrence was common, with no difference between the groups who had 6q24 abnormalities versus mutations in KATP channel subunit genes (82% vs 86%; p=0·36).
Neonatal diabetes mellitus is often associated with neuropsychological dysfunction and developmental defects that are specific to the underlying genetic abnormality. A multidisciplinary assessment is therefore essential when patients are diagnosed. Features of neuropsychological dysfunction and developmental defects should be tested for in adults with a history of neonatal diabetes mellitus.
Agence Nationale de la Recherche-Maladies Rares Research Program Grant, the Transnational European Research Grant on Rare Diseases, the Société Francophone du Diabète-Association Française du Diabète, the Association Française du Diabète, Aide aux Jeunes Diabétiques, a CIFRE grant from the French Government, HRA-Pharma, the French Ministry of Education and Research, and the Société Française de Pédiatrie.
Mots-clé
Child, Chromosome Aberrations, Chromosomes, Human, Pair 6/genetics, Cohort Studies, Developmental Disabilities/genetics, Developmental Disabilities/pathology, Diabetes Mellitus/epidemiology, Diabetes Mellitus/genetics, France/epidemiology, Genetic Association Studies, Humans, Infant, Infant, Newborn, Insulin/genetics, Kaplan-Meier Estimate, Mutation/genetics, Pancreas/diagnostic imaging, Phenotype, Potassium Channels, Inwardly Rectifying/genetics, Prospective Studies, Protein Precursors/genetics, Psychomotor Disorders/genetics, Psychomotor Disorders/pathology, Sulfonylurea Receptors/genetics, Ultrasonography
Pubmed
Web of science
Création de la notice
28/02/2020 17:09
Dernière modification de la notice
26/03/2020 7:26
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