Intellectual Disability in KATP Channel Neonatal Diabetes.
Objective: Neonatal diabetes has been shown to be associated with high neuropsychiatric morbidity in a genotype-phenotype-dependent manner. However, the specific impact of different mutations on intellectual functioning is still insufficiently characterized. Specifically, only a small number of subj...
| Publicado en: | Diabetes Care Vol. 43; no. 3; pp. 526 - 534 |
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| Autores principales: | , , , , , , , , , |
| Formato: | research Journal Article |
| Publicado: |
American Diabetes Association
Mar2020
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=141908621&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 141908621 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 01495992 1G7 jtl: Diabetes Care issn: 01495992 maglogo: N pubinfo: dt: Mar2020 vid: 43 iid: 3 pid: 1367 pub: American Diabetes Association place: Arlington, Virginia artinfo: ui: 141908621 141908621 NLM31932458 141908621 10.2337/dc19-1013 NLM31932458 141908621 ppf: 526 ppct: 8 formats: tig: atl: Intellectual Disability in KATP Channel Neonatal Diabetes. aug: au: Svalastoga, Pernille Sulen, Åsta Fehn, Jarle R. Aukland, Stein M. Irgens, Henrik Sirnes, Eivind Fevang, Silje K. E. Valen, Eivind Elgen, Irene B. Njølstad, Pål R. affil: Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway sug: subj: Diabetes Mellitus, Type 1 Intellectual Disability Potassium Genotype Adolescence Male Amino Acids Child, Preschool Diabetes Mellitus, Type 1 Complications Case Control Studies Mutation Genetic Techniques Valine Infant, Newborn Female Methionine Child Human Infant, Newborn, Diseases Intellectual Disability Epidemiology Diabetes Mellitus, Type 1 Epidemiology Prospective Studies Norway Infant, Newborn, Diseases Psychosocial Factors Validation Studies Comparative Studies Evaluation Research Multicenter Studies Adolescent: 13-18 years Child, Preschool: 2-5 years Infant, Newborn: birth-1 month Child: 6-12 years Male Female ab: Objective: Neonatal diabetes has been shown to be associated with high neuropsychiatric morbidity in a genotype-phenotype-dependent manner. However, the specific impact of different mutations on intellectual functioning is still insufficiently characterized. Specifically, only a small number of subjects with developmental delay have been comprehensively assessed, creating a knowledge gap about patients carrying the heaviest burden.Research Design and Methods: We assessed the intellectual functioning and mental health of the complete Norwegian population with KATP channel neonatal diabetes. Eight sulfonylurea-treated children (five with the p.V59M genotype [KCNJ11]) were assessed using age-matched control subjects with type 1 diabetes. The investigations included a physical and motor developmental examination, cerebral MRI, psychometrical examination, and questionnaires assessing intellectual capabilities and psychiatric morbidity.Results: A strong genotype-phenotype correlation was found, revealing the p.V59M genotype as highly associated with substantial intellectual disability, with no significant correlation with the time of sulfonylurea initiation. Consistent with previous studies, other genotypes were associated with minor cognitive impairment. Cerebral MRI verified normal brain anatomy in all but one child.Conclusions: We here presented a comprehensive assessment of intellectual functioning in the largest cohort of p.V59M subjects to date. The level of intellectual disability revealed not only changes the interpretation of other psychological measures but downplays a strong protective effect of sulfonylurea. Within the scope of this study, we could not find evidence supporting an early treatment start to be beneficial, although a weaker effect cannot be ruled out. pubtype: Academic Journal doctype: research Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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