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Sanda Magureanu

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

ELEMENTE ESENTIALE IN INVESTIGAREA TULBURARII GLOBALE DE DEZVOLTARE SI A DIZABILITATII INTELECTUALE LA COPIL

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Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 4, An 2014
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

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ELEMENTE ESENTIALE IN INVESTIGAREA TULBURARII GLOBALE DE DEZVOLTARE SI A DIZABILITATII INTELECTUALE LA COPIL

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REZUMAT

Obiective. Lucrarea subliniază modalităţile de investigare a etiologiei tulburării globale de dezvoltare (TGD), retardului mintal (RM) sau dizabilităţii intelectuale (DI) şi ordinea efectuării acestora. TGD şi RM/DI sunt entităţi cronice cu debut în perioada de dezvoltare, care afectează funcţiile personale, sociale, academice, ocupaţionale. Elucidarea etiologiei este importantă pentru stabilirea managementului, prognosticului, riscului de recurenţă, eventualelor posibilităţi de prevenţie şi pentru scăderea impactului psihoemoţional asupra familiilor.

Material şi metodă. Literatura relevantă a fost revizuită, în prezent fiind publicate recomandări de abordare a pacienţilor cu TGD/RM, pornind de la un istoric complet, o examinare clinică minuţioasă, apoi formulând o suspiciune etiologică şi incluzând teste genetice, metabolice, neuroimagistice.

Rezultate şi concluzii. Progresele din domeniul geneticii au modificat abordarea copilului cu TGD de etiologie neelucidată, crescând rata de identificare a anomaliilor cromozomiale patogenice. Hibridizarea genomică comparativă este recomandată de primă linie, cu cariotiparea ca investigaţie complementară. Secvenţierea permite analiza numeroaselor gene implicate în TGD, iar consultul genetic prioritizează investigaţiile. Identificarea diagnosticului etiologic oferă posibilitatea stabilirii unor planuri de management anticipativ, individualizat, în vederea limitării complicaţiilor şi comorbidităţilor asociate, pentru îmbunătăţirea calităţii vieţii pacienţilor.

Cuvinte cheie: tulburare de dezvoltare, retard mintal, citogenetică, metabolic

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KEYPOINTS IN INVESTIGATING THE CHILD WITH GLOBAL DEVELOPMENTAL DELAY AND INTELLECTUAL DISABILITY

SELECT ISSUE

Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 4, An 2014
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

Indexed

DOI - Crossref
Similarity Check by iThenticate, worldwide No 1 professional plagiarism checking system
DOAJ
Scopus
NLM Catalog
Ebsco Host - Medline
Semantic Scholar

HIGHLIGHTS

National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

KEYPOINTS IN INVESTIGATING THE CHILD WITH GLOBAL DEVELOPMENTAL DELAY AND INTELLECTUAL DISABILITY

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ABSTRACT

Objective. This paper highlights the main lines of etiological investigation of global developmental delay (GDD), mental retardation (MR) or intellectual disability (ID) and their specific order. GDD and MR/ID are chronic entities with onset during the developmental period, affecting personal, social, academic, occupational functions. Elucidating the etiology is important for establishing the management, for assessing the outcome, the recurrence risk, potential opportunities for prevention and for decreasing the psycho-emotional impact on families.

Material and method. Relevant literature was reviewed, currently being published recommendations for the diagnostic approach of children with GDD/MR, starting with a thorough history, a thorough clinical examination, then formulating a suspected etiology and including genetic, metabolic, neuroimaging testing.

Results and conclusions. Advances in genetics have changed the approach of children with unexplained GDD, increasing the rate of pathogenic chromosomal abnormalities identification. Comparative genomic hybridization is recommended as first-line investigation, with karyotyping as complementary. Sequencing allows the study of many genes involved in GDD and genetic consultation prioritizes the investigations. The identification of the etiologic diagnosis offers the possibility of establishing anticipatory, individualized management plans, in order to limit the complications and associated comorbidities, thereby improving the quality of life.

Keywords: developmental delay, mental retardation, cytogenetic, metabolic

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