Screening for fragile X syndrome: results from a school for mentally retarded children.

Full Abstract

Fragile X syndrome is the most common inherited form of familial mental retardation. The purpose of this study was to identify yet unrecognized fragile X individuals and to estimate the frequency of both the FRAXA and FRAXE forms of the disease in a population of mentally retarded children attending a special school in Croatia. The results are reported of molecular screening of 114 children with mild to severe mental retardation. Three individuals (2.6%) with the FRAXA form of the fragile X syndrome and one boy (0.9%) with FRAXE mental retardation were detected; a total of four newly diagnosed fragile X families were identified. Closer clinical examination revealed that behavioural and speech disturbances were clearly present among all fragile X cases (both FRAXA and FRAXE), indicating that these features could be additional diagnostic criteria for the preselection of individuals at risk. Conclusion:
Fragile X screening among mentally retarded children attending a special school should be highly encouraged to reveal the cause of mental retardation and to detect yet unrecognized fragile X individuals. The frequency of fragile X syndrome in a such population in Croatia was found to correlate with similar results from previous studies. However, since at the time of diagnosis all affected families had a second or even a third child born, earlier diagnosis should be considered to provide greater benefit to fragile X families.

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Author information

Author/s: Hecimovic, S (S); Tarnik, I Petek (IP); Baric, I (I); Cakarun, Z (Z); Pavelic, K (K);

Affiliation: Division of Molecular Medicine, Ruder Boskovic Institute, Zagreb, Croatia. silva(-atsign-)icarus.wustl.edu

Journal and publication information

Publication Type: Journal Article

Journal: Acta paediatrica (Oslo, Norway : 1992) (Acta Paediatr), published in Norway. (Language: eng)

Reference: 2002-; vol 91 (issue 5) : pp 535-9

Dates: Created 2002/07/12; Completed 2003/01/03; Revised 2004/11/17;

PMID: 12113322, status: MEDLINE (last retrieval date: 11/6/2008)

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Adolescent
Child
Croatia - epidemiology
Education of Mentally Retarded - statistics & numerical data
Female
Fragile X Syndrome - epidemiology; genetics
Humans

Humans
Intelligence Tests
Male
Mass Screening - statistics & numerical data
Prevalence
RNA-Binding Proteins - analysis; genetics
Severity of Illness Index

Associated Chemicals: FXR1 protein, human (0) ; FXR2 protein, human (0) ; RNA-Binding Proteins (0)

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