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Psychometric assessment of families with X-linked mental retardation

✍ Scribed by Roosmalen, Tanja van; Smits, Arie P.T.; Thoonen, Geert H.J.; Hamel, Ben C.J.; Assman-Hulmans, Claire F.C.H.; Gabreels, Fons J.M.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 27 KB
Volume: 83
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990402)83:4<264::aid-ajmg6>3.0.co;2-r

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✦ Synopsis

As part of an integrated approach to DNAlinkage analysis in X-linked mental retardation (XLMR), 29 members of five families suspected of having XLMR underwent psychometric assessment. Mental retardation was confirmed in all participants. The range of mental retardation varied from mild to profound within and between families. In addition, these preliminary results indicated family-specific cognitive profiles in MRX45 and MRX46. The fact that two nonoverlapping loci were involved provides strong evidence that specific cognitive profiles are linked to specific loci (genes) in mental retardation. We therefore recommend the application of standardised psychometric tests for the assessment of XLMR.

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