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1.
Am J Med Genet ; 30(1-2): 191-200, 1988.
Article in English | MEDLINE | ID: mdl-3177444

ABSTRACT

Testing 20 boys with the fragile X (or Martin-Bell) syndrome with the Kaufman Assessment Battery for Children (K-ABC) showed a consistent pattern of strengths and weaknesses that may be useful in predicting a fragile X positive result from cytogenetic testing. This K-ABC pattern included 1) Sequential Scale score less than the Simultaneous Scale score; 2) Mental Processing Composite less than the Achievement Scale score; 3) Spatial Memory subtest score less than the Matrix Analogies subtest score; and 4) Arithmetic subtest score less than the mean of the Achievement subtest scores. A comparison group of 20 boys did not demonstrate such a pattern. Testing with the K-ABC should be considered for boys who present as learning disabled, hyperactive with attentional problems, or mildly retarded. Boys with three or four of the four features of the K-ABC fragile X pattern should be considered for medical evaluation and cytogenetic testing.


Subject(s)
Cognition , Fragile X Syndrome/psychology , Sex Chromosome Aberrations/psychology , Child , Child, Preschool , Fragile X Syndrome/diagnosis , Humans , Male , Mathematics , Psychological Tests
2.
Am J Dis Child ; 141(2): 184-7, 1987 Feb.
Article in English | MEDLINE | ID: mdl-3812386

ABSTRACT

Thirty prepubertal boys with fragile X syndrome (fra[X]) were evaluated retrospectively to document the incidence of recurrent otitis media by physician records. The number of documented otitis media infections in the first five years of life was statistically more than those of the normal male siblings and of unrelated, cytogenetically normal controls. Nineteen (63%) of the 30 boys with fra(X) experienced six or more otitis infections. Of the 30 boys with fra(X), 13 (43%) were treated with polyethylene tubes or prophylactic antibiotics for persistent middle ear effusion. Males with fra(X) are at high risk for recurrent ear disease, which may exacerbate the cognitive, language, and behavior problems that exist in this syndrome.


Subject(s)
Fragile X Syndrome/complications , Otitis Media/complications , Sex Chromosome Aberrations/complications , Child , Humans , Male , Otitis Media/genetics , Recurrence , Retrospective Studies , Risk
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