PMID: 3384197Apr 1, 1988Paper

Complexity of the cognitive phenotype of an inherited form of learning disability

Developmental Medicine and Child Neurology
J C Elbert, T W Seale

Abstract

An extended kindred with familial reading and spelling disorder was evaluated in a detailed genetic study. Comprehensive evaluations of cognitive functioning, verbal and non-verbal information-processing and academic achievement were obtained in order to arrive at a detailed phenotypic characterization of 'affected' and 'unaffected' family members. The pattern of major deficiencies in reading and spelling in this family was consistent with an autosomal dominant genetic determinant which had variable expression and incomplete penetrance. Although similar phonemic segmentation and sequencing difficulty appeared to characterize many of the affected family members, there was a high degree of phenotypic variability within this kindred. Caution is advised in interpreting the results of studies of subtypes of dyslexia which fail to take etiology into account, and it is argued that rigorous within-kindred phenotypic studies of dyslexia should be done before generalizations are made to unrelated families.

References

Apr 1, 1978·The British Journal of Psychiatry : the Journal of Mental Science·J C DeFriesF I Lewitter
Apr 1, 1975·Developmental Medicine and Child Neurology·T MattisI Rapin
Aug 1, 1986·Journal of Clinical and Experimental Neuropsychology·R MorrisP Satz
Mar 1, 1987·Journal of Learning Disabilities·M Hiscock, M Kinsbourne
Oct 1, 1973·Developmental Medicine and Child Neurology·E Boder
Jan 1, 1985·Annals of Dyslexia·A M Galaburda

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Citations

Dec 1, 1992·Annals of Dyslexia·S Smith
Jan 1, 1991·Journal of Child Psychology and Psychiatry, and Allied Disciplines·E Taylor

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