One of the most common chromosomal deletions is a loss of genetic
material from the long arm of chromosome 18. Most individuals with this
condition exhibit mental retardation (68%), yet previous attempts to link
cognitive status to deletion size have not shown an association, possibly
because cases with additional genetic abnormalities were included. We
studied 46 participants ranging from 3 to 35 years of age who had a pure
genetic abnormality by excluding those with mosaicism or complex genetic
rearrangements. Our patients had terminal deletions ranging from a
proximal breakpoint at 18q21.1 (greater genetic abnormality, larger
deletion size) to a more distal breakpoint at 18q23 characterized with
molecular genetic techniques. Cognitive ability, assessed with the
age-appropriate measure (Bayley, 1993,
Differential Ability Scale, Wechsler Scales), ranged from IQ = 49 to 113,
with a predominance of mild and moderate mental retardation. Using
multivariate regression, deletion size breakpoint rank order was predicted
by cognitive ability, age, and adaptive behavior (Vineland Adaptive
Behavior Scales), accounting for 36% of the variance in deletion size.
However, lower cognitive ability (beta = .34, p = .032) and
younger age (beta = .296, p = .024) predicted a larger deletion
size, but adaptive behavior (beta = .225, p = .15) did not. An
additional multivariate regression showed that cognitive ability and age
together accounted for 33% of the variance in deletion size, whereas
univariate regression showed that cognitive ability accounted for 26% of
the variance and age accounted for 11% of the variance. These findings
suggest that degree of cognitive impairment is associated with genetic
abnormality when a large sample of individuals with “pure”
deletions of genetic material from chromosome 18 is examined.
(JINS, 2005, 11, 584–590.)