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Motor Development and Neuropsychological

Patterns in Persons with Down Syndrome

Article in Behavior Genetics · June 2006

DOI: 10.1007/s10519-006-9057-8 · Source: PubMed

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Behavior Genetics, Vol. 36, No. 3, May 2006 (Ó 2006)
DOI: 10.1007/s10519-006-9057-8

Motor Development and Neuropsychological Patterns

in Persons with Down Syndrome

Stefano Vicari1,2

Received 11 June 2005—Final July 7 2005

Neuropsychological research has permitted defining specific cognitive profiles among

individuals with mental retardation (MR) of different etiology. Namely, the cognitive profile
of people with Down syndrome (DS) is often reported to be characterized by a deficit in
language abilities that usually exceed impairments in visual–spatial capacities. However,
recent studies have demonstrated a more complex neuropsychological profile in this
population, with atypical development in the cognitive and in the linguistic domain. This
paper is dedicated to reviewing literature regarding motor, linguistic and cognitive abilities in
DS. Our aim is to present evidences supporting the hypothesis that individuals with these
syndrome exhibit a peculiar motor development and neuropsychological profile with some
abilities more preserved and others more impaired. This finding may have theoretical and
practical implications. In fact, a better definition of the cognitive pattern in DS may contribute
to understand the nature of MR in general and, also, it may suggests individualized
rehabilitation treatment protocols.
KEY WORDS: Brain development; cognition; Down syndrome; language; memory; Trisomy 21.

INTRODUCTION different laboratories have demonstrated a more

complex neuropsychological profile in this popula-
In the last years, neuropsychological research has
tion, with atypical development not only in the cog-
permitted defining different cognitive profiles among
nitive but also in the linguistic domain (for a review
subjects with mental retardation (MR) of different
Vicari et al., 2004a, b).
etiology. Numerous authors have stressed that cog-
A quite different pattern is often reported in
nitive profile of individuals with DS is characterized
other syndromes as Williams syndrome (WS). This is
by a remarkable deficit in language abilities that
another genetic condition, less frequent but equally
usually exceed impairments in visual–spatial abilities.
characterized by MR and typified by a number of
Several recent studies suggest, however, that a char-
severe medical anomalies, such as facial dysmor-
acterization of the cognitive profiles of DS children in
phology and abnormalities of the cardiovascular
terms of a dissociation between language and
system (Siegmuller and Bartke, 2004). Differently
visual–spatial abilities is too simplistic. Studies from
from DS, WS children often show marked impair-
ment in certain visual–spatial abilities (especially
1
Department of Neurology and Rehabilitation, Institute of
praxic-constructive) and relative preservation of both
Research and Clinical Care Bambino Gesù Children Hospital, productive and receptive language, at least concern-
Santa Marinella, Rome, Italy. ing the phonological elements (Vicari et al., 2004a,
2
To whom correspondence should be addressed at U.O.S. Neuro b). Moreover, different cognitive profiles have been
logia e Riabilitazione, IRCCS, Ospedale Pediatrico Bambino also described in individuals with comparable intel-
Gesù, Lungomare Guglielmo Marconi 36, I-00058, Santa Mari-
nella, Rome, Italy. Tel.: +39-0766-5244258; Fax: +39-0766-
lectual deficits or even with the same etiopathological
5244244; e-mail: vicari@opbg.net picture (Pezzini et al., 1999). All these observations
355
0001-8244/06/0500-0355/0 Ó 2006 Springer Science+Business Media, Inc.
356
seem to support a theoretical approach that considers
MR not as a mere slowing of normal cognitive
development, but as distinct, individual profiles, that
can be qualitatively specified. In line with this theo-
retical point of view (which also suggests the need for
strongly individualized rehabilitation treatment pro-
tocols), many recent studies emphasized the need to
better define not only the impaired cognitive abilities
in each subject, but just as importantly, the respective
strengths, or relatively preserved abilities in children
with MR.
This paper is dedicated to reviewing the neuro-
psychological literature regarding cognitive, motor
and behavioral abilities of individuals with DS.
According with the theoretical perspective reported
above, our main goal is to report evidences supporting
the hypothesis that individuals with DS exhibit a
peculiar motor development and neuropsychological
profile with some abilities more preserved and others
more impaired. The possible correlation between
neuropsychological profile and brain development in
DS will be also presented and discussed.
MOTOR DEVELOPMENT
Several pioneer studies (e.g., Carr, 1970; Melyn
and White, 1973) have documented that children with
DS usually do not acquire motor skills at the same
rate as their typically developing (TD) peers. How-
ever, children with DS may achieve rolling between 5
and 6.4 months, independent sitting between 8.5 and
11.7 months, thus suggesting the emergence of motor
milestones are only slightly retarded in DS. None-
theless, the delays is greater for later developing
motor skills: DS infants crawl on hands and knees
between 12.2 and 17.3 months of age and walk be-
tween 15 and 74 months (Melyn and White, 1973).
Moreover, it must be remarked the enormous range
acquisition in the motor milestones of children with
DS (it may be useful to remember here that TD peers
walk independently earlier than 18 months).
Consistently with these evidences, children with
DS seem to follow the same sequence of motor
milestones of TD infants (Palisano et al., 2001) albeit
qualitative differences or atypical movement patterns
in order to maintain postural stability are often
reported. For example, these children often sit with
legs spread extremely far away from each other, walk
with a wide base, and to pass from a prone to a sitting
position they spread the legs and push up with the
hands (Lydic and Steele, 1979). Unusual postures
may be also connected to the presence of hypotonia,
Stefano Vicari
frequently associated with the syndrome. The lack of
muscle tone is certainly related to the reduced
strength in children and adolescents even if the exact
influence of hypotonia on motor development re-
mains to be determined. Davis and Kelso (1982)
noted, for example, that the most important muscular
dysfunction in DS is not really represented by
hypotonia but by a lack of control of muscles stiff-
ness. Therefore, although hypotonia is one of the
most frequent muscular characteristic in infants with
DS, its role in the early motor development of these
children is far to be determined.
GLOBAL COGNITIVE DEVELOPMENT:
THE IQ LEVEL
IQ in people with DS is usually in the moderately
to severely retarded range (IQ=25–55) and Mental
Age is rarely above of 8 years (Gibson, 1978). How-
ever, few individuals with DS have been reported to
have IQ in the normal range (Epstein, 1989). In a re-
cent paper, Vicari et al. (2004a, b) reported IQ data
from a sample of 56 Italian individuals with DS. The
mean IQ value was 44.7 with a range varying from 28
to 71. What is worthy to note is that, in DS differently
from the typically developing children, IQ is not con-
stant across the life but it progressively decreases with
age (Pennington et al., 2003). Consistently, Vicari
et al. (2004a) reported IQ values ranging between 45
and 71 in children with DS of 6.5–8 years of chrono-
logical age. IQ was, instead, lower in adolescents and
young adults (chronological age=12.2–25.9) varying
between 28 and 47.
It must be also remarked that IQ in adults with
DS may be also influenced by the increased risk of
early onset dementia of the Alzheimer type often
reported in this syndrome (Bush and Beail, 2004).
LINGUISTIC ABILITIES
Despite rare exceptions (Vallar and Papagno,
1993; Rondal, 1995; Papagno and Vallar, 2001),
adolescents and young adults with DS usually exhibit
very poor linguistic capacities. It is worthy to note
that there is no definitive evidence that language
impairment in DS is merely a consequence of the
hearing loss. This is reported for 40–80% of indi-
viduals (Davis, 1996) and, usually, it is a consequence
of recurrent periods of otitis media that may deter-
mine a conductive loss varying from mild to moder-
ate and, less frequently, sensorineural loss in
young adults (Roizen et al., 1993). Studies specifically
Motor Development and Neuropsychological Patterns
conducted did not demonstrate a relationship be-
tween hearing loss and linguistic disorders (Marcell,
1995; Jarrold and Baddeley, 1997) or found it to
account for only a small percentage of variance, less
than 10%, in expressive morphosyntax (Chapman
et al., 2000).
Impairment in language development of children
with DS is evident when they are compared with
typical developing peers of the same mental age.
Franco and Wishart (1995), Caselli et al. (1998),
Singer Harris et al. (1997) and Iverson et al. (2003)
have, for example, described a more extensive use of
communicative gestures compared with TD infants at
the same stage of communicative-linguistic develop-
ment. This ‘‘advantage’’ in the gestural modality is
interpreted by the researchers as an indirect sign of a
verbal ability that is having trouble developing
adequately. The difficulties described in DS children
do not only emerge in comparison with TD children
of similar mental age (Fowler, 1990; Miller, 1992;
Chapman, 1995), but are also particularly evident
when their performances are compared to those of
individuals with MR of different etiology such as
Williams syndrome (Wang and Bellugi, 1994; Klein
and Mervis, 1999; Mervis and Robinson, 2000; Vicari
et al., 2000a).
Many studies examining the different compo-
nents of linguistic abilities in DS have pointed out
marked difficulty in the area of linguistic production,
which is often limited to a telegraphic type of utter-
ance with a highly reduced use of function words
such as articles, prepositions, pronouns, etc. (Rondal
et al., 1988; Miller, 1992; Rondal, 1993; Chapman,
1995; Vicari et al., 2000a). Fabbretti et al. (1997)
compared linguistic production of DS adolescents
and TD controls (matched on Mean Length of
Utterance, MLU) on a story description task. The
results revealed strong individual differences in the
sample of individuals with DS. Data analysis focused
on a subset of lexical, morphological and syntactic
aspects of language use. Albeit the two groups used a
similar lexical repertoire, individuals with Down
syndrome made more omissions of free morphemes
than TD children and used unusual syntactic and
pragmatic forms. Other research focused on the
development of morphosyntactic skills has uncovered
important and specific problems in this area.
Chapman (1995) have shown how some morpho-
syntactic aspects are jeopardized to a greater extent
than other linguistic measures, such as MLU in
morphemes. The development of MLU in DS chil-
dren was thoroughly investigated by Rondal and
357
associates (1978, 1988). Although they confirm that
MLU is markedly delayed in children with DS, they
also note that MLU is correlated with chronological
age even within the DS population, which means that
it can be used as an index of grammatical change.
Other studies focus on the potential dissociation
between lexical and morphosyntactic abilities in
children with DS. Singer Harris et al. (1997) com-
pared the communicative and linguistic development
of two groups of children with mental retardation,
DS and WS. The results of the comparison show an
overall delay in the linguistic area for both groups.
Nevertheless, more detailed examination reveals a
number of differences: children with DS display
specific problems in the knowledge and use of
grammatical features, whereas subjects with WS
display levels of grammar appropriate for their level
of lexical development.
In front of such poor linguistic production,
comprehension is less impaired and a more pro-
nounced deficit in verbal production versus compre-
hension seems to occur starting from a development
age of about 18 months. Furthermore, while com-
prehension initially seems to develop in parallel with
the global cognitive level, this linguistic ability grad-
ually lags behind the stage of cognitive development
to which the children belong, even though it remains
better than the production domain.
In contrast with the generalized and compro-
mised linguistic pattern observed in older children,
early linguistic development in infants with DS pre-
sents some surprises, with a much less even pattern.
In fact, in a precocious phase of development, pro-
duction and lexical comprehension abilities appear
quantitatively and qualitatively comparable to those
of TD children with the same mental age (Cromer,
1987; Fowler, 1990). Vicari et al. (2000a) explored
the acquisition of language in children with DS
focusing on the potential dissociation between men-
tal age and specific aspects of language. Particular
attention was given on the emergence of morpho-
syntactic abilities compared with the lexicon. Fifteen
children with DS (varying in chronological age from
4 to 7 years) and 15 normal controls matched on
mental age participated in the study. The results
showed for children with DS a lower performance in
language abilities with respect to the TD controls. No
dissociation was evident between lexical and cogni-
tive abilities in either group, but specific morpho-
syntactic difficulties emerged both in comprehension
and production for the group formed by participants
with DS.
358
In summary: with increasing age, the split be-
tween lexical and morphosyntactic abilities decreases
and a generalized picture of linguistic difficulty
emerges (Fowler, 1990; Miller, 1992; Fabbretti et al.,
1997; Vicari et al., 2004a). All these findings seem to
suggest that linguistic characteristics of DS may de-
velop differently along distinct developmental tra-
jectories. As Paterson et al. (1999) have argued,
linguistic and cognitive skills in adolescents are not
predictable on the basis of the pattern exhibited at
younger ages and, consequently, researchers ‘‘...
cannot rely on phenotypic outcomes to make gener-
alizations about impaired or intact modules in the
initial state.’’
VISUAL–SPATIAL ABILITIES
In the visual–spatial domain individuals with DS
usually perform consistently to their mental age. This
relative strength in DS contrast with a greater general
difficulty on spatial constructive processing often
reported in children with WS. However, WS people is
usually relatively preserved in visual–perceptual
abilities such as, for example, facial recognition
(Mervis et al., 1999; Pezzini et al., 1999; Bellugi and
St. George, 2001).
In a very recent study, Vicari et al. (2005)
described a discrepancy in the performance level
achieved by individuals with DS in the visual and
spatial domains. The group with DS were signifi-
cantly poorer than mental age TD matched individ-
uals when visual perceptual and imagery material had
to be processed; however, when the task involved the
processing of spatial data, performance of DS and
TD participants did not significantly differ. To our
knowledge, this is the first description of reduced
visual but relatively preserved spatial abilities in DS.
MEMORY
Studies from memory gave us further informa-
tion about cognitive and linguistic capabilities in DS,
contributing to a better definition of their neuropsy-
chological profile.
Many previous studies have documented an
impairment in verbal short-term and working mem-
ory, measured by digit or word span, in individuals
with DS compared to groups of mental age-matched
controls (for a review Vicari and Carlesimo, 2002).
Working memory (WM) is defined as a limited
capacity system for the temporary storage of infor-
mation held for further manipulation (Baddeley and
Stefano Vicari
Hitch, 1974; Baddeley, 1986). WM is not sub-served
by a unitary store but by the co-operation of two
major systems. The first is a Central Executive Sys-
tem, a limited capacity central processor able to
temporarily store and process information from
many modalities. The second major system of the
WM model actually consists of a number of periph-
eral Slave Systems, or limited capacity systems, which
temporarily store and rehearse information belonging
to a single modality when the flow of data surpasses
the capacity of the Central Executive System. The
Articulatory Loop is a two-component system spe-
cialized for the temporary storage of verbal material.
One component is devoted to the passive mainte-
nance of verbal information in a phonological code
(Phonological Store). The other component (Articu-
latory Rehearsal) prevents the decay of material
stored in the Phonological Store by refreshing the
memory trace. Moreover, it is involved in the
re-coding of visually presented verbal material into a
phonological format (Baddeley, 1986).
The Articulatory Loop model can account for
two robust experimental findings in verbal span: the
phonological similarity effect and the word-length
effect. The first effect refers to the phenomenon that
strings formed by phonologically similar words (e.g.,
rat, bat, cat, mat) are more difficult to recall imme-
diately after presentation than strings formed by
phonologically dissimilar words (e.g., fish, girl, bus,
hand). The hypothesis that verbal material is held in
an acoustic format in the Phonological Store and that
as a consequence acoustically similar words form less
distinctive memory traces may explain this finding.
The word-length effect refers to the finding that
memory span is longer for strings of short words
(e.g., bus, pig, car, tree) than for lists of long words
(e.g., banana, elephant, policeman, kangaroo)
(Baddeley and Hitch, 1974). This finding is com-
monly interpreted as evidence of the contribution of
articulatory rehearsal to verbal span since long words
take longer to be rehearsed than short words.
The visual–spatial sketchpad is the second
peripheral slave system and it is specialized for the
temporary storage of visual material. Although the
functioning of this system has been far less investi-
gated than that of the Articulatory Loop, there is
reason to believe that also here there is an internal
fractionation of structure and functioning. Indeed,
clinical and experimental data support the hypothesis
that temporary memory for visual-object information
(such as registering colors and shapes) and for the
visual–spatial location of objects are processed by
Motor Development and Neuropsychological Patterns
different, but functionally related, subsystems (Logie,
1995; Della Sala and Logie, 2002; Vicari et al., 2003).
Hulme and Mackenzie (1992) made a qualitative
analysis of the verbal short-term memory (STM)
disorder in DS in a study based on Baddeley’s model
of working memory. These authors administered
span tests for phonologically similar and dissimilar
verbal sequences and for words of increasing length
to groups of DS, MR individuals of various etiology,
mental age-matched TD children. They also assessed
articulatory speed using vocalization tasks of syllable
sequences. The results showed that individuals with
MR (Down and non-Down) had reduced spans than
TD children. Moreover, MR groups failed to show
phonological similarity and word length effects as
well as significant correlation between articulatory
speed and span size which, instead, was significant in
the group of TD children. Hulme and Mackenzie
(1992) interpreted these data as evidence of a reduced
contribution of the articulatory loop to the verbal
span of persons with MR. In particular, the disabled
persons would tend not to repeat the verbal sequences
which, as a result, would decay rapidly from the
phonological store.
At partial variance with Hulme and MacKen-
zie’s results, Jarrold et al. (2000) and Kanno and
Ikeda (2002) documented a significant word-length
effect in children with DS and mental age-matched
TD children. However, no correlation was found
between span extension and speech rate.
These results raise a great deal of perplexity
about the mechanisms underlying the word-length
effect in the verbal span of individuals with DS and of
very young TD children. According to Jarrold et al.
(2000), the better memory for strings of short than of
long words in these individuals cannot be the effect of
articulatory rehearsal (neither of the two groups
spontaneously engaged in rehearsal) but rather of
more time needed by the examiner to pronounce
strings of long than of short words, with greater de-
cay from the phonological buffer of the former than
the latter. The non-use of the rehearsal mechanism in
very young TD children (forming the control groups
in the above-mentioned studies) is also at odds with
the hypothesis that defective functioning (or a lack of
spontaneous utilization) of the rehearsal mechanism
is at the base of the poorer verbal span exhibited by
DS individuals.
Involvement of the phonological buffer in the
verbal STM deficit of children with DS can be
hypothesized on the basis of their difficulties in
auditory phonological analysis (Chapman, 1995;
359
Fowler, 1995). In fact, a more general relationship
between language development and phonological
memory is well-demonstrated in children with DS
(Laws and Gunn, 2003; Laws, 2004) as well as in TD
children (Gathercole and Baddeley, 1993). However,
a recent study by Vicari et al. (2004b) provided little
support for the hypothesis that defective functioning
of the Phonological Store component of the Articu-
latory Loop is responsible for poor verbal span in
individuals with DS. Indeed, these authors docu-
mented analogous susceptibility to phonological
similarity in a word span test in participants with DS
and TD controls.
So far, few data have indicated a malfunctioning
central executive as the origin of poor verbal STM in
individuals with DS. In a previous study, Vicari et al.
(1995) presented forward Digit and Spatial (Corsi’s
block) span tasks and backward Digit and Spatial
span tasks (in which the subject had to repeat the
numbers or reproduce the spatial sequence in the
reverse order) to groups of individuals with DS, with
MR of various etiology and to mental age-matched
TD children. Results showed a specific performance
decay in backward span tasks in individuals with DS
compared to both typically-developing children and
to persons with MR of various etiology, thus sug-
gesting that reduced resources of the executive system
are responsible for the particularly poor STM in
persons with DS.
In conclusion, compared to mental age-matched
TD children, individuals with DS show poor verbal
STM on span tasks. This deficit seems to be inde-
pendent of the articulatory difficulty they often
present. Instead, greater responsibility should be
attributed to a poorly functioning phonological buf-
fer or, even more, to deficits of the central executive
system.
There are very few data available on the func-
tioning of the visual–spatial sketchpad (the slave
system of the WM model devoted to the processing
of visual material) in children with mental retarda-
tion in general and with DS in particular. Wang
and Bellugi (1994) compared nine individuals with
DS and 10 with WS on digit and Corsi span and
found that those with WS performed better on the
verbal short-term memory task but, at the same
time, had lower scores on the visual–spatial short-
term memory task. Indirectly, this suggests a rela-
tive advantage for DS participants in visual–spatial
rather than in verbal span. Similar results were also
obtained by Jarrold et al. (1999) and by Laws
(2002).
360
Recently, Vicari et al. (2005) compared DS, WS
and typically developing children matched for mental
age in a visual and spatial span test. The two
tests involved studying the same complex, non-
verbalizable figures and using the same response
modality (pointing to targets on the screen). The
crucial experimental variable was that in one case the
position where the figure appeared on the screen had
to be recalled; in the other case, the physical aspect of
the figure studied had to be recalled. Results docu-
mented that people with DS showed reduced per-
formance in both tests. Instead, individuals with WS
exhibited specific difficulties in the visual–spatial, but
not the visual-object, working memory task. How-
ever, while the observed selective deficit in individuals
with WS persisted even when perceptual abilities were
taken into account, the deficits in individuals with DS
were compensated when their scores were adjusted
for perceptual levels. Indeed, after covarying for
performance level on the visual perceptual tasks,
performance of the DS participants and the TD
children no longer differed on the working memory
tasks. These results suggest that working memory is
not uniformly compromised in DS. Although this has
been well established for verbal material, it is far less
sure in the visual–spatial domain where impairment
in perceptual analysis rather than in memory pro-
cesses is likely responsible for DS individuals’ poor
performance.
Verbal and visual–spatial long-term memory has
been also extensively investigated in persons with
mental retardation, and particularly with DS, both in
the explicit and in the implicit component (Vicari and
Carlesimo, 2002). Explicit memory concerns inten-
tional recalling or recognition of experiences or
information. Implicit memory is manifested as a
facilitation (that is an improvement in performance)
in perceptual, cognitive and motor tasks, without any
conscious reference to previous experiences. Explicit
memory deficits in persons with MR and, particu-
larly, with DS have also been extensively docu-
mented. According to recent studies, due to this
diffuse impairment of mnesic abilities, persons with
MR should show a relative preservation of implicit
memory.
Carlesimo et al. (1997) described long-term
memory abilities in persons with DS and in others
with MR of unknown etiology, comparing them with
typically developing children of similar mental age.
The performance of the TD children in explicit
memory tests was significantly better than those of
children with MR of unknown etiology, and the latter
Stefano Vicari
were better than DS. On the other hand, the perfor-
mances of the three groups did not differ in an im-
plicit memory test (repetition priming); both groups
with MR performed as well as mental age matched
controls. These results confirmed a dissociation be-
tween explicit and implicit memory in people with
MR.
In the last few years, some experimental data has
been reported regarding the possible extension to
individuals with MR of the dissociation between ex-
plicit and implicit memory processes so frequently
described in brain damaged adults with memory
disorders. As for repetition priming, studies investi-
gating facilitation in identifying perceptually de-
graded pictures induced by the previous exposure to
the same pictures have consistently reported a com-
parable priming effect in individuals with MR and
TD children matched for chronological or mental age
(for a review, Vicari and Carlesimo, 2002). Instead, a
quite complex and somewhat contradictory pattern
of results emerged from studies investigating repeti-
tion priming for verbal material. Most of these
studies were based on the Stem Completion proce-
dure in which subjects are requested to complete a list
of stems (i.e., the first three letters) with the first word
that comes to mind. In this test, the priming effect is
revealed by a bias in completing the stems with words
that have been previously studied over unstudied
ones. Carlesimo et al. (1997) and Vicari et al. (2000a,
b, 2001) reported a priming effect with this procedure
in various groups of individuals with MR (etiologi-
cally unspecified, DS and WS) comparable to that of
mental-age matched TD children.
Less experimental works have been devoted to
investigate the ability to learn visuo-motor or cognitive
skills in individuals with MR and with DS in partic-
ular. Vicari and co-workers suggested an intriguing
difference in the skill learning abilities of DS and WS.
In the first study (Vicari et al., 2000b), a group
of individuals with DS showed the same rate of
improvement as a group of mental-age matched TD
children across successive trials of the Tower of
London test and in the comparison of the repeated
vs. random blocks of a facilitated version of the Serial
Reaction Time test (requiring implicit learning of the
sequential order of a series of visual events), devised
by Nissen and Bullemer (1987). Instead, in the second
study, a group of children with WS showed signifi-
cantly less procedural learning than TD children on
both of these tests (Vicari et al., 2001).
In summary, in comparison with TD control of
comparable mental age, persons with DS usually
Motor Development and Neuropsychological Patterns
exhibit peculiar memory patterns. In short-term
memory tasks, people with DS obtain lower perfor-
mance scores than TD children processing both
verbal and visual–spatial material. However, in the
visual–spatial domain impairment in perceptual
analysis rather than in memory processes is likely
responsible for DS individuals’ poor performance.
In long-term memory, people with DS exhibit
different patterns in explicit and implicit memory
domains. Albeit individuals with DS are usually
poorer than TD mental age control in verbal and
visual–spatial explicit memory tasks, in the implicit
memory domain comparable results may be observed
between the two groups in repetition priming tasks as
well as in procedural learning.
It is worthy to note that the memory profile
observed in DS is not shared with other genetic
syndromes also characterized by mental retardation.
We have, indeed, reported the case of William syn-
drome which is characterized by a relative strengths
in verbal an visual short-term memory but impair-
ments in spatial working memory. A similar pattern
is observed in explicit long-term memory domain,
while an impairment in the ability to learn implicitly
new procedures has been reported in adolescents with
WS.
NEUROBIOLOGICAL PERSPECTIVES
The cognitive profile we have described in people
with DS presumably results from some specific
characteristics of their anomalous brain development.
However, any attempt to identify which neuroana-
tomical structures are specifically involved in the
cognitive impairment displayed by people with DS is
speculative, and it must necessarily be based on
qualitative comparisons of their deficit with that
displayed by patients with acquired brain lesions. In
this regard, it is worth noting that autopsy observa-
tions in people with DS report a lower brain weight
with particularly small cerebellum, frontal and tem-
poral lobes (Wisniewski, 1990). Consistent with this,
volumetric MRI studies of individuals with DS have
documented reduced overall brain volumes, with
disproportionately smaller volumes in frontal, tem-
poral (including uncus, amygdala, hippocampus and
parahippocampal gyrus) and cerebellar regions (Pin-
ter et al., 2001). In contrast, brains of people with DS
usually show relatively preserved volume of subcor-
tical areas, such as lenticular nuclei (Bellugi et al.,
1999) as well as posterior (parietal and occipital)
cortical gray matter (Pinter et al., 2001).
361
The neuropsychological profiles we described in
DS might rely upon the difference within cortical and
subcortical structures here observed. For example, in
agreement with Fabbro et al. (2002), the lower per-
formances of DS in linguistic tasks may be partially
explained in terms of impairment of the frontocere-
bellar structures involved in articulation and verbal
working memory. Similarly, the reduced long-term
memory capacities may be related to the temporal
and, specifically, hippocampal dysfunction which
seems to be one of the more relevant characteristic of
people with DS (Pennington et al., 2003).
Several recent observations suggest as the dorsal
areas of the parietal cortex (besides the frontal ones)
are markedly involved in the mediation of spatial
processing; in contrast, the temporal ventral (and
perhaps frontal) areas intervene in working memory
for objects and faces and, more generally, in the
processing of visual material (Courtney et al., 1996;
Nelson et al., 2000). Therefore, persons with Down
syndrome could present a relatively preserved matu-
ration of the dorsal compared to the ventral com-
ponent of the visual system and thus perform
relatively better on visual-object than on visual–
spatial memory tests.
Finally, concerning implicit memory, both neu-
ropsychological (Molinari et al., 1997) and functional
neuroimaging (Van Der Graaf et al., 2004) data
assign a critical role to basal ganglia and cerebellum
in the implicit learning of visuo-motor skills. As
reported above, the brains of individuals with Down
syndrome exhibit severe cerebellar hypoplasia with
normal morphology of basal ganglia (Jernigan et al.,
1993).
Differently from the brain features reported in
DS, brains from individuals with WS usually exhibit
a remarkable atrophy of the posterior region of the
brain as well as of the basal ganglia (Jernigan et al.,
1993; Bellugi et al., 1999). Moreover, albeit cerebellar
volume is relatively preserved (Jernigan et al., 1993;
Bellugi et al., 1999) a neurochemical alteration
(reduction of the neurotransmitter N-acetylaspartate)
has been demonstrated in the cerebellum (Rae et al.,
1998).
A further characteristic of the WS brain, more
recently described, is a reduced volume in the pos-
terior regions of the corpus callosum (Tomaiuolo
et al., 2002). This hypoplasia of the corpus callosum
may determine a defective callosal transfer of infor-
mation, thus effecting an insufficient integration and
coordination of the activity of both cerebral hemi-
spheres. On the basis of all these observations, the
362
possible role played by the reduced posterior regions
of brain and corpus callosum in the visual–spatial
difficulties in individuals with WS is, although spec-
ulative, very suggestive. Thus, the more pronounced
difficulty in managing visual–spatial material re-
ported in individuals with Williams syndrome could
be related to a particularly delayed maturation of the
dorsal visual system.
Concerning visuo-motor skill learning, it may be
tentatively conclude that difficulties reported in peo-
ple with Williams syndrome are related to the defi-
cient maturation of striatal circuits known to be
critical for this ability.
Studies conducted in genetic syndromes describ-
ing their neuropsychological profiles in relationship
with specific brain characteristics are just at the
beginning. However, it looks a very fascinating topic
to better understand the biological nature of behavior
and to interpret the cognitive and linguistic differ-
ences usually observed among people with mental
retardation.
CONCLUSION
Down syndrome is characterized by a complex
neuropsychological profile with some abilities more
impaired than others. In particular, motor, language
and specifically morpho-syntax, verbal short-term
memory, explicit long-term memory are usually im-
paired and visual–spatial short-term memory and
implicit long-term memory are relatively preserved.
This cognitive pattern is sustained by a particular
brain development with a reduced volumes in frontal,
temporal and cerebellar regions and a relative pres-
ervation in subcortical areas, such as lenticular nuclei
as well as posterior (parietal and occipital) cortical
gray matter.
However, every theory of the neural substrates
of people with DS have to consider that neuropsy-
chological profiles change from infancy to adoles-
cence in this population. There are at least two
possible explanations. First, the neural differences
between the population may be established at birth,
but respond differentially to the various linguistic and
non-linguistic tasks that are used. This would occur
because developmental changes in task difficulty
require the recruitment of different neural systems
(e.g., different substrates are required for ‘‘easy’’
items passed by younger children and ‘‘hard’’ items
passed by older children). Second, behavior and brain
may change together dynamically across the course of
development, reflected in ‘‘catching up’’ in some
Stefano Vicari
domains, falling further behind in others, or flatten-
ing out at a developmental ceiling that children with
severe learning disabilities cannot surpass.
From a theoretical point of view, the results of
the experimental literature reviewed above are rele-
vant to students working in the fields of both normal
cognitive development and neuropsychological out-
come following cerebral damage. The former can
compare ‘‘normal’’ cognitive development with that
of people with DS in an attempt to dissociate distinct
functional components of the cognitive and linguistic
systems on the basis of discrepant developmental
trends. The latter can attempt to apply the same
theoretical and experimental approaches already used
in the investigation of neuropsychological disordered
adults to the deficits exhibited by people with DS to
gain new insights on the neural substrate and the
basic mechanisms of normal and pathological
cognitive development. From a practical point of
view, these data can provide invaluable information
for educational psychologists and teachers for plan-
ning rationally grounded interventions to alleviate
the learning difficulties and social maladjustment of
these individuals.
ACKNOWLEDGMENTS
The financial support of Telethon-Italy (Grant
No. E.C. 685), of CNR (Grant CNRC002D39_001
‘‘Clinical tools for the identification and the early
diagnosis of language disorders in infancy’’) and
FIRB/MIUR (Grant No. RBNE01SZB4) are grate-
fully acknowledged. I would like to thank Maria
Cristina Caselli, Virginia Volterra and Giovanni
Augusto Carlesimo. Their friendly and precious ef-
forts in cooperating in more than 15 years let possible
all the studies here reported.
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Edited by Pierre L. Roubertoux