Genetic disorders: Understanding behavioural phenotypes to inform classroom interventions

Some fun facts
Number of chromosomes an organism has does not equate to
level of intelligence
It takes about 8 hours for your cells to completely copy your
DNA
If the human genome were a book, it would be equivalent to 800
dictionaries
We share 98% of our genes with chimpanzees, 90%with mice,
21% with worms, and 7% with e.coli bacteria
Genetics for the non medical professional
We have 23 pairs of chromosomes, 22 are autosomes, 1 pair is
the sex chromosomes. Males are XY, females XX. Why is this
important?
Chromosomes are arranged from large to small
The Basics
Alteration in genetic material
Alteration is present at birth
May or may not be other members of the family affected
Sometimes genetic errors occur spontaneously in dominant or
recessive patterns of inheritance
Causes

Dysmorphic features
Organ abnormalities
Medical issues
Developmental disabilites
Characteristics of genetic disorders
Brain
Congenital heart disease
Kidney problems
Endocrine disorders
Eye/ear abnormalities
GI problems
Organ abnormalities
Respiratory issues
Growth issues
Seizure disorders
Feeding dysfunction
aspiration
Medical

Forehead
Eyes
Nose
Philtrum
Lips and mouth
chin
Dysmorphic features
Has to be ordered
Karotype
Genetic micro array
FISH test
Genetic counseling
Genetic testing
Intellectual disability
ASD
Behavior issues
Hypotonia
Vision and/or hearing impairments
Developmental Disabilities
When fertilization occurs

Cell reproduction
In one, mitosis, cells duplicate
In another process, called meiosis cells reduce (occurs on the
sex chromosome)
Most genetic errors occur during the cell reduction phase
Mitosis and Meiosis
Meiosis
Karotype/Genotype

Nondisjunction
Translocation
Mosaic
Deletions
Micro-deletions
Types of genetic errors
Trisomy
Translocation
Down syndrome
Fragile X syndrome
Prader Willi syndrome
Angelman syndrome
William syndrome
Sotos syndrome
Rett syndrome
CHARGE syndrome
Fetal alcohol syndrome
Common genetic syndromes

Sex chromosome errors
Dominant
recessive
Dominance patterns
It is not due to infections, trauma, emotional distress, lifestyle

habits, income level or what a mother did or did not do during
her pregnancy
It is estimated that all of us have anywhere between 6-8 genetic
defects that we carry
We do not have any control over how the genes separate and
divide at conception
Still- families feel guilty
What are not causes?
Functional outcomes are important
Although a child may need therapy, often does not need weekly
therapy, in fact, research shows that weekly therapy is not
beneficial for some of these children
Working on functional outcomes, functional goals in the
community setting is important
Intervention
Complicated process
Genetic abnormalities are classified by the chromosome number
they occur on
Children with a trisomy abnormality have more problems than a
child with a mosaic or deletion
A child with a genetic abnormality on a higher number
chromosome (21, 22) will have less difficulty than a child with
a 13 or 18 defect
Most fetuses are spontaneously miscarried that carry a genetic
defect.
Summary

Chromosome are like the individual pages of an encyclopedia,
genes are the words are on the pages, and DNA is the individual
letters of the words. When all these things are in the right
order, we consider that a normal person. And most of the time
things go right in such a complicated process
Summary
Behavioural phenotypes and special educational needs:
is aetiology important in the classroom?jir_1542 929..946
C. Reilly
School of Education, University College Dublin, Belfield,
Dublin 4, Ireland
Abstract
Background A number of genetic conditions with
associated intellectual disability and/or special edu-
cational needs have increasingly well-defined behav-
ioural phenotypes. Thus, the concept of ‘behavioural
phenotype’ and aetiology of intellectual disability
may be important with regard to school-based
interventions.

Method The evidence for distinctive cognitive and
behavioural aspects of five of the most common
genetic syndromes (Down syndrome, fragile X syn-
drome, Williams syndrome, Prader–Willi syndrome
and velo-cardio-facial syndrome) associated with
special educational needs is reviewed with respect
to key studies and findings. The possible utility of
aetiology-related interventions in education is dis-
cussed with reference to arguments for and against
such approaches with respect to published guide-
lines and published research.
Results Behavioural phenotypes are probabilistic
and many children with a specific genetic syndrome
will share commonalities with other children with
other genetic syndromes and within syndrome vari-
ability is not uncommon. There is evidence that
teachers and parents have limited knowledge of
aspects of the proposed cognitive and behaviour
profiles associated with the reviewed syndromes.
While there are published guidelines in the area of
learning and behaviour for each of the five reviewed
syndromes there is a limited amount of evidence of
the efficacy of such approaches in school settings.
Conclusion It is likely that knowing the aetiology of
a child’s special educational needs will be helpful
for staff who work in school settings in relation to
cognitive and behavioural implications. However,
how such knowledge might inform teaching practice
or behavioural interventions has not been studied. A
model is proposed that might help inform educators
about the possible role of aetiology in the
classroom.
Keywords behavioural phenotypes, Down
syndrome, fragile X, Prader–Willi syndrome, VCFS,

Williams syndrome
Introduction – aetiology and
behavioural phenotypes
There is increasing evidence which suggests that
there are distinctive cognitive and behavioural pro-
files in a number of genetic syndromes with associ-
ated intellectual disability (ID) (Dykens et al. 2000;
Rosner et al. 2004). While there is likely to be a
core set of deficits in neuropsychological function-
ing that is shared by all people with ID regardless
of cause, there are more specific patterns of abilities
Correspondence: Mr Colin Reilly, School of Education,
University
College Dublin, Belfield, Dublin 4, Ireland (e-mail:
[email protected]
ucdconnect.ie).
Journal of Intellectual Disability Research doi: 10.1111/j.1365-
2788.2012.01542.x
VOLUME 56 PART 10 pp 929–946 OCTOBER 2012
929
bs_bs_banner
© 2012 The Author. Journal of Intellectual Disability Research
© 2012 Blackwell Publishing Ltd
and deficits associated with known genetic syn-
dromes (Garner et al. 1999). Important in any dis-
cussion on the role of aetiology is the concept of a

‘behavioural phenotype’. While some definitions of
a ‘behavioural phenotype’ have emphasised ‘distinct
behavioural features occurring in almost every case
of the condition and rarely in other conditions’
(Flynt & Yule 1994, p. 666), others have emphasised
a heightened probability that a behaviour or cluster
of behaviours will be associated with a syndrome.
Dykens (1995) has defined a ‘behavioural pheno-
type’ as involving the ‘heightened probability or
likelihood that people with a given syndrome will
exhibit certain behavioural and developmental
sequelae relative to those without the syndrome’ (p.
523). This definition highlights the probable nature
of behavioural phenotypes in that not all individuals
with a specific genetic disorder will display particu-
lar aetiology-related behaviours (Fidler et al. 2002).
For the purposes of the article the concept of a
behavioural phenotype is understood in terms of
Dykens’s definition with the focus primarily
on cognitive and behavioural profiles likely to be
relevant for school aged children. Five genetic
syndromes associated with ID and/or special
educational needs are examined in this the article to
consider if aetiology of ID matters when consider-
ing educational interventions and approaches. The
five were chosen as they all have relatively well-
defined cognitive and behavioural profiles and all
have had guidelines published for intervention in
teaching and behavioural domains.
Work on behavioural phenotypes aims to link
together genes, brain and behaviour as well as to
refine treatment and intervention (Dykens 2000).
When considering treatment and intervention it
is thought that comparisons of children with one
genetic syndrome with children with another

genetic syndrome, or with children with ID without
a known aetiology, or with typically developing chil-
dren matched for mental or chronological age may
reveal specific aetiology-related strengths and diffi-
culties associated with each syndrome. It has been
proposed that such understanding is vital in select-
ing appropriate educational intervention strategies
for children with genetic syndromes (e.g. Campbell
et al. 2009). Children without genetic aetiologies for
their ID and associated special educational needs
may not show the same pattern of significant areas
of strengths or weaknesses in terms of development,
as children with a known genetic aetiology for their
ID across cognitive, behavioural and linguistic
domains (Dykens & Hodapp 2001).
However, adopting an approach whereby one
treats a syndrome group as largely homogeneous
with regard to treatment and intervention may have
significant drawbacks and may not concur with evi-
dence suggesting that within syndrome variation is
common. It has been noted that in some neurode-
velopmental disorders, within syndrome variability
is as great as or greater than between syndrome
variability (Levy & Ebstein 2009). Porter & Colth-
eart’s (2005) study of the performance of individu-
als with Williams syndrome on the subtests of the
Woodcock-Johnson Tests of Cognitive Ability –
Revised ( Woodcock & Johnson 1990), suggests that
as many as six different non-normative cognitive
profiles exist in Williams syndrome. A danger then
may exist if syndromes with known genetic causes
are treated as well-controlled homogenous study
groups that do not differ across cognitive and
linguistic domains. As well as within syndrome

variability there may also be cross-syndrome
similarities, and co-morbidities between a syndrome
with a known genetic cause and a syndrome
without a single known genetic cause. For example,
a child with fragile X syndrome may also meet the
diagnostic criteria for autism spectrum disorder
(ASD) (although diagnosis of ASD in genetic syn-
dromes associated with ID is not without chal-
lenges, see Moss & Howlin 2009). In this case, the
child is likely to share cognitive and behavioural
features with other children with fragile X syn-
drome and other children with ASD.
In the light of this discussion then it is worth
noting that there appears to be a need to recognise
that an individual with a syndrome with a known
aetiology may be likely to conform to the behav-
ioural phenotype proposed for that syndrome in
some domains, but also may differ from that pro-
posed behavioural phenotype in other domains. At
times the child may share more in common with a
child with another genetic syndrome or a child who
does not have a genetic aetiology for their difficul-
ties than they do with other children with the same
syndrome. In addition, there may be some children
who seem to closely ‘fit’ the proposed behavioural
phenotype associated with the syndrome while
930
Journal of Intellectual Disability Research VOLUME 56 PART
10 OCTOBER 2012
C. Reilly • Aetiology in the classroom

other children appear not to ‘fit’ as well with the
proposed phenotype. A child with Down syndrome
who meets the diagnostic criteria for ASD could be
seen as not fitting with the proposed phenotype
associated with Down syndrome which usually
involves assumptions of comparatively low levels of
behavioural difficulties and a sociable personality. In
the case of some aspects of a behavioural phenotype
associated with a genetic condition there appears to
be a very high probability that a child with the con-
dition will conform in some domains. For example,
almost all school aged children with Prader–Willi
syndrome will display an excessive interest in food.
In such a case where a particular behaviour is asso-
ciated with one syndrome and not usually with
others, the term ‘total specificity’ has been proposed
(Hodapp 1997). Where two or more syndromes
share a propensity for a particular behaviour the
behaviour shows ‘partial specificity’ (Hodapp 1997).
For example, on the Kaufman Assessment Battery
for Children (Kaufman & Kaufman 1983) boys
with fragile X syndrome show a relative strength in
simultaneous processing (Hodapp et al. 1992). This
relative strength may also be shared by children
with Prader–Willi syndrome (Dykens et al. 1992),
but not by the majority of children with Down syn-
drome (Pueschel et al. 1987), or children with ID of
unknown aetiology (Hodapp et al. 1992). Therefore,
when studying genetic syndromes and possible
aetiology-specific approaches there is a need to
understand that behavioural phenotypes associated
with those syndromes are probabilistic, and not
every individual with the syndrome will display the

pattern of behaviours associated with the syndrome.
Evidence for behavioural phenotypes
In this section, evidence for specific behavioural
phenotypes associated with five well-described
genetic syndromes, Down Syndrome, fragile X syn-
drome, Williams syndrome, Prader–Willi syndrome
and velo-cardio-facial syndrome (VCFS; also known
as 22q11.2 syndrome) will be summarised across a
number of domains which are relevant in classroom
settings. It is not possible to comprehensively review
all research findings across all domains for each
syndrome but the main findings for each syndrome
will be summarised with a particular emphasis on
findings that have been used with respect to pro-
posed educational interventions.
Examining evidence for distinctive cognitive and
behavioural profiles associated with the syndromes
is important because evidence of this nature is often
used when guidelines for intervention are devel-
oped. Those who advocate an aetiological approach
argue that it is the distinctive profiles of relative
cognitive and behavioural strengths and weaknesses
associated with syndromes which make aetiology
important with regard to programme planning.
Table 1 summarises characteristics associated with
the syndromes in global and specific aspects of cog-
nition, adaptive behaviour, symptoms of ASD and
attention deficit hyperactivity disorder (ADHD),
and maladaptive/problematic behaviour. Early
research on the syndromes tended to focus on mea-
sures of broad aspects of cognition such as global
scores on IQ tests and strengths and weakness on

subtests of commonly used IQ tests where more
recently there has been a trend towards more
detailed neuropsychological testing, which has
examined areas such as memory, attention and
social cognition. With the exception of a UK
population-based study focussing on Prader–Willi
syndrome (Holland et al. 2003) the studies carried
out on cognitive and behavioural aspects of the syn-
dromes have not been population based and as a
result findings may not be representative of the
entire population affected by the syndrome,
although an increasing number of studies have
included large samples and multisite studies. The
lack of population-based data may be particularly
problematic in syndromes such as VCFS where
those with a milder presentation may not have been
identified and thus not included in clinic-based
studies.
In relation to ASD it is difficult to compare rates
of ASD across syndromes because of differences in
how rates were ascertained and the instruments
used in studies. In Table 1 rates of ASD symptoms
across the syndromes are compared based on scores
on the Social Communication Questionnaire
(Rutter et al. 2003), or the earlier equivalent Autism
Screening Questionnaire (Berument et al. 1999).
The prevalence rates indicate the percentage of
individuals who meet the cut-off for ASD on the
Social Communication Questionnaire/Autism
Screening Questionnaire and do not indicate the
931
10 OCTOBER 2012

T
ab
le
1
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lo
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•
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m
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(r
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m
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e
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ti
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in
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it
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re
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•
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sh
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rt
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,
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in
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em
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26
932
10 OCTOBER 2012
A
da
pt

iv
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be
ha
vi
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ur
•
C
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ill
s3
7
•
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el
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st
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is
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n1
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g
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ill
s3
8
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m
pt
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o
f
SC
Q
/A
SQ
•
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39
•
69
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•
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40
•
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o
re
se
ar
ch
us
in
g
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41
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D
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43
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p
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rt
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yo
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io
n4
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be
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ta

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9
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re
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8
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5
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re
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9
9
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),
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6
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r
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(2
0
0
6
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7
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ig
re
n
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th
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0

5
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n
ts
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el
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(2
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d
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ik
la
ss
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n
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.
(2
0
0
9
),
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9
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sb
en
se
n
&
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el
tz
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0
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1
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0
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o
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en
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9
9
5
)
an
d
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se
r
&
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u
d
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r
(2

0
0
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1
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o
rd
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ro
et
al
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(2
0
1
1
),
5
2
L
ey
fe
r

et
al
.
(2
0
0
6
),
5
3
Jo
n
es
et
al
.
(2
0
0
0
),
5
4
B
lo

m
b
er
g
et
al
.
(2
0
0
6
),
5
5
F
ei
n
st
ei
n
et
al
.
(2

0
0
2
),
5
6
M
u
rp
h
y
et
al
.
(1
9
9
9
),
5
7
C
o
rn
is

h
et
al
.
(2
0
0
4
),
5
8
H
o
ll
an
d
et
al
.
(2
0
0
3
),
5

9
W
o
o
d
co
ck
et
al
.
(2
0
0
9
),
6
0
W
o
o
d
co
ck
et
al

.
(2
0
1
0
).
A
D
H
D
,
at
te
n
ti
o
n
d
efi
ci
t
h
yp
er
ac

ti
vi
ty
d
is
o
rd
er
;
A
D
A
S
Q
,
A
u
ti
sm
S
cr
ee
n
in
g

Q
u
es
ti
o
n
n
ai
re
(B
er
u
m
en
t
et
al
.
1
9
9
9
);
ID
,

in
te
ll
ec
tu
al
d
is
ab
il
it
y;
S
C
Q
,
S
o
ci
al
C
o
m
m
u

n
ic
at
io
n
Q
u
es
ti
o
n
n
ai
re
(R
u
tt
er
et
al
.
2
0
0

3
).
933
10 OCTOBER 2012
percentage of individuals who actually received a
clinical diagnosis of ASD. There have also been a
number of studies reporting the presence of signifi-
cant ADHD symptoms in each of the syndromes
and the main findings are summarised in Table 1. It
has been posited that the utility of an ADHD diag-
nosis in children with complex behavioural pheno-
types needs further evaluation (Zwaigenbaum et al.
2006), and the higher rate of the primarily inatten-
tive subtype in this population could point to both
a different manifestation of symptoms and underly-
ing pathophysiology in individuals with genetic
syndromes associated with ID.
Cognitive and behavioural interventions
Proposed classroom interventions
Having summarised some of the research evidence
for the existence of ‘behavioural phenotypes’ or
aetiology-specific profiles in five syndromes associ-
ated with ID it is now worth examining proposed

guidelines for intervention based on the outlined
behavioural phenotypes. Most of these guidelines
reflect early research focussing on analysis of cogni-
tive profiles via patterns of strengths and weak-
nesses on subtests of tests of cognitive functioning
and parental report of patterns of maladaptive or
problematic behaviours, as opposed to more recent
detailed observational studies of behaviour and
assessment of specific aspects of cognition. For all
of the syndromes there are now guidelines and in
some cases specific resources aimed at targeting
classroom learning and proposing particular teach-
ing approaches (e.g. Oelwein 1995; Braden 2002;
Dew-Hughes 2004; Horsteimer 2004; Chedd et al.
2006; Cutler-Landsman 2007; Udwin et al. 2007).
In relation to behaviour management there are also
guidelines that reflect the behavioural profiles asso-
ciated with syndromes (e.g. Hills-Epstein et al.
2002; Semel & Rosner 2003; Whitman & Jackson
2006). These guidelines are typically based on rec-
ommendations derived from the cognitive and
behavioural profiles of the syndromes and extensive
experience of working with children affected by the
syndromes and there are few empirical studies to
verify the validity of the recommendations. Some of
the guidelines are syndrome specific (e.g. in fragile
X syndrome sitting side-on as opposed to face-on
due to hyperarousal and resultant gaze aversion).
Other guidelines for practice are shared across two
or more genetic syndromes and might also be com-
monly used with children with conditions such as
ASD and ADHD (e.g. use of low distraction work
areas such as individual workstations for children
with fragile X syndrome, Williams syndrome, ASD
and ADHD). In this way the guidelines reflect

Hodapp’s (1997) notion of both ‘total specificity’
and ‘partial specificity’.
Some examples of the suggested recommenda-
tions are now outlined. The relative strengths in
visual-spatial domain and early gesturing have led
to suggestions that children with Down syndrome
may be particularly suitable for interventions such
as sign language (Hodapp et al. 1992) and visual
approaches to reading (Buckley 1995). Dykens &
Hodapp (1997) have suggested that children with
Williams syndrome may benefit from team or
buddy systems in school- and people-oriented jobs
based on their relative strength in language and
sociability. Teachers of children with fragile X syn-
drome and Prader–Willi syndrome could rely on
visual perceptual cues including pictures and
models whereas teachers of children with Williams
syndrome may not benefit as much from visual
approaches (Hodapp & Fidler 1999). It has been
posited that boys with fragile X syndrome will
struggle with phonics-based approaches to reading
(Braden 2002). However, young children with
VCFS have been noted to have a good ability to
decode words, and thus are more likely to benefit
from early phonics-based instruction (Cutler-
Landsman 2007), as are children with Williams
syndrome (Udwin et al. 2007). With regard to
therapeutic intervention it has been suggested that
‘group therapies’ may work well for persons with
Williams syndrome due to sociability and ‘people
orientation’ but not as well for children with fragile
X syndrome due to often displayed anxiety in social
environments (Hodapp & Dykens 2001). However,
children with fragile X syndrome may benefit from
indirect instruction in a group where peers are used

as teaching models and the child with fragile X is
not the focus of direct questioning which may be
anxiety provoking (Braden 2002). In terms of
behaviour management, Einfeld (2005) has argued
that factors contributing to behavioural issues may
arise from four causes and one of the four is the
934
10 OCTOBER 2012
specific aetiology of the child’s condition. In the
case of Prader–Willi syndrome, Einfeld (2005)
argues that traditional contingent reinforcement
strategies are likely to be less successful due to
hypothalamic dysfunction associated with the syn-
drome and that environmental or antecedent-based
approaches may be more successful. In a similar
vein in relation to Williams syndrome, Einfeld
(2005) argues that traditional behavioural
approaches may not be helpful when dealing with a
child’s avoidance or reluctance, but that a knowl-
edge of the high prevalence of fears and anxieties
associated with the syndrome might prompt a
medical referral and possible use of anti-anxiety
medication.
In relation to interventions for children with
genetic syndromes it has been proposed that where

possible proposed interventions should focus on a
child’s strengths (Hodapp & Dykens 2001; Hodapp
et al. 2003), as opposed to attempting to remediate
the child’s relative weaknesses. The majority of
syndrome-specific recommendations tend to focus
on a child’s strengths or compensate for their weak-
nesses as opposed to attempting to remediate or
ameliorate weaknesses. However, the view that the
‘playing to strengths’ is the most efficacious way to
approach educational instruction is not shared by
all in the wider educational community. Alferink &
Farmer-Dougan (2010) argue that teaching to a
specific strength in the absence of teaching to a
weakness may be a disservice to students and the
larger the child’s inventory of learning strategies,
the more likely the child is to learn across environ-
mental settings. In relation to fragile X syndrome
the commonly observed gaze aversion in boys has
led to recommendations that teachers and school
staff should not force eye contact but should
instead sit side-on as opposed to face on
(Scharfenaker et al. 2002). This would be an
example of playing to a child’s strengths or at least
not focussing on a child’s weakness. However, it has
been argued that with the use of behavioural tech-
niques, eye contact duration can be improved in
children with fragile X syndrome (Hall et al. 2009),
so in this case the intervention is focussing on ame-
liorating a syndrome-specific weakness. There is
evidence that aetiology-related strengths and weak-
nesses become more pronounced with age (Hodapp
2004). Whether this is related to the fact that chil-
dren gravitate towards activities that reinforce their
strengths or parents and teachers focus on this
strengths is not clear. If profiles become more pro-

nounced with age it may that early intensive inter-
vention is vital in order to address relative
weaknesses and that with older children, focussing
on strengths may be more appropriate.
Intervention studies
Despite the number of studies which have focussed
on describing the cognitive and behavioural aspects
of the syndromes under review, there have been few
intervention studies assessing the validity of specific
approaches in teaching skills to children affected by
the syndromes. The small number of studies that
have been carried out have focussed mainly on
reading (mostly in Down syndrome) and specific
behavioural difficulties and have been single-
participant designs or contained a relatively small
number of participants. A number of these studies
are now described.
Relative weaknesses in auditory short-term
memory have led to the view that children with
Down syndrome may struggle with phonics-based
approaches to reading instruction and that starting
with sight words may be more profitable (Oelwein
1995). Cologon et al. (2011) described how seven
children with Down syndrome benefited from
phonological awareness training over 10 weekly
sessions and post intervention showed improved
reading skills and phonological awareness. Goetz
et al. (2008) described how 15 children with
Down syndrome benefitted from a phonics-based
approach to reading over 8 weeks and improved
significantly compared to a waiting group of eight
children with Down syndrome. Neither of these
two studies included a comparison with sight

word approaches. However, Cupples & Iacono
(2002) described a study where seven children with
Down syndrome received training in either phono-
logical awareness (four children) or sight word
approaches to reading (three children). Reading of
non-training generalisation words improved signifi-
cantly in only three children, all of whom had
received phonics-based training (Cupples & Iacono
2002).
In fragile X syndrome a number of small-scale
intervention studies have been carried and are in
935
10 OCTOBER 2012
informative with regard to the possible usefulness
of approaches based on the syndrome’s proposed
behavioural phenotype. Hall et al. (2009) employed
a percentile reinforcement schedule with and
without overcorrection to shape eye-contact dura-
tion of six boys with the syndrome. Results showed
that eye contact, often thought to be aversive in
fragile X syndrome improved in four boys using
percentile schedules either alone or in combination
with overcorrection technique without concomitant
increases in social anxiety or behavioural problems.
Based on evidence that some children with fragile

X may benefit from teaching strategies that adopt a
simultaneous stimulus presentation, as opposed to a
sequential stimulus presentation Hall et al. (2006)
used a computerised matching to sample procedure
to teach mathematics and geography skills. Five
adolescents (four boys, one girl) with fragile X syn-
drome aged 12–19 years were taught these skills
using a self-paced computer program implemented
intensively with the children over 2 days. Results
indicated that four of the five children successfully
learned the mathematics trained relations and three
of the five children successfully learned the geogra-
phy trained relations. The authors concluded that
that computerised matching-to-sample procedures,
even when conducted in time-limited sessions, may
help individuals with fragile X syndrome learn new
skills although again no controls were used and
alternative teaching approaches were not assessed.
Based on a relative strength in auditory short-
term memory, it has been recommended that chil-
dren with Williams syndrome be taught to read
using phonics-based approaches (e.g. Levy &
Antebi 2004). Becerra et al. (2008) examined types
of reading instruction and performance in 44 indi-
viduals with Williams syndrome. Twenty-four indi-
viduals received instruction via phonics-based
approaches and 20 via sight word approaches. The
children’s reading standard scores were then com-
pared to those predicted based on their overall level
of cognitive functioning. Results indicated that most
children in the phonics group read at or above the
level expected for their level of cognitive function-
ing. In contrast, most children in the sight word
group read below the level expected for their level
of cognitive functioning. In Prader–Willi syndrome,

two case studies have been published of interven-
tions for reducing the occurrence of skin-picking a
common problematic behaviour in the syndrome.
Radstaake et al. (2011) reported on the successful
use of functional behavioural assessment and treat-
ment of skin picking in a 16-year-old female with
the syndrome. Stokes & Luiselli (2009) describe a
study where the skin picking of a 26-year-old male
with Prader–Willi was reduced by restricting the
individual’s access to the setting in which skin
picking most often occurred (i.e. bathroom), teach-
ing the individual novel forms of communication
(i.e. functional communication training), and pro-
viding reinforcement for behaviours other than skin
picking.
Behavioural phenotypes in the classroom
Is genetic aetiology important in the classroom?
Arguments exist for and against the importance
aetiology with regard to classroom interventions.
For those who argue that aetiology is important
(e.g. Hodapp & Fidler 1999; Hodapp & Dykens
2001; Hodapp et al. 2003), it is posited that knowl-
edge of aetiology may aid early identification of
syndrome-specific cognitive and behavioural profiles
thus enabling parents and professionals to target
strengths and needs with appropriate therapeutic
interventions and teaching strategies. By utilising
these syndrome-specific behavioural profiles, it is
proposed teachers can develop more targeted, ‘fine-
grained, and effective interventions’ (Dykens 1999;
Hodapp & Fidler 1999). Although genetic aetiology
may provide guidelines that will work in some but

not every case (Hodapp & Fidler 1999), an under-
standing of behavioural phenotypes can help special
educators foresee and avoid certain difficulties and
deal more effectively with others (Hodapp & Fidler
1999). It is also argued that in order to take full
advantage of genetic research, educators and clini-
cians require access to up-to-date and relevant
research findings on syndromes associated with ID
(Lee et al. 2005).
Others have expressed the view that aetiology is
not important in educational programming. Halla-
han & Kauffman (2000) argue that the focus of
educational programmes should vary according to
the degree of the student’s ID, and Blackhurst &
Berndine (1993) have expressed the view systems of
classification of based on aetiology are not valuable
936
10 OCTOBER 2012
in education. Abbeduto & Keller-Bell (2002)
described calls for curricula for individual syn-
dromes as reflecting ‘insularity’ and suggested the
importance of recognising that common problems
exist across syndromes. As well as questions about
the relevance of aetiology one reason for this
concern about aetiology-specific approaches may be

worries about the ‘balkanisation’ of special educa-
tion (Forness & Kavale 1994). Balkanisation refers
to the idea that all children with specific disorders
would need separate educational categories with
eligibility criteria and separate educational pro-
grammes and resources.
Despite increasing evidence of syndrome-specific
profiles and the prospect of aetiology-specific inter-
ventions there is as of yet, limited research evidence
of the efficacy of such aetiology-related approaches
in the classroom and few of the recommendations
have been systematically evaluated. It is not clear
how much knowledge about aetiology-related pro-
files is available in classrooms and if so how it is
used in terms of educational practices (Fidler et al.
2002). It has also been asserted that special educa-
tors have largely ignored calls to tailor interventions
to cognitive or behavioural profiles associated with
specific syndromes (Hodapp & Dykens 2009).
Making inferences from the clinic to the classroom
or other settings may not always be warranted. In
the case of classroom behaviours a study by Saun-
ders (1999) suggests that behaviour in the class-
room does reflect aspects of the behavioural
phenotype associated with a particular syndrome.
Teachers of children with fragile X syndrome
reported that boys with the syndrome did not like
activities involving large groups including dinner-
time and playtime and group activities such as story
time, circle time or class discussion (Saunders
1999), which could be seen to reflect ‘hyperarousal’
and related behaviours associated with the syn-
drome. In terms of favoured activities teachers
mentioned ‘play, cookery, computer, trips out and
stories’ which it could be argued link in to the rela-

tive strengths in daily living as identified on mea-
sures of adaptive functioning. Symons et al. (2001)
reported on the classroom engagement of 26 boys
with fragile X syndrome with a mean age of 7.5
years. Using classroom observations they reported
that the boys were engaged at a similar level to
peers although they indicated that their measure-
ment system may have been limited with regard to
measuring subtle aspects of classroom engagement.
They reported that the engagement of the boys was
significantly related to how the teacher had struc-
tured the classroom suggesting that ‘classroom
ecology was more important than biology’ (Symons
et al. 2001). These two pieces of research suggest
that while aetiology may indicate a child’s prefer-
ence for types of activities, getting the classroom
environment right for all children with ID regard-
less of aetiology should still be the key starting
point.
Incorporating aetiological knowledge in
the classroom
Because of the limited research evidence on the
manifestation of behavioural phenotypes in the
classroom it could be argued that there is not yet
enough evidence to advocate aetiology as an impor-
tant consideration in the classroom, and there is no
consensus regarding the role that this aetiology-
specific information should have in shaping inter-
vention and service delivery (Fidler et al. 2007). In
the absence of such evidence, how then should aeti-
ology be considered with respect to the teaching of
children with genetic syndromes associated with
ID? On the one hand, it would be difficult for most

teachers to have an in-depth knowledge of cognitive
and behavioural aspects of the syndromes discussed
in this review as well as the many other genetic syn-
dromes associated with ID. The fact that many
teachers will only teach a small number of children
with genetic syndromes throughout their career
would make comprehensive training an inefficient
allocation of resources. On the other hand, there
would appear to be key aspects of the cognitive
and behavioural profiles of some of the syndromes
described here that teachers need to know.
Knowing that hyperphagia is associated with
Prader–Willi syndrome, hyperarousal with fragile X
syndrome, and fears/phobias with Williams syn-
drome would appear vital in understanding an
affected child’s behaviour. In terms of cognitive
functioning, being aware of relative strengths in
simultaneous processing among children with
fragile X syndrome and Prader–Willi syndrome and
relative strengths in auditory processing among chil-
937
10 OCTOBER 2012
dren with Williams syndrome and VCFS would also
appear important in understanding the learning
strengths of these children. However, even if educa-
tors have a good awareness of a proposed behav-

ioural phenotype, there still exists a dilemma with
regards to whether an approach should focus on
teaching via strengths or should resources be used
to intensively targets weaknesses.
One difficulty with applying findings from
research on behavioural phenotypes in educational
settings is the lack of knowledge among health and
educational professionals of syndromes and associ-
ated cognitive and behavioural profiles. In a survey
by York et al. (1999), significantly fewer school staff
had knowledge of fragile X syndrome and the asso-
ciated cognitive and behavioural profile in compari-
son with Down syndrome. Even among staff who
had taught a child with fragile X syndrome specific
knowledge about recommended interventions and
approaches was limited (York et al. 1999). Lee et al.
(2005) looked at the awareness of special educators
and paediatricians of Down syndrome, fragile X
syndrome and VCFS. With regard to cognitive fea-
tures the highest knowledge among teachers was for
Down syndrome with the least knowledge for VCFS
and both teachers and paediatricians demonstrated
difficulties in identifying cognitive aspects of fragile
X and VCFS. In relation to behavioural aspects the
highest level of knowledge was for fragile X syn-
drome followed by Down syndrome and then
VCFS. In this study, the number of children that
the teachers had taught with each syndrome corre-
lated positively with their level of knowledge of the
cognitive and behavioural phenotype. In the case of
Prader–Willi syndrome and Williams syndrome,
parents tend not to know about cognitive aspects
associated with their child’s syndrome but may
know more about behavioural aspects (Fidler et al.
2002). Given that parents are often the sole provid-

ers about information about their child’s syndrome
(Fidler et al. 2002) it would appear that teachers
will have limited knowledge of aetiology-specific
profiles or interventions especially in the cognitive
domain. Teachers are likely to learn about syn-
dromes on a case-by-case basis through experiences
with individual children (Lee et al. 2005). There-
fore, an issue would appear to be, should prospec-
tive teacher education be offered and if so how best
to offer it? Forness & Kavale (1994) have suggested
that a middle ground may be possible where school
staff become aware of relevant features of a syn-
drome or disorder while still adhering to traditional
programmes. In this scenario firstly knowing that a
child’s syndrome may have an impact on their
learning and behavioural profile should be the start-
ing point. With regard to understanding how this
information might be imparted the pyramid in
Fig. 1 adapted from Braden & Riley (2006) and
Brown-Chidsey & Steege (2005) might be useful as
an aid to understanding how interventions might be
conceptualised.
The approach in Fig. 1 recognises that in many
cases the needs of children with special educational
needs can be met with interventions and
approaches that work with the majority of children.
However, there will be times that such universal
approaches do not best meet the needs of all stu-
dents and there may be groups of children with
similar needs. Some of these children may have
genetic syndromes, some may have well-defined
conditions without an identified genetic aetiology
(e.g. ASD, ADHD), and some may have an educa-
tional need but not have a diagnosed syndrome or

condition. For example, a number of children may
have significant ADHD type difficulties and will
need distraction-free work areas or use of individual
workstations. Such environmental accommodations
could be made for children with ADHD, ASD,
fragile X syndrome, and Williams syndrome and
may be made within the classroom or in a more
specialised setting. In terms of shared cognitive
profile the promotion of word recognition for chil-
dren with Prader–Willi and fragile X syndrome may
benefit significantly from approaches emphasising
simultaneous visual approaches. In some cases chil-
dren with specific syndromes may need very specific
guidelines based on aspects of their syndrome. Chil-
dren with Prader–Willi may need their educational
programme to contain clear guidelines around
access to food and need for regular physical exer-
cise. The final aspect of educational planning for
children with special educational needs and/or ID
should be a focus on the child’s own particular
interests and learning strengths and weaknesses,
and other relevant individual factors. These aspects
of the child’s profile may or may not be related to
the child’s hypothesised behavioural phenotype but
will be garnered by careful observations by school
938
10 OCTOBER 2012

staff and consultation with the child’s parents and
teachers.
In considering aetiology it is important that edu-
cators understand that within syndrome variability
is common and when considering specific aetiology-
related guidelines, these should be evaluated in the
same manner as other interventions. An overly rigid
application of syndrome-specific information could
lead to poor intervention planning with a risk that
intervention resources are wasted on difficulties that
a child does not actually demonstrate, despite a
child’s higher probability of demonstrating certain
difficulties as a function of their diagnosis (Fidler
et al. 2007). The approach outlined here recognises
that some educational needs are shared across syn-
dromes whereas some seem relatively unique and
while many teaching techniques are useful regard-
less of diagnosis this does not negate the need for
aetiology-specific information (Starr et al. 2006). A
consideration of genetic aetiology should not be at
the expense of neglecting environmental influences.
The influence of the child’s environment at home
and school including family, teacher and peer influ-
ences, is also likely to significantly impact on the
development of a behavioural phenotype. The
display of challenging behaviour may be influenced
by challenging environments including environ-
ments where there is a lack of stimulation, atten-
Universal strategies/interventions for children with special
educational needs
(e.g. curriculum adaptations for children with intellectual
disability, use of classroom

wide behaviour modification strategies )
Interventions for children with specific behaviour
associated with a syndrome (e.g. environment
that restricts access to food for children with
Prader−Willi syndrome)
Interventions for individual
children
(e.g. Individual
Behaviour/Education Plan
reflecting child’s interests)
Interventions for conditions with similar cognitive profiles (e.g.
use of visual
materials focussing on simultaneous strengths in fragile X
syndrome and
Prader−Willi syndrome )
Environmental accommodations for children with ADHD type
difficulties (e.g.
distraction free areas in classroom, individual workstations)
Individualised
Behaviour/Education
Plan
Shared
plan/resources for
children with
common difficulties

Class/Group
Plan
School adapts to
accommodate
child’s specific and
shared special
education needs
Syndrome-specific
approach
Figure 1 Planning school-based interventions for children with
intellectual disability and/or special educational needs (adapted
from
Braden & Riley 2006; Brown-Chidsey & Steege 2005).
939
10 OCTOBER 2012
tion, access to preferred objects/activities, or the
presence aversive stimuli (Langthorne et al. 2007).
In a study examining the function of challenging
behaviour Langthorne et al. (2011) reported that
children with fragile X are more likely to have an
escape-maintained function than attention-
maintained function for problem behaviour possibly
due to the hyperarousal and associated behaviours

common in the syndrome. Therefore, the impor-
tance of identifying the function of challenging
behaviour in the context of the child’s environment
and genetic aetiology is likely to make a significant
contribution to understanding what might help in
the classroom. Educators are likely to benefit from
a good knowledge of behavioural principles and the
use of functional behavioural assessment is likely to
be particularly important with regard to under-
standing the role of the environment and the role of
reinforcement in maintaining a problematic behav-
iour whether or not that behaviour is common in a
particular syndrome or not. Therefore, knowledge of
a behavioural phenotype should contribute to an
understanding of a problematic behaviour and
should complement knowledge of sound behav-
ioural principles and inform functional assessment
and subsequent behavioural intervention.
Summary and conclusion
There are now a good number of studies on the
cognitive and behavioural aspects of various genetic
syndromes associated with ID and/or special educa-
tion needs, and studies are becoming more sophisti-
cated with regard to design and more specific with
regard to aspects of functioning being assessed.
These studies suggest that there are distinctive
‘behavioural phenotypes’ associated with some syn-
dromes. However, the notion of a behavioural phe-
notype should not be taken to imply homogeneity
of profiles within syndromes and within-syndrome
variability is common. It is likely that many children
will ‘fit’ the proposed ‘behavioural phenotype’ for
the syndrome across a number of domains but on
occasions the they will not ‘fit’ the phenotype and

each child will have an individual phenotype which
may or may not conform to the group phenotype.
There is as of yet, limited evidence on aetiology-
related interventions or the usefulness of adopting
an ‘aetiological approach’ in the classroom, and the
issues surrounding the potential for developing
phenotype-specific intervention practices are
complex (Fidler et al. 2007). While it may be diffi-
cult to carry out studies on specific interventions
for children with specific syndromes, research on
the manifestation of proposed cognitive and behav-
ioural profiles in the classroom is important. It is
not clear how teachers who are well informed about
proposed cognitive and behavioural profiles of a
particular syndrome apply educational practices in
the classroom. It is therefore, important that
research is carried out with those who work in edu-
cational settings with children with genetic syn-
dromes, to ascertain their views on the most
efficacious practices. As well as research on how
elucidated cognitive and behavioural profiles are
manifest in school settings, there is a need for work
on how issues such as co-morbidity with conditions
such as ASD, affect educational practice for chil-
dren with genetic syndromes.
There is a particular need to examine whether
commonly used instructional methods (e.g.
phonics-based reading instruction) work in particu-
lar genetic syndromes and how such approaches
might compare with other instructional methods. In
this way, it may be possible to select approaches
that lead to faster rates of skill acquisition and help
decide whether to focus on capitalising on pheno-
typic strengths or whether to intensively target phe-

notypic weaknesses. Although intervention studies
in genetic syndromes are difficult to carry out, a
multiple baseline individual and small group studies
approach can start to answer questions about phe-
notypic approaches with relatively small number of
participants. In the absence of evidence-based
interventions school-based practitioners and educa-
tors will continue to base their intervention
approaches on prior clinical experience and profes-
sional judgement rather than on evidence-based
research. Much of the research in syndromes is
driven by those working in clinical- or university-
based research settings but there is also a need for
classroom-based research and this will require
strong links with those who work in educational
settings. Research outlining current practices and
teacher and parent views of their efficacy will be
useful and not as resource intensive as intervention
studies.
940
10 OCTOBER 2012
With regard to current classroom practice and
prospective training for educators the approach pre-
sented here may be helpful with regard to support-
ing educators understanding of when, and if,
aetiology might impact on a child’s learning or

behaviour. As Einfeld (2005) suggests educators
cannot be expected to be aware of the behavioural
phenotypes of all syndromes but being aware that
different aetiologies can impact learning and behav-
iour may allow teachers to seek out further advice
and support. The concept of behavioural pheno-
types implies probability, and a knowledge of inter-
ventions that are likely to work for the majority of
children with a syndrome should be considered
along with other sources of data (e.g. individual
assessment data), when formulating recommenda-
tions for educational and behavioural interventions.
In this way a ‘label’ can become ‘an enabler’
(O’Brien 2002), signposting educational profession-
als to interventions that are more likely to lead to
positive outcomes for the affected children. Knowl-
edge of a genetic syndrome can help anticipate
potential developmental vulnerabilities and resilien-
cies, and in this way phenotypic research may make
it possible to ‘know where to look’ for potential vul-
nerabilities in early development (Fidler et al. 2007)
and potential difficulties during the school years.
However, even for children with distinct genetic
aetiologies, aetiology is just one aspect of under-
standing a child’s needs which will reflect a range of
bio-psycho-social factors.
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Accepted 31 January 2012
946
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