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Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria.
[classical phenylketonuria]
We
administered
measures
of
cognitive
,
frontal
lobe
(
executive
)
,
behavioral
and
motor
functioning
to
18
children
with
classical
phenylketonuria
,
aged
12
-
101
months
,
in
order
to
determine
the
relationship
of
age
,
current
and
lifetime
average
phenylalanine
levels
,
and
individual
variation
(
standard
deviation
of
lifetime
average
levels
)
to
these
functions
.
On
measures
of
cognitive
function
,
in
children
>
or
=
3
y
of
age
lower
current
phenylalanine
levels
were
associated
with
higher
cognitive
functioning
.
On
a
behavioral
temperament
scale
designed
for
normal
children
,
we
found
that
higher
current
and
average
phenylalanine
levels
correlated
with
more
difficult
temperament
.
Motor
function
was
also
poorer
in
children
with
phenylketonuria
,
and
was
most
impaired
in
children
with
current
phenylalanine
levels
>
360
micromol
/
l
.
We
also
identified
a
previously
unreported
correlation
between
increased
individual
variation
and
poorer
executive
function
performance
,
a
finding
that
may
raise
new
management
concerns
about
level
fluctuations
.
Maintenance
of
phenylalanine
levels
<
360
micromol
/
l
may
be
necessary
for
optimal
performance
in
children
with
phenylketonuria
.
Diseases
Validation
Diseases presenting
"higher cognitive functioning"
symptom
classical phenylketonuria
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