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Neuropsychological outcome of subjects participating in the PKU adult collaborative study: a preliminary review.
[classical phenylketonuria]
Adult
subjects
with
classical
phenylketonuria
(
PKU
)
who
were
diagnosed
and
treated
neonatally
participated
in
this
long
-term
follow-up
study
.
Twenty
-
four
subjects
received
neuropsychological
(
NP
)
assessment
and
a
subset
received
magnetic
resonance
imaging
(
MRI
)
and
magnetic
resonance
spectroscopy
(
MRS
)
to
identify
:
(
1
)
pattern
of
cognitive
dysfunction
;
(
2
)
effect
of
high
blood
phenylalanine
(
Phe
)
level
at
time
of
cognitive
testing
;
and
(
3
)
treatment
variables
that
may
be
associated
with
cognitive
difficulties
in
adulthood
.
All
subjects
had
average
IQ
except
one
subject
in
the
borderline
range
.
Diet
was
initiated
by
the
15
th
day
of
life
.
All
subjects
except
one
were
on
diet
until
age
6
years
(
mean
years
of
treatment
=
15
)
.
Blood
Phe
levels
at
cognitive
testing
ranged
from
157
to
1713
micromol
/
L
(
mean
=
1038
)
;
11
subjects
had
levels
<
1000
micromol
/
L
and
13
subjects
had
levels
>
1000
micromol
/
L
.
Results
suggest
that
adults
with
early
-treated
PKU
demonstrate
specific
cognitive
deficits
,
a
number
of
which
are
associated
with
the
frontal
and
temporal
area
of
the
brain
.
Deficits
were
noted
in
several
domains
including
executive
functioning
,
attention
,
verbal
memory
,
expressive
naming
and
verbal
fluency
.
Self-report
measures
of
depression
and
anxiety
were
generally
in
the
normal
/
mild
range
.
The
group
with
a
Phe
level
>
1000
micromol
/
L
scored
lower
than
the
group
with
Phe
level
<
1000
micromol
/
L
on
measures
of
focused
attention
,
verbal
fluency
,
reaction
time
,
verbal
recognition
memory
,
visual
memory
and
naming
.
Tests
of
cognitive
functioning
were
often
correlated
with
measures
of
treatment
during
childhood
rather
than
with
Phe
level
at
the
time
of
cognitive
testing
.
Subjects
with
abnormal
MRI
scored
significantly
lower
on
two
cognitive
tests
(
Trails
A
and
CVLT
Recognition
Memory
)
.
We
found
no
significant
correlation
between
current
brain
Phe
level
obtained
through
MRS
(
n
=
10
)
and
neuropsychological
functioning
.
Future
longitudinal
investigation
with
a
larger
sample
size
will
assist
in
clarifying
the
aetiology
of
neuropsychological
deficits
and
association
with
treatment
history
.
