FACULDADE DE ODONTOLOGIA DE BAURU

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FACULDADE DE ODONTOLOGIA DE BAURU UNIVERSIDADE DE
SÃO PAULO DEPARTAMENTO DE FONOAUDIOLOGIA
EARLY TREATMENT OF PHENYLKETONURIA AND
DEVELOPMENTAL ABILITIES
SLP Silva, Greyce Kelly Phd Lamônica, Dionísia
Cusin
BRAZIL
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INTRODUCTION
The phenylketonuria (PKU) is considered to be a
recessive metabolic disorder resulting from the
mutation of a gene located in chromosome
12q22-24.1
(Brandalize, Czeresnia 2004)
It is caused by the absence or inactivity of
phenylalanine hydroxylase (PHA) in the liver. It
is one of the causes of mental retardation which
can be prevented with treatment
(Lee et al, 2005, Sullivan, Chang 1999)
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INTRODUCTION
PHENYLALANINE
Toxic effect to the Central Nervous System
Intellectual deficit
Attention deficit
Hyperactivity
Learning disabilities
Convulsion and autism behavior
Global development delay
(Stahl, Pry, 2005, Monteiro, Cândido, 2006)
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AIM
Describe developmental abilities focusing upon
the abilities of communication in children with
early diagnosis and treatment
Describe the correlation of the phe serum levels
in the abilities of language, personal-social,
fine motor-adaptive and gross motor
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MATERIALS AND METHOD
The study was submitted and approved by the
Committee of Ethics in Research FOB/USP-Bauru,
Brazil, protocol 116/2007
DEVELOPMENT OF THE STUDY
Partnership with one of the six centers of
neonatal screening in São Paulo state - Brazil
Application of approximately 5,000 tests per month
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MATERIALS AND METHOD
INCLUSION CRITERIA
PKU GROUP
Classical PKU, being treated and attended for
classical in neonatal screening program,
presenting no other genetic or neurological
proven alterations
CONTROL GROUP
Children equaled in relation to age, sex,
social condition and school instruction
20 children from 3 to 6 years and 11 months
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MATERIALS AND METHOD
ASSESSMENT
Screening Test Development Denver II
(Frankenburg et al., 1992)
Gesell Developmental Scales (Gesell e Amatruda
2000)
Peabody Picture Vocabulary Test (Dunn et al.,
1986)
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MATERIALS AND METHOD
STATISTIC ANALYSIS
Statistic analysis was applied by means
of the Mann Whitney Test Spearman
Correlation
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RESULTS
DENVER-II
TABLE 1 - Percentages for Attention (A), Refuses
(R) and Delay and p Value
(Mann Whitney) of the PKU and Control groups
Performance of the Groups Denver II PKU
CONTROL
p VALUE A R Delay
A R Delay PS 40 0 60
10 0 0 0,00 FMA
50 0 10 20 0
0 0,05 LggA 70 0 40
10 0 0 0,00 GM
10 0 0 10 0
0 0,97
PS Personal-social FMA Fine
motor-adaptative LggA Language area GM
Gross motor Statistically significant
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RESULTS
GESELL
TABLE 2 - Percentages for Adequacy (Ad), Lowered
(Low) and High and p Value (Mann Whitney) of the
PKU and Control groups
Performance of the Groups GESELL PKU
CONTROL
p VALUE Ad Low Hight
Ad Low High PS 10 90 0
90 0 10 0,00
Adap 30 70 0 90
0 10 0,00 Lgg 0 100
0 90 0 10
0,00 MG 100 0 0
80 0 20 0,48 DM
60 40 0 80 0
20 0,05
PS Personal-social Adap Adaptive Lgg
Language GM Gross motor DM Delicate
motor Statistically significant
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RESULTS
Peabody
TABLE 3- Classification of Peabody in percentages
and p Value, (Mann Whitney) of PKU and Control
groups.
Statistically significant
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DISCUSSION
ABILITIES X PHE
Children with PKU showed risk for delay in
learning and language development
Early diagnosis and treatment showed
personal-social, language and fine
motor alteration
(Monteiro, Cândido, 2006 Stermerdink et al,
2000)
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DISCUSSION
PHE X ABILITIES
Dietary treatment and follow up couldnt keep the
levels of Phe within the established limits of
normality
Probability of alterations in the Central Nervous
System, even in early treated children
(Lamônica, Ferraz 2007 Huijbregts et al 2002)
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CONCLUSION
Early diagnosis and treatment
personal-social language fine-motor adaptive
Alteration
It is inferred that the difficulty in the
maintenance of the levels of the Phe serum may
have brought influences in the personal-social,
language and fine motor-adaptative areas,
compromising communicative abilities
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