EARLY TREATMENT OF PHENYLKETONURIA AND DEVELOPMENTAL ABILITIES

Transcription

1 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

2 INTRODUCTION The phenylketonuria (PKU) is considered to be a recessive metabolic disorder resulting from the mutation of a gene located in chromosome 12q (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)

3 INTRODUCTION PHENYLALANINE Toxic effect to the Central Nervous System Hyperactivity Learning disabilities Attention deficit Intellectual deficit Convulsion and autism behavior Global development delay (Stahl, Pry, 2005, Monteiro, Cândido, 2006)

4 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, personalsocial, fine motor-adaptive and gross motor

5 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

6 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

7 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)

8 MATERIALS AND METHOD STATISTIC ANALYSIS Statistic analysis was applied by means of the Mann Whitney Test Spearman Correlation

9 RESULTS Performance of the Groups Denver II PKU CONTROL p VALUE A R Delay A R Delay DENVER-II TABLE 1 - Percentages for Attention (A), Refuses (R) and Delay and p Value (Mann Whitney) of the PKU and Control groups 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

10 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

11 RESULTS Peabody TABLE 3- Classification of Peabody in percentages and p Value, (Mann Whitney) of PKU and Control groups. Classification PKU (%) Control (%) Low 60% 0% Medium 40% 20% High 0% 80% p Value 0,00* *Statistically significant

12 DISCUSSION ABILITIES X PHE Early diagnosis and treatment showed personal-social, language and fine motor alteration Children with PKU showed risk for delay in learning and language development (Monteiro, Cândido, 2006 ;Stermerdink et al, 2000)

13 DISCUSSION PHE X ABILITIES Dietary treatment and follow up couldn t 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)

14 CONCLUSION Early diagnosis and treatment Alteration personal-social language fine-motor adaptive 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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