title: Intellectual and Developmental Status in Children With Hyperphenylalaninemia and PKU Who Were Screened in a National Program.
abstract: BACKGROUND
  Hyperphenylalaninemia (HPA) and Phenylkeonuria (PKU) are metabolic errors caused by deficiency of phenylalanine hydroxylase enzyme, which results in increased level of phenylalanine. This increase is toxic to the growing brain.
  
  
  OBJECTIVE
  The purpose of this study was to compare the intellectual and developmental status in HPA and PKU children with normal population in national screening program.
  
  
  METHODS
  In a historical cohort study, 41 PKU patients who had the inclusion criteria and 41 healthy children were evaluated. Wechsler preschool and primary scale of intelligence-3rd edition (WPPI-3) was used in order to assess the intellectual status of children 4 years and older and Ages and stages questionnaire (ASQ) was used to assess the developmental status of children 5 years and younger.
  
  
  RESULTS
  In intellectual test comparison, the two groups showed significant difference in Wechsler's performance intelligence score and some performance subscales (P-value < 0.01). In comparison of developmental status, no significant difference was observed between the two groups (P-value > 0.05).
  
  
  CONCLUSIONS
  Even with early diagnosis and treatment of PKU patients, these children show some deficiencies intellectually compared to normal children. This study emphasizes on necessity for screening intellectual and developmental status of PKU patients so that effective medical or educational measures can taken in case of deficiencies.
authors.affiliation: Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, IR Iran.
authors.forename: Parisa
authors.initials: P
authors.lastname: Aghasi
authors.affiliation: Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, IR Iran ; Department of Pediatrics, Tehran University of Medical Sciences, Tehran, IR Iran.
authors.forename: Arya
authors.initials: A
authors.lastname: Setoodeh
authors.affiliation: Center for Academic and Health Policy, Tehran University of Medical Sciences, Tehran, IR Iran.
authors.forename: Azadeh
authors.initials: A
authors.lastname: Sayarifard
authors.affiliation: Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, IR Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Rashidiyan
authors.affiliation: Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, IR Iran ; Department of Pediatrics, Tehran University of Medical Sciences, Tehran, IR Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Sayarifard
authors.affiliation: Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, IR Iran ; Department of Pediatrics, Tehran University of Medical Sciences, Tehran, IR Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Rabbani
authors.affiliation: Psychiatry Department, Roozbeh Psychiatric Hospital, Tehran University of Medical Sciences, Tehran, IR Iran.
authors.forename: Javad
authors.initials: J
authors.lastname: Mahmoudi-Gharaei
keywords: Development; Hyperphenylalaninemia; Intelligence; PKU