title: Neurological complications and behavioral problems in patients with phenylketonuria in a follow-up unit.
abstract: OBJECTIVE
  To investigate the relationship between neurological complications, neuroradiological findings, and behavioral problems, age at diagnosis and dietary control along the follow-up of the PKU patients in our metabolic unit.
  
  
  METHODS
  Retrospective study of the PKU patients diagnosed and controlled in our unit from 1985 to 2010.
  
  
  METHODS
  Registry of patients in a database with 50 items filled in by review of the clinical histories. Statistical study of the data (SPSS, 19.0 version).
  
  
  RESULTS
  121 patients were included (median age: 16.0, range 1 month-46 years). 76% of them were diagnosed through neonatal screening. 12.4% had mild-PKU, 19% moderate-PKU and 68.6% classic-PKU. 88.4% of patients were treated with a protein-restricted diet, and 11.6% with BH4. 97.7% of the early diagnosed patients had normal IQ, while 46.3% of late diagnosed patients had mental retardation, 28.5% were borderline and 25% had normal IQ. In early diagnosed patients, there was a significantly negative correlation between IQ [mean (SD) 100 (11.1)] and the index of dietary control during the first six years of life [median (range) 310 (105-992)] and that of the immediately past year [348 (106-1127)] (p < 0.0001). The proportion of patients with late diagnosis and neurological and behavioral problems was significantly higher than that of the early diagnosed ones (p < 0.001). The proportion of early diagnosed patients with neurological and behavioral problems who had good, intermediate or poor dietary control during the first 6 years of life and the immediately past year was significantly different (p < 0.001).
  
  
  CONCLUSIONS
  The results show the impact of early diagnosis and good dietary treatment on the IQ and on the percentage of neurological complications and behavioral problems in PKU patients.
authors.affiliation: Neuropediatrics Department, Hospital Universitari Sant Joan de Déu, Barcelona, Spain.
authors.forename: María J
authors.initials: MJ
authors.lastname: González
authors.forename: Alfonso P
authors.initials: AP
authors.lastname: Gutiérrez
authors.forename: Rosa
authors.initials: R
authors.lastname: Gassió
authors.forename: María E
authors.initials: ME
authors.lastname: Fusté
authors.forename: María A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: Jaume
authors.initials: J
authors.lastname: Campistol
mesh_terms: D000293:Adolescent; D000328:Adult; D000375:Aging / Q000473:pathology; D001519:Behavior; D002648:Child; D002675:Child, Preschool; D003071:Cognition; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007361:Intelligence Tests; D008297:Male; D009154:Mutation / Q000235:genetics; D009422:Nervous System Diseases / Q000150:complications* / Q000000981:diagnostic imaging; D010651:Phenylalanine Hydroxylase / Q000235:genetics; D010661:Phenylketonurias / Q000145:classification / Q000150:complications* / Q000178:diet therapy / Q000201:enzymology; D011859:Radiography; D012574:Schools; D055815:Young Adult
chemical_list: D010651:Phenylalanine Hydroxylase