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. DESIGN: 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.
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 PKUpatients in our metabolic unit. DESIGN: Retrospective study of the PKUpatients 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 PKUpatients.
Authors: Priscila Nicolao Mazzola; Vibeke Bruinenberg; Karen Anjema; Danique van Vliet; Carlos Severo Dutra-Filho; Francjan J van Spronsen; Eddy A van der Zee Journal: JIMD Rep Date: 2015-10-07
Authors: Deborah A Bilder; J Kay Noel; Erin R Baker; William Irish; Yinpu Chen; Markus J Merilainen; Suyash Prasad; Barbara J Winslow Journal: Dev Neuropsychol Date: 2016-11-02 Impact factor: 2.253