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Background: Phenylketonuria (PKU) is considered to be a rare inborn error of metabolism but one of the commonest causes of mental retardation if untreated.Objectives: The present study was done to characterize the clinical patterns of PKU and analyze various neuropsychiatric outcomes in PKU children in Sohag Province, Egypt.Patients and methods: A prospective cohort study was conducted on 113 PKU patients, diagnosed during the period from 2012 to 2017, at the Pediatric Neurology Clinic of Sohag University Hospital, Upper Egypt. One hundred and ten cases were diagnosed based on clinical suspicion combined with laboratory confirmation by measuring their plasma phenylalanine levels using amino acid analyzer, while 3 cases were detected during neonatal screening. With the exception of the 3 cases detected during neonatal screening, all patients were clinically diagnosed and treated late. Psychometric evaluations of PKU patients were done using intelligence quotient (IQ, Stanford–Binet V), Childhood Autism Rating Scale, and Children's Attention and Adjustment Survey. Dietetic management was applied. The results of neuroimaging (computed tomography or magnetic resonance imaging of the brain) and electroencephalography were included when available.Results: The overall results showed that 15.9% had hyperphenylalaninemia, 35.4% had mild to moderate PKU, and classic PKU was diagnosed in 48.7%. Global developmental delay (54.9%) and delayed language (29.2%) were the most frequent presentations. Moderately impaired or delayed overall IQ was present in 77%. While, 83.2% had moderately impaired or delayed verbal IQ, autism was diagnosed in 50.4%. Super average and average probability of attention-deficit hyperactivity disorder was diagnosed in 88.5%. Abnormal neuroimaging (white matter abnormalities and brain atrophy) was the most important significant predictor for poor language and motor developmental outcome (P<0.05).Conclusion: PKU children had variable neuropsychological outcomes, mainly attention-deficit hyperactivity disorder and impaired verbal IQ, both of which were not related to the initial phenylalanine levels or to duration of dietary therapy, but were significantly related to early dietary intervention. [ABSTRACT FROM AUTHOR]

Background: The exact pathogenesis of autism is still unknown. Both thyroid hormones and 25(OH)D are important for brain development, in addition to CD5; all have immunomodulatory actions by which their dysregulation may have a potential role in autism pathogenesis. Objectives: The objectives of this study were to assess the thyroid profile, serum 25(OH)D levels and CD5 expression levels among autistic patients and to find out the correlations between the measured biomarkers with each other on one side and with the disease severity on the other side. Patients and methods: This cross-sectional case-control study has been conducted on 60 children with autism and 40 controls, recruited from Qena Governorate, Upper Egypt. Childhood Autism Rating Scale (CARS) score was used to assess the included patients. Biochemical assays of thyroid function in the form of free triiodothyronine (FT3), free tetraiodothyronine (FT4), thyroid-stimulating hormone (TSH) and 25(OH)D were done using commercially available enzyme-linked immunosorbent assay (ELISA) kits, while CD5 expression levels were measured using flow cytometry (FCM) analysis for all the included patients and controls. Results: The overall measurement results show significant higher mean serum TSH levels, mean CD5 expression levels with significant lower mean serum 25(OH)D levels among autistic children when compared with the control group (p,0.05 for all). Significant negative correlations between CD5 with FT3, FT4 and 25(OH)D were observed. CARS score showed significant negative correlations with both FT3 and 25(OH)D, while it was positively correlated with CD5 in a significant manner (p,0.05 for all). Conclusion: Elevated CD5 expression and decreased 25(OH)D stores could play a potential role in the pathogenesis of autism via their immune-modulator actions. High TSH serum levels among autistic children, although within the physiological range, reflect the presence of thyroid dysfunction among such children, which needs further assessment. [ABSTRACT FROM AUTHOR]