Executive dysfunction in treated phenylketonuric patients

Objectives: Executive function deficits have been described in early and continuously treated patients with phenylketonuria (PKU). The aim of this study was to examine performance on executive function tasks of treated patients with PKU diagnosed by 2 years of age. Patients and methods: Ten patients with PKU and normal intelligence score who were diagnosed before the age of 2 years and subsequently treated continuously, were compared with 15 typically developing control children on a battery of neuropsychological tests, including the tower of London (TOL), continuous performance test (CPT), and Stroop test. Results: PKU cases showed significantly poorer performance on the TOL task compared to the control group with the difference being significant in the first three levels of the test. With the CPT, PKU cases had significantly more omission errors than control subjects. On the Stroop test there was no statistically significant difference between the groups. No significant correlation was found between the concurrent serum phenylalanine (Phe) level and results of the executive tests in PKU patients. Conclusion: This study identified executive dysfunction in early-treated PKU patients with normal IQ, particularly in the planning and attention domains. Further studies are required to compare the results with those from other neurodevelopmental disorders such as ADHD and autism, to establish whether the pattern of findings is specific to PKU

A Persian translation of the Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition: psychometric properties.

The aim of this study is to assess the reliability and validity of a Persian translation of the Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition Axis I Disorders (SCID-I) through a multicenter study in a clinical population in Iran

Structured Clinical Interview for DSM-IV (SCID Persian Translation and Cultural Adaptation):

"nObjective: To translate the Structured Clinical Interview for DSM-IV axisI "ndisorders (SCID-I) into Persian (Farsi) and to adapt this instrument for the "nIranian culture. "nMethod: The SCID was translated into Persian using an elaborate procedure to "nachieve a satisfactory cross-cultural equivalent. This included forward "ntranslation by bilingual (English/Persian) translators, discussion and revision of "nthe translation in an expert panel of bilingual mental health professionals, pilot "nassessment on a small sample of Persian-speaking patients, back-translation "ninto English and comparison with the original SCID. In addition, "nunderstandability and acceptability of the translated items were assessed in 299 "npatients in three psychiatric hospitals in Tehran, Iran. "nResults: Some adaptations were made to bring about cross-cultural "ncomparability, especially with regard to conceptual differences which led to "ndifficulties in transferring some psychiatric concepts from English to Persian. "nThe SCID questions were generally understandable and acceptable for the "nIranian patients. "nConclusion: The SCID was translated into Persian in a multi-stage process to "nensure a satisfactory cross-cultural equivalent

Brain and cord myelin water imaging: a progressive multiple sclerosis biomarker

Objectives: Conventional magnetic resonance imaging (MRI) is used to diagnose and monitor inflammatory disease in relapsing remitting (RR) multiple sclerosis (MS). In the less common primary progressive (PP) form of MS, in which focal inflammation is less evident, biomarkers are still needed to enable evaluation of novel therapies in clinical trials. Our objective was to characterize the association — across the brain and cervical spinal cord — between clinical disability measures in PPMS and two potential biomarkers (one for myelin, and one for atrophy, both resulting from the same imaging technique). Methods: Multi-component driven equilibrium single pulse observation of T1 and T2 (mcDESPOT) MRI of the brain and cervical spinal cord were obtained for 15 PPMS patients and 11 matched controls. Data were analysed to estimate the signal related to myelin water (VFM), as well as volume measurements. MS disability was assessed using the Multiple Sclerosis Functional Composite score, which includes measures of cognitive processing (Paced Auditory Serial Addition Test), manual dexterity (9-Hole Peg Test) and ambulatory function (Timed 25-Foot Walk); and the Expanded Disability Status Scale. Results: Brain and spinal cord volumes were different in PPMS compared to controls, particularly ventricular (+46%, p = 0.0006) and cervical spinal cord volume (−16%, p = 0.0001). Brain and spinal cord myelin (VFM) were also reduced in PPMS (brain: −11%, p = 0.01; spine: −19%, p = 0.000004). Cognitive processing correlated with brain ventricular volume (p = 0.009). Manual dexterity correlated with brain ventricular volume (p = 0.007), and both brain and spinal cord VFM (p = 0.01 and 0.06, respectively). Ambulation correlated with spinal cord volume (p = 0.04) and spinal cord VFM (p = 0.04). Interpretation: In this study we demonstrated that mcDESPOT can be used to measure myelin and atrophy in the brain and spinal cord. Results correlate well with clinical disability scores in PPMS representing cognitive, fine motor and ambulatory disability