HGPPS (horizontal gaze palsy with progressive scoliosis) presents in early childhood ages and one of the cardinal manifestations of the syndrome, progressive scoliosis, is the main disabling feature which usually seeks for orthopedic correction surgeries in early years. Nevertheless, the presence of scoliosis has not been explained yet by the pathogenesis of the disease, the ROBO3 mutation, which is a well-known pathology for gaze palsy by failure of axonal decussation toward the pontomedullary junction. This article highlights a novel case of HGPPS with prominent extrapyramidal findings including torticollis, cervical dystonia and facial spasm along with classic clinical, imaging and genetic correlation. Aiming to investigate the prevalence of extrapyramidal signs in this syndrome, the published cases of HGPPS in the literature have been reviewed in this study. 32% of all HGPPS cases between years of 1975 to 2020 founded to have one or more extrapyramidal features and the dystonia was the most reported sign which even proceed to the presence of scoliosis. Regarding to the fact that the scoliosis could be as a consequence of axial dystonia, its relationship to ROBO3 mutation can be explained by structural and functional changes toward the brainstem and cerebellum, which are involved in this syndrome and known to contribute with the extrapyramidal system. Knowing this possibility, not only could solve the 35-year mystery of scoliosis in the syndrome, but also would be considered as a target of treatment to prevent scoliosis in the future.
Introduction:The pilot has a continuous flow of various activities that require navigation, attention, and navigation working memory. Fighter pilots are more vulnerable to cognitive impairment due to positive gravitational acceleration. This point indicates the importance of their cognitive assessments. Objective: This study aimed to evaluate visual-spatial cognitive function and attention in the pilots of the Airforce of the Islamic Republic of Iran and compare these factors between fighter pilots and other aviation personnel. Materials and Methods: An analytic observational cross-sectional study was performed on 49 fighter pilots (group 1) and other aviation personnel (group 2). A list of demographic variables and flight histories was recorded. Then Addenbrooke's Cognitive Examination-Revised, Rey-Osterrieth complex figure test, Forward and Backward Digit Span (FDS and BDS), and Brief Visual-spatial Memory Test-Revised were token. Data were analyzed by SPSS 18 (P <0.05).Results: Both groups were homogeneous regarding age, sex, education, militarygrade, flight history, and complaints of cognitive symptoms. The scores of the tests were not statistically significant between the two groups. More than 10 years of flight history and equal or less than 10 years of flight history were respectively related to higher and lower scores in BDS and "recalling words". The scores of FDS were higher in those with equal or less than 400 hours of flight history. The scores of "delayed recalling" were higher in people with more than 400 hours of flight history and those with more than 40 hours of flight history in the last 6 months. Discussion and Conclusion:There was no difference in visual-spatial function and attention between fighter pilots and other aviation personnel, but flight history was related to the scores of some cognitive subtests.
Introduction: Epilepsy causes significant effects on child's physical and mental functions and is associated with different psychiatric disorders. The aim of this study was to compare the frequency of attention deficit hyperactivity disorder (ADHD) and quality of life (QOL) in children with epilepsy. Materials and Methods: This study was conducted on 90 children that divided to 3 groups: chronic epilepsy, recent epilepsy (with diagnosis of less than a month), and control groups. In the first stage, all patients were screened with a questionnaire containing demographic data, ADHD Rating Scale (ADHD-RS), Child-self report and Parent-proxy report as well as Pediatric Quality of Life Inventory TM (Peds QL™) forms. Then, the children were evaluated for definite diagnosis of ADHD according to DSM-IV criteria. Results: ADHD was diagnosed in 43.3%, 36.7% and 6.7% of chronic epilepsy, recent epilepsy, and control groups, respectively. There was a significant correlation between Parent-proxy report QOL score and the type of epilepsy. In analysis of QOL subgroups, the score of physical function and school performance were different in three groups. Children with ADHD had significantly lower total QOL score than non-ADHD children. Conclusion: The physical function, school performance, and total QOL score of chronic epileptic children are lower than recent epileptic and non-epileptic children. The ADHD is more common in epileptic children than normal children. Screening and early treatment of ADHD in epileptic children may improve their QOL.
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