Genoa Syndrome and Central Diabetes Insipidus: A Case Report

Genoa syndrome was first described by Camera et al in 1993 in two patients with semilobar holoprosencephaly (HPE), craniosynostosis and abnormal small hands with cone−shaped epiphyses and hypoplastic terminal phalanges of fingers (OMIM: 601370). In 2001, Lapunzina et al reported a case of craniosynostosis and HPE associated with several other malformations and suggested that these findings could be attributed to a severe form of Genoa syndrome or to a newly recognized syndrome. Endocrinopathies in association with HPE are frequently reported in the literature. Diabetes insipidus, hypothyroidism, hypocortisolism, and growth hormone deficiency are frequently associated with HPE. We here report a case of semilobar HPE, craniosynostosis and cleft lip/palate, possibly a case of Genoa syndrome, associated with central diabetes insipidus

Motor functions, quality of life and maternal anxiety and depression in children with cerebral palsy of different intelligence levels

Background. Cerebral palsy (CP) is the most common motor disability in childhood. In addition to motor impairment, it is frequently accompanied by intellectual disability (ID). We aimed to investigate the associations between motor functions, quality of life (QoL) and maternal psychopathology in children with CP of different intelligence levels. Methods. In total, 37 children and adolescents (16 females and 21 males) between 4 and 18 years of age diagnosed with CP were recruited from a Pediatric Neurology Outpatient Clinic. Gross Motor Function Classification System (GMFCS) and Bimanual Fine Motor Function (BFMF) were used for the children's motor functions assessment. Quality of life was determined by the caregivers with Pediatric Quality Of Life Inventory-Parent version (PedsQL-P). Maternal anxiety and depression levels were assessed using Beck Anxiety Inventory (BAI) and Beck Depression Inventory (BDI). Results. Moderate-severe ID (n=19)(13.5%, 37.8%) and normal IQ-mild ID (n=18) (32.4 %,16.2%) groups were evaluated in this study. GMFCS level 2 was more frequent in both groups. The majority of the severe-moderate ID group was at BFMF level 4, while the normal IQ-mild ID group was at BFMF level 2. PedsQL-P scores of children with CP, maternal BAI scores, and maternal BDI scores did not differ between the two groups (p>0.05). Psychosocial PedsQL scores had a moderate negative correlation with the maternal BAI scores (r=-0.41, p<0.05). There was also a moderate positive correlations between the ages of children and maternal BDI scores (r=0.34, p<0.05). Conclusions. Our results demonstrated that maternal anxiety was correlated with psychosocial QoL in children with CP. Maternal depression scores increasing with the ages of the children with CP may also indicate the social support needs for mothers with children of chronic diseases. Further studies may reveal the associations with other biopsychosocial factors in children with CP of different intelligence levels by using longitudinal study designs with larger sample sizes

A sydenham chorea attack associated with COVID-19 infection

The coronavirus disease 2019 (COVID-19) caused by SARS-CoV-2 appeared in Wuhan, China in December 2019 and quickly spread around the world and is considered a global pandemic. This disease, which is pre-infected with respiratory and cardiovascular system symptoms, can also occur in many organ systems. Since the beginning of the pandemic, cases related to neurological involvement have been reported in the literature and studies coercing neurological findings and complications have been published. COVID-19 can cause wide spectrum of neurological phenotypes from severe to milder. To the best of our knowledge, our case is the first report describing the chorea in a patient associated with COVİD-19. In this article, we aim to present a patient who was admitted with chorea on the 3rd day of the COVID-19 followed by Sydenham chorea, which had already improved. This report expands the phenotypic spectrum of COVID-19 and suggests that COVID-19 can be associated with or trigger chorea

sj-docx-1-cat-10.1177_10760296241231944 - Supplemental material for Investigating the Impact on Long-Term Outcomes and the Necessity of Hereditary Thrombophilia Screening in Presumed or Perinatal Arterial Ischemic Stroke

Supplemental material, sj-docx-1-cat-10.1177_10760296241231944 for Investigating the Impact on Long-Term Outcomes and the Necessity of Hereditary Thrombophilia Screening in Presumed or Perinatal Arterial Ischemic Stroke by Ömer Bektaş, MD, Özben Akinci GÖktaş, MD, Begüm Atasay, MD, and Serap Teber, MD in Clinical and Applied Thrombosis/Hemostasis</p

Effects of levetiracetam and valproic acid treatment on liver function tests, plasma free carnitine and lipid peroxidation in childhood epilepsies

Background and aims: The relationship between anti-epileptic usage and oxidative damage has not yet been clearly understood. In our study, we investigated oxidative stress parameters, carnitine levels, liver function tests (LFT) and their relationship in epileptic children treated with valproic acid or levetiracetam. Method. LFTs, serum free carnitine and oxidative damage markers and their relations with each other were determined in patients who are on valproic acid or levetiracetam treatment at least for 6 months. 25 patients on therapeutic doses of valproic acid, 26 patients on therapeutic doses of levetiracetam and 26 healthy volunteers as controls were included. LFTs, ammonia, carnitine, lipid peroxidation biomarker malondialdehyde (MDA) and a sensitive marker of DNA damage, 8-hydroxy-2-deoxyguanosine (8-OHdG) levels were measured. Results of patients are compared to healthy controls. The data is evaluated with IBM SPSS Statistics 22.0. Results: Ammonia and MDA levels were elevated in patients using levetiracetam; 8-OHdG levels were elevated in both patient groups. Carnitine levels were significantly low in patients under valproic acid therapy, however they were not found to be correlated with MDA, 8-OHdG or LFTs. MDA showed positive correlation with ammonia and 8-OHdG in the levetiracetam group. Conclusion: We did not observe hepatotoxicity in patients under therapeutic doses of valproic acid. However, epileptic children under therapeutic doses of levetiracetam showed significantly elevated levels of MDA and 8-OHdG, which is supportive for oxidative damage under levetiracetam therapy. This result was observed for the first time in childhood epilepsies and further studies are needed to understand its mechanism

A mobile app that uses neurofeedback and multi-sensory learning methods improves reading abilities in dyslexia: a pilot study

Reading comprehension is difficult to improve for children with dyslexia because of the continuing demands of orthographic decoding in combination with limited working memory capacity. Children with dyslexia get special education that improves spelling, phonemic and vocabulary awareness, however the latest research indicated that special education does not improve reading comprehension. With the aim of improving reading comprehension, reading speed and all other reading abilities of children with dyslexia, Auto Train Brain that is a novel mobile app using neurofeedback and multi-sensory learning methods was developed. With a clinical study, we wanted to demonstrate the effectiveness of Auto Train Brain on reading abilities. We compared the cognitive improvements obtained with Auto Train Brain with the improvements obtained with special dyslexia training. Auto Train Brain was applied to 16 children with dyslexia 60 times for 30 minutes. The control group consisted of 14 children with dyslexia who did not have remedial training with Auto Train Brain, but who did continue special education. The TILLS test was applied to both the experimental and the control group at the beginning of the experiment and after a 6-month duration from the first TILLS test. Comparison of the pre- and post- TILLS test results indicated that applying neurofeedback and multi-sensory learning method improved reading comprehension of the experimental group more than that of the control group statistically significantly. Both Auto Train Brain and special education improved phonemic awareness and nonword spelling

Changes in EEG complexity with neurofeedback and multi-sensory learning in children with dyslexia: a multiscale entropy analysis

Multiscale entropy analysis (MSE) is a novel entropy-based approach for measuring dynamical complexity in physiological systems over a range of temporal scales. MSE has been successfully applied in the literature when measuring autism traits, Alzheimer's, and schizophrenia. However, until now, there has been no research on MSE applied to children with dyslexia. In this study, we have applied MSE analysis to the EEG data of an experimental group consisting of children with dyslexia as well as a control group consisting of typically developing children and compared the results. The experimental group comprised 16 participants with dyslexia who visited Ankara University Medical Faculty Child Neurology Department, and the control group comprised 20 age-matched typically developing children with no reading or writing problems. MSE was calculated for one continuous 60-s epoch for each experimental and control group's EEG session data. The experimental group showed significantly lower complexity at the lowest temporal scale and the medium temporal scales than the typically developing group. Moreover, the experimental group received 60 neurofeedback and multi-sensory learning sessions, each lasting 30 min, with Auto Train Brain. Post-treatment, the experimental group's lower complexity increased to the typically developing group's levels at lower and medium temporal scales in all channels