The highly conserved Elongator complex is a translational regulator that plays a critical role in neurodevelopment, neurological diseases, and brain tumors. Numerous clinically relevant variants have been reported in the catalytic Elp123 subcomplex, while no missense mutations in the accessory subcomplex Elp456 have been described. Here, we identify ELP4 and ELP6 variants in patients with developmental delay, epilepsy, intellectual disability, and motor dysfunction. We determine the structures of human and murine Elp456 subcomplexes and locate the mutated residues. We show that patient‐derived mutations in Elp456 affect the tRNA modification activity of Elongator in vitro as well as in human and murine cells. Modeling the pathogenic variants in mice recapitulates the clinical features of the patients and reveals neuropathology that differs from the one caused by previously characterized Elp123 mutations. Our study demonstrates a direct correlation between Elp4 and Elp6 mutations, reduced Elongator activity, and neurological defects. Foremost, our data indicate previously unrecognized differences of the Elp123 and Elp456 subcomplexes for individual tRNA species, in different cell types and in different key steps during the neurodevelopment of higher organisms.

The practical value of using fibre-enriched enteral feeding regimens to rehabilitate malnourished children remains inconclusive. This study determined the usage patterns, gastrointestinal tolerance, anthropometrics and safety of high-fibre enteral feeding in malnourished children with growth failure. This Turkish observational study between February 2013-June 2015 comprised 345 paediatric patients from 17 centres with malnutrition related growth failure, with a weight and height of less than two standard deviation percentiles for their age. Changes in anthropometrics, gastrointestinal symptoms, defecation habits and safety data relating to adverse events were analysed during the six-month follow-up period. Most subjects (99.7%) were supplemented with enteral feeding.. The absolute difference and 95% confidence interval values for the Z-scores of height for age, weight for age, weight for height and body mass index for height increased significantly in 4-6 months to 0.21 (0.09-0.32), 0.61 (0.51-0.70), 0.81 (0.56-1.06) and 0.70 (0.53-0.86), respectively (p<0.001 for each). The percentage of patients with normal defecation frequency significantly increased from 70.3% to 92.8% at the 4-6 month visit (p=0.004). Adverse events occurred in 15 (4.3%) of patients. Using a six-month high-fibre enteral feeding was associated with favourable outcomes in anthropometrics, appetite, gastrointestinal tolerance and safety in malnourished children.

Objective: The aim of this study was to compare sociodemographic characteristics, quality of life, and levels of depression and anxiety of children with epilepsy and their families with a healthy control group. Materials and Methods: In this study, 60 epileptic children and their families were included. The data of these patients were compared with 51 healthy children and their families. The Children’s Depression Inventory, Beck Depression and Anxiety Scale, State-Trait Anxiety Inventory for Children, KINDL General quality of life scale, KINDL-epilepsy module, and short form-36 were used to determine the depression, anxiety, and quality of life levels of children and parents. Results: Depression and anxiety scale scores of the epilepsy group were statistically higher than the control group (P < .05). In the epilepsy group, the emotional well-being dimension on the KINDL parent scale and the total health, emotional well-being, family, and friends dimensions on the KINDL child scale were statistically lower than the healthy control group (P < .05). Short form-36 scores of the parents of the epilepsy group were statistically lower than the parents of the control group (P < .05). As the KINDL epilepsy quality of life dimension scores increased, the scores of the parental short form-36 quality of life scale scores increased. KINDL parental total scores were statistically lower in those with comorbidities than those without comorbidities. Conclusion: Monitoring for psychiatric comorbidities and quality of life status for both the child and the parents is recommended. Also, it should be emphasized that it would be more beneficial to use self-answered scales when assessing the quality of life of epileptic children. Cite this article as: Ünalp A, Kutlu A, Karaoğlu P, Yılmaz Ü, Çakaloz B. Evaluation of quality of life and psychiatric aspects of children with epilepsy and their families using self-assessment questionnaires. Turk Arch Pediatr. 2022;57(3):282-289.

Background Although it is a valuable option for children with drug-resistant epilepsy, ketogenic diet (KD) therapy is associated with several side effects. The frequency of kidney stones and risk factors for their development in epileptic children receiving KD is unclear. The aim of this study was to determine the frequency and risk factors for the development of renal stones in children receiving KD therapy. Methods A total of 95 patients receiving KD were identified. Of these, seven patients were excluded from the study due to the duration of KD being less than 12 months. The remaining 88 children were enrolled in the study. Results Renal stones were detected in 15 patients (17%), of which 12 (73.3%) received potassium citrate treatment. Two (13.3%) patients needed lithotripsy despite receiving potassium citrate treatment, and one of these, who received potassium citrate treatment for 5 months, developed acute vesicourethral reflux and underwent surgery. No patient discontinued KD due to renal stone development. The serum uric acid concentrations and urine calcium/creatinine ratio did not change significantly over the 24-month follow-up period. Age, gender, etiology, age at seizure onset, duration of KD, mobility status, use of topiramate or zonisamide, and the number of antiepileptic drugs used were not significantly different between patients with and without kidney stones. Conclusion Renal stone appears to be a common adverse effect of KD therapy. Although adequate hydration and potassium citrate treatment are effective in most patients, lithotripsy and surgery may be required in a minority of patients.