Digital Devices and Cognitive Functions in Children

The other contributors confirmed the absence of a reportable conflict of interests The influence of dynamically changing habits associated with the use of digital devices (DD) on the child’s brain is one of the most topical issues of the last decade. Ambiguous or contradictory data on this issue indicate the need of systematizing all the results of scientific research. This analysis shows negative effect of large amount of screen time on the development of children at early age, their academic performance, and attention at older ages due to media absenteeism, as well as the correlation between the use of digital devices with delayed reward. It is necessary to update and to conduct qualitative research to understand the issue in more comprehensive way.

Short-Term Safety and Efficacy of Onasemnogene Abeparvovec in 10 Patients with Spinal Muscular Atrophy: Cohort Study

Background. The efficacy and safety of onasemnogene abeparvovec have been demonstrated in patients with spinal muscular atrophy (SMA) in several clinical and observational studies. Gene replacement therapy results in Russian patients with SMA is not investigated yet.Objective. The aim of the study is to study the safety and efficacy of onasemnogene abeparvovec in children with SMA in real clinical practice.Methods. The study included patients with proximal 5q SMA administered with onasemnogene abeparvovec. Diagnosis was verified by biallelic deletion in the 7th exon of the SMN1 gene. Gene replacement therapy was administered according to the decision of neurologists consensus in case of the absence of antibodies to the adeno-associated serotype 9 virus. The therapy safety was estimated via clinical and laboratory data from the hospital (at least 7 days) and from outpatient departments (at least 60 days). Efficacy was estimated via CHOP INTEND scale and mastering new motor skills ≥ 6 months after therapy onset.Results. Treatment outcomes were studied in 10 SMA patients aged 19 months (15; 21). All patients developed at least one clinical manifestation (hyperthermia, vomiting, lethargy and/or loose stool) associated with drug administration during the first week of follow-up. Increased hepatic transaminases activity and monocytosis was recorded in all patients, thrombocytopenia — in 9, neutropenia — in 5, increased troponin I concentration — in 3. In three cases it was necessary to increase the oral prednisolone dose of to 2 mg/kg, in one case — the dexamethasone pulse therapy dose. The therapy efficacy was monitored ≥ 6 months after therapy onset via the CHOP INTEND scale in 2 patients (scores increased by 32 and 19 points, respectively), and via mastering new motor skills in 8 patients (positive dynamics was noted in 7 cases).Conclusion. The onasemnogene abeparvovec is relatively safe and quite effective for using in real clinical practice

Articular Syndrome Characteristics in Children with Mucopolysaccharidosis Type I

Background. Mucopolysaccharidosis type I is disease from the group of lysosomal storage disease developing due to mutations in the IDUA gene. It leads to the accumulation of glycosaminoglycans (GAGs) in organs and tissues. Joints damage in this disease is systemic and progressive.Objective. The aim of the study. Nowadays, relevant issue is to investigate the effects of various types of pathogenetic therapy on the state of the osteoarticular system in patients with severe and mild phenotypes of MPS I to prevent further progression of joint pathology.Methods. The study included 46 patients diagnosed with “mucopolysaccharidosis type I”. 35 children had severe phenotype (Hurler syndrome) and 11 — with mild phenotypes (Hurler-Scheie and Scheie syndromes). The onset age of clinical manifestations in osteoarticular system, the state of large and small joints, and the presence of cervical stenosis according to the therapy were evaluated in these patients.Results. The osteoarticular system pathology can be usually revealed in all patients with MPS I, in both mild and severe phenotypes. The contractures of shoulder, ulnar, wrist, and small hand joints have been revealed in most patients with Hurler syndrome, regardless of the administered therapy. Hip joints pathology was observed in children who was administered with: enzyme replacement therapy (ERT) — in 46.7% of cases, hematopoietic stem cell transplantation (HSCT) in combination with ERT — in 34.4% of cases. Patients with Hurler syndrome administered with HSCT in combination with ERT had cervical stenosis statistically significantly more rarely (p = 0.018) compared to patients treated with ERT only. Patients with Hurler syndrome who were on ERT had statistically significantly lower growth rates than patients after HSCT in combination with ERT. Lesions in ulnar, wrist, knee and small hand joints were the most common in children with mild phenotypes (in 90% of cases).Conclusion. Combined therapy (HSCT and ERT) in patients with Hurler syndrome reduces severe manifestations in osteoarticular system.

Modern Breastfeeding Options for Preterm Children in Neonatal Hospital

The literature overview on the issue of breastfeeding in neonatal departments, including neonatal intensive care units, is presented. The importance of breastfeeding for newborns with perinatal pathology is justified, as breast milk is vital for these children due to its unique sanogenetic properties. Data on special preventive and therapeutic role of breastfeeding for premature infants is presented. Reasons that complicate the use of breast milk in neonatal hospitals were analyzed (including those related to insufficient bacteriological and virological safety of native breast milk due to methodological errors during its collection and usage). Particular attention was paid to ensuring the breastfeeding safety during new coronavirus infection pandemic. This difficult period has demonstrated and confirmed the expediency of combining two breastfeeding approaches in perinatal centers: use of maternal milk and use of donor breast milk. Another section of review is devoted to modern breast milk processing technologies. Use of electric clinical breast pumps is crucial for promoting and supporting breastfeeding in the perinatal center.

Results of Malnutrition Correction in Children with Cystic Fibrosis with Hypercaloric Formulas for Enteral Nutrition for One Month: Cohort Study

Background. The use of hypercaloric formulas in cystic fibrosis patients has the risks of negative effects on carbohydrate and lipid metabolism. Thus, it is interesting to analyze the efficacy of malnutrition correction and the safety of hypercaloric enteral products with a low glycemic index and with medium-chain triglycerides content of 50%.Objective. The aim of the study is analyze the efficacy of malnutrition correction with therapeutic hypercaloric product for enteral nutrition in children with cystic fibrosis.Methods. The study included patients aged from 3 to 18 years with malnutrition (BMI < 50 percentile) who were prescribed therapeutic hypercaloric formula to correct the malnutrition. Anthropometric indicators (height, body weight), actual nutritional status, pancreatin doses, lung function, carbohydrate metabolism rates, and cholestasis marker (bile acid concentration) were measured initially and after 1 month of using formula nutrition.Results. The children’ body weight (Me) has increased from 24.5 (21.2; 38.7) to 25.3 kg (21.6; 39.7) (p = 0.001), growth (Me) — from 133.5 (120.2; 146.5) to 136.5 cm (123.0; 148.5) (p < 0.001) after 1 month of using hypercaloric formula. The growth percentile increased from 33 to 40, the z-criterion values — from –0.5 to –0.3 SD (p < 0.001). There was no increase in BMI in dynamics due to the fact that the growth of children was ahead of body weight increase. The daily energy intake increased by an average of 450 kcal that was 21.8% regarding physiological need.Conclusion. The inclusion of hypercaloric formula in the diet of children with cystic fibrosis for 1 month significantly increases the indicators of linear growth and positively affects the overall physical development. There were no negative effect of formula on carbohydrate and lipid metabolism.

The Role of Adequate Nutrition on Early Stages of Child Development. New Aspects of Goat Milk-Based Infant Formulas Implementation

The early stages of child development are characterized by various processes of maturation such as brain growth and development. The digestive and immune systems are developing as well at the same time. The intestinal microbiota plays significant role in the development of all organs and systems. Various disorders of microbial colonization of digestive system can negatively affect food programming processes. Nutrition type (breastfeeding or artificial) also has its own noticeable effect on early development. Breastfeeding is the “gold standard” in children’s nutrition. Modern approaches on creation of adapted formulas based on goat’s milk allow to develop its optimal composition (protein fraction for easy digestion, -palmitate, oligosaccharides, and natural nucleotides) that has positive effect on the child’s development.

Special Medical Food in Premature Child with Postnatal Malnutrition: Clinical Case

Background. Protein-calorie deficiency is common multifactorial medical condition in infants. Nutrition therapy of protein-calorie deficiency in premature infants with special medical food is not always quite effective. It can be associated with residual manifestations of overlapping perinatal pathology.Clinical case description. Extremely premature child with severe protein-calorie deficiency in the late period with combined perinatal pathology (perinatal central nervous system damage and bronchopulmonary dysplasia) was administrated with therapeutic highly nutritious (high-protein/high-energy) milk formula according to individual plan. The positive dynamics in clinical manifestations of the main and associated diseases was noted on nutrition therapy.Conclusion. High-calorie and protein-enriched therapeutic formula can effectively correct protein-calorie deficiency in premature infants with associated perinatal pathology in the recovery period (disfunction compensation).

Spinal Muscular Atrophy 5q under the Mask of Myopathy: 10 Clinical Cases

Background. Spinal muscular atrophy 5q (5q SMA) is the most frequent autosomal recessive hereditary neuromuscular disease. Molecular genetic testing is used for SMA diagnosis, and it can confirm only 5q SMA. The clinical findings and results of paraclinical studies may overlap with hereditary primary-muscular diseases making the diagnosis difficult and delaying the administration of pathogenetic treatment for 5q SMA.Clinical case description. Clinical description of 10 patients with 5q SMA aged from 3 months to 25 years with different severity of proximal tetraparesis, skeletal muscular atrophy and tendon reflexes depression is given. 3 patients under 2 years of age with myogenic pattern at needle electromyography (nEMG) in lateral vastus muscle and 7 patients over 2 years of age with increased levels of creatine phosphokinase (CPK) in blood serum were mistakenly diagnosed for inherited primary-muscular diseases for the period from 1 month to 12 years. After the genetic counselling based on the disease course and clinical findings we suspected and later confirmed 5q SMA.Conclusion. In case of flaccid proximal tetraparesis associated with myogenic pattern at nEMG in young children or with increased CPK levels at late manifestation it is crucial to perform differential diagnosis of 5q SMA since there are options of pathogenetic therapy.

Xeroderma Pigmentosum: Clinical and Genetic Features and Therapeutic Approaches

Xeroderma pigmentosum is rare genetic disorder characterized by increased skin sensitivity to damaging ultraviolet (UV) light. First symptoms manifest at early age in most cases (up to 75%). Chronic damage due to sun exposure is common, it has different stages of changes and risk of further development of malignant tumors that depends on the gene involved. Additionally to skin manifestations there are various neurological disorders such as progressive cognitive dysfunctions, sensorineural hearing loss, ataxia, pyramid and extrapyramidal disorders, areflexia. Treatment of patients with xeroderma pigmentosum is mostly symptomatic and preventive (protection against UV). Nowadays targeted medications for DNA repair and increasing cells resistance to UV light, thus preventing the oncological diseases, are under development.

Clinical Efficacy and Safety of Ivacaftor/Lumacaftor Combination in Patients with Cystic Fibrosis: International Studies Review

Cystic fibrosis is an autosomal recessive disease caused by structure abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It is characterized by severe course and poor prognosis without or with insufficient treatment. Approval of pathogenetic therapy medications, CFTR modulators (potentiators and correctors), for clinical use in 2012 in the United States has reduced mortality from this disease. This article provides the overview of studies on clinical efficacy and safety of ivacaftor/lumacaftor combination (Iva/Lum) — the first licensed CFTR modulator medication for homozygous patients with F508del variant. It was shown that Iva/Lum increases lung function, reduce the number of acute conditions of bronchopulmonary process (including those that require antibiotics and hospitalization), partially restores pancreas exocrine function, increases body weight and mass growth index, and improves quality of life. It allows considering it as favorable effect on the course and prognosis of cystic fibrosis. It was also noted that the early onset of the drug administration (from the age of two) positively affects the prognosis of the disease, increasing life expectancy and improving quality of life.