Introduction. Mucopolysaccharidoses (MPSs) represent a group of rare lysosomal storage diseases, associated with the decline in  life expectancy and impairing  it’s quality. Despite prolonged evaluation of the effectiveness of pathogenic therapy, patient-reported outcomes are poorly defined. The aim of the study. To describe the impact of enzyme-replacement therapy (ERT) on the quality of life in MPS children, using parent-completed validated questionnaires.

Materials and methods. Parents of forty five MPSs children (27 — with neuronopathic disease, 18- with non-neuronopathic disease, 31 among them were treated with ERT) completed parent proxy-report of Pediatric Quality of Life Inventory™ (PedsQL™) 4.0 Generic Core Scales. Parents of seventeen children (10 — with neuronopathic disease), treated with ERT, completed PedsQL™ 4.0 Generic Core Scales twice, parents of 7 children with non-neuronopathic disease, treated with ERT, completed Childhood Health Assessment Questionnare (CHAQ) and visual analogue scale (VAS) of pain and overall health status, parents of 10 children with neuronopathic disease, treated with ERT, completed VAS of pain and overall health status twice. Cross-sectional and dynamic analyses have been undertaken. 

Results. Stabilization and lack of significant improvement of functional disability, quality of life and VAS scores of pain and overall health status have been demonstrated. In 57% of patients with non-neuronopathic disease, treated with ERT, mean score of «School Functioning» decreased, in 80% of patients with neuronopathic disease, treated with ERT, mean score of «Physical Functioning» decreased. In 50% of children with neuronopathic disease and in 57% of children with non-neuronopathic disease, mean score of «Emotional Functioning» improved. 

Conclusion. MPS children, treated with ERT, require additional psychological and educational help, as well as regular motor rehabilitation. 

Contribution: 
Osipova L.A. — concept, data collection, data processing and analysis, text writing, text editing;
Kuzenkova L.M. — concept, text editing; 
Chernikov V.V. — concept, data processing;
Podkletnova T.V. — text editing.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare participation in educational activities with the support of Takeda Pharmaceutical Company.

Received: April 04, 2022
Accepted:  May 12, 2022
Published: June 30, 2022

Psychometric studies are one of the priority tasks of child psychoneurology. It makes important to update the technologies for objective control of the mental sphere of children. Obtaining quantitative characteristics of indicators  of the mental activity in pediatric practice, is a convenient tool in assessing the level of development of a child’s cognitive and psychophysiological functions, both in normal conditions and in the presence of somatic and/or neurological diseases. The computer psychophysiological complex (CPPC) “Psychomat”, developed at the Research Institute of Medical Technology seems to be most widely used in children’s practice among a number of developed psychophysiological complexes. At present, an original software package created on the base of «Psychomat» allows receiving the results of the study in automatic mode (online), which is a convenient tool for mass testing in children’s institutions. The development of such software packages opens up new possibilities for psychometric research.

Contributions: 
Uvakina E.V. — concept and design of the research, collection and processing of materials, text writing;
Kuzenkova L.M. — concept and design of the research, collection and processing of materials, editing;
Fisenko A.P. — concept and design of the research, collection and processing of materials, editing;
Popovich S.G. — concept and design of the research, collection and processing of materials, text writing.
All co-authors are responsible for the  integrity of all parts of the manuscript and approval of its final version.

Acknowledgment: the study had no sponsorship. 

Conflict of interest: The authors declare no conflict of interest.

Received: April 19, 2022
Accepted:  May 25, 2022
Published: June 30, 2022

Chronic inflammatory demyelinating polyneuropathy (CIDP) in children  is a rare disease, the genesis of which is autoimmune disorders. In CIDP, autoimmune inflammatory processes are mediated by disorders of both the cellular and humoral links of the immune system. Manifestations of demyelination can be observed on any segment of the peripheral nerve from the spinal roots to its distal parts. Currently, there are typical CIDP and CIDP variants. The diagnosis of CIDP is based on the results of the analysis of the patient’s anamnesis, neurological examination and electromyography (EMG) data, which indicate typical signs of demyelinating peripheral nerve damage. Recognition of the clinical phenotype of CIDP variants is crucial, since the diagnostic process and differential diagnosis may differ when compared to typical CIDP. In accordance with the recommendations of the European Academy of Neurology and Peripheral Nerve Society in 2021, fulfillment or incomplete fulfillment with diagnostic clinical and EMG criteria allows making the diagnosis in two categories — “CIDP” and “possible CIDP”. Supportive criteria are used to verify the diagnosis of CIDP only in patients with a “possible” diagnosis. If two supportive criteria are met, then the diagnosis is changed, for example, to “Typical CIDP” or one of the CIDP variants. In pediatric practice, of the supportive criteria, an objective response to treatment with immunomodulatory agents with an objective assessment of clinical improvement and cerebrospinal fluid analysis to detect protein-cell dissociation are most often used. As an induction of pathogenetic treatment of the first line in CIDP children, it is preferable to use 10% intravenous immunoglobulins (IVIg) with an IgG content of more than 95%. The earliest possible use of first-line pathogenetic treatment makes it possible to achieve remission and stop the progression of the disease. The use of adequate supportive treatment using IVIg or subcutaneous immunoglobulins help to stabilize the child’s condition and prevent the formation of neurological deficits.

Contribution:
Kurenkov A.L. — concept and design of the study, writing the text, editing;
Bursagova B.I. — writing the text, editing;
Podkletnova B.I. — editing;
Abdullaeva L.M. — editing.
All co-authors are responsible for the  integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: April 11, 2022
Accepted: May 12, 2022
Published: June 30, 2022

Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency, glutaric acidemia type 1) (OMIM 231670) is an autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). Glutaryl-CoA dehydrogenase (GCDH) plays an important role in the degradation metabolism of L-lysine, L-hydroxylysine and L-tryptophan. The insufficiency or absence of the enzyme leads to the accumulation of by-products of degradation of such amino acids as glutaric acid, 3-hydroxyglutaric acid, glutarylcarnitine (C5DC-acylcarnitine) and glutaconic acid. The accumulation of glutaric acid and 3-OH-glutaric acid causes neurotoxicity. Glutaric aciduria type 1 can manifest itself in early childhood with encephalitis-like crises: from three months to three years as GA-1 with infantile onset or from the age of six years as the late onset of GA-1. It is characterized by progressive neurological motor disorders, with the appearance of various types of hyperkinesis in combination with spasticity, a high incidence of disability and mortality. In about 25% of cases, the disease has a subacute course and manifests over the first year of life with a delay in psychomotor development, the gradual development of hyperkinetic syndrome, and spasticity. Awareness of doctors and alertness regarding diseases from the group of hereditary metabolic diseases will help to carry out therapy in a timely manner both in the acute period and in the appointment of long-term therapy to prevent disability of patients.

Contribution:
Globa O.V. — concept, text writing, text editing;
Kuzenkova L.M. — concept, text editing;
Bushueva T.V. — concept, text editing;
Pushkov A.A. — concept, text editing;
Savost’yanov K.V. — concept, text editing;
Anikin A.V. — concept, text writing, text editing;
Zyryanova O.I. — concept, writing of the text;
Buksh A.A. — concept, text writing.
All co-authors are responsible for the  integrity of all parts of the manuscript and approval of its final version.

Conflict of interest. The authors declare no conflict of interest.

Acknowledgements. The study had no sponsorship.

Received: April 04, 2022
Accepted  May 12, 2022
Published: March 30, 2022

Duchenne muscular dystrophy (DMD) is a hereditary progressive muscular dystrophy with an X-linked recessive type of inheritance, mainly manifested in boys, characterized by an onset at an early age, rapidly progressive atrophy of the striated muscles of the limbs, trunk, and  damage of cardiac muscle. This process leads to a gradual loss of motor skills, cardiovascular and respiratory complications, deterioration of the musculoskeletal system, which, ultimately, significantly worsens the patient’s quality of life and reduces its duration. Currently, there are new drugs for the pathogenetic therapy of DMD. Their effectiveness is maximum with early initiation of therapy in the outpatient stage of the disease. Therefore, the age of diagnosis and the ability to suspect pathology in its early stages has become especially relevant in recent years.
One of the new treatments for DMD is ataluren therapy. This therapy refers to pathogenetic and similar affects a number of patients with a nonsense mutation in the DMD gene. The combination of ataluren and glucocorticosteroids can increase the duration of the outpatient period and stabilize the state of respiratory and cardiac functions. The article presents a clinical example of a three-year follow-up of a patient suffering from DMD due to a nonsense mutation in the DMD gene, receiving combination therapy with glucocorticosteroids and ataluren.

Contributions:
Podkletnova T.V. — concept, text writing, text editing;
Uvakina E.V. — concept, text writing, text editing;
Popovich S.G. — concept, text writing, text editing;
Lyalina A.A. — concept, text writing, text editing;
Kuzenkova L.M. — сoncept; text editing.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: April 14, 2021
Accepted:  May 12, 2022
Published: June 30, 2022