Introduction. Currently, Russia does not have a scientifically grounded medical and psychological support system for disabled children (DC), which allows involving them in classes in children and youth schools of adaptive physical education, preparing the country’s Paralympic DC reserve. 

Aim of the study. To develop and create a medical support system for the Paralympic DC reserve,  capable of improving their quality of life and forming a medical and social lift. 

Materials and methods. Children aged from 1 year to 18 years had cerebral palsy (CP) with impaired motor functions of levels I and II according to the global motor function assessment system and the Manual Abilities Classification system and their families were monitored. A comprehensive assessment of the somatic, neurological, mental and nutritional status of CP children) was carried out, and a wide range of comorbid pathology was described. After the rehabilitation treatment with the use of complex personalized rehabilitation programs, dynamic monitoring of the condition of patients with cerebral palsy was carried out, followed by an assessment of the effectiveness of rehabilitation treatment and the impact on it the psychological readiness of patients, their parents to engage in Paralympic sports, as well as the socio-economic level of the family. The attitude of CP children and their parents to participate in the Paralympic movement was studied. All patients underwent a comprehensive study of somatic, neurological, orthopaedic, psychological and nutritional status. The socio-hygienic characteristics of families and the rehabilitation potential of DC and their families have been determined. 

Results. Children with cerebral palsy have a wide range of comorbid pathology, which requires the involvement of specialists of different profiles in the curation of patients. The use of complex personalized rehabilitation programs allows achieving positive dynamics after 14 days of rehabilitation treatment. Early introduction of botulinum therapy in the rehabilitation program of CP patients provides higher efficiency of rehabilitation treatment. Treatment of protein-energy deficiency in CP children should include correction of the diet using specialized products, metabolic therapy, enzyme and complex vitamin preparations. Differentiated medical, psychological and pedagogical counselling of parents of CP children will allow optimizing the solution of the state problem regarding the timely inclusion of persons with disabilities in adaptive physical education classes. 

Conclusion. The development and creation of a comprehensive medical and psychological support system solve an urgent medical and social problem, ensuring the integration of DC into society and improving the quality of life of both a sick child and his family members.

Introduction. In patients with infantile cerebral palsy (CP), botulinum therapy is used to treat both muscle tone disorders and sialorrhea. Therefore, it is logical to use one preparation of botulinum toxin type A to treat spasticity and sialorrhea in one injection procedure.

The aim of the work is to conduct a retrospective analysis of data from 15 centres that treat patients with cerebral palsy and use the botulinum therapy method to determine the optimal doses of IncobotulinumtoxinA (IBTA) for the treatment of spasticity and chronic sialorrhea in real clinical practice.

Materials and methods. The treatment results of 389 children with cerebral palsy (including 211 (54.2%) boys) with IBTA were analyzed. The majority were children with bilateral forms of cerebral palsy – 312 (80.2%). The average age of the patients was 5.27 ± 3.71 years, the average weight of the patients was 18.8 ± 10.9 kg.

Results. The total dose of IBTA in the group of 389 patients with cerebral palsy for the treatment of spasticity was 163.74 ± 80.65 U (25–550; 95% CI 155.7–171.7) and 10.4 ± 5.4 U/kg body weight (1,25–29.7; 95% CI 9.8–10.9). The total dose of IBTA in the group of patients with cerebral palsy with simultaneous treatment of spasticity and chronic sialorrhea (n = 16) was significantly higher: 267.18 ± 124.57 U (115–570; 95% CI 200.8–333.6) and 13, 0 ± 7.1 U/kg (5.8–24.6; 95% CI 9.2–16.8). In the lower extremities, the most frequent target muscles were the gastrocnemius (55.0% of cases; 95% CI 49.9–60.0) and semitendinosus / semimembranous muscle (46.3% of cases; 95% CI 41.2–51.4 ), and in the upper limbs — pronator teres (48.6% of cases; 95% CI 43.5–53.7) and biceps brachii (28.8% of cases; 95% CI 24.3–33.6).

Limitations of the study. The limitations of our work are the use of an open retrospective study format, a relatively small sample of patients with chronic sialorrhea, the absence of long-term follow-up of patients and the results of repeated IBTA injections.

Conclusion. If it is necessary to use botulinum therapy for the treatment of spasticity and sialorrhea in a child with CP, it is optimal to use the product IncobotulinumtoxinA, which will allow correction of two pathological manifestations in one procedure and can shorten the intervals between repeated injection cycles.

Introduction. Pompe disease (PD) or type II glycogenosis is a rare multisystem hereditary accumulation disease caused by a deficiency of the enzyme acid maltase (acid alpha-1,4-glucosidase), which leads to reduced activity to the accumulation of glycogen in various organs and tissues of the body.

The aim of the study is to develop a high-performance method of early biochemical diagnosis of PD and optimization of its molecular genetic diagnosis.

Materials and methods. The characteristics of the relative frequencies and spectrum of the detected mutations were studied using a  sample of 7670 patients with suspected Pompe disease admitted to the National Medical Research Center of Children’s Health of the Ministry of Health of Russia as part of the selective screening, as well as eight patients with PD, whose laboratory diagnosis was made outside the framework of this selective screening.

Results. As a result of selective screening of PD in Russian patients from high-risk groups, the detectability was 0.47%. PD’s clinical and age characteristics in both children and adults are described. The relative frequencies are calculated, and the spectrum of 47 pathogenic variants of the GAA gene responsible for the occurrence and development of Pompe disease in 44 patients is characterized. Seventeen new mutations of the GAA gene, unknown previously, have been identified and described, adding 2.7% to the HGMD database.

Conclusion. Optimization of the algorithm of molecular diagnosis of Pompe disease in Russian patients is proposed.

Introduction. Tension-type headache (TTH) represents a widespread and recurrent disease in adults, children, and adolescents, adversely affecting the quality of life, learning achievements, and social functioning. In recent publications, a high incidence of comorbid disorders in patients with TTH is discussed, in particular sleep disorders.

The aim of the study was to assess the nature and prevalence of sleep disorders in children and adolescents with frequent episodic TTH and chronic TTH. 

Materials and methods. One hundred fifty patients aged from 8 years to 16 years 11 months with TTH were examined. Of them, 91 (49 boys, 42 girls) had frequent episodic TTH, 59 (26 boys, 33 girls) had chronic TTH. There was used Sleep Disturbance Scale for Children including  26 questions for parents. 

Results. The present study confirms the high incidence of sleep disorders among TTH children and adolescents. TTH was diagnosed in 129 (86.0%) out of 150 patients. The most frequently diagnosed varying degrees of severity (clinically relevant and borderline, when assessing sleep disorders in children) were insomnia (disorders of initiating and maintaining sleep) — in 65.3% of patients (including 60.4% with frequent episodic TTH and 72.9% with chronic TTH), excessive somnolence — in 74.7% (67.1% and 86.4%), sleep breathing disorders — in 26.7% (23.1% and 32.2%), disorders of arousal/nightmares — in 46.0% (42.9% and 50.8%), sleep-wake transition disorders — in 65.3% (67.1% and 62.7%), sleep hyperhidrosis — in 31.3% (26.4% and 39.0%). Thus, all sleep disorders (except for sleep-wake transition disorders) were significantly more common among the patients with chronic TTH.

At the same time, in the subgroup of patients with TTH and any sleep disorders, significantly more prominent indicators of the frequency, the intensity of TTH and its negative impact on the daily activity were revealed, compared to patients with TTH lacking sleep disorders.

Conclusion. The results of the assessment of children and adolescents with TTH show that when planning preventive therapy for TTH and evaluating its results, not only main clinical characteristics of TTH should be taken into account, but also the manifestations and severity of comorbid disorders, including sleep disorders observed in most patients with TTH. The revealed prevalence of various sleep disorders in the subgroup of patients with chronic TTH confirms that sleep disorders and anxiety disorders refer to significant risk factors for the transition of TTH to a chronic form, and such patients need more active multimodal treatment.

Summary. Duchenne muscular dystrophy (DMD) is a hereditary progressive muscular dystrophy, mainly manifested in boys, is characterized by the onset at an early age, gradual symmetrical atrophy of the striated musculature of the limbs, trunk, as well as damage to the heart muscle. As a rule, girls and women inheriting a pathological mutation are classified only as its carriers and do not have clinical manifestations of the disease. Rare cases when women or girls show clinical manifestations of DMD may be due to chromosomal rearrangements involving the region of the short arm of the X chromosome (Xp21.2), deletions of this region, complete loss of the X chromosome (Shereshevsky-Turner syndrome), homogenous X chromosome dysomnia, compound heterozygous state for two pathogenic mutations in the DMD gene, nonequilibrium inactivation of the X chromosome.

When female mutation carriers have DMD clinical symptoms, they usually manifest much milder than boys and young males. Descriptions of patients with the severe course and rapid progression of the disease, comparable in the rate of progression with boys, are rare. In this article, the authors share their experience of observing a girl patient who suffered from a severe form of DMD.