Introduction: there is a lot of research on the quality of life of chronically ill children. Their parents, who take care of them 24 hours a day, have to solve many problems, but there are only a few studies about their well-being.
Aims: our aims were to carry out research on the quality of life of parents who take care of their chronically ill children, and to investigate which factors influence their life most.
The people in the study and methods: we asked the parents to fill out the „PROMIS® Item Bank v.1.0 – General Life Satisfaction” and the „PROMIS® Item Bank v.1.0 – General Self-Efficacy” questionnaires as well as one that we created.
We included in our study parents whose children were taken care of at the Neurology Department of Paediatrics, University of Pecs, the „Lépjünk, hogy Léphessenek” (meaning: Let’s get moving so they can get moving) foundation and the „Hungarian Rett Syndrome” foundation. After that, using an algorithm called K-Means, we divided the parents
into four groups according to their quality of life (excellent, good, satisfactory and bad). We studied the relations between these groups and the different factors that we had asked about in the questionnaire.
Results: after the evaluation of the 78 completed questionnaires, we have found that none of the most anxious parents found their quality of life better than satisfactory while 86% of the least anxious parents found their quality of life good or excellent. The mean age of the parents was 44 years. Only 19% considered themselves to be healthy, but the majority
of the healthy parents (94%) found their quality of life to be good or excellent. Out of the parents who said they had some chronic illnesses (81%) only 47% found their life to be good or excellent. 84% of those who thought of themselves as competent parents considered their life quality to be good or excellent, while in the case of those who thought of themselves as less competent this ratio was only 16%. We did not find a strong correlation between the quality of life of the parents and the duration time that their children had spent in hospital in the previous year. There was no such correlation with the children regularly taking part in community activities, either.
Conclusions: the quality of life of the parents who take care of their chronically ill children is not only determined by the condition of their child, but their somatic and psychological status is also a very relevant factor. Therefore, it is important to consider not only the health and psychical well-being of the children with chronic diseases but of their
parents’ as well.

Fabry disease (FD) is a rare, X-linked inherited, progressive lysosomal storage disorder with multisystemic involvement, manifesting in both genders. Pain is a common early symptom with burning character, affecting typically the palms and soles. Despite of this, it often takes a very long time, until the disease will be diagnosed. However, the early recognition
of FD is paramount because of its important therapeutic consequence, since the enzyme replacement therapy is available also in Hungary. In this article we report a 12 year – old boy who was diagnosed with FD in 2019. He had an appointment in our Outpatient Pain Clinic because of recurrent pain of the palms and soles and headache. His case shows the complexity of the pain development and experience.

Spectacular progress has happened in the therapy of spinal muscular atrophy (SMA) in the last decade. Today more therapies with different mode of actions are available for the disease which entails muscle weakness, atrophy and limited life expectancy. The Nusinersen therapy which was licensed first in the world in 2016 has brought a great change
into patients’ life. The goal of this paper is to summarise the therapies that are registered or being tested and the Hungarian experiences with Nusinersen of last 2 years.

Gene replacement therapy is a new perspective in the treatment of spinal muscular atrophy. Rapid locomotor development and transient side effects have been reported in infants. We have 3 months of follow-up experience with its use in six children. It was administered at an average age of 78.5 (13-101) weeks, in all children after prior nusinersen therapy. The mean weekly increase in CHOP INTEND per patient was 0.85 points. in the CHOP INTEND
scale.The greatest motor development was measured in the 13-week-old infant, but children older than one year showed motor development as well. The pace of development did not decrease even after the nusinersen effect subsided. Asymptomatic thrombocytopenia, troponin I and transaminase elevations were reversible in every patient.

Neuronal ceroid lipofuscinosis type 2 (CLN2), a rare neurodegenerative paediatric disorder got into highlight after the approval of enzyme replacement therapy, which resulted in a significant reduction of disease progression. The disease generally begins in children aged 2-4 years, followed by a rapid decline in motor and language abilities accompanied by seizures leading to premature death at the age of 10-12 years. At the First Department of Paediatrics, Semmelweis University, Budapest, Hungary the enzyme replacement treatment has been conducted for approximately 1,5 years. Until now we have been applying the treatment at a single patient. The regular intracerebro-ventricular administration of the drug is well tolerated and safe, considering the strict safety precautions. Clinically no significant neurological decline occurred at our recently 6-year-old patient since the treatment was introduced. The approved enzyme replacement therapy delays disease progression, therefore early diagnosis is crucial for optimal therapeutic response. Helpful aid for patient identification are the widely available, free of charge dry blood spot tests and the neurological gene panel examinations in child neurology centres.

The complex management of patients with spinal muscular atrophy types I and II involves the initiation of non-invasive respiratory support in order to keep or improve the oxygenation and ventilation, to aid the elimination of the secretions from the airways and to prevent the development of chest deformity.
In patients with SMA type I the introduction of non-invasive ventilation (NIV) is highly recommended at the time of the initiation of nusinersen therapy while the need of respiratory support depends on the progression of the disease and the results of the polisomnographic assessment in patients with type II SMA. Once started, chronic NIV at the patients home involves the use of respiratory support during sleep (or as needed) and the regular clearance of the secretions from the airways using cough assisting devices.
Since NIV became available, the development of respiratory failure was prevented in most of the cases, lower respiratory tract infection was less common and the frequency and the number of days of hospitalisation decreased significantly. The closely monitored respiratory support not only improved the ventilation and oxygenation but it also had an effect on the somatomental development of the children.
In general, chronic NIV improves quality of life of the patients especially the ones whose disease is already advanced.

Introduction: Next generation sequencing plays important role in the etiological diagnostics of epilepsy. Gene panels and whole exome sequencing are dedicated to examine these paediatric cases.
Case reports: Presented patients are common from the point of view that epilepsy started in infancy and their psychomotor development was severely retracted. From clinical examinations brain MRI provided the most valuable informations before genetic diagnostics. Different monogenic epileptic syndromes were diagnosed in these cases.
Conclusion: Genetic diagnosis in epilepsy syndromes today doesn’t mean new possibility for therapy in most of the cases, however, some suggestion in connection with special gene mutations can help in choosing proper antiepileptic treatment. The main importance of genetic diagnosis is in prognostic evaluation and the knowledge of the mode of
inheritance.

Significant progress has been made over the last decade in the diagnosis and treatment of hereditary metabolic disorders, especially lisosomal storage diseases. In our case reports, we would like to present the medical history of four infants with classic Pompe disease. The cases were identified based on diagnostic tests showing low 1,4-glucosidase (GAA) enzyme activity, which was confirmed in all cases by genetic testing. Enzyme replacement
therapy has been available since 2006. Early detection results in significantly greater therapeutic success.