Karolina Śledzińska

Background: Metachromatic leukodystrophy (MLD) is a rare, inherited lysosomal storage disorder caused by a deficiency in arylsulfatase A (ARSA), leading to sulfatide accumulation, demyelination, and progressive neurological decline. Without treatment, patients – particularly those with early-onset forms – typically lose the ability to walk or communicate within months of symptom onset, and life expectancy is markedly reduced, often below 10 years. Although MLD is likely underdiagnosed in Poland, prevalence may be higher than average. Early diagnosis and prompt intervention with gene therapy (arsa-cel) are critical, as neuronal damage is irreversible. This exploratory study aimed to characterise the clinical course of MLD in Poland and assess the quality of life and financial well-being of caregivers. Results: The study included 13 MLD patients and 28 caregivers. The most common forms were late-infantile (46.2%) and early-juvenile (38.5%). Most patients were classified as GMFC-MLD stage 6 (53.8%) and ELFC-MLD stage 4 (69.2%). Common symptoms included spasticity (84.6%), walking difficulties (84.6%), and speech disorders (69.2%). The mean age at diagnosis was 4.8 years, with 69.2% of caregivers reporting that delayed diagnosis adversely impacted the child’s health. Caregivers were predominantly female (67.9%) and reported high caregiving demands (mean = 35.7 h/week). WHOQOL-BREF scores exceeded medians for caregivers of people with rare diseases across all domains. Financial well-being was strongly correlated with physical health ( r = 0.636, p < 0.001) and psychological health ( r = 0.717, p < 0.001). Only 14.3% of MLD caregivers received psychological counselling at diagnosis, though 92.3% received financial support. Gene therapy was reported in 15.4% of cases; most patients received multiple forms of rehabilitative therapy. Conclusion: MLD in Poland is characterised by early-onset, rapidly progressing forms that lead to severe disability and impose significant burdens on families. Delayed diagnosis was commonly reported in this cohort, with many caregivers indicating that it had negatively affected the child’s health and limited timely access to potentially disease-modifying treatments. Despite intensive caregiving responsibilities, many caregivers report a relatively preserved quality of life, especially when financial support is available. While these exploratory findings should be interpreted with caution, they support the need for improved early detection and coordinated care for individuals with MLD. Within this broader context, systematic newborn screening in Poland may facilitate earlier diagnosis and timely access to gene therapy, potentially improving patient outcomes and reducing the long-term burden on families and the healthcare system. Clinical trial number: Not applicable

Congenital vertebral malformations (CVMs), affecting approximately 0.5–1 per 1000 live births, occur either in an isolated form or as part of syndromic disorders. Despite the identification of numerous causative genes for CVMs, the molecular etiology of most cases remains unknown. In this study, we applied a three-tiered diagnostic approach (chromosomal microarray analysis, followed by custom gene panel analysis, and exome/genome sequencing) in a cohort of 34 patients with CVMs. We achieved a 12% diagnostic success rate, identifying a deletion upstream of SOX9 and pathogenic or likely pathogenic variants in FLNB and KMT2D. Most pathogenic variants were detected by exome or genome sequencing, while earlier-tier analyses yielded limited results. We also identified two candidate genes, NSD2 and TBXT, that may contribute to the phenotype observed in our patients, but warrant future functional validation. Our work expands the molecular spectrum of CVMs and highlights the utility of comprehensive genomic testing for improving diagnosis and understanding of vertebral development disorders.

Duchenne muscular dystrophy (DMD) is the most frequent, progressive disease caused by a genetic defect that leads to the production of a nonfunctional form of dystrophin, thereby causing premature death. Ways to improve, adapt, and facilitate the care of people with DMD are still being explored. This viewpoint, developed by an accredited Duchenne center, aims to present current telemedicine options specifically tailored for patients with DMD and to discuss the advantages and limitations of these approaches across various health care domains. As one of the first centers in Poland to implement such an approach, the accredited Duchenne center provides targeted home-based care by using digital platforms and telemedicine tools. Additionally, we explore the potential of telemedicine to support different types of remote communication, including provider-to-provider, between patient/caregiver and provider, and between patient/caregiver and patient/caregiver interactions. This model has the potential to significantly enhance access to specialized care and improve the continuity and quality of life for those living with DMD.

UNSTRUCTURED Duchenne muscular dystrophy (DMD) is the most frequent, progressive disease caused by a genetic defect that leads to the production of a nonfunctional form of dystrophin, thereby causing premature death. Ways to improve, adapt, and facilitate the care of people with DMD are still being explored. This viewpoint, developed by an accredited Duchenne center, aims to present current telemedicine options specifically tailored for patients with DMD and to discuss the advantages and limitations of these approaches across various health care domains. As one of the first centers in Poland to implement such an approach, the accredited Duchenne center provides targeted home-based care by using digital platforms and telemedicine tools. Additionally, we explore the potential of telemedicine to support different types of remote communication, including provider-to-provider, between patient/caregiver and provider, and between patient/caregiver and patient/caregiver interactions. This model has the potential to significantly enhance access to specialized care and improve the continuity and quality of life for those living with DMD.

Background: The etiopathogenesis of inflammatory bowel disease (IBD) is still unclear. Prior studies suggest genetic components that may influence the incidence and severity of the disease. Additionally, it was shown that low levels of serum vitamin D may have an impact on the clinical course of the disease due to its effect on the immunological system. Methods: We aimed to investigate the correlation between the incidence of vitamin D receptor (VDR) gene polymorphisms (rs11568820, rs10735810, rs1544410, rs7975232, and rs731236, commonly described as Cdx2, FokI, Bsm, ApaI, and TaqI, respectively) and vitamin D concentration with the clinical course of IBD (disease activity, extent of the intestinal lesions). Data were obtained from 62 patients with IBD (34 with Crohn’s disease, 28 with ulcerative colitis), aged 3–18 years, and compared with controls (N = 47), aged 8–18 years. Results: Although there was no difference in the incidence of individual genotypes between the study groups (IBD, C) in all the polymorphisms examined, we described a significant increase in the chance of developing IBD for heterozygotes of Cdx2 (OR: 2.3, 95% CI 0.88–6.18, p = 0.04) and BsmI (OR: 2.07, 95% CI 0.89–4.82, p = 0.048) polymorphisms. The mean serum 25OHD level in patients with IBD was significantly higher compared with the controls (19.87 ng/mL vs. 16.07 ng/mL; p = 0.03); however, it was still below optimal (>30 ng/mL). Furthermore, a significant correlation was found between vitamin D level and TaqI in patients with IBD (p = 0.025) and patients with CD (p = 0.03), as well as with the BsmI polymorphism in patients with IBD (p = 0.04) and patients with CD (p = 0.04). A significant correlation was described between the degree of disease activity and genotypes for the FokI polymorphism in patients with UC (p = 0.027) and between the category of endoscopic lesions and genotypes for the Cdx2 polymorphism also in patients with UC (p = 0.046). Conclusions: The results suggest a potential correlation of VDR gene polymorphism with the chance of developing IBD, and the clinical course of the disease requires further studies in larger group of patients. Vitamin D supplementation should be recommended in both children with inflammatory bowel disease and in healthy peers.

The progression of Duchenne muscular dystrophy (DMD)requires the assessment of nutritional disturbances at each stage of the disease. The purpose of this study was to assess the nutritional status in various ages of boys with DMD using screening and in-depth evaluation methods. Body composition by Dual X-ray Absorptiometry (DXA), basal metabolic rate (BMR) by indirect calorimetry, a questionnaire of nutritional status—Pediatric Nutrition Screening Tool (PNST)—and laboratory parameters were performed. In the cohort of 93 boys aged 8.54 (5.9–12.6 years), inappropriate nutritional status occurred in 41.8% of boys (underweight 11.8%, overweight 16.0%, and obesity 14.0%). In the 10–13 age group, the occurrence of overweight and underweight was the highest. Based on PNST, 15.1% of patients were at nutritional risk (≥2 points)—the most in the 14–17 age group (29%). A negative correlation was identified between PNST and z-scores of body weight, BMI, and FFMI (r Spearman = −0.49, −0.46, and −0.48, respectively; p < 0.05). There were no differences between BMR results from indirect calorimetry and calculations from the Schofield formula for any age group. In obese boys, the caloric requirement in indirect calorimetry was significantly lower than that indicated by the calculations according to the Schofield formula (p < 0.028). Inappropriate nutritional status occurred in almost half of the children with DMD. The age group in which nutritional disorders were most frequently identified was 10–13 years old. PNST could be considered a tool for screening malnutrition after testing a larger group of DMD patients.

Progressive, irreversible muscle weakness is the leading symptom of Duchenne muscular dystrophy (DMD), often resulting in death from respiratory muscle failure. Little is known about the relationship between the functioning of the respiratory system and the hand grip—a function which remains long preserved. This study aimed to investigate the interdependence between muscle strength and the function of both hand grip and the respiratory system in patients with DMD. Materials and Method: The study included cohort patients, aged 6–17, with DMD, recruited from the Rare Disease Centre, Gdansk, Poland. Clinical status (Vignos scale, Brook scale), pulmonary function (respiratory muscle strength—MIP, MEP); spirometry (FEV1; FVC), as well as upper limb function (performance of the upper limb—PUL 2.0) and hand grip strength (HGS) (hand-held dynamometer) were evaluated in all participants. Results: Finally, 53 boys (mean age 11.41 ± 3.70 years, 25 non-ambulant) were included. Each of the participants presented a lower %pv of MIP (48.11 ± 27), MEP (38.11 ± 22), PUL (75.64 ± 27), and HGS (33.28 ± 18). There were differences between the ambulatory and non-ambulatory groups in values of MIP, MEP, FVC, PUL, HGS (p < 0.001 for all), and FEV1 (p < 0.013). There were correlations between PUL, HGS, and MIP (R = 0.56; R = 0.61, p < 0.001 both), MEP (R = 0.59; R = 0.62, p < 0.001), FVC (R = 0.77; R = 0.77, p < 0.001), and FEV1 (R = 0.77; R = 0.79; p < 0.001). These correlations were found for all participants, but non-ambulatory patients presented stronger relationships. Conclusions: 1. The pulmonary and upper limb functions were within the normal range in ambulatory and low in non-ambulatory patients with DMD, but the muscle strength of both systems was low, regardless of the stage of the disease. 2. There seems to be an interdependence between the respiratory system and upper limb strength in terms of muscle strength and function in DMD patients, which is stronger in non-ambulatory patients. This may be the basis for the creation of a new personalized plan in rehabilitation—the simultaneous rehabilitation of the respiratory and upper limb muscles. Further studies on this theory should be conducted.

The COVID-19 pandemic forced the reorganization of the multidisciplinary healthcare system for Duchenne muscular dystrophy (DMD). Digital solutions seemed to be an optimal way for providing rehabilitation during this time. The aim of our study was to investigate whether it is possible to conduct respiratory physical therapy with the use of telerehabilitation methods in boys with Duchenne muscular dystrophy. Methods: The study was conducted during the online conference ‘DMD—Let’s be together’ for Polish families with DMD. During the physical therapy panel, we showed the video with the instructions of respiratory exercises: glossopharyngeal breathing, positive inspiratory pressure, and positive expiratory pressure. All participants (n = 152) were asked to fill in the online survey evaluating the quality of the instructions, its acceptance, and understanding. Results: The survey was filled in by 31 (20.4%) participants; the mean age of the patients was 13.8, and 19 (61.3%) were ambulant. The video was displayed 127 times. The overall mean rating of the session was 4.77/5, and intelligibility was rated 4.74/5. Fourteen (45.2%) patients declared that they had performed the exercises by themselves or with their caregiver’s assistance; all caregivers declared that it is possible to perform the proposed exercises a few times a week or daily. Only two respondents replied to the invitation for an individual online session. Conclusions: The findings from the study show that respiratory telerehabilitation may be implemented in DMD patients; however, the interest in digital rehabilitation among caregivers of DMD boys in Poland is low. The reason for this situation requires further research.

In the course of inflammatory bowel disease (IBD) malabsorption may lead to a vitamin D deficiency and calcium–phosphate misbalance. However, the reports on the vitamin D status in children with IBD are few and ambiguous. Here, we are presenting complex analyses of multiple factors influencing 25OHD levels in IBD children (N = 62; Crohn’s disease n = 34, ulcerative colitis n = 28, mean age 14.4 ± 3.01 years, F/M 23/39) and controls (n = 47, mean age 13.97 ± 2.57, F/M 23/24). Additionally, calcium–phosphate balance parameters and inflammatory markers were obtained. In children with IBD disease, activity and location were defined. Information about therapy, presence of fractures and abdominal surgery were obtained from medical records. All subjects were surveyed on the frequency and extent of exposure to sunlight (forearms, partially legs for at least 30 min a day), physical activity (at least 30 min a day) and diet (3 days diary was analyzed with the program DIETA 5). The mean 25OHD level was higher in IBD patients compared to controls (18.1 ng/mL vs. 15.5 ng/mL; p = 0.03). Only 9.7% of IBD patients and 4.25% of controls had the optimal vitamin D level (30–50 ng/mL). Despite the higher level of 25OHD, young IBD patients showed lower calcium levels in comparison to healthy controls. There was no correlation between the vitamin D level and disease activity or location of gastrointestinal tract lesions. Steroid therapy didn’t have much influence on the vitamin D level while vitamin D was supplemented. Regular sun exposure was significantly more common in the control group compared to the IBD group. We found the highest concentration of vitamin D (24.55 ng/mL) with daily sun exposure. There was no significant correlation between the vitamin D level and frequency of physical activity. The analysis of dietary diaries showed low daily intake of vitamin D in both the IBD and the control group (79.63 vs. 85.14 IU/day). Pediatric patients, both IBD and healthy individuals, require regular monitoring of serum vitamin D level and its adequate supplementation.