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Sotos syndrome belongs to the group of diseases characterised by features such as facial dysmorphism, intellectual disability, hypotonia and overgrowth. Usually, Sotos syndrome is caused by heterozygous mutations in the NSD1 gene at chromosome 5q35 or by large genomic deletions of the same region. Genotype-phenotype correlations have mainly been reported as an association of significant or major abnormalities and presence of 5q35 deletions rather than intragenic deletions or point mutations in NSD1. Congenital hyperinsulinemic hypoglycaemia (CHI) has been described as an uncommon feature in the presentation of Sotos syndrome. Most of the patients with Sotos syndrome and transient CHI were carriers of 5q35 deletions, while persistent CHI has been recently reported in individuals with point mutations or small NSD1 deletions. We report the clinical features and medical treatment in a new-born child with Sotos syndrome and CHI that was present for almost two years. Genetic cause of Sotos syndrome in this case was a novel, large genomic deletion encompassing 24 Online Mendelian Inheritance in Man genes including the entire NSD1 gene and six other potentially morbid genes. Our report describes challenges in diagnosis and management of this rare genetic condition. We propose, that in neonatal diagnostics, the phenotypic spectrum of Sotos syndrome should include CHI as a characteristic feature and molecular genetic testing should be done by whole genome analysis

Background: Accurate assessment of biological maturity (BM) is essential in pediatric sports medicine to support individualized training and injury prevention. Traditional methods, such as sexual maturity ratings (SMR) and radiographic imaging, have limitations including subjectivity, discomfort, and radiation exposure. This study aimed to evaluate and validate the use of two established ultrasonography protocols for assessing biological maturity at the tibial tuberosity in healthy, physically active youth.

Methods: Seventy-three children and adolescents (41 boys, 32 girls; mean age 13.4 years) were recruited from schools in Northern Sweden. BM was assessed using SMR and two established ultrasonographic protocols (Sailly and Kijima). Validity was evaluated using Spearman’s rho, and inter- and intrarater reliability were assessed with Cohen’s weighted kappa.

Results: Ultrasonographic assessments showed strong agreement with SMR-based evaluations. Interrater reliability was substantial for both methods (κ = 0.761–0.814, p < 0.001). The method proved feasible for use by trained physiotherapists and did not require radiological or endocrinological expertise.

Conclusion: Ultrasonography, combined with anthropometric data, is a valid, reliable, and practical alternative for assessing BM in youth. Its non-invasive, radiation-free nature and scalability make it particularly suitable for pediatric and sports settings. Further research should explore its application in diverse populations and its role in guiding biologically informed training strategies.

Aim: To explore and describe the experiences of Swedish diabetes specialist nurses in supporting emerging adults with type 1 diabetes mellitus after the transfer from paediatric to adult care.

Background: The transfer from paediatric to adult care for emerging adults living with type 1 diabetes mellitus is a critical period that can impact their well-being and long-term health outcomes. Diabetes specialist nurses play a crucial role in supporting these individuals during the transitions in emerging adulthood. However, their experiences and challenges in providing optimal support have not been extensively studied.

Method: We used a qualitative descriptive design. Ten diabetes nurse specialists from six different Swedish hospitals participated in recorded individual interviews by video link or face-to-face using a semistructured interview guide. Data collection spanned from May to December 2023, and the data were analysed with qualitative content analysis. Informed consent was obtained.

Results: The main theme of the results was ambition to optimise individual support but with hands tied by structural barriers with three additional themes concentrating on the individual and the relationship, emphasising long-term objectives in self-management support, and struggling with obstacles to providing accessible care. The results indicate that while diabetes specialist nurses focus on building strong relationships and emphasise long-term goals in self-management support, they encounter significant obstacles when providing accessible care after the transfer to adult care.

Conclusion: Diabetes specialist nurses highlighted a need for education and training that extends beyond simply managing the medical condition, considering various life transitions and psychosocial challenges. The findings indicate that future standards for supportive interventions should prioritise existential and psychosocial factors. There is a lack of systematic national consensus on collaboration, as the diabetes specialist nurses reported differing experiences regarding transfers and continuity of care.

Background: This study investigated the associations of muscular strength measures with anthropometry, chronological age, biological maturation, and training experience in trained prepubertal and pubertal males. Another aim was to investigate if handgrip strength can predict general or overall muscle strength in the same population.

Method: Forty-one (n = 41) trained male children and adolescents aged 10–16 participated in the study. The 10-repetition maximum (RM) leg press and bench press were used to assess upper- and lower-body muscular strength, handgrip strength was used as an overall strength assessment, and a countermovement jump with arm swing (CMJa) was used to estimate extensor muscle power of the lower extremity. The maturity status was determined using the Tanner scale. Anthropometric factors included height, body mass, two skinfolds, limb length, and lean leg volume. Multivariable linear regressions were performed on absolute strength values to explore predictors of muscular strength and power.

Results: Body mass explained 81% of the variance in leg press strength (p < 0.001), whereas bench press was associated with body mass and chronological age, explaining 83% of the variance (p < 0.001). The countermovement jump (CMJa) height was positively associated with lean leg volume, which explained 52% of the variance (p < 0.001). Chronological age and fat-free mass explained 87% of the variance in handgrip strength (p < 0.001). Biological maturity (Tanner) did not contribute to the final models. Handgrip strength was strongly associated with total muscle strength (r = 0.89–0.91, p < 0.001).

Conclusion: The results indicate that anthropometrical factors, rather than biological maturity, are associated with muscular strength in trained male children and adolescents. Our findings suggest that handgrip strength may be a quick and effective screening tool for assessing total muscle strength in youth.

Purpose: Examine the acute hormonal and cytokine responses to free-weight resistance training in trained prepubertal and pubertal male children.

Methods: Prepubertal (n = 21; age 11.4 ± 1.1 years; Tanner I–II) and pubertal male children (n = 20; age 15.8 ± 0.7 years; Tanner III–V) conducted a moderate-intensity free-weight resistance training program to failure with venous blood sampling before (pre), immediately after (post) and during the recovery phase of the program (post-15,-30 min). Growth hormone (GH), insulin-like growth factor-I (IGF-I), cortisol, testosterone, IL-6, and TNF-α were analyzed in serum samples. Biological maturation was assessed according to the stages of the Tanner scale.

Results: There was a significant time-by-group interaction in IGF-I response (p = 0.044; η2 = 0.209) and testosterone (p < 0.001; η2 = 0.508), indicating a greater change in the pubertal group compared to the prepubertal group. Both groups significantly increased post-exercise GH levels (p < 0.05). Only the prepuberal group significantly increased levels of IL-6 at all post-exercise time points (p < 0.05). Both groups showed a significant (p < 0.05) increase in TNF-α levels compared to resting levels.

Conclusion: These data suggest that acute testosterone and IGF-I response following resistance training differ between trained prepubertal and pubertal male children. Moderate-intensity resistance training performed to failure may thus have different effects in trained prepubertal and pubertal male children, which should be considered when giving training advice. Trial registration: Clinical trials number: NCT05022992.

Objective: To study reproductive hormone levels during minipuberty in girls with Turner syndrome and compare with girls without Turner syndrome.

Design: Prospective cohort study.

Subjects: Infant girls with Turner syndrome.

Exposure: Blood samples were drawn at 3 and 9 months of age for analysis of reproductive hormones. Karyotype was analyzed in 30 lymphocytes and, if available, in 100 buccal cells. Hormone levels in girls with Turner syndrome were compared with reference values of a control group.

Main Outcome Measures: Follicle-stimulating hormone, luteinizing hormone, estradiol, antimüllerian (AMH), inhibin B, and testosterone levels.

Results: Fourteen girls with 45,X; five girls with 45,X/46,XX; and four girls with a structural aberration of the X chromosome were included. Follicle-stimulating hormone and luteinizing hormone levels were significantly higher, and estradiol, AMH, and inhibin B levels were significantly lower in girls with Turner syndrome compared with reference values at both time points. In girls with Turner syndrome with undetectable AMH levels, gonadotropin levels increased after 3 months, whereas in girls with Turner syndrome with detectable AMH levels, gonadotropin levels decreased after 3 months to levels within the reference range.

Conclusion: Hypothalamus-pituitary-gonadal axis hormone levels during minipuberty in girls with Turner syndrome differ from reference values. The window for assessing ovarian function extends beyond 3 months of age because gonadotropin levels tend to increase in cases with absent ovarian activity, as demonstrated by undetectable AMH, inhibin B, and estradiol levels.

Background: Recombinant human growth hormone (rhGH, somatropin) therapy is approved in children with Prader–Willi syndrome (PWS).

Objectives: To report safety and effectiveness data for children with PWS treated with biosimilar rhGH (Omnitrope®, Sandoz) in the PAtients TReated with Omnitrope (PATRO) Children study.

Design: PATRO Children was a multicenter, non-interventional, postmarketing surveillance study.

Methods: Children with PWS received Omnitrope according to standard clinical practice. Adverse events (AEs) were monitored for the duration of Omnitrope treatment. Effectiveness outcomes were also assessed, including height standard deviation (SD) scores (HSDS).

Results: As of July 2020 (study completion), 235 patients with PWS had been enrolled. At baseline, 95.7% (n = 225) of patients were prepubertal and 86.4% (n = 203) were rhGH treatment-naïve. At analysis, the median (range) treatment duration in the study was 56.8 (2.9–155.8) months. AEs were reported in 192 patients (81.7%) and were suspected as treatment-related in 39 patients (16.6%). Serious AEs (SAEs) were reported in 96 patients (40.9%) and were suspected as treatment-related in 22 patients (9.4%). The most frequent treatment-related SAEs were sleep apnea syndrome (n = 11; 4.7%), tonsillar hypertrophy (n = 4; 1.7%), and adenoidal hypertrophy (n = 4; 1.7%). Development of scoliosis was considered treatment-related in two patients; development of impaired glucose tolerance in one patient and type 2 diabetes mellitus in another patient were considered treatment-related. Effectiveness outcomes were primarily assessed in 153 patients who completed 3 years of treatment. Among the 151 prepubertal patients (135 treatment-naïve), mean (SD) change from baseline in HSDS after 3 years was +1.50 (1.07) across all patients and +1.57 (1.07) for treatment-naïve patients.

Conclusion: These data suggest that biosimilar rhGH is well tolerated and effective in patients with PWS managed in real-life clinical practice. Patients with PWS should continue to be closely monitored for well-known safety issues (including respiratory, sleep, and glucose metabolism disorders, and scoliosis) during rhGH treatment.

Childhood-onset osteoporosis is a rare but clinically significant condition. Studies have shown pathogenic variants in more than 20 different genes as causative for childhood-onset primary osteoporosis. The X-chromosomal PLS3, encoding Plastin-3, is one of the more recently identified genes. In this study, we describe five new families from four different European countries with PLS3-related skeletal fragility. The index cases were all hemizygous males presenting with long bone and vertebral body compression fractures. All patients had low lumbar spine bone mineral density (BMD). The age at the first clinical fracture ranged from 1.5 to 13 years old. Three of the identified PLS3 variants were stop-gain variants and two were deletions involving either a part or all exons of the gene. In four families the variant was inherited from the mother. All heterozygous women reported here had normal BMD and no bone fractures. Four patients received bisphosphonate treatment with good results, showing a lumbar spine BMD increment and vertebral body reshaping after 10 months to 2 years of treatment. Our findings expand the genetic spectrum of PLS3-related osteoporosis. Our report also shows that early treatment with bisphosphonates may influence the disease course and reduce the progression of osteoporosis, highlighting the importance of early diagnosis for prompt intervention and appropriate genetic counseling.

Aim: To explore young adults' experiences of living with type 1 diabetes in the transition to adulthood, including experiences of the transfer from paediatric to adult care.

Design: A qualitative approach was used.

Method: Ten young adults, six women and four men, aged 19–29 years, participated. Participants were recruited at their regular diabetes clinic from spring 2021 to spring 2022. Semi-structured interviews were transcribed and analysed using qualitative content analysis.

Findings: Dreaming of being nurtured towards self-reliance was the overarching theme. Personal experiences of the transition to adulthood, including the transfer from paediatric to adult care, were described in terms of struggling to find balance in daily life, dealing with feelings of being different, being gradually supported to achieve independence, and wishing to be approached as a unique person in healthcare.

Conclusion: In healthcare, it is important to emphasize not only diabetes-related factors but also emotional and psychosocial aspects of life connected to the transition to adulthood, including the transfer to adult care. The young adults wished to be seen as unique persons in healthcare during their emerging adulthood and should therefore be supported to achieve self-reliance through personal preparations for new challenges and for the consequences of transitioning to adulthood. Specialist nurses can provide appropriate knowledge and leadership.

Implications for the Profession: These findings can guide nurse specialists in support for emerging adults to achieve self-reliance and indicate the importance of person-centred care when experiencing transition and transfer.

Reporting Method: The study adhered to EQUATOR guidelines, and the COREQ checklist for qualitative studies was used as the reporting method.