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The identified novel mutation represents an expansion of the myopathy phenotype described before and is characterised particularly by achalasia, alacrima, neurological and muscular phenotypes.

This is a prepublication version of an article that has undergone peer review and been accepted for publication but is not the final version of record. This paper may be cited using the DOI and date of access. This paper may contain information that has errors in facts, figures, and statements, and will be corrected in the final published version. The journal is providing an early version of this article to expedite access to this information. The American Academy of Pediatrics, the editors, and authors are not responsible for inaccurate information and data described in this version.

OBJECTIVE To analyze whether the coronavirus disease 2019 (COVID-19) pandemic increased the number of cases or impacted seasonality of new-onset type 1 diabetes (T1D) in large pediatric diabetes centers globally. RESEARCH DESIGN AND METHODS We analyzed data on 17,280 cases of T1D diagnosed during 2018–2021 from 92 worldwide centers participating in the SWEET registry using hierarchic linear regression models. RESULTS The average number of new-onset T1D cases per center adjusted for the total number of patients treated at the center per year and stratified by age-groups increased from 11.2 (95% CI 10.1–12.2) in 2018 to 21.7 (20.6–22.8) in 2021 for the youngest age-group, <6 years; from 13.1 (12.2–14.0) in 2018 to 26.7 (25.7–27.7) in 2021 for children ages 6 to <12 years; and from 12.2 (11.5–12.9) to 24.7 (24.0–25.5) for adolescents ages 12–18 years (all P < 0.001). These increases remained within the expected increase with the 95% CI of the regression line. However, in Europe and North America following the lockdown early in 2020, the typical seasonality of more cases during winter season was delayed, with a peak during the summer and autumn months. While the seasonal pattern in Europe returned to prepandemic times in 2021, this was not the case in North America. Compared with 2018–2019 (HbA1c 7.7%), higher average HbA1c levels (2020, 8.1%; 2021, 8.6%; P < 0.001) were present within the first year of T1D during the pandemic. CONCLUSIONS The slope of the rise in pediatric new-onset T1D in SWEET centers remained unchanged during the COVID-19 pandemic, but a change in the seasonality at onset became apparent.

Longitudinal data of patients with CH was analysed and compared to current guidelines. Confirmation and start of treatment are according to the recommendations. However standardised IQ testing requires improvement.

Objective To assess if metabolic control worsened during the SARS‐CoV2 lockdown in spring 2020 in youth with type 1 diabetes (T1D) in Germany. Methods Data from 19,729 pediatric T1D patients from the diabetes prospective follow‐up (DPV) registry were available. Data sets from four time‐periods between January 1 and June 30, 2020, were compared with data from the whole year 2019 in the same patient; differences were adjusted for seasonality, increasing age, and longer diabetes duration. HbA1c values from laboratory measurements and estimates derived from continuous glucose monitoring (CGM) were aggregated into a combined glucose indicator (CGI), expressed in analogy to HbA1c. Results Based on regression models adjusted for differences of sex, age, diabetes duration, and migratory background between the four time‐periods, CGI values in 2020 were slightly higher than in 2019, for example, by 0.044% (0.042–0.046) (median [95% CI]) in the second lockdown month, time‐period 3. Insulin dose and BMI‐SDS were also marginally higher. In 2020, there were fewer hospitalizations (e.g., incidence risk ratio in time‐period 3 compared with 2019: 0.52 [95% CI: 0.46–0.58]). In a subgroup of patients reporting CGM data in both years, metrics in 2020 improved: time in target increased, and mean sensor glucose fell, for example, by 2.8% (2.7–2.9), and by 4.4 mg/dl (4.3–4.6) in time‐period 3. Conclusion Before, during, and after the lockdown in spring 2020, metabolic control in youth with T1D in Germany did not differ significantly from the preceding year. Further effects of the ongoing pandemic on pediatric T1D patients need to be evaluated.

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Aim To obtain additional information on the incremental differences between using a sensor‐augmented pump (SAP) without automated insulin delivery (AID), using it with predictive low‐glucose management (PLGM) or as hybrid closed loop (HCL), in preschool and school children. Methods We conducted a monocentric, randomized, controlled, two‐phase crossover study in 38 children aged 2‐6 and 7‐14 years. The primary endpoint was the percentage of time in range (TIR) of 70‐180 mg/dl. Other continuous glucose sensor metrics, HbA1c, patient‐related outcomes (DISABKIDS questionnaire, Fear of Hypoglycaemia Survey) and safety events were also assessed. Results from 2 weeks of SAP, 8 weeks of PLGM and 8 weeks of HCL were compared using a paired t‐test or Wilcoxon signed‐rank test. Results Overall, we found a high rate of TIR target (>70%) achievement with HCL in preschool (88%) and school children (50%), with average times in Auto Mode of 93% and 87%, respectively. Preschool children achieved a mean TIR of 73% ± 6% (+8% vs. SAP, +6% vs. PLGM) and school children 69% ± 8% (+15% vs. SAP and + 14% vs. PLGM). Overall, HbA1c improved from 7.4% ± 0.9% to 6.9% ± 0.5% (P = .0002). Diabetes burden and worries and fear of hypoglycaemia remained at low levels, without significant changes versus PLGM. No events of severe hypoglycaemia or diabetic ketoacidosis occurred. Conclusions Preschool children profit from AID at least as much as those aged 7 years and older. To ensure safe use and prescribing modalities, regulatory approval is also required for young children.