No abstract

Background: Congenital disorders of glycosylation (CDG) form a group of inherited metabolic diseases. Although the clinical presentation shows extreme variability, the nervous system is frequently affected. Several parents of our patients diagnosed with CDG reported behavioral problems, including mood swings, depressive behavior, and anxiety. This raised the question whether patients with CDG have an increased risk for socio-emotional problems.Methods: We evaluated 18 children with confirmed CDG. The Child Behavior Checklist (CBCL) was used to screen for socio-emotional problems. To determine the disease progression and severity in CDG, the Nijmegen Paediatric CDG Rating Scale (NPCRS) was used. Results were compared to "norm scores" and to children with mitochondrial disorders and children with other chronic metabolic disorders with multisystem involvement.Results: Results showed a high prevalence of socioemotional problems in children with CDG. Mean total scores, scores on withdrawn/depressed behavior, social problems, and somatic complaints were significantly increased. More than two thirds of our CDG patients have abnormal scores on CBCL. The mean score on social problems was significantly higher compared to our two control groups of patients with other chronic metabolic disorders.Conclusions: Patients with CDG have an increased risk of developing socio-emotional problems. A standard screening for psychological problems is recommended for the early detection of psychological problems in CDG patients.

The aim of this study was to investigate how breast cancer follow-up in the Netherlands changed during the COVID-19 pandemic, compared to 2018-2019, and to what extent follow-up during the pandemic corresponded to the patient risk of recurrence. During the early phase of the pandemic the Dutch Society for Surgical Oncology (NVCO) issued a report with recommendations on how follow-up could be postponed, as a guidance for the pandemic, based on a low, intermediate or high risk of recurrence. In this study we investigated to what extent this advice was followed. A dataset of 33160 women diagnosed with primary invasive breast cancer between January of 2017 and July of 2021 was selected from the Netherlands Cancer Registry (NCR) and Dutch Hospital Data (DHD). The pandemic, 2020 and weeks 1-32 of 2021, was divided into six periods (A to F), based on the number of hospitalized COVID patients in the Netherlands. The five-year risk of locoregional recurrence (LRR) was determined for each patient with the INFLUENCE nomogram. The LRR risk was compared to the risk groups from the NVCO report with a Kruskal-Wallis test. The percentage of patients who received a mammogram during period A to F was compared to the same periods of 2018-2019 with a chi-squared test. Correlation between the LRR risk, and if patients had a mammogram, was investigated with logistic regression. This analysis was repeated separately for the risk groups. Correlation between the LRR risk, and time intervals between surgery and the first and second mammogram was analyzed using cox proportional hazard models, this was also repeated for the risk groups. There was a significant difference in LRR risk between the NVCO risk groups. In the low-risk group (n=7673), 86 patients (1.1%) had a risk >5%. In the intermediate risk group (n=19197), 18364 patients (95.7%) had a risk of < 5%, and 65 patients (0.34%) had a risk of >10%. In the high-risk group (n=2674), 2365 patients (88.4%) had a risk < 10%. The percentage of patients who received a mammogram was significantly lower in periods B to F of the pandemic. Logistic regression showed a negative correlation between the risk of LRR and if patients had a mammogram in 2020 (OR 0.93) and 2021 (OR 0.93). There was also a negative correlation between the risk groups and mammography in 2020 (OR 0.92 for intermediate and 0.80 for high), and for the risk groups and mammography in 2021 (OR 0.98 for intermediate and 0.95 for high). There was no significant impact of LRR risk, or risk group, on time intervals between mammograms. During the pandemic, patients with a higher LRR risk, or a higher risk according to NVCO advice, had lower odds of having a mammogram. If the advice would have been followed, in 0.5% of the patients scheduled for follow-up, the recommendation was to postpone in contrast to a high estimation of the individual risk. For 62.7%, a follow-up was recommended, despite a low estimated individuals risk. Because the number of high-risk patients is relatively low, individual risk prediction could be supportive, in case of future restrictions. This way the high-risk patients can be identified and prioritized for follow-up, and can also be encouraged to come to the hospital. Citation Format: Lotte Van Dongen, Joyce Meijer, Jolanda Van Hoeve, Desiree van den Bongard, Marielle Hendriks, Aafke Honkoop, Luc Strobbe, Cristina Guerrero Paez, Sabine Siesling. Follow-up in breast cancer care: guidelines and individual risks [abstract]. In: Proceedings of the 2022 San Antonio Breast Cancer Symposium; 2022 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2023;83(5 Suppl):Abstract nr P4-07-17.