Carmen Sandu

Background: Autoimmune encephalitis (AE) is an increasingly well recognized disorder in the past decade both in adults and in children, yet pediatric data are still limited. A full peripheral blood cell count is a routine examination that provides valuable information regarding the immune system. Thus, there are peripheral blood cell count (PBCC)-derived ratios that reflect systemic inflammatory activity and they have been associated with disease severity in adults: the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), monocyte-to-lymphocyte ratio (MLR), systemic immune–inflammation index (SII), systemic inflammation response index (SIRI), and aggregate index of systemic inflammation (AISI). Methods: This study is a retrospective chart review of children under 18 years diagnosed with definite or probable AE and treated in our institution from 1 January 2018 until 1 December 2025. Only patients with available PBCC results at the time of the first hospital admission after neurological/psychiatric symptom onset were included. An age-matched control group was created by selecting the results of PBCC of patients presenting for routine pediatric follow-ups with normal inflammatory and hematologic parameters. The group means were compared using an independent-samples t-test or the Mann–Whitney U test for non-normally distributed data. Analysis of the receiver operating characteristics curve (ROC curve) was conducted, followed by the area under the curve ROC curve (AUC). Results: A total of 45 children with AE and 150 controls were included in the study. Of these, 22 patients (49%) had probable AE and 23 patients (51%) had definite AE. The NLR, PLR, SII, SIRI and AISI values were significantly higher in AE patients compared with the controls, but the AUC values (~0.58–0.66) indicate poor-to-fair discriminative ability. Youden’s index-based cut-off values were associated with high specificity and modest sensitivity. The likelihood ratios in the range of 2–3 (LR+) and 0.6–0.7 (LR−) suggest weak rule-in capacity and limited rule-out utility. Conclusions: Our results suggest that at the time of the initial hospitalization, children with AE already show altered peripheral immune cell profiles compared to their age-matched peers. The high specificity and the low sensitivity of the inflammatory indices make them more suitable for supporting the AE diagnosis in suggestive clinical circumstances, but not for screening. These results represent a foundation for further investigation of the roles that these indices have both as diagnostic and prognostic factors for these children.

Background: Autoimmune encephalitis (AE) is an increasingly well recognized disorder in the past decade both in adults and in children, yet pediatric data are still limited. A full peripheral blood cell count is a routine examination that provides valuable information regarding the immune system. Thus, there are peripheral blood cell count (PBCC)- derived ratios that reflect systemic inflammatory activity and have been associated with disease severity in adults: neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratios (PLR), monocyte-to-lymphocyte ratio (MLR), systemic immune-inflammation index (SII), systemic inflammation response index (SIRI), aggregate index of systemic inflammation (AISI). Methods: This study is a retrospective chart review of children under 18 years diagnosed with definite or probable AE and treated in our institution from January 1, 2018 until December 1, 2025. Only patients with available PBCC results prior to any immunomodulatory therapy were included. An age-matched control group was created by selecting results of PBCC of patients presenting for routine pediatric follow-ups with normal inflammatory and hematologic parameters. Group means were compared using independent samples t-test or the Mann Whitney U test for non-normally distributed data. Analysis of the receiver operating characteristics curve (ROC curve) was conducted followed by the area under the curve ROC curve (AUC). Results: 45 children with AE and 150 controls were included in the study. NLR, PLR, SII, SIRI and AISI values were significantly higher in AE patients compared with controls, suggesting an overall pro-inflammatory profile at presentation. Concerning the platelet indices, a trend tower higher medium platelet volume and platecrit was observed in the AE group. These findings point to distinct peripheral immune alterations in pediatric AE, consistent with reports in adult patients. Conclusions: Our results suggest that at the time of the initial hospitalization, children with AE already show altered peripheral immune cell profiles compared to their age-matched peers The high specificity and the low sensitivity of the inflammatory indices make them more suitable for supporting the AE diagnosis in suggestive clinical circumstances, but not for screening. These results represent a foundation for further investigating the roles that these indices have both as diagnostic and prognostic factors for these children.

Background: Duchenne/Becker muscular dystrophy (DMD/BMD) is associated with a wide spectrum of brain-related comorbidities. Methods: This retrospective study assesses the neuropsychiatric profile of DMD/BMD patients and the hypothesis of a functional-versus-structural approach of dystrophin gene variants/impaired isoforms in relation to brain comorbidities. Patients with documented mutation in the DMD gene and neuropsychiatric assessments were included. Seven comorbidities were analyzed based on variant location and dystrophin brain isoform disruption. The clustering of comorbidities and genotype–phenotype correlations were studied. Results: 264 DMD/BMD patients met inclusion criteria. 22 variants have never been described before. A high prevalence of neuropsychiatric comorbidities was identified in the cohort with higher values in patients with distal mutations. The number of comorbidities increased with the number of brain dystrophin isoforms predicted to be lost. Functional-versus-structural comparison revealed that Dp140 5′UTR variants might not affect protein expression. Epilepsy and intellectual disability (ID) showed significant association in this cohort. Neuropsychiatric phenotype varied greatly in patients with identical variants, even between siblings. Conclusions: This is one of the largest European cohorts for which all these comorbidities were studied in association with DMD gene mutation site and the first study of this kind performed on the Eastern European DMD/BMD population. Our group analyzed, for the first time, Dp140 5′UTR variants in relation to all neuropsychiatric phenotypes and showed that epilepsy and ID are strongly associated in DMD/DMB patients.