The effectiveness and safety of centralized early rehabilitation care for critically ill children with severe acquired brain injury: A retrospective cohort and implementation study.

BACKGROUND: Most children with neurocritical illness are at risk of physical, neurocognitive, and psychosocial sequelae and need centralized early rehabilitation care. OBJECTIVE: To identify the effectiveness and safety of centralized early rehabilitation care for children with severe acquired brain injury. METHODS: This is a mixed methods study-an implementation study and single-center retrospective cohort study with historical control. All children with severe acquired brain injury hospitalized in a specialized rehabilitation center in a comprehensive tertiary pediatric hospital between September 2016 and August 2020 were included. Patients treated in the centralized early rehabilitation unit were compared to historical controls dispersed in the normal inpatient rehabilitation ward. The effectiveness outcomes were measured by the Pediatric Cerebral Performance Category (PCPC) scale and the incidence of newly onset comorbidities. The safety outcomes were indicated by the mortality rate and the incidence of unexpected referrals. RESULTS: One hundred seventy-five patients were included. The delta PCPC scores of the first 4 weeks of inpatient rehabilitation in the intervention group were significantly lower than the control group (Z = -2.395, p = 0.017). The PCPC scores at 1 year in the intervention group were significantly reduced as compared to the control group (Z = -3.337, p = 0.001). The incidence of newly onset pneumonia/bronchitis was also decreased in the intervention group (χ2 = 4.517, p = 0.034). No death of patients was recorded, and there was no significant difference in unexpected referral rate between the two groups (χ2 = 0.374, p = 0.541). CONCLUSIONS: The centralized pediatrics early rehabilitation unit is effective and safe for children with severe acquired brain injury. Further multicenter prospective implementation studies on effectiveness, safety, and economic evaluation are needed.

Differentiating Meniere's Disease and Vestibular Migraine: Insights from Gadolinium-Enhanced Magnetic Resonance Imaging and Clinical Features.

OBJECTIVE: To explore the predictive factors between Meniere's disease (MD) and vestibular migraine (VM) by Gadolinium-enhanced Magnetic resonance imaging (MRI) of the inner ear and Clinical Features. METHODS: Eighty-seven patients (50 MD and 37 VM) underwent intratympanic injection of gadolinium and MRI was performed 24 h later. All patients underwent pure tone audiometry and caloric tests. RESULTS: In the MD group, 46 (92%) of 50 patients developed endolymphatic hydrops, although only 2 (5.4%) in the vestibular migraine (VM) group had positive results groups (p < 0.001). The incidence of migraine was 14% in the MD group and 67.7% in the VM group (p < 0.001). Multivariate logistic regression of the two groups of patients indicated that the greater the sum of the maximum slow phase velocity (SPV) of the ipsilateral ear, the higher the risk of VM occurrence (p = 0.009). The incidence of carsickness was positively correlated with the incidence of VM (p < 0.001) and asymmetric hearing loss (AHL) was negatively correlated with the diagnosis of VM (p = 0.045). CONCLUSION: Gadolinium-enhanced MRI of the inner ear is helpful for the differential diagnosis of VM and MD. Carsickness, decreased AHL, and increased Sum of the maximum SPV in the ipsilateral side (SSPVI) may act as diagnostic predictors of VM. LEVEL OF EVIDENCE: 3 Laryngoscope, 134:426-432, 2024.

Implementation of early rehabilitation for critically ill children in China: A survey and narrative review of the literature.

Introduction: The focus of this survey was to understand the current status of implementation of early rehabilitation for critically ill children in China. We also reviewed the available literature on this topic for further insights to inform its future development. Materials and methods: We used a cross-sectional study design to survey tertiary hospitals nationwide. Questionnaires were distributed via the social media platform "WeChat Questionnaire Star" within the framework of the Rehabilitation Group of the Pediatrics Branch of the Chinese Medical Association. A narrative literature review on the implementation of the early rehabilitation for critically ill pediatric and/or adult patients was carried out. Results: A total of 202 valid questionnaires were received. About half (n = 105, 52.0%) of respondent hospitals reported that they implement early rehabilitation for critically ill children. Among these 105 hospitals, 28 implemented a continuous chain of early rehabilitation. A total of 24 hospitals had set up permanent specialized centralized early rehabilitation units for critically ill children. Implications and future directions: Early rehabilitation for critically ill children is not widely available in China and only a minority of hospitals implement a continuous chain of early rehabilitation. To improve this undesirable situation, we suggest creating a two-level integrated system comprising centralized early rehabilitation units and surrounding early rehabilitation networks within a region.

Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects.

BACKGROUND: Kleefstra syndrome type 1 (KS1, OMIM#610253) is a rare autosomal-dominant Mendelian disorder due to heterozygous mutations in the EHMT1 gene or heterozygous deletion of genomic segment of 9q34.3(9qdel). Neurodevelopmental disorder (NDD), intellectual disability (ID) and childhood-onset hypotonia are the well-known phenotypes of KS1. However, these findings were all investigated based on western patients with KS1. METHODS: KS1 patients were diagnosed by genetic tests. The clinical data was collected and the phenotypes were standardized by compared with patients that previously reported. In silico, conservational and protein structural analysis were performed to assessment the missense variants. RESULTS: Ten patients from unrelated families were diagnosed as KS1, who all had NDD and seven of them had global developmental delay (GDD) with significant personal-social disabilities. Among the ten patients, only one (1/10) patient showed neonatal or infantile obesity. The other nine patients were heterozygous variations, including three missense mutations (p.Glu235Gly, p.Asp903Gly, and p.Leu943Pro), three frameshifting mutations (p.Asn1106Lysfs*71, p.Asn1055Tyrfs*121, and p.Lys288Argfs*20), one nonsense mutation (p.Arg246*), one slice site mutation (c.3540+2T > C) and one 9q34.3 deletion in gene of EHMT1. Furthermore, missense mutations showed potential pathogenicity analyzed by in silico. CONCLUSION: We demonstrated that the clinical features in Chinese patients with KS1 were due to EHMT1 defects. We also reported seven novel variants which enriched the mutation spectrum and provided a good understanding of the pathogenesis of KS1.

Clinical features and partial proportional molecular genetics in neonatal diabetes mellitus: a retrospective analysis in southwestern China.

PURPOSE: To explore the relationship of phenotype and genotype of neonatal diabetes mellitus (NDM) in southwestern China. METHODS: Sixteen cases of NDM admitted to Children's Hospital of Chongqing Medical University from May 2009 to May 2019 were included in this study. The clinical features of the included infants were retrospectively analyzed. Peripheral blood samples of the patients and their parents were collected for mutation detection. RESULTS: Among the 16 cases of NDM, 8 cases were permanent neonatal diabetes mellitus (PNDM) (including 3 clinical syndromes), and 3 cases were transient neonatal diabetes mellitus (TNDM). Mutation detection was performed in six cases. The mutation genes and their loci were FOXP3 p.V408M, KCNJ11 p.C166Y, ABCC8 p.S830P, KCNJ11 p.I182T, KCNJ11 p.G334D, and ZFP57 p.R125X,412. ABCC8 p.S830P was the new found pathogenic site of gene mutation. According to the clinical features and follow-up results, one case was diagnosed as IPEX syndrome, two as DEND syndrome, two as simple PNDM, and one as TNDM. All the TNDM could spontaneously alleviate and then insulin was withdrawn. In PNDM, 75% of those with KATP channel gene mutation could be completely or partially converted to oral sulfonylureas treatment, however, the rest cases needed lifelong insulin replacement therapy. CONCLUSION: The clinical manifestations and treatment regimens of patients with NDM vary according to the type of gene mutation. Even the same mutant genotype has differences in phenotype and response to treatment.