A 2-year-old girl, diagnosed with traumatic brain injury and epilepsy following car trauma, was followed up for 3 years (a total of 15 recordings taken at 0, 2, 3, 4, 5, 6, 7, 9, 10, 11, 12, 14, 19, 26, and 35 months). There is still no clear guidance on the diagnosis, treatment, and prognosis of children with disorders of consciousness. At each appointment, recordings included the childs height, weight, pediatric Glasgow Coma Scale (pGCS), Coma Recovery Scale-Revised (CRS-R), Gesell Developmental Schedule, computed tomography or magnetic resonance imaging, electroencephalogram, frequency of seizures, oral antiepileptic drugs, stimulation with subjects own name (SON), and median nerve electrical stimulation (MNS). Growth and development were deemed appropriate for the age of the child. The pGCS and Gesell Developmental Schedule provided a comprehensive assessment of consciousness and mental development; the weighted Phase Lag Index (wPLI ) in the β-band (1325Hz) can distinguish unresponsive wakefulness syndrome from minimally conscious state and confirm that the SON and MNS were effective. The continuous increase of delta-band power indicates a poor prognosis. Interictal epileptiform discharges (IEDs) have a cumulative effect and seizures seriously affect the prognosis.

Background: Cohen syndrome (OMIM No. # 216550) is a rare autosomal recessive disorder caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (VPS13B) gene on chromosome 8q22.2. Clinical manifestations include hypermobile joints, microcephaly, intellectual disabilities, craniofacial and limb anomalies, and neutropenia. To date, more than 200 mutations of VPS13B have been reported in over 1,000 Cohen syndrome patients. This article reviews the clinical data of two cases of Cohen syndrome diagnosed by whole exome sequencing. Results: Both children visited for psychomotor retardation. Gene detection showed a mutation in 8q22.2, NM_017890.4 Intron38 c.6940+1G > T and heterozygotic deletion of exon 3-19 of the VPS13B gene (Case 1), and a mutation in 8q22.2, NM_017890.4 Intron38 c.6940+1G > T and 8q22, NM_017890.4 Exon56 c10334_10335del in the VPS13B gene (Case 2). The variation was predicted to be pathogenic by related software, and they have not been reported. Conclusion: Cohen syndrome should be considered in the differential diagnosis of any child with developmental retardation and neutropenia. The present study increases the mutation spectrum of the VPS13B gene and could be helpful in genetic diagnosis and genetic counseling in Cohen syndrome patients.

Background: Children with prolonged disorders of consciousness experience severe intellectual and behavioral disabilities that will last for decades or even a lifetime. Parents generally experience severe anxiety, stress, sadness, or family conflicts, which can lead to abnormal parenting behavior and can, in turn, adversely affect the cognitive, emotional, and behavioral well-being of the children. This causes a serious burden on children, families, and society. Psychological interventions targeting parents using online conversations provide an opportunity to improve the overall well-being of the parents, their children, and the family as a whole.Methods: A total of 13 patients completed the protocol. Six were girls (46.2%), the mean age was 4.5 ± 3.0 years, and the length of time before emergent from minimally consciousness state was 244 ± 235 days. A staff member with psychological counseling qualifications implemented all psychological interventions. Regular online psychological interventions were performed annually before and after discharge. Evaluation data were collected before discharge and at 1 and 3–5 years post-discharge.Results: With the extension of intervention time, the Strengths and Difficulties Questionnaire, the Depression Anxiety and Stress Scale-21, and the Parenting Sense of Competence Scale scores showed significant improvement (p < 0.05), while the Revised Scale for Caregiving Self-Efficacy scores did not. With the extension of intervention time, the Strengths and Difficulties Questionnaire (Total Difficulties scores, TD) scores showed significant improvement (p < 0.05), while the scores did not after 1 year compared with before intervention. The Index of Child Care Environment evaluation scores declined significantly (p < 0.05).Conclusion: Psychological interventions aimed at the parents of children with prolonged disorders of consciousness performed at least once per year resulted in significant improvements in negative parental emotions, parental self-efficacy, and emotional and behavioral problems in their children. However, the childcare environment continued to decline.