VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.

Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. To date, only eight types of allelic variants in VAMP1 gene have been reported in 12 cases of CMS-25. Here, we report on an 8-year-old boy with motor developmental delay, axial hypotonia, myopathic face, muscle weakness, strabismus, ptosis, pectus carinatum, kyphoscoliosis, joint contractures, joint laxity, seizures, and recurrent nephrolithiasis. He also had feeding difficulties and recurrent aspiration pneumonia. Brain magnetic resonance imaging at 20 months of age showed left focal cerebellar hypoplasia. Genetic analysis revealed a homozygous missense variant of c.202C > T (p.Arg68Ter) in the VAMP1 gene. Treatment with oral pyridostigmine was started, which resulted in mild improvement in muscle strength. Salbutamol syrup was added a few months later, but no significant improvement was observed. This case report presents novel findings such as focal cerebellar hypoplasia and nephrolithiasis in VAMP1-related CMS-25. Consequently, this case report extends the clinical spectrum. Further studies are needed to expand the genotype-phenotype correlations in VAMP1-related CMS-25.

Indications and practice of home invasive mechanical ventilation in children.

BACKGROUND: Developments and technological advances in neonatal and pediatric intensive care units have led to a prolonged life expectancy of pediatric patients with chronic respiratory failure. Therefore, the number of hemodynamically stable pediatric patients with chronic respiratory failure who need mechanical ventilator assistance throughout the day has significantly increased. AIMS: Numerous conditions, including parenchymal lung diseases, airway disorders, neuromotor disorders, or respiratory defects, can lead to chronic respiratory failure. For individuals who cannot tolerate non-invasive mechanical ventilation (NIMV), invasive mechanical ventilation (IMV) is the only suitable choice. Due to increasing need, mechanical ventilator technology is continuously evolving. RESULTS: As a result of this process, home-type mechanical ventilators have been produced for patients requiring long-term IMV. Patients with chronic respiratory failure can be safely monitored at home with these ventilators. DISCUSSION: Home follow-up of these patients has many benefits such as an increase in general quality of life and a positive contribution to their emotional and cognitive development. CONCLUSION: In this compilation, indications for home-based IMV, features of home invasive mechanical ventilators (HMVs), patient monitoring, and the detailed advantages of using IMV at home will be elucidated.

Psychosocial factors affecting the quality of life of parents who have children with home mechanical ventilation.

INTRODUCTION: Most children with medical complexity have to live with home mechanical ventilation (HMV). Undertaking the care of a child with HMV creates a psychosocial burden on parents. This study investigated the impact of selected potential determinants on the quality of life of parents who have children with HMV. METHODS: A cross-sectional survey study was conducted using a structured questionnaire to determine the sociodemographic characteristics of the parents. The World Health Organization Quality of Life Assessment-Brief version, the Beck Depression Inventory (BDI), and the Multidimensional Scale of Perceived Social Support were applied. RESULTS: A total of 35 participants responded to the questionnaires. Paired data from mothers and fathers were obtained from 12 families. A moderately significant positive correlation was found between the perceived social support levels of the parents and all domains of the quality of life scale (for the physical domain: r = .455, p = .006; for the psychological domain: r = .549, p = .001; for the social domain: r = .726, p = .000; and for the environment domain: r = .442, p = .008). A moderate negative relationship was found between parents' perceived social support levels and BDI scores (r = -.557, p = .001). The multivariate regression analysis determined that being a mother, quitting a job to become a caregiver, being the only caregiver at home, and having a neurological/neuromuscular disease as the primary disease of the child were associated with lower scores in more than one quality of life domain. CONCLUSION: Our results emphasize that appropriate social support is important for improving the quality of life scores of parents of children with HMV.