Neurocutaneous melanosis (NCM) and Dandy-Walker malformation (DWM) are both uncommon congenital condition, involving the central nervous system (CNS). Combined NCM with DWM have been reported in a few studies. Potential consequences, including hydrocephalus and CNS malignancies make these illnesses extremely challenging to diagnose and treat. Occurrences of NCM and DWM together, can result in progressive neurological consequences and patients with this condition seems to have really poor prognosis. This case report describes a 5-day-old girl who was born with several large pigmented cutaneous nevi all over her body. She was born at term to non-consanguineous parents who had no family history of similar conditions. Imaging studies, such as brain CT scan, showed cystic dilatation of the fourth ventricle, hypoplasia of the cerebellar vermis, enlargement of the posterior fossa, and possibly secondary hydrocephalus-all of which are indicative of DWM. A biopsy of the nevi confirmed NCM. The patient had no neurological symptoms or systemic complications at the time of presentation. The combination of NCM and DWM is extremely rare, with fewer than 40 reported cases so far. While the exact connection between these two conditions is not fully understood, their coexistence of these conditions might be linked to their shared embryonic origin. Both melanocytes and parts of the CNS come from the neural crest during early development. Since these conditions can have serious neurological and systemic effects, managing them requires multidisciplinary care because of potential consequences of these disorders.
Objectives:This study aimed to develop a structured, culturally responsive neurodevelopmental care framework for preterm infants during the first three months following the neonatal intensive care unit (NICU) discharge, based on research evidence and multidisciplinary expert consensus in Iran. Materials & Methods:A two-phase study was conducted. First, a scoping review (2000-2024) identified key domains and items for post-discharge care. Second, a panel of 24 multidisciplinary experts completed a two-round Delphi survey. Consensus was defined as 75% agreement or higher and a mean Likert score of 3.75 or above on a five-point scale. Quantitative and qualitative analyses were performed in accordance with Delphi study guidelines. Results:The finalized framework comprises 57 items categorized across eight primary domains. Expert agreement ranged from 87% to 95%, with mean Likert scores ranging from 4.42 to 4.65. Positioning and postural care showed the highest agreement (95% t, mean = 4.57). Experts emphasized continuity of care, parent-mediated interventions, and integration of developmental, emotional, and environmental components. Conclusion:This culturally adapted, family-centered framework provides structured post-discharge neurodevelopmental care for preterm infants. It promotes infants' motor, sensory, cognitive, and emotional development while supporting parental empowerment and psychological well-being, potentially optimizing early neurodevelopmental outcomes in home-based care settings.
Objective:Spinal muscular atrophy (SMA) involves the survival motor neuron (SMN) 1 gene, leading to motor neuron degeneration. SMN2 is a homologous gene to SMN1, which can produce SMN protein at lower levels. The new gene-based drugs modify SMN2 pre-messenger RNA splicing, leading to production of functional SMN protein. Materials & Methods:This study aimed to evaluate the effectiveness and safety of Risdiplam and Nusinersen in patients with SMA types I-III. Hammersmith Functional Motor Scale-Expanded (HFMSE) was used for motor evaluation. Results:Results revealed that changes were significant after six months (p< 0.001). Improvements were compared between the two drugs, age groups, and SMA disease types, and no significant differences were found. No severe side effects were experienced and only a few patients reported headaches, and backaches following Nusinersen. Conclusion:both Risdiplam and Nusinersen led to significant improvements in motor function; however, based on cost-effectiveness considerations, we recommend Risdiplam.
Objective:Developmental Coordination Disorder (DCD) affects 5-6% of school-aged children, impairing motor control and coordination. This systematic review and meta-analysis examines the effectiveness of coordination exercises on improving hand function in individuals with DCD. Methods:A comprehensive search was conducted across four databases: Scopus, PubMed, PEDro, and The Cochrane Library for interventional trials published between 2010 and April 2025. PRISMA guidelines were followed for the review, and the methodological quality of studies was assessed using the PEDro scale, GRADE system, Risk of Bias, and Level of Evidence. A random-effects model was used for meta-analysis, calculating standardized mean differences (SMD) with 95% confidence intervals (CI). Results:Seven studies involving 361 children with DCD were included. Meta-analysis revealed a large effect of coordination exercises on hand function compared to control interventions (SMD = 1.13, 95% CI: 0.31 to 1.95, p = 0.0066). Interventions such as haptic perception training, adapted Taekwondo, gaze training, and pegboard tasks showed consistent improvements in fine motor skills. However, moderate-to-high heterogeneity was observed (I² = 70.8%), with sensitivity analysis revealing that two studies contributed over 90% of the total weight. Conclusion:Coordination exercises significantly improve hand function in individuals with DCD, showing a large effect size. These exercises are effective in enhancing fine motor skills and manual dexterity.
Objectives:As permanent hearing loss is irreversible, individuals often rely on hearing aids or cochlear implants as effective rehabilitation solutions. Stem cell therapy has been used this disability at the level of preclinical studies and effectiveness has not been determined to improve of auditory brainstem response (ABR) and restore damaged hair cells of cochlea. This systematic review shows the role of stem cell injection on ABR threshold changes in noise induced hearing loss (NIHL) models. Materials & Methods:Search strategies for Embase, PubMed, and Web of Science were performed based on keywords stem cell, hearing loss, and noise from 2000 to 2024. Nine studies were evaluated for study variables and risk of bias, and only six studies were analyzed to estimate effect size of auditory threshold. Results:The broadband noise was the most common noise to create NIHL model. The improvement of ABR threshold was estimated -2.46, 95% (CI: -3.26, -1.66) after stem cell injection. Significant mean differences were observed in ABR-threshold for local injection (n = 148) and mesenchymal stem cell (MSC) injection (n = 129) with high heterogeneity between studies. Conclusion:According to high heterogeneity between studies, it may be concluded that MSC, systemic injection, and human-derived cells are effective in recovery of auditory brainstem function.
