The aim of this study is to define a core outcome set (COS) to allow consistency in outcome reporting amongst studies investigating the management of orthopaedic treatment in children with spinal dysraphism (SD).

Spinal dysraphism occurs due to incomplete fusion of the midline mesenchymal, bony, or neural elements of the spine. The defects in the spinal cord can be associated with skin lesion since both have same embryonic origin.

Occult spinal dysraphism (OSD) is the most common congenital spinal anomaly. Cutaneous anomalies such as skin dimples or deviated gluteal folds are well known as stigmata of OSD and are indicators for further evaluation; however, the association between cutaneous anomalies and OSD has not been systemically evaluated.

To investigate the effect of somatic, postzygotic, gain-of-function mutation of Endothelial Per-Arnt-Sim (PAS) domain protein 1 (EPAS1) encoding hypoxia-inducible factor-2α (HIF-2α) on posterior fossa development and spinal dysraphism in EPAS1 gain-of-function syndrome, which consists of multiple paragangliomas, somatostatinoma, and polycythemia.

We performed a systematic review and meta-analysis on the incidence of secondary tethered spinal cord (TSC) between prenatal and postnatal closure in patients with MMC. The objectives was to understand the incidence of secondary TSC after prenatal surgery for MMC compared to postnatal surgery for MMC.

Frailty is a condition characterized by a high vulnerability to low-power stressor. Frailty increases with age and is associated with higher complications and mortality. Several indexes have been used to quantify frailty. Spine diseases, both degenerative and oncologic, frequently require surgery which is related to complications and mortality. Aim of the present systematic review was to collect the most frequently used frailty indexes in clinics to predict surgical outcomes in patients affected by spine diseases, taking into account gender differences. Three databases were employed, and 29 retrospective clinical studies were included in this systematic review. The identified spine pathologies were primary and metastatic spine tumors, adult spine deformity (ASD), degenerative spine disease (DSD), cervical deformity (CD) and other pathologies that affected lumbar spine or multiple spine levels. Eleven indexes were identified: modified Frailty Index (mFI), Adult spinal deformity frailty index (ASD-FI), mFI-5, Metastatic Spinal Tumor Frailty Index (MSTFI), Fried criteria, Cervical deformity frailty index (CD-FI), Spinal tumor frailty index (STFI), Frailty Phenotype criteria (FP), Frailty Index (FI), FRAIL scale and Modified CD-FI (mCD-FI). All these indexes correlated well with minor and major postoperative complications, mortality and length of stay in hospital. Results on gender differences and frailty are still conflicting, although few studies show that women are more likely to develop frailty and more complications in the post-operative period than men. This systematic review could help the surgeon in the adoption of frailty indexes, before the operation, and in preventing complications in frail patients.

Neurogenic/neuropathic bowel dysfunction (NBD) is common in children who are affected by congenital and acquired neurological disease, and negatively impacts quality of life. In the past, NBD received less attention than neurogenic bladder, generally being considered only in spina bifida (the most common cause of pediatric NBD). Many methods of conservative and medical management of NBD are reported, including relatively recently Transanal Irrigation (TAI). Based on the literature and personal experience, an expert group (pediatric urologists/surgeons/gastroenterologists with specific experience in NBD) focused on NBD in children and adolescents. A statement document was created using a modified Delphi method. The range of causes of pediatric NBD are discussed in this paper. The various therapeutic approaches are presented to improve clinical management. The population of children and adolescents with NBD is increasing, due both to the higher survival rate and better diagnosis. While NBD is relatively predictable in producing either constipation or fecal incontinence, or both, its various effects on each patient will depend on a wide range of underlying causes and accompanying comorbidities. For this reason, management of NBD should be tailored individually with a combined multidisciplinary therapy appropriate for the status of the affected child and caregivers.

Open spina bifida (OSB) is one of the most common congenital central nervous system defects and leads to long-term physical and cognitive disabilities. Open fetal surgery for OSB improves neurological outcomes and reduces the need for ventriculoperitoneal shunting, compared to postnatal surgery, but is associated with a significant risk of prematurity and maternal morbidity. Fetoscopic surgery comes with less maternal morbidity, yet the question remains whether the procedure is neuroprotective and reduces prematurity. Comparison of outcomes between different treatment options is challenging due to inconsistent outcome reporting. We aim to develop and disseminate a core outcome set (COS) for fetal OSB, to ensure that outcomes relevant to all stakeholders are collected and reported in a standardised fashion in future studies.

An estimated 60% of the world's population lives in Asia, where the incidence of neural tube defects is high. Aware that tethered cord syndrome (TCS) is an important comorbidity, the purpose of this systematic review was to explore the treatment of TCS among individuals living with spina bifida (SB) in Asia. MEDLINE and Embase databases were searched for relevant studies published from January 2000 to June 2018. Search terms such as 'spinal dysraphism,' 'spinabifida,' 'diastematomyelia,' 'lipomeningocele,' 'lypomyelomeningocele,' 'meningomyelocele,' and 'tethered cord syndrome' were used in diverse combinations. Of the 1,290 articles that were identified in accordance with PRISMA (Preferred Items for Systematic Reviews and Meta-Analyses) guidelines, 15 Asia-based studies met the inclusion criteria. Significant differences in the diagnostic criteria and management of TCS were documented. As the surgical techniques for prenatal closure of the spinal defect continue to evolve, their adoption internationally is likely to continue. In this setting, a clear and evidence-based approach to the definition and management of TCS is essential. The recent publication by the Spina Bifida Association of America of their updated care guidelines may serve as a tool used to promote a systematized approach to diagnosing and treating TCS among individuals with SB in the region, as well as globally.

Neural tube defects (NTDs) is a general term for central nervous system malformations secondary to a failure of closure or development of the neural tube. The resulting pathologies may involve the brain, spinal cord and/or vertebral column, in addition to associated structures such as soft tissue or skin. The condition is reported among the more common birth defects in humans, leading to significant infant morbidity and mortality. The etiology remains poorly understood but genetic, nutritional, environmental factors, or a combination of these, are known to play a role in the development of NTDs. The variable conditions associated with NTDs occur naturally in dogs, and have been previously reported in the Weimaraner breed. Taking advantage of the strong linkage-disequilibrium within dog breeds we performed genome-wide association analysis and mapped a genomic region for spinal dysraphism, a presumed NTD, using 4 affected and 96 unaffected Weimaraners. The associated region on canine chromosome 8 (pgenome  =3.0 × 10(-5)), after 100,000 permutations, encodes 18 genes, including NKX2-8, a homeobox gene which is expressed in the developing neural tube. Sequencing NKX2-8 in affected Weimaraners revealed a G to AA frameshift mutation within exon 2 of the gene, resulting in a premature stop codon that is predicted to produce a truncated protein. The exons of NKX2-8 were sequenced in human patients with spina bifida and rare variants (rs61755040 and rs10135525) were found to be significantly over-represented (p=0.036). This is the first documentation of a potential role for NKX2-8 in the etiology of NTDs, made possible by investigating the molecular basis of naturally occurring mutations in dogs.

Physical activity in the early years is necessary for setting the foundation for healthy growth and development in later childhood and adolescence. While most published evidence to date focuses on typically developing children, prevalence rates of physical activity among children with disabilities have been less studied. This protocol paper documents the plan of a systematic review, which aims to synthesise the evidence regarding physical activity levels among young children with disabilities.