Total Energy Expenditure and Body Composition of Children with Developmental Disabilities

Background Obesity prevalence is increased in children with developmental disabilities, specifically in children with spina bifida and Down syndrome. Energy expenditure, a critical aspect of weight management, has been extensively studied in the typically developing population, but not adequately studied in children with developmental disabilities. Objective Determine energy expenditure, fat-free mass and body fat percentile and the impact of these findings on recommended caloric intake in children with spina bifida and Down syndrome. Methods/Measures This pilot study included 36 children, 18 with spina bifida, 9 with Down syndrome and 9 typically developing children. Half of the children with spina bifida were non-ambulatory. Doubly labeled water was used to measure energy expenditure and body composition. Descriptive statistics described the sample and MANOVA and ANOVA methods were used to evaluate differences between groups. Results Energy expenditure was significantly less for children with spina bifida who primarily used a wheelchair (p = .001) and children with Down syndrome (p = .041) when compared to children without a disability when adjusted for fat-free mass. However, no significant difference was detected in children with spina bifida who ambulated without assistance (p = .072). Conclusions Children with spina bifida and Down syndrome have a significantly decreased energy expenditure which directly impacts recommended caloric intake. No significant difference was detected for children with spina bifida who ambulated, although the small sample size of this pilot study may have limited these findings. Validating these results in a larger study is integral to supporting successful weight management of these children

A Closer Look at the Global Management of Spina Bifida: The Implementation of Endoscopic Third Ventriculostomy in the Treatment of Spina Bifida-Related Hydrocephalus in Africa

Spina bifida, specifically myelomeningocele, is a debilitating neural tube defect that affects patients and families throughout the world. Traditional management and treatment methods are described, followed by an explanation of why this is often inadequate in providing care for those in impoverished areas of the world, including many regions of Africa. Endoscopic third ventriculostomy is proposed as a promising alternative to traditional methods for treating hydrocephalus, an often associated condition, and the implementation of this treatment method in Africa is explored. In order to relieve Africa of the burden of spina bifida-related hydrocephalus and improve global management of spina bifida, it is imperative that the paucity of neurosurgeons in Africa be addressed and successful models for training be expanded

Transition into adult healthcare services in Scotland –findings from a study concerning service users at the Scottish Spina Bifida Association

Background and Aims: Literature on interventions that enable young people with spina bifida and/or hydrocephalus to have smooth transition, into adult healthcare services, stress the need for the process to start early and to include all family members. The study reported here was set to quantify and articulate the experiences of service users who are or due to be going through the transition process in Scotland today. Methods and Results: Focus group sessions, in the North of Scotland and in the ‘Central Belt’, captured rich qualitative data. A survey, sent to eligible participants on the Spina Bifida National database, offered complimentary data source. Despite the fact that the number of returned questionnaires was low (n = 20), data analysis identified a number of core recurring themes. These include issues concerning Communications, Respect, Choice and Control. Findings suggest that there is a significant chasm between the political rhetoric and the reality faced by young people with spina bifida moving to adult healthcare services. Conclusion: A possible way to facilitate successful transition of young people is using personal healthcare information as the locus for needed change. More research is needed to ascertain whether a ‘Person-Centred Record’, which is set to empower young people on their transition pathway, is an appropriate transition tool

Amniotic fluid brain-specific proteins are biomarkers for spinal cord injury in experimental myelomeningocele

Myelomeningocele (MMC), the most severe form of spina bifida (SB), causes neurological deficit. Injury to the spinal cord is thought to begin in utero. We investigated whether brain-specific proteins (BSPs) would enable us to monitor the development of MMC-related tissue damage during pregnancy in an animal model with naturally occurring SB (curly tail/loop tail mouse; n = 256). Amniotic fluid levels of neurofilament heavy chain (NfH), glial acidic fibrillary protein (GFAP) and S100B were measured by standard ELISA techniques. The amniotic fluid levels of all BSPs were similar in SB and control mice on embryonic day (E) 12.5 and 14.5, whereas a significant increase was observed for GFAP in SB mice on E16.5. Levels of all BSPs were significantly increased in SB mice on E18.5. The rapid increase in GFAP, paralleled by a moderate increase in NfH and S100B, suggests that spinal cord damage starts to accelerate around E16.5. The macroscopic size of the MMC was related to NfH level on E16.5 and E18.5, suggesting that axonal degeneration is most severe in large MMC. Amniotic fluid BSP measurements may provide important information for balancing the risks and benefits to mother and child of in utero surgery for MMC

Spina bifida-predisposing heterozygous mutations in Planar Cell Polarity genes and Zic2 reduce bone mass in young mice

Fractures are a common comorbidity in children with the neural tube defect (NTD) spina bifida. Mutations in the Wnt/planar cell polarity (PCP) pathway contribute to NTDs in humans and mice, but whether this pathway independently determines bone mass is poorly understood. Here, we first confirmed that core Wnt/PCP components are expressed in osteoblasts and osteoclasts in vitro. In vivo, we performed detailed µCT comparisons of bone structure in tibiae from young male mice heterozygous for NTD-associated mutations versus WT littermates. PCP signalling disruption caused by Vangl2 (Vangl2Lp/+) or Celsr1 (Celsr1Crsh/+) mutations significantly reduced trabecular bone mass and distal tibial cortical thickness. NTD-associated mutations in non-PCP transcription factors were also investigated. Pax3 mutation (Pax3Sp2H/+) had minimal effects on bone mass. Zic2 mutation (Zic2Ku/+) significantly altered the position of the tibia/fibula junction and diminished cortical bone in the proximal tibia. Beyond these genes, we bioinformatically documented the known extent of shared genetic networks between NTDs and bone properties. 46 genes involved in neural tube closure are annotated with bone-related ontologies. These findings document shared genetic networks between spina bifida risk and bone structure, including PCP components and Zic2. Genetic variants which predispose to spina bifida may therefore independently diminish bone mass

Parental strees and support of parents of children with spina bifida in Uganda

Background: Children with disabilities in Sub-Saharan Africa depend for a large part of their functioning on their parent or caregiver. This study explores parental stress and support of parents of children with spina bifida in Uganda. Objectives: The study aimed to explore perceived stress and support of parents of children with spina bifida living in Uganda and the factors that influence them. Methods: A total of 134 parents were interviewed. Focus group discussions were held with four parent support groups in four different regions within the country. The Vineland Adaptive Behaviour Scales, Daily Functioning Subscales and Parental Stress Index Short Form (PSI/SF) were administered to measure the child’s daily functioning level and parental stress levels. Results: Parental stress was high in our study population with over half of the parents having a > 90% percentile score on the PSI/SF. Stress outcomes were related to the ability to walk (Spearman’s correlation coefficient [ρ] = −0.245), continence (ρ = −0.182), use of clean intermittent catheterisation (ρ = −0.181) and bowel management (ρ = −0.213), receiving rehabilitative care (ρ = −0.211), household income (ρ = −0.178), geographical region (ρ = −0.203) and having support from another parent in taking care of the child (ρ = −0.234). Linear regression showed parental stress was mostly explained by the child’s inability to walk (β = −0.248), practicing bowel management (β = −0.468) and having another adult to provide support in caring for the child (β = −0.228). Parents in northern Uganda had significantly higher scores compared to parents in other regions (Parental Distress, F = 5.467*; Parent–Child Dysfunctional Interaction, F = 8.815**; Difficult Child score, F = 10.489**). Conclusion: Parents of children with spina bifida experience high levels of stress. To reduce this stress, rehabilitation services should focus on improving mobility. Advocacy to reduce stigmatisation and peer support networks also need to be strengthened and developed. Keywords: Parents; Stress; Spina Bifida; Disability; Afric

Family functioning guidelines for the care of people with spina bifida

Research supports a resilience-disruption model of family functioning in families with a child with spina bifida. Guidelines are warranted to both minimize disruption to the family system and maximize family resilience and adaptation to multiple spina bifida-related and normative stressors. This article discusses the spina bifida family functioning guidelines from the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida, and reviews evidence-based directions with the intention of helping individuals with spina bifida achieve optimal mental health throughout their lifespan. Guidelines address clinical questions pertaining to the impact of having a child with spina bifida on family functioning, resilience and vulnerability factors, parenting behaviors that may facilitate adaptive child outcomes, and appropriate interventions or approaches to promote family functioning. Gaps in the research and future directions are discussed

Thermal structure of the northern outer Albanides and adjacent Adriatic crustal sector, and implications for geothermal energy systems

none8sìopenSantini, S.; Basilici, M.; Invernizzi, C.; Mazzoli, S.; Megna, A.; Pierantoni, P.P.; Spina, V.; Teloni, S.Santini, S.; Basilici, M.; Invernizzi, C.; Mazzoli, S.; Megna, A.; Pierantoni, P. P.; Spina, V.; Teloni, S

The Gaia-ESO Survey: metallicity of the Chamaeleon I star forming region

Context. Recent metallicity determinations in young open clusters and star-forming regions suggest that the latter may be characterized by a slightly lower metallicity than the Sun and older clusters in the solar vicinity. However, these results are based on small statistics and inhomogeneous analyses. The Gaia-ESO Survey is observing and homogeneously analyzing large samples of stars in several young clusters and star-forming regions, hence allowing us to further investigate this issue. Aims. We present a new metallicity determination of the Chamaeleon I star-forming region, based on the products distributed in the first internal release of the Gaia-ESO Survey. Methods. 48 candidate members of Chamaeleon I have been observed with the high-resolution spectrograph UVES. We use the surface gravity, lithium line equivalent width and position in the Hertzsprung-Russell diagram to confirm the cluster members and we use the iron abundance to derive the mean metallicity of the region. Results. Out of the 48 targets, we confirm 15 high probability members. Considering the metallicity measurements for 9 of them, we find that the iron abundance of Chamaeleon I is slightly subsolar with a mean value [Fe/H]=-0.08+/-0.04 dex. This result is in agreement with the metallicity determination of other nearby star-forming regions and suggests that the chemical pattern of the youngest stars in the solar neighborhood is indeed more metal-poor than the Sun. We argue that this evidence may be related to the chemical distribution of the Gould Belt that contains most of the nearby star-forming regions and young clusters.Comment: 13 pages, 11 figures, 3 tables, Accepted for publication in Astronomy & Astrophysic

The development of number concepts in children with differing degrees of spina bifida and hydrocephalus

The main contributions of the work in this thesis are summarised in testing the following hypotheses: (i) children with differing degrees of spina bifida and hydrocephalus pass through normal stages in the development of number concepts as postulated by Piaget; (ii) spina bifida children without a shunt are significantly more successful overall in Piagetian number tests than those with; (iii) there is a significant negative correlation between operativity in the Piagetian number tests and degree of overall handicap as reflected by the Pultibec Scale; (iv) spina bifida boys are significantly more successful educationally, particularly with respect to the development of number concepts, than spina bifida girls; (v) spina bifida children have specific perceptual problems; (vi) the well-attested progress in pre-school spina bifida children's acquisition of vocabulary skills is not maintained thereafter to the same extent; (vii) the level of reading attainment of spina bifida children overall is below normal at each age level