Bartiméus

Recording reliable pattern-reversal VEPs (prVEPs) in children is challenging due to limited attention. Superimposing dynamic cartoons may enhance engagement, but their effects on the prVEP are unclear. Fifteen healthy adults underwent prVEP testing under three conditions: (F) fixation on a central target (standard condition); (C) free viewing of a single-line cartoon superimposed onto the checkerboard pattern; and (M) a mixed condition, in which participants maintained fixation on the central target while the overlaid cartoon played. Eye movements were tracked to verify stable gaze in conditions F and M and to record gaze positions and velocities during condition C. P100 amplitude and peak time were analyzed for check sizes of 60' and 15'. Under condition (C) (free viewing), P100 was significantly reduced to 74% of that observed during F (standard fixation) at 60' (***p = 0.001) and to 82% at 15' (**p = 0.004), along with a reduction in peak time (60': - 2.4ms, ***p < 0.001; 15': - 3.1ms, **p = 0.009). The M condition (mixed condition, fixation with the cartoon) produced minor, mostly non-significant changes in amplitude (60': 88%, p = 0.076; 15': 96%, p = 0.383) and peak time (60': - 1.7ms, *p = 0.045; 15': 1.1ms, p = 0.056). Eye tracking confirmed that 90% (C) to 96% (F and M) of reversals occurred during stable gaze. In condition (C), gaze was on average directed approximately 2° below the central position used for fixation in the other conditions. The effect of cartoon overlays on the P100 component of adult prVEPs is small, albeit statistically significant. The effects likely reflect subtle influences of attention and adaptation rather than eye movements. These findings support the use of a single-line cartoon in pediatric testing to enhance engagement and response reliability without compromising clinical interpretation.

We present the protocol of a prospective scoping review which aims to understand how multi-channel visual evoked potentials (mcVEPs) are used to investigate congenital chiasmal misrouting and what outcomes are measured, interpreted and reported. mcVEPs are used for the objective evaluation of chiasmal misrouting, which is characterized by a crossed asymmetry in the distribution of cortical responses over each hemisphere during monocular stimulation, and is often observed in patients with albinism. The application and analysis of mcVEPs varies across centers, creating a need to explore the range of practice regarding their conduct and reporting and to identify potential areas for adaptation or optimization or guidelines for specific populations. Peer reviewed and grey literature on the use of mcVEP to detect chiasmal misrouting in humans with non-acquired pathologies will be considered. All literature providing details of mcVEP methodology for replication and specification of chiasmal misrouting will be included for review. Searches will be conducted using MEDLINE, Embase, Cochrane and Web of Science with the expertise of a librarian. The search will be conducted with no limitation on time period, but will be restricted to the Latin alphabet. Titles and abstracts will be screened by two investigators with conflicts resolved by a third investigator. Included articles will proceed with data extraction on study details including methodology, design, and outcomes. The results will be synthesized and mapped for logical understanding.

Background: The current standard therapy for pediatric optic pathway/hypothalamic glioma (OPHG) is systemic anticancer therapy (SAT) over surgery and radiotherapy. Nevertheless, recurrent radiological or clinical tumor progression after SAT forms a considerable challenge. Sporadic OPHGs are considered to have a higher tendency toward progression after first-line systemic anticancer therapy (SAT) compared to neurofibromatosis type-1-associated (NF1) OPHGs. Methods: The objective of this study was to conduct a national retrospective cohort analysis of children who received various treatments for a progressive OPHG, involving the hypothalamus and/or chiasm and/or optic radiations. The study aimed to examine the differences in clinical course and the range of treatment modalities applied to both sporadic and NF1-associated OPHGs between 1995 and 2020. Additionally, we sought to identify risk factors for 3- and 5-year progression following first- and second-order SAT. Results: In total, 136 children received treatment, of whom 49 of 136 (36.0%) had NF1. Within a median of 7.5 years (range: 0.1-23.8 years) of follow-up, sporadic OPHGs received more treatments compared to NF1-associated OPHGs (median of 2 (range: 1-8) vs. median of 1 (range: 1-7) (p < 0.01)). Nine children with sporadic OPHGs (6.6%) died. Of 112 children (82.4%) receiving SAT, 92% received combined first-line vincristine and carboplatin. These children had a 3- and 5-year progression-free survival of 61.8% (95% CI: 51.0-72.6%) and 48.4% (95% CI: 38.0-58.8%), respectively. Sporadic OPHGs had a higher rate of second progression (p < 0.01). Starting first-line vincristine and carboplatin at an age below one year was the only independent risk factor for progression. Conclusions: In this national historic cohort of pediatric OPHGs, four out of five children received SAT. Sporadic OPHGs received a higher number of various SATs compared to NF1-associated OPHGs, but the sporadic appearance of OPHGs was not an independent risk factor for progression after combined vincristine and carboplatin, as 'age below one year at the start' was the only factor.

PurposeTo describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of MT-ATP6 gene variant m.8969G > A. ObservationsA 20-year-old patient with a history of mild developmental delay, mild cognitive impairment, and positional tremor presented with subacute painless visual loss over a few weeks. Mitochondrial genome sequencing revealed a variant in MT-ATP6, m.8969G > A (p.Ser148Asn). This variant was previously reported in association with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) and with nephropathy, followed by brain atrophy, muscle weakness and arrhythmias, but not with optic atrophy. Conclusions and importanceRare variants in MT-ATP6 can also cause LHON like optic atrophy. It is important to perform further genetic analysis of mitochondrial DNA in genetically unsolved cases suspected of Leber's hereditary optic neuropathy to confirm the clinical diagnosis.

Esta pesquisa busca compreender a aproximação do fundamentalismo ao monoteísmo. O fundamentalismo surgiu como um resgate da tradição cristã em meio as transformações socioculturais. A modernidade oriunda do iluminismo provocou dentro dos fundamentalistas uma cisão que convergiu na formação de duas vertentes teológicas. Uma vertente de cunho liberal que se associou aos humanistas e as ciências sociais tornando-se uma teologia liberal. A outra vertente manteve-se atrelada ao conservadorismo e tradições da igreja primitiva. O fundamentalismo seperdeu ao encontrar com uma sociedade cíclica que avançava a passos largos. Isto provocou reações severas e críticas a sociedade moderna. Os avanços levaram ao surgimento de um pentecostalismo midiático que conduziu o fundamentalismo abancarrota. Na primavera árabe a expansão do Islamismo trouxe à tona o fundamentalismo, porém em uma releitura extremista. Esse extremismo revelou ao mundo toda violência e perseguição de pessoas e nações que aconteciam como preservação da Moral e da defesa do nome de Deus.

Purpose Meaningful interactions with significant others are crucial for children’s well-being, including those with severe to profound intellectual and multiple disabilities. This study aimed to gain more insight into the potential of an ICT-Toolkit in enhancing or contributing to the interaction between parents and their children with complex care needs. Methods A multiple case study with an AB experimental design was conducted. Four mother-child dyads were observed during eight two-and-a-half-hour home visits. Children between 6 and 16 years with severe to profound intellectual and multiple disabilities were included. A participatory research observation approach was used. Results Using the ICT-Toolkit compared to the baseline phase stimulated a decrease in the repetitive activities of two of the four dyads. Overall, the activity repertoire of the children and the length of time being engaged in individual activities increased, and the activities together increased in three of the dyads. There were more turn-taking interactions; the children took more initiative to engage their mother in their activity, and the children exhibited more affection when engaging with the ICT-Toolkit items. Three mothers followed their children more in their play, and all mothers were more verbally and physically active in instructing and/or motivating their children. Discussion All mothers noticed their child’s “new” behaviour when interacting with an ICT-Toolkit item. The mothers followed the child’s lead when engaged with the ICT-Toolkit. The ICT-Toolkit’s added effect may be due to the predictability, uncomplicated and highly perceivable stimuli it provides with minimal effort and maximum effect.

Abstract Purpose: To expand on the phenotype of oculocutaneous albinism type 7 (OCA7). Patients and Methods: We describe three patients with OCA7: two from a consanguineous family of Kurdish origin and one patient of Dutch origin. We compare them with all patients described to date in the literature. Results: All newly described patients had severely reduced visual acuity (VA), nystagmus, hypopigmentation of the fundus, severe foveal hypoplasia, and chiasmal misrouting. None had iris translucency. All patients had normal pigmentation of skin and hair. We found one novel mutation in the Dutch patient: c.565G&gt;A; p.(Gly189Ser). We compared our patients to the 15 described in the literature to date. All 18 patients had substantially pigmented skin and hair, very poor VA (0.4-1.3 logMAR), nystagmus, (mild) ocular hypopigmentation, foveal hypoplasia, and misrouting. Discussion: Although pigmentation levels are mildly affected in OCA7, patients have a severe ocular phenotype with VA at the poorer end of the albinism spectrum, severe foveal hypoplasia, and chiasmal misrouting. OCA7 patients have a phenotype restricted to the eyes, and similar to that of X-linked ocular albinism. We therefore propose to rename the disorder in ocular albinism type 2. Unfolding the role of LRMDA in OCA7, may bring us a step closer in identifying the responsible factors for the co-occurrence of foveal hypoplasia and misrouting.

Children and adolescents with a functional neurological disorder (such as functional visual disorder [FVD]) experience a lower psychological quality of life with more mental health problems than healthy controls. While there is ample research about functional neurological disorder in general, there is also a general lack of research concerning FVD and the effectiveness of treatments given to children and adolescents suffering from it. Our aim was to provide a visual overview of common topics concerning treatments of children and adolescents with an FVD. VOSviewer is a programme that extracts information (terms) from the titles and abstracts of articles to generate bibliometric networks. The results show that common subject terms are paediatrics and children. The common diagnostic terms include conversion disorder, hysterical vision disturbance, somatoform disorders, hysterical disorders, and functional (psychogenic) visual loss. Common therapeutic terms are suggestion therapy, brief psychotherapy, hypnosis, psychiatry, therapeutic processes, and suggestibility. The results give insight into the treatments that children and adolescents with FVD currently receive. We also provide directions for future studies into the treatment of FVD in children and adolescents.

The Attachment and Biobehavioral Catchup intervention potentially offsets psychosocial risks facing dyads in which children have intellectual disability or developmental delays. In this single-case multiple-baseline study the efficacy of this intervention was tested across three such South African families. Maternal sensitivity, attachment security, and child affect regulation were measured weekly during a baseline and intervention period, using the Ainsworth Maternal Sensitivity Scales, Attachment Q-sort and salivary cortisol, respectively. Furthermore, post-intervention interviews invited parents' and intervenors' evaluations of the intervention. Visual analysis broadly indicated improvement in maternal sensitivity and attachment security across subjects over time following the introduction of the intervention, although randomisation tests were not statistically significant. Effects on affect regulation were not clearly observed and may have been influenced by case-specific variables. Parent-participants and intervenors also identified particularly helpful contributions from the intervention. Findings underscore the importance of individual-level effects evaluation, especially when implementing interventions outside the original population.