Search

Introduction: The use of teriparatide has been reported in children with hypoparathyroidism as an investigational physiologic replacement therapy.Methods: We aimed to retrospectively report our pediatric experience of bi-daily sub-cutaneous teriparatide. Results are presented as median (25th−75th quartile). As part of the routine follow-up of these patients with hypoparathyroidism, total calcium at H0 (i.e., just before injection) and H4 (i.e., 4 h after teriparatide injection) and other biomarker parameters were regularly assessed.Results: At a median age of 10.7 (8.1–12.6) years, an estimated glomerular filtration rate (eGFR) of 110 (95–118) mL/min/1.73 m2, calcium levels of 1.87 (1.81–1.96) mmol/L and an age-standardized phosphate of 3.8 (2.5–4.9) SDS, teriparatide therapy was introduced in 10 patients at the dose of 1.1 (0.7–1.5) μg/kg/day (20 μg twice daily), with further adjustment depending on calcium levels. Six patients already displayed nephrocalcinosis. Severe side effects were reported in one child: two episodes of symptomatic hypocalcemia and one of iatrogenic hypercalcemia; one teenager displayed dysgueusia. Calcium levels at H0 did not significantly increase whilst calcium at H4 and phosphate levels significantly increased and decreased, respectively. After 12 months, eGFR, calcium and age-standardized phosphate levels were 108 (90–122) mL/min/1.73 m2, 2.36 (2.23–2.48) mmol/L, 0.5 (−0.1 to 1.5), and 68 (63–74) nmol/L, respectively, with a significant decrease in phosphate levels (p = 0.01). Urinary calcium and calcium/creatinine ratio remained stable; no nephrolithiasis was observed but two moderate nephrocalcinosis appeared.Conclusion: Intermittent teriparatide therapy significantly improves calcium and phosphate control, without increasing calciuria. It appears to be safe and well-tolerated in children.

International audience; Family components can play roles both as protective factors and maintenance mechanisms of eating disorders. We aimed to investigate the role of food in the family relationships of adolescents with anorexia nervosa and bulimia in northeastern Brazil. Using photo elicitation, a visual narrative method that gives insight into the participants' perspective through photograph, we conducted semi-structured interviews with 26 people: four teenage girls with anorexia, four with bulimia, eight mothers, four fathers, five grandmothers, and one sister. Data were analyzed using the principles of Interpretative Phenomenological Analysis, which highlighted the following themes: control of the parent-adolescent relationship through food; food as a mean of experiencing parental presence-absence; food as the focus of conflict in the nuclear family, and food as a source of three-generational conflict. Food seemed to be a means for teens and parents to express physical suffering and psychological violence. Moreover, mourning appeared to influence the girls' relationships with food. Conflict in these families is not focused solely on food, but extends to other subjects, and teenagers' emotional reactivity concerning their relationship with their parents and food during family mealtimes varied. These features reinforced the cultural aspect and influences of eating experiences among adolescent girls with eating disorders. Remarkable disparities exist in the generations' views on what rules and rituals these adolescents must follow at meals. These disparities can obfuscate generational boundaries in these families. Our data reinforce the need to focus on the adolescent's autonomy in the family setting and on family identity as related to food among three generations. These findings necessitate a reorganization of boundaries between these generations.

International audience; Difficulty modulating sensory information has been described in children with developmental disorders. However, the relation of sensory processing difficulties (SPD) to emotional regulation problems remains poorly understood. The aim of this study is to determine the rate and patterns of SPD in youth with disruptive mood dysregulation disorder (DMDD). Participants were DMDD patients aged 6-16 years presenting at a university hospital in outpatient or inpatient facilities (n = 30). For each participant, the parent-reported Sensory Profile, the Affective Lability Scale, the Beck Depression Inventory-Second Edition, the Child Behavior Checklist/4-18, and the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version were completed. The scores of the Sensory Profile of the DMDD youths were compared to those obtained in a clinical control group and to the manual scores for same-age typically developing youths. SPD were reported in 53% of the subjects in the DMDD group compared to 33% in the clinical control group (p = 0.405). Youths with DMDD showed a significant difference on almost all items of the Sensory Profile compared to typically developing youth. The Sensory Profile was found to discriminate best between the participants with DMDD and those in the clinical control group with regard to the category "Behavioral outcomes of sensory processing" and the factor "Fine motor/perceptual behavior." All types of sensory processing patterns were reported in the DMDD youths: sensation avoiding (40%), low registration (27%), sensory sensitivity (20%), and sensation seeking (10%). As a group, youths with DMDD have significantly more SPD when compared to typical youths. Therefore, SPD could be an important factor to consider in youths with DMDD when providing comprehensive assessment and therapeutic interventions.

International audience; 3q29 deletion syndrome is a rare disorder, causing a complex phenotype. Clinical features are variable and relatively non-specific. Our report aims to present an atypical, de novo deletion in chromosome band 3q29 in a preschool boy, first child of healthy non-consanguineous parents, presenting a particular phenotype (microcephaly, “full moon” face, flattened facial profile, large ears, auricular polyp, and dental dystrophies), motor and cognitive delay, characteristics of autism spectrum disorder and aggressive behavior. He also presented intrauterine growth restriction (birth weight 2,400 g) and a ventricular septal defect. SNP Array revealed a 962 kb copy number loss, on the chromosome 3q29 band (195519857–196482211), consistent with 3q29 microdeletion syndrome. FISH analysis using a RP11-252K11 probe confirmed the deletion in the proband, which was not present in the parents. Although the patient's deletion is relatively small, it partly overlaps the canonical 3q29 deletion (defined between TFRC and DLG1 gene) and extends upstream, associating a different facial phenotype compared to the classic 3q29 deletion, nonetheless showing a similar psychiatric disorder. This deletion is different from the canonical region, as it does not include the PAK2 and DLG1 genes, considered as candidates for causing intellectual disability. Thus, narrowing the genotype-phenotype correlation for the 3q29 band, FBX045 is suggested as a candidate gene for the neuropsychiatric phenotype.

International audience; Background and purpose: Pediatric ependymoma carries a dismal prognosis, mainly owing to local relapse within RT fields. The current prospective European approach is to increase the radiation dose with a sequential hypofractionated stereotactic boost. In this study, we assessed the possibility of using a simultaneous integrated boost (SIB), comparing VMAT vs. IMPT dose delivery.Material and methods: The cohort included 101 patients. The dose to planning target volume (PTV59.4) was 59.4/1.8 Gy, and the dose to SIB volume (PTV67.6) was 67.6/2.05 Gy. Gross tumor volume (GTV) was defined as the tumor bed plus residual tumor, clinical target volume (CTV59.4) was GTV + 5 mm, and PTV59.4 was CTV59.4 + 3 mm. PTV67.6 was GTV+ 3 mm. After treatment plan optimization, quality indices and doses to target volume and organs at risk (OARs) were extracted and compared with the standard radiation doses that were actually delivered (median = 59.4 Gy [50.4 59.4]).Results: In most cases, the proton treatment resulted in higher quality indices (p < 0.001). Compared with the doses that were initially delivered, mean, and maximum doses to some OARs were no higher with SIB VMAT, and significantly lower with protons (p < 0.001). In the case of posterior fossa tumor, there was a lower dose to the brainstem with protons, in terms of V59 Gy, mean, and near-maximum (D2%) doses.Conclusion: Dose escalation with intensity-modulated proton or photon SIB is feasible in some patients. This approach could be considered for children with unresectable residue or post-operative FLAIR abnormalities, particularly if they have supratentorial tumors. It should not be considered for infratentorial tumors encasing the brainstem or extending to the medulla.

International audience; Sarcomas are a heterogenous group of malignant neoplasms of mesenchymal origin, many of which have a propensity to develop distant metastases. Cancer cells that have escaped from the primary tumour are able to invade into surrounding tissues, to intravasate into the bloodstream to become Circulating Tumour Cells (CTCs), and are responsible for the generation of distant metastases. Due to the rarity of these tumours and the absence of specific markers expressed by sarcoma tumour cells, the characterisation of sarcoma CTCs has to-date been relatively limited. Current techniques for isolating sarcoma CTCs are based on size criteria, the identification of circulating cells that express either common mesenchymal markers, sarcoma specific markers such as CD99, CD81 or PAX3, chromosomal translocations found in certain sarcoma subtypes such as EWS-FLI1 in Ewing’s sarcoma, detection of osteoblast-related genes, or measurement of the activity of specific metabolic enzymes. Further studies are needed to improve thee isolation and characterisation of sarcoma CTCs, to demonstrate their clinical significance as predictive and/or prognostic biomarkers, and to utilise CTCs as a tool for investigating the metastatic process in sarcoma and to identify novel therapeutic targets. The present review provides a short overview of the most recent literature on CTCs in sarcoma.

International audience; Dual task is known to affect postural stability in children. We explored the effect of visual tasks on postural control in thirty dyslexic children. A selected group of thirty chronological age-matched non-dyslexic children (mean age: 9.92 ± 0.35 years) and a group of thirty reading age-matched non-dyslexic children (mean reading age: 7.90 ± 0.25 years) were chosen for comparison. All children underwent ophthalmologic and optometric evaluation. Eye movements were recorded by a video-oculography system (EyeBrain ® T2) and postural sway was recorded simultaneously by a force platform (TechnoConept ®). All children performed fixations, pursuits, pro-and anti-saccades tasks. Dyslexic children showed significantly poor near fusional vergence ranges (convergence and divergence) with respect to the non-dyslexic children groups. During the postural task, quality of fixation and anti-saccade performance in dyslexic children were significantly worse compared to the two non-dyslexic children groups. In contrast, the number of catch-up saccades during pursuits and the latency of pro-and anti-saccades were similar in the three groups of children examined. Concerning postural quality, dyslexic children were more unstable than chronological age-matched non-dyslexic children group. For all three groups of children tested we also observed that executing saccades (pro-and anti-saccades) reduced postural values significantly in comparison with fixation and pursuit tasks. The impairment in convergence and divergence fusional capabilities could be due to an immaturity in cortical structures controlling the vergence system. The poor oculomotor performance reported in dyslexic children suggested a deficit in allocating visual attention and their postural instability observed is in line with the cerebellar impairment previously reported in dyslexic children. Finally, pro-or anti-saccades reduce postural values compared to fixation and pursuit tasks in all groups of children tested, suggesting a different influence of visual tasks on postural control according to their attentional demand.

International audience; Studies dealing with developmental aspects of binocular eye movement behavior during reading are scarce. In this study we have explored binocular strategies during reading and visual search tasks in a large population of dyslexic and typical readers. Binocular eye movements were recorded using a video-oculography system in 43 dyslexic children (aged 8-13) and in a group of 42 age-matched typical readers. The main findings are: (i) ocular motor characteristics of dyslexic children are impaired in comparison to those reported in typical children in reading task; (ii) a developmental effect exists in reading in control children, in dyslexic children the effect of development was observed only on fixation durations; and (iii) ocular motor behavior in the visual search tasks is similar for dyslexic children and for typical readers, except for the disconjugacy during and after the saccade: dyslexic children are impaired in comparison to typical children. Data reported here confirms and expands previous studies on children's reading. Both reading skills and binocular saccades coordination improve with age in typical readers. The atypical eye movement's patterns observed in dyslexic children suggest a deficiency in the visual attentional processing as well as an impairment of the ocular motor saccade and vergence systems interaction.