bluuebunny/crossref_metadata_2025_split huggingface dataset:
NFS-25. CANCER PREDISPOSITION SYNDROMES IN THE PROSPECTIVE PEDIATRIC BRAIN TUMOR COHORT
Authors: Kopecka Marie , Slamova Lucie , Sumerauer David , Trkova Katerina , Landova Lucie , Zamecnik Josef , Vicha Ales , Zapotocky Michal 
Published: June 2024

Abstract

BACKGROUND
The etiology of pediatric cancer remains largely unclear, with only a small proportion of patients (8-10%) harboring cancer predisposition syndromes (CPS). However, prospective studies evaluating CPS in pediatric neuro-oncology patients are scarce. We aimed to investigate the incidence and spectrum of CPS in this patient population.

METHODS
Newly diagnosed pediatric brain tumor patients from 2020 to 2023 were consented, and their germline DNA was sequenced using a DNA panel for next-generation sequencing (NGS) or whole-exome sequencing. Patients with previously known NF1, NF2, or TSC were excluded from the study.

RESULTS
A total of 164 consecutive patients from our center were enrolled over four years. Pathogenic germline variants (UV4 or UV5) were detected in 24 cases (14.6%). Half of these mutated genes are known to be associated with pediatric tumors. Examples include variants in TP53 (two patients with high-grade glioma), biallelic FANCD1 (medulloblastoma), SMARCE1 (meningioma), NF1 (high-grade glioma), NF2 (meningioma), MSH2 (medulloblastoma), and others. The second group of patients harbored pathogenic variants without confirmed associations with pediatric cancer, including heterozygous variants in MUTYH (n=3), FANC genes (n=2), NBN (n=2), PALB2, XPC, and pathogenic variants in WRN or CHEK2 (n=3). In addition to pathogenic variants in CHEK2, variants of uncertain significance, such as c.470T&gt;C, were also identified (total n=8). The majority of patients with a CHEK2 variant were diagnosed with glial tumors. Notably, 8.3% of patients with pediatric low-grade gliomas (LGG) from our cohort harbored a CHEK2 germline variant.

CONCLUSIONS
The incidence of CPS in our cohort (14.6%) is higher than what is reported in studies evaluating all pediatric cancer patients. This percentage might be underestimated due to the exclusion of known phacomatoses. The role of some variants, including those in CHEK2, warrants further investigation. This study was supported by the Ministry of Health of the Czech Republic, grant number NU21-07-00419.
QOL-09. EQUI AND HIPPO: A STUDY ASSESSING THE FEASIBILITY AND ACCEPTABILITY OF HORSE THERAPY FOR CHILDREN, ADOLESCENTS AND YOUNG ADULTS IN REMISSION FROM A MEDULLOBLASTOMA
Authors: BERTOZZI Anne Isabelle , DEJEAN Morgan , BEAUDA Malory , BAUDOU Eloïse 
Published: June 2024

Abstract

INTRODUCTION
Psycho-social and motor disorders are common long-term sequalae in patients treated for a medulloblastoma during childhood. They often require long-term, multidisciplinary rehabilitation and post-therapeutic care that can be difficult to maintain over time. To address this common problem, we hypothesized that a horse therapy can re-engage children in their rehabilitation. The expected benefits of the horse therapy involve both psycho-social skills thought animal mediation (equitherapy) and motor skills using the horse’s three-dimensional movement (hippotherapy).

MATERIALS AND METHODS
We conducted a single-center prospective interventional trial including patients treated for medulloblastoma during childhood, aged 10 to 26, in complete remission. The intervention consisted on weekly 2-hours sessions of equitherapy and hippotherapy with a specialized physiotherapist and psychologist over a 4-month period (16 sessions per patient) in groups of 2 participants. The primary objective was to determine the feasibility of a rehabilitation program combining equitherapy and hippotherapy. The secondary objective was to assess changes in motor skills, balance, emotional feelings, self-esteem and quality of life at the end of the sessions, at 4 months and at 6 months using questionnaires and standardized and validated measurements.

RESULTS
The study began in April 2023 and is still ongoing. Six participants were included and four ended the intervention period. On this preliminary cohort, the recruitment rate was excellent with 100% of patients offered the program agree to take part. Three participants completed the program with a 100% adherence rate. All participants were very satisfied with their participation in the program. Analysis of second objective will be presented in the form of case reports.

CONCLUSION
The expected outcome of this study is to define a framework for the application of this practice, enabling a model of this rehabilitative management, and then to lead to dissemination and recognition of this activity, enabling larger-scale studies.
QOL-12. LESSONS LEARNED FROM LONGITUDINAL CARE IN POSTERIOR FOSSA SYNDROME
Authors: Tsetlina Vera , Cassidy Deborah , Tenaglia Amy Lynn , Levin Jared , Tsao Elaine , Ibanez Katarzyna 
Published: June 2024

Abstract

BACKGROUND
Posterior fossa syndrome (PFS) is a constellation of neurobehavioral symptoms occurring in 8–24% of children following surgical resection of posterior fossa tumors. Symptoms may include a combination of mutism or reduced verbal output, emotional lability, hypotonia, dysphagia, ataxia and weakness. Direct surgical injury to the dentato-thalamo-cortical pathway has been the proposed pathological mechanism. The trajectory of recovery and the functional outcomes of PFS are not well described. Khan et al. published a prospective study on children after medulloblastoma resection where they divided PFS into type 1 (complete mutism) and type 2 (diminished speech). They showed that PFS type 1 patients had a worse prognosis and a delayed recovery with 44.4% of children being non-ambulatory at one year. Ricci et al. recently published a more detailed severity grading algorithm which over time will hopefully help with data collection and analysis leading to improved prognostication regarding functional recovery.

METHODS
We present a unique longitudinal look (range 12 months to 19 years) at 5 pediatric patients with posterior fossa tumors who developed PFS following their tumor resections.

RESULTS
Tumor diagnoses included ependymoma and medulloblastoma. Rehabilitation interventions consisted of acute inpatient rehabilitation where they received intensive physical, occupational, speech and feeding therapy. Most patients benefited from early utilization of trunk and lower extremity bracing as well as a variety of assistive devices and durable medical equipment. Patients continued their rehabilitation for months to years in an outpatient and school setting. All patients demonstrated significant neurological and functional gains however, none of them had a complete resolution of symptoms. We discuss the anatomy, the time to symptom onset, the trajectory of our patients’ recoveries and the rationale behind the applied rehabilitation strategies.

CONCLUSIONS
This work gives insights on long term sequalae of PFS and demonstrates current rehabilitation approach for children with this complex condition.
QOL-13. RETURNING TO SCHOOL TO REDUCE LATE COGNITIVE SIDE EFFECTS IN SURVIVING CHILDREN WITH BRAIN TUMORS AFTER RADIOTHERAPY
Authors: Zhang Yangqiong , Yang Huajun , Xiang Yuliang , Wang Danlei , He Lihan , Cai Linbo 
Published: June 2024

Abstract

OBJECTIVE
To investigate whether returning to school can reduce advanced cognitive impairment related to chemo-radiotherapy in children with brain tumors.

METHOD
From 2013 to 2018, 132 children with brain tumors aged 3-14 who received chemo-radiotherapy for brain tumors were retrospectively analyzed for gender, tumor type, age of radiotherapy, education level, place of residence, and return to school. The Wechsler Intelligence Test was conducted before and 5-10 years after radiotherapy and chemotherapy, and they were divided into a return to school regular class group, a return to school family/community education group, and a non return to school no education group.

RESULT
78 cases were in the group of returning to school for regular classes, 30 cases were in the group of returning to school for family/community education, and 24 cases were in the group of not returning to school without teaching. The verbal intelligence, operational intelligence, and overall intelligence of the group returning to school and attending regular classes were significantly higher than the other two groups. The return to school situation of urban children is better than that of rural children (p=0.028&lt;0.05). Children with germ cell tumors had the best return to school, while those with glioma had the worst return to school (p&lt;0.05). The quality of life score of returning to school children was significantly higher than that of out of school children (p&lt;0.05).

CONCLUSION
Children returning to school are significantly better than those of out of school children in terms of physiological, emotional, social, and school functions. After 5 years of radiotherapy, the cognitive level of the returning children significantly improved, and the overall quality of life was relatively high.
QOL-16. IMPACT OF LESION LOCATION ON MOTOR AND COGNITIVE OUTCOMES IN PEDIATRIC CEREBELLAR TUMORS
Authors: Walsh Karin , Stoodley Catherine , Nielsen Johanna , Kaufman Alex , Baucom Brooks , Muir Aly , Pakhejad Maneli , Tegiacchi Rebecca 
Published: June 2024

Abstract

BACKGROUND
Children with cerebellar damage are at increased risk for various adverse outcomes, including higher rates of autism and long term neurocognitive challenges. Traditionally considered a motor structure, extensive evidence links the cerebellum to a range of behaviors and atypical cerebellar structure and function have been reported in multiple neurodevelopmental and psychiatric conditions. A key feature of cerebellar neuroanatomy are the functional subregions that support sensorimotor and non-motor functions, leading to the hypothesis that motor, cognitive and behavioral outcomes should be predicted by the cerebellar lesion location.We aimed to determine how lesion location relates to outcomes in pediatric cerebellar patients. We predicted that lesions of the anterior lobe would disrupt motor performance, posterolateral lesions would impact cognitive functions, and behavioral dysregulation would be associated with posterior midline damage.

METHODS
We conducted lesion-symptom mapping in 30 children with a history of cerebellar tumor resection (sex: 19 male, 11 female; age at diagnosis, mean 6.8 years [SD 4.2]). Clinical MRI scans and neuropsychological data were used to evaluate the impact of lesion location on motor (pegboard), cognitive (verbal comprehension, verbal fluency, working memory, processing speed) and behavioral control measures (BRIEF). We mapped individual lesions using T1-weighted MRIs and normalized the lesion maps into standard template space for group analyses.

RESULTS
Behavioral scores ranged from impaired to above average. Lesion overlap maps were used to assess the lesion patterns associated with performance. As predicted, anterior and medial lesions disrupted motor performance and processing speed; posterolateral lesions were associated with impaired cognitive scores.

CONCLUSIONS
These preliminary analyses indicate that long-term outcomes are associated with disruption of specific cerebellar subregions. This could aid in prognosis and management of pediatric cerebellar tumor patients. Future work will address age of surgery, longitudinal changes in performance, and the developmental impact of early cerebellar disruption on supratentorial structures.
QOL-23. POTENTIAL MYELIN REPAIR AFTER IRRADIATED PEDIATRIC BRAIN TUMOR: A MAGNETIZATION TRANSFER IMAGING ANALYSIS
Authors: Baudou Eloïse , Tseng Julie , Ryan Jennifer L , Bouffet Eric , Bartels Ute , Timmons Brian , de Medeiros Cynthia , Mabbott Donald J 
Published: June 2024

Abstract

BACKGROUND
Exercise training and metformin treatment may improve cognition after cranial irradiation in pediatric brain tumors (PBT), but the neuronal mechanisms underlying the effect of these interventions remains unknown. Magnetization transfer imaging (MTI) is an imaging technique that may be sensitive to white matter microstructure – including myelin.

METHODS
In this work, we analyzed changes in magnetization transfer ratio (MTR) over a 12-week period in irradiated PBT survivors who participated in pilot clinical trials entailing 12 weeks of exercise training (exercise group, n=17), or metformin treatment (n=12). Pre- and post-intervention assessment included MRI scanning and neurocognitive tests. A no intervention control group, (n=7) was also included and seen before and after a 12 week period of time. We used a longitudinal Tract-Based Spatial Statistics (TBSS) approach to analyze differences in MTR across the 12 weeks in the three groups, using as covariates: age at baseline, sex, handedness, age at diagnosis and delay from diagnosis. Then we performed correlations between mean MTR changes and behavioral outcomes.

RESULTS
Clusters of significant increase in MTR were observed in the right temporal lobe in the exercise group after intervention and in the right minor forceps in the metformin group after treatment. These changes respectively correlated with higher performance in free recall score in exercise group and with higher performances in inhibitory control and attention in metformin group. There was no difference in MTR changes between groups nor within the control group.

DISCUSSION
This exploratory work suggests either a 12-week period of exercise training or metformin may promote myelination in PBT survivors in brain regions. These changes appear to be associated with improved memory and executive function, two core domains of neurocognitive deficit in this population.
QOL-35. ANALYSIS ON THE EVOLUTIONARY PATTERN OF COGNITIVE FUNCTIONS IN CHILDREN ON FOLLOW-UP FOR BRAIN TUMORS
Authors: Liguoro Ilaria , Toniutti Maristella , Tuniz Francesco , Vindigni Marco , Pegolo Enrico , D’Agostini Serena , De Colle Maria Cristina , Mascarin Maurizio , Coassin Elisa , Cogo Paola Elisa , Pilotto Chiara , Zilli Tiziana 
Published: June 2024

Abstract

BACKGROUND
Long-term cognitive sequelae of paediatric brain tumors are of increasing interest. The role of histology and surgery remains still unclear. Our study aimed to evaluate children cognitive functioning before and after brain tumors surgery, and at the end of additional treatments.

METHODS
New diagnoses of paediatric primary brain tumors were prospectively assessed. Neurocognitive evaluations were performed at diagnosis (T0), within 7-10 days from surgery (T1) and 12-18 months after the end of treatments (T2). Language, learning and memory, attention, executive functions, visuo-constructional and sensorimotor skills were evaluated at T0 and T1, Intelligent Quotient (IQ) was explored at T0 and T2.

RESULTS
Twenty-five patients (M:F=15:10, mean age 10.9±3.4 years) were enrolled between January 2019 and December 2022. In comparison to normal values (&gt;7.0), at baseline patients showed major deficits in narrative memory (6.6±3.7, p&lt;0.001) and visuo-spatial memory (copy design tasks: general 6.8±3.9, p&lt;0.001, specific 6.2±3.3, p&lt;0.001, motor 5.2±3.2, p&lt;0.001). At T1 assessment, significant deficits remained in narrative memory (6.2±3.3, p&lt;0.001) and visual-motor coordination (copy design tasks: specific 5.9±3.0, p&lt;0.001 and motor 4.8±4.3 p&lt;0.001); attention and visual-constructional abilities significantly improved (p=0.04 and p=0.001). On the visual construction test, children with high-grade histology scored lower than the low-grade group (Rey- Osterrieth complex figure-copy 5.1±4.4 vs 11.0±4.3; p=0.019). At T2 evaluation children showed persistent deficits in visuo-spatial processing and a possible decline in IQ scores, with lower scores compared with T0 (93 vs 100, p=0.05).

CONCLUSIONS
Children with brain tumors may present several neuropsychological impairments at diagnosis, particularly those with high-grade diseases. Surgery may have a positive effect on the recovery of some cognitive functions. However, cognitive decline may worsen over time. Baseline and periodic neurocognitive evaluations should be encouraged to identify functional difficulties and to develop a tailored treatment approach for the patient.
QOL-40. FAMILY MENTAL HEALTH SCREENING EARLY AFTER A DIAGNOSIS OF PEDIATRIC BRAIN TUMOR
Authors: Rodemann Ashley , Hartman Mary E , Abdelbaki Mohamed , Cluster Andrew S 
Published: June 2024

Abstract

INTRODUCTION
A new diagnosis of a brain tumor in a child has significant emotional consequences for every member of the family. Despite this, early phases of oncologic care rarely provide formal mental health screening.

METHODS
In 2021, we implemented a mental health screening protocol for patients with a newly diagnosed brain tumor admitted to our pediatric intensive care unit (PICU) at the time of diagnosis, and their parents. Screening instruments were selected based on previous validation and relevance to both a brain tumor diagnosis and PICU admission. Parents were contacted by our team shortly after their child’s diagnosis and completed the screening within a month via an online interface. Parent proxy reports for children were used when necessary. Scores were shared with the family and neuro-oncology team. When indicated, supportive counseling and care coordination were offered.

RESULTS
Since 2021, 97 new brain tumor patients have met criteria for mental health screening. Of these, 72 patient and parent dyads were provided the screening protocol, and 31 fully completed the screening (mean patient age 7.3 yrs; 81% white; 58% male). Of the families that completed the evaluation, most parents (83%) reported their child’s diagnosis negatively impacted their health-related quality of life (HRQL), while 75% of children themselves reported a lower HRQL than population norms. Nearly half of children (44%) self-reported having symptoms outside of normal range for anger, anxiety or depression and 33% had abnormal scores for pain interference with their daily lives. More than half (65%) of families reported lower family functioning than population norms.

CONCLUSION
Families of children with a new diagnosis of brain tumor are at risk for impaired mental health and quality of life early after diagnosis. A systematic approach to assess and address these concerns early after diagnosis is needed.
QOL-46. EFFECTIVENESS OF A TELEREHABILITATION PROGRAM TO IMPROVE VISUAL PERCEPTION IN CHILDREN AND ADOLESCENTS WITH HEMIANOPIA CONSECUTIVE TO A BRAIN TUMOUR
Authors: Bajin Inci Yaman , Misawa Mariana , Zhang Bill , Daibert-Nido Monica , Tchao Danielle , Garcia-Giler Eduardo , Cheung Kyle , Appel Lora , Nasir Pi , Reginald Arun , Tabori Uri , Bartels Ute , Ramaswamy Vijay , Markowitz Samuel N , Bouffet Eric , Reber Michael 
Published: June 2024

Abstract

BACKGROUND
Brain tumours in children often lead to visual impairment, which presents as a significant morbidity for long-term survivors. A recent Children Cancer Survivor Study showed that 22.5% of the patients with astroglial tumours had visual impairment five years after the diagnosis. In the pediatric population with hemianopia, there are no standardized protocols for managing vision loss. This study evaluated a 6-week home-based telerehabilitation program (home-based 3D-MOT-IVR) on visual perception in children with hemianopia consecutive to a brain tumour.

METHODS
This phase 2a, open-labelled, non-randomized, single-arm study included ten patients aged 12-18 years old with hemianopia consecutive to a pediatric brain tumour. Patients followed a 6-week home-based 3D-MOT-IVR with remote control of the device from the UHN laboratory. Visual assessments were performed at baseline, 2, 4, and 6 weeks, with follow-ups at 1 and 6 months to check the visual field, contrast sensitivity and reading speed.

RESULTS
The home-based 3D-MOT-IVR intervention proved feasible and safe, with no reported adverse events. All participants completed the prescribed stimulations, pre- and post-intervention assessment points, and 90% completed the follow-ups. Remarkably, the outcomes revealed significant improvements post-intervention: 50% of participants showed enhanced visual perception in their blind field, while 70% exhibited increased reading speed. Importantly, these positive effects were sustained at the 6-month follow-up. A robust correlation emerged between 3D-MOT-IVR performance and improved visual perception in the blind field, emphasizing the intervention’s effectiveness.

CONCLUSION
These promising results lay a strong foundation for a larger randomized controlled trial, offering hope for a meaningful breakthrough in visual rehabilitation for this vulnerable population. Further studies are being developed to confirm these results and identify the most appropriate schedules to optimize visual outcomes (such as duration and repetition of these programs).
QOL-48. NEUROPSYCHOLOGICAL INTERVENTION FOR PEDIATRIC BRAIN TUMOR PATIENTS AND SURVIVORS - A PRE-STUDY WITH A FOCUS ON PATIENT INVOLVEMENT
Authors: Leiss Ulrike , Schneider Carina , Gsell Hannah , Maletzky Anna-Maria , Kienesberger Anita , Röhl Claas , Bocolli Albina , Gojo Johannes , Hansl Rita , Zettl Anna , Weiler-Wichtl Liesa J 
Published: June 2024

Abstract

BACKGROUND
Neuropsychological (i.e. cognitive, emotional and social) sequelae after pediatric brain tumors (PBT) can severely impair daily-life participation and consequently quality of life. Long-term access to appropriate interventions is therefore essential. Previous studies on effectiveness have recommended multi-component interventions tailored to the specific neuropsychological impairments and unique needs of the survivors. Hence, before conducting a new intervention study, we carried out a participative pre-study, in order to incorporate experienced needs of the group into a future concept.

METHODS
Known efficacy factors for neurocognitive interventions for PBT patients/survivors were analyzed in a systematic literature search (PubMed, PsychINFO and SCOPUS, 2000 -2024). In addition, a 3-part workshop (in total 4.5 days) was held with PBT survivors and carers (N=20) and Health-Care-Professionals (N=5). The “junior research academy” was designed to participatively run through the research process from the initial idea (how to improve interventions) to the study design.

RESULTS
After title and abstract screening only 27 studies remained for detailed analysis, with computerized/online cognitive training (mainly working memory), being the most frequently studied intervention, followed by exercise training. Single studies on the effect of medication, parent training, practice/strategy training and behavioral therapy, group training on social skills and neurofeedback were identified. Improvements in different domains have been shown, but recruitment often remains very difficult, as does the transfer to everyday life. Interestingly, the “junior research academy” developed in a slightly different direction: the winning projects (“family guide” or “everyday compass”) were primarily aimed at (1) providing quick and unbureaucratic information and support, (2) giving orientation in daily life, (3) helping to find appropriate interventions, and (4) providing emotional and organizational support.

CONCLUSIONS
A core group of the participating survivors and health-care-professionals will now finalize the development of an intervention with elements of both pillars and subsequently run a controlled trial.