ABSTRACT:Improved survival in pediatric oncology has resulted in a growing number of children, adolescents, and young adults affected by neuropsychological late effects of disease and/or treatment. Patientswith brain tumors and malignancies involving the central nervous system are particularly at risk. Neuropsychological impairments affect cognitive, emotional, and behavioral functioning and have sustained consequences for education, daily life, and social participation. In accordance with the concept of "growing into deficit," clinically relevant impairments may only emerge years after completion of therapy. Neuropsychological care is considered an integral component of comprehensive medical and psychosocial care. It comprises hypothesis-driven assessment beyond global IQ measures, counseling, everyday-oriented interventions and therapy, and continuous evaluation of treatment goals. Prerequisites include specialized developmental and clinical neuropsychological expertise, methodological quality assurance, multiprofessional collaboration, and adequate resources. In addition to neuropsychological care during oncological treatment, long-term neuropsychological monitoring from diagnosis through adult long-term follow-up is required. Outpatient and inpatient rehabilitation are essential to promote autonomy, quality of life, and participation. The Neuropsychology Working Group of PSAPOH identifies a significant gap in care and calls for the establishment and sustainable implementation of routine neuropsychological services, standardized transition processes, reimbursement of services, and nationwide access.
Zusammenfassung Mit gesteigerten Überlebensraten in der pädiatrischen Onkologie nimmt die Zahl der Kinder, Jugendlichen und jungen Erwachsenen mit neuropsychologischen Spätfolgen durch Erkrankung und/oder Therapie zu. Besonders betroffen sind Patient:innen mit Hirntumoren sowie onkologischen Erkrankungen mit ZNS-Beteiligung. Neuropsychologische Beeinträchtigungen betreffen Kognition, Emotion und Verhalten und wirken sich nachhaltig auf Ausbildung, Alltag und gesellschaftliche Teilhabe aus. Im Sinne eines „growing into deficit“ können Defizite häufig erst Jahre nach Therapieende klinisch relevant werden. Neuropsychologische Versorgung wird als integraler Bestandteil der medizinischen und psychosozialen Gesamtversorgung verstanden. Sie umfasst eine hypothesengeleitete Diagnostik über den IQ hinaus, Beratung, alltagsorientierte Interventionen und Therapie sowie eine kontinuierliche Zielüberprüfung. Voraussetzung sind spezifische entwicklungs(neuro)psychologische und klinisch-neuropsychologische Expertise, methodische Qualitätssicherung, multiprofessionelle Zusammenarbeit sowie ausreichende Ressourcen. Darüber hinaus ist neben der neuropsychologischen Versorgung während der onkologischen Therapie ein langfristiges neuropsychologisches Monitoring von der Diagnosestellung bis in die Erwachsenen-Langzeitnachsorge erforderlich. Ebenso sind ambulante und stationäre Rehabilitation zentrale Bausteine zur Förderung von Autonomie, Lebensqualität und Teilhabe. Die Fachgruppe Neuropsychologie der PSAPOH beschreibt eine relevante Versorgungslücke und fordert die Etablierung und Verstetigung neuropsychologischer Regelversorgung, standardisierte Transitionsprozesse, die Abrechenbarkeit erbrachter Leistungen, sowie einen flächendeckenden Zugang.
Background:BK polyomavirus is one of the most common viral causes of late-stage hemorrhagic cystitis in pediatric allogeneic hematopoietic stem cell transplantation. However, there are no established diagnostic and therapeutic standards. This study examined the clinical features, risk factors, and treatment approaches of BK polyomavirus-associated hemorrhagic cystitis in pediatric hematopoietic stem cell transplantation patients. Methods:Pediatric patients who underwent hematopoietic stem cell transplantation at our center between January 2018 and October 2023 and developed BK polyomavirus-associated hemorrhagic cystitis were retrospectively included. Results:A total of 34 pediatric hematopoietic stem cell transplantation recipients with BK polyomavirus associated hemorrhagic cystitis were analyzed. Viruria was seen in all patients and viremia in 55.8% of patients. Hematuria was graded 1-4 in all patients; among which, 52.9% (18) had mild hemorrhagic cystitis (grades 1 and 2) and 47.1% (16) had severe hemorrhagic cystitis (grades 3 and 4). Bladder hematomas occurred far more frequently in severe hemorrhagic cystitis (p<0.01). Spontaneous recovery was more common in the mild hemorrhagic cystitis group (68.8%) than in the severe group (31.3%), whereas mortality occurred more frequently in severe hemorrhagic cystitis, although not BK polyomavirus-mediated (p=0.01). Treatment included immunosuppression reduction, intravesical and intravenous cidofovir, hyperbaric oxygen, and supportive care. Conclusions:BK polyomavirus associated hemorrhagic cystitis is a common and challenging complication in pediatric hematopoietic stem cell transplantation recipients. Clarification of risk factors and optimization of supportive and antiviral treatments can potentially reduce the morbidity of this process.
Background:Invasive meningococcal disease is a rapidly progressive infection with heterogeneous clinical presentations. Phenotype-related severity differences in critically ill children remain incompletely defined. We evaluated the association between clinical phenotypes, early disease severity, and outcomes in a pediatric intensive care unit cohort. Methods:This retrospective study included 42 children admitted to a tertiary pediatric intensive care unit with invasive meningococcal disease between 2006 and 2020. Patients were classified as meningococcal sepsis without meningitis or meningococcal meningitis. Disease severity was assessed using the Pediatric Risk of Mortality III score. Demographic, clinical, microbiological, and selected household characteristics were analyzed. Results:Twenty-three patients (54.8%) had meningococcal sepsis without meningitis and 19 patients (45.2%) had meningococcal meningitis. The overall mortality was 21.4%. The sepsis phenotype was associated with higher Pediatric Risk of Mortality III scores (median 20 vs. 11, p=0.007), higher lactate, lower platelet counts, more organ support, and higher mortality (34.8% vs. 5.3%, p=0.023). Extended family living was more frequent in the meningitis group (26.3% vs. 4.3%, p=0.043). Serogroup data were available in 40.5% of cases, with serogroup B predominating. Conclusions:In this pediatric intensive care unit cohort, meningococcal sepsis without meningitis was associated with greater early severity and higher mortality than meningococcal meningitis. Household-structure findings should be considered exploratory. Early phenotype-based risk assessment may support the management of critically ill children with invasive meningococcal disease.
Zusammenfassung Die stationäre Therapie der RSV-Infektion umfasst nicht evidenzbasierte Maßnahmen einschließlich einer Übertherapie mit Antibiotika. Durch die Einführung von Nirsevimab als passive Immunisierung soll die Anzahl stationär behandelter Säuglinge abnehmen. Kann in einem regionalen pädiatrisch-infektiologischen Netzwerk die stationäre Therapie der RSV-Infektion verbessert werden? Wirkt sich die Einführung des Nirsevimab auf die stationäre Epidemiologie aus? Prospektive Studie (2024/2025) in sechs Kinderkliniken einer Region. Vereinbarung eines Behandlungsstandards einschließlich von fünf Interventionen, die eher unterlassen werden sollten (Leave 5). Analyse der Epidemiologie (≤24 Mo und 25–36 Mo) 2022–2025. 121 Clinical Review Forms (CRF) wurden erfasst. 101 (83,5%) der Patienten waren≤24 Monate alt. Die Liegedauer betrug 4±3 Tage vs. 3,5±2 Tage (≤24 Mo vs. 25–36 Mo). Mindestens ein Risikofaktor war bei 24% (≤24 Mo) und 25% (25–36 Mo; p=0,8) dokumentiert. In 56% der Fälle wurden alle fünf Leave 5-Maßnahmen vermieden (≤24 Monate 58%, 25-36 Monate 45%). Bei den Patienten≤24 Mo erhielten nur 9% Antibiotika. Nach Einführung von Nirsevimab kam es zu einer Abnahme der stationären RSV-Behandlungsfällen≤24 Mo (über 60%; p<0,0001). Eine Evidenz-basierte, vorwiegend supportive Therapie der RSV-Infektion bei stationär behandelten Kindern≤24 Mo kann durch ein abgestimmtes Vorgehen in einem pädiatrisch-infektiologischen Netzwerk gefördert werden. Bereits kurz nach der Einführung des Nirsevimab zeigt sich ein deutlicher Effekt auf die stationäre Epidemiologie.
Background:The International Classification of Functioning, Disability and Health and its child and youth version provide a holistic view of health problems and describe health status at five different levels. Some levels have measurement methods that can be used to visualise the success of therapy. However, this is questionable for the level of participation. The aim of this review is to determine whether there are any valid measurement methods for assessing participation in health care intervention for children and adolescents according to the International Classification of Functioning, Disability and Health. Methods:A systematic literature review was based on Preferred Reporting Items for Systematic Reviews and Meta-Analyses criteria. The search query was created according to the Patient/Population, Intervention, Comparison, Outcome, and Study Design scheme and used in two search runs across five databases (PubMED, Cochrane Database, NeuroBITE, APA PsychNET and PEDro). Publications were included or excluded by three reviewers based on defined criteria. The included publications were evaluated using the AMSTAR-2 tool and the study and measurement characteristics and measurement properties in terms of validity and reliability were presented. This systematic review is listed in PROSPERO. Results:A total of four publications were included, describing 23 measurement methods. With regard to validity, there are indications of adequate content and construct validity, as well as adequate to the questionable criterion and structural validity. Conclusions:Measurement methods for assessing participation in health care interventions according to the International Classification of Functioning, Disability and Health for children and adolescents exist. There is evidence of validity, but the quality of the studies is low.
Background:Gorlin syndrome (GS, MIM #109400) is a cancer predisposition syndrome characterized by macrocephaly, odontogenic keratocysts, calcification of the falx cerebri, basal cell carcinoma, and medulloblastoma. It is caused by pathogenic variants in the PTCH1 and SUFU genes. Patients and Methods:We evaluated the clinical and molecular features of 11 patients with GS using single-gene testing, multigene panel analysis, and clinical exome sequencing. Results:All patients exhibited characteristic craniofacial features. Macrocephaly was observed in 10 patients (90.9%) and odontogenic keratocysts in nine patients (81.8%). Palmar pits and falx cerebri calcification were observed in eight patients (72.7%). Basal cell carcinoma occurred in four patients (36.3%), and medulloblastoma in two (18.2%). GS was clinically suspected based on the observed clinical and radiological findings in all patients. Seven distinct heterozygous pathogenic PTCH1 variants were identified, four of which were novel. One patient had a dual diagnosis of L-2-hydroxyglutaric aciduria. Discussion:These findings underscore the marked phenotypic variability of PTCH1-related GS. Due to age-dependent clinical manifestations, patients require regular long-term surveillance and comprehensive clinical assessment. Conclusion:Molecular confirmation of the diagnosis is important for the provision of genetic counselling, consideration of preimplantation genetic diagnosis, and appropriate patient follow-up and treatment planning.
Background:Complex congenital heart disease requires specialized care and intensive support for families during infancy. The home monitoring program bridges the gap between inpatient and outpatient care. The aim of the study was to evaluate parental acceptance and satisfaction. Patients:Infants and young children (0-1 year) with complex congenital heart diseases. Methods:From November to December 2024, 201 parents from the DACH region were surveyed using an online questionnaire. Sociodemographic information, experiences with home monitoring, additional medical measures, support services and suggestions for improvement were recorded. 167 valid data sets were evaluated descriptively and using chi-square tests. Results:80.8% of parents were very satisfied. The accessibility of the facility (85.0%) and contact with the physician (85.6%) were rated particularly positively. 79.6% reported an increased sense of security, 70.7% reported a contribution to their child's health, and 52.7% reported a reduction in their own stress levels. Follow-up care (55.1%) and family support (34.1%) were frequently used as additional support services. Suggestions for improvement mainly concerned digital solutions. Discussion:The results illustrate the benefits of HM and show new findings as well as parallels to international studies. The HM should be further developed through digital methods. Conclusion:Home monitoring is predominantly viewed positively by most families and, according to parents, improves their children's safety and health.
Abstract:Lyme borreliosis-the most prevalent tick-borne disease in the United States, Canada and Europe-is a systemic infection caused by the spirochete Borrelia burgdorferi that can spread to the nervous system, where it may manifest as neuroborreliosis with potentially severe complications. Despite a worldwide and increasing prevalence, data on central nervous system complications in children with neuroborreliosis are limited.
Background:Pediatric idiopathic intracranial hypertension requires objective, noninvasive markers for diagnosis and follow-up. We aimed to determine whether mammillopontine distance and pontomesencephalic angle, two simple sagittal MRI measurements, reflect treatment-related changes. Methods:This retrospective study included 40 children aged 5 to 15 years: 20 patients with idiopathic intracranial hypertension and 20 age-matched controls. Idiopathic intracranial hypertension diagnosis was based on clinical/radiological findings and a cerebrospinal fluid opening pressure of>28 cmH2O. All idiopathic intracranial hypertension patients underwent lumbar puncture with therapeutic cerebrospinal fluid drainage and acetazolamide therapy, with magnetic resonance imaging performed before treatment and after complete clinical and radiological resolution. Controls had normal cerebrospinal fluid pressure and normal serial magnetic resonance imaging findings. The mammillopontine distance and pontomesencephalic angle were measured on sagittal T2-weighted images by three experienced radiologists. Statistical analyses were performed using SPSS, with p<0.05 considered significant; inter-rater reliability was assessed using the intraclass correlation coefficient. Results:Age and sex were comparable between groups. Before treatment, the pontomesencephalic angle and mammillopontine distance were significantly lower in the idiopathic intracranial hypertension group than in controls (both p<0.001), while the cerebrospinal fluid pressure was significantly higher (p<0.001). After treatment, the mammillopontine distance increased by a mean of 0.64 mm and the pontomesencephalic angle increased by a mean of 8.88°, accompanied by a mean cerebrospinal fluid pressure reduction of 21.60 mmH2O (all p<0.001). Serial measurements in controls remained unchanged (p>0.050). In controls, repeated-measurement reliability was high (intraclass correlation coefficient=0.970; 95% confidence interval: 0.925-0.988). Conclusions:Mammillopontine distance and pontomesencephalic angle demonstrate significant treatment-related changes in pediatric idiopathic intracranial hypertension and may be useful, reproducible magnetic resonance imaging-derived markers for follow-up. Although both parameters increased after therapy, the pontomesencephalic angle showed a more pronounced treatment-related change than the mammillopontine distance, suggesting greater responsiveness for monitoring treatment responses.
Background:Voiding diaries are essential in pediatric urinary incontinence. COVID-19 restrictions altered family routines. This study assessed effects on diary quality and treatment response. Patients:In a single-center retrospective analysis, 214 diaries from 187 patients (4-17 yrs) with non-organic urinary incontinence were evaluated from the pandemic period (Feb-Aug 2020) and 2022. Methods:Diary quality was scored (0-16) across four parameters (voiding frequency, urine volume, drinking frequency, volume);≥11 points were considered usable. Treatment response was assessed 3-6 months after therapy start. Mann-Whitney U and Chi-square tests were used. Results:Pandemic diaries showed higher quality (mean 14.3; 95% CI 13.67-14.89) than 2022 diaries (11.1; 95% CI 10.44-11.66; p<0.001) and were more often usable (93% vs. 55%; p<0.001). Treatment response was higher with usable diaries (70% vs. 23%; p<0.001). Discussion:Pandemic home conditions were associated with higher diary quality and treatment response. Conclusion:Structured home conditions during the 2-3 day documentation period may support improved diary quality. These findings highlight the clinical relevance of high-quality voiding diary completion.
