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BACKGROUND/AIMS: Individuals with neurofibromatosis 1 may experience changes in their appearance due to physical manifestations of the disorders and/or treatment sequelae. Appearance concerns related to these physical changes can lead to psychological distress and poorer quality of life. While many neurofibromatosis 1 clinical trials focus on assessing changes in tumor volume, evaluating patients' perspectives on corresponding changes in symptoms such as physical appearance can be key secondary outcomes. We aimed to determine whether any existing patient-reported outcome measures are appropriate for evaluating changes in appearance concerns within neurofibromatosis 1 clinical trials. METHODS: After updating our previously published systematic review process, we used it to identify and rate existing patient-reported outcome measures related to disfigurement and appearance. Using a systematic literature search and initial triage process, we focused on identifying patient-reported outcome measures that could be used to evaluate changes in appearance concerns in plexiform or cutaneous neurofibroma clinical trials in neurofibromatosis 1. Our revised Patient-Reported Outcome Rating and Acceptance Tool for Endpoints then was used to evaluate each published patient-reported outcome measures in five domains, including (1) respondent characteristics, (2) content validity, (3) scoring format and interpretability, (4) psychometric data, and (5) feasibility. The highest-rated patient-reported outcome measures were then re-reviewed in a side-by-side comparison to generate a final consensus recommendation. RESULTS: Eleven measures assessing appearance concerns were reviewed and rated; no measures were explicitly designed to assess appearance concerns related to neurofibromatosis 1. The FACE-Q Craniofacial Module-Appearance Distress scale was the top-rated measure for potential use in neurofibromatosis 1 clinical trials. Strengths of the measure included that it was rigorously developed, included individuals with neurofibromatosis 1 in the validation sample, was applicable to children and adults, covered item topics deemed important by neurofibromatosis 1 patient representatives, exhibited good psychometric properties, and was feasible for use in neurofibromatosis 1 trials. Limitations included a lack of validation in older adults, no published information regarding sensitivity to change in clinical trials, and limited availability in languages other than English. CONCLUSION: The Response Evaluation in Neurofibromatosis and Schwannomatosis patient-reported outcome working group currently recommends the FACE-Q Craniofacial Module Appearance Distress scale to evaluate patient-reported changes in appearance concerns in clinical trials for neurofibromatosis 1-related plexiform or cutaneous neurofibromas. Additional research is needed to validate this measure in people with neurofibromatosis 1, including older adults and those with tumors in various body locations, and explore the effects of nontumor manifestations on appearance concerns in people with neurofibromatosis 1 and schwannomatosis.
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Neurilemoma , Neurofibroma Plexiforme , Neurofibromatosis , Neurofibromatosis 1 , Neoplasias Cutáneas , Niño , Humanos , Anciano , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/tratamiento farmacológico , Neurofibroma Plexiforme/complicaciones , Neurofibroma Plexiforme/diagnóstico , Neurofibroma Plexiforme/patología , Calidad de Vida , Neurofibromatosis/complicaciones , Neurofibromatosis/terapiaRESUMEN
In this multi-center longitudinal cohort study conducted in Australia and New Zealand, we assessed the trajectories of health-related quality of life (HRQoL) in children with chronic kidney disease (CKD) over time. A total of 377 children (aged 6-18 years) with CKD stages 1-5 (pre-dialysis), dialysis, or transplant, were followed biennially for four years. Multi Attribute Utility (MAU) scores of HRQoL were measured at baseline and at two and four years using the McMaster Health Utilities Index Mark 3 tool, a generic multi-attribute, preference-based system. A multivariable linear mixed model was used to assess the trajectories of HRQoL over time in 199 children with CKD stage 1-5, 43 children receiving dialysis and 135 kidney transplant recipients. An interaction between CKD stage at baseline and follow-up time indicated that the slopes of the HRQoL scores differed between children by CKD stage at inception. Over half of the cohort on dialysis at baseline had received a kidney transplant by the end of year four and the MAU scores of these children increased by a meaningful amount averaging 0.05 (95% confidence interval 0.01 to 0.09) per year in comparison to those who were transplant recipients at baseline. The mean difference between baseline and year two MAU scores was 0.09 (95% confidence interval -0.05, 0.23), (Cohen's d effect size 0.31). Thus, improvement in HRQoL over time of children on dialysis at baseline was likely to have been driven by their transition from dialysis to transplantation. Additionally, children with CKD stage 1-5 and transplant recipients at baseline had no changes in their disease stage or treatment modality and experienced stable HRQoL over time.
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Trasplante de Riñón , Insuficiencia Renal Crónica , Humanos , Niño , Adolescente , Calidad de Vida , Estudios Longitudinales , Insuficiencia Renal Crónica/diagnóstico , Insuficiencia Renal Crónica/terapia , Diálisis RenalRESUMEN
BACKGROUND: Neurocognitive outcomes beyond childhood in people with a Fontan circulation are not well defined. This study aimed to investigate neurocognitive functioning in adolescents and adults with a Fontan circulation and associations with structural brain injury, brain volumetry, and postnatal clinical factors. METHODS: In a binational study, participants with a Fontan circulation without a preexisting major neurological disability were prospectively recruited from the Australia and New Zealand Fontan Registry. Neurocognitive function was assessed by using Cogstate software in 107 participants with a Fontan circulation and compared with control groups with transposition of the great arteries (n=50) and a normal circulation (n=41). Brain MRI with volumetric analysis was performed in the participants with a Fontan circulation and compared with healthy control data from the ABIDE I and II (Autism Brain Imaging Data Exchange) and PING (Pediatric Imaging, Neurocognition, and Genetics) data repositories. Clinical data were retrospectively collected. RESULTS: Of the participants with a Fontan circulation who had a neurocognitive assessment, 55% were male and the mean age was 22.6 years (SD 7.8). Participants with a Fontan circulation performed worse in several areas of neurocognitive function compared with those with transposition of the great arteries and healthy controls (P<0.05). Clinical factors associated with worse neurocognitive outcomes included more inpatient days during childhood, younger age at Fontan surgery, and longer time since Fontan procedure (P<0.05). Adults with a Fontan circulation had more marked neurocognitive dysfunction than adolescents with a Fontan circulation in 2 domains (psychomotor function, P=0.01 and working memory, P=0.02). Structural brain injury was present in the entire Fontan cohort; the presence of white matter injury was associated with worse paired associate learning (P<0.001), but neither the presence nor severity of infarct, subcortical gray matter injury, and microhemorrhage was associated with neurocognitive outcomes. Compared with healthy controls, people with a Fontan circulation had smaller global brain volumes (P<0.001 in all regions) and smaller regional brain volumes in most cerebral cortical regions (P<0.05). Smaller global brain volumes were associated with worse neurocognitive functioning in several domains (P<0.05). A significant positive association was also identified between global brain volumes and resting oxygen saturations (P≤0.04). CONCLUSIONS: Neurocognitive impairment is common in adolescents and adults with a Fontan circulation and is associated with smaller gray and white matter brain volume. Understanding modifiable factors that contribute to brain injury to optimize neurocognitive function is paramount.
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Encéfalo/fisiopatología , Disfunción Cognitiva/etiología , Procedimiento de Fontan/efectos adversos , Adolescente , Adulto , Encéfalo/diagnóstico por imagen , Estudios de Casos y Controles , Disfunción Cognitiva/diagnóstico , Femenino , Sustancia Gris/diagnóstico por imagen , Sustancia Gris/fisiopatología , Humanos , Imagen por Resonancia Magnética , Masculino , Memoria a Corto Plazo , Destreza Motora , Tamaño de los Órganos , Sistema de Registros , Estudios Retrospectivos , Transposición de los Grandes Vasos/cirugía , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/fisiopatología , Adulto JovenRESUMEN
Recently, children with temporal lobe epilepsy (TLE) were found to be at risk of accelerated long-term forgetting (ALF). In this study, we examined the temporal trajectory of ALF, while exploring the relationship between ALF, executive skills, and epilepsy variables. Fifty-one children, (23 with TLE and 28 typically developing) completed a battery of neuropsychological tests of verbal and visual memory, executive skills, and two experimental memory tasks (verbal and visual) involving recall after short (30-min) and extended (1-day and 2-week) delays. Side of seizure focus and hippocampal integrity were considered. On the visual task (Scene Memory), children with TLE performed comparably to typically developing children following a 30-min and 1-day delay, although worse than typically developing children at 2 weeks: ALF was observed in children with right TLE focus. The two groups did not differ on the experimental verbal memory task. Children with TLE also had worse performance than typically developing children on standardized verbal memory test and on tests of executive skills (i.e., verbal generativity, inhibition, working memory, complex attention). Only complex attention was associated with visual ALF. ALF was present for visuo-spatial materials in children with TLE at two weeks, and children with right TLE were most susceptible. A relationship was identified between complex attention and long-term forgetting. The findings extend our understanding of difficulties in long-term memory formation experienced by children with TLE.
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Epilepsia del Lóbulo Temporal , Niño , Epilepsia del Lóbulo Temporal/complicaciones , Humanos , Trastornos de la Memoria/complicaciones , Trastornos de la Memoria/etiología , Memoria a Largo Plazo/fisiología , Memoria a Corto Plazo , Recuerdo Mental/fisiología , Pruebas NeuropsicológicasRESUMEN
BACKGROUND: Lower socioeconomic status (SES) is associated with lower academic achievement; however, this relationship is understudied in children with chronic kidney disease (CKD). This study examined the relationship between SES and academic performance in children and adolescents with CKD. METHODS: A total of 377 participants aged 6-18 years with CKD stages 1-5 (n = 199), on dialysis (n = 43) or with a kidney transplant (n = 135) were recruited. Five SES measures and a composite SES index were examined for associations with parent-rated average or above average academic performance in numeracy and literacy using multivariable logistic regression. RESULTS: Participants' median age was 12.6 years (IQR 8.9-15.5). Adjusted odds ratios (aOR) (95%CI) for better performance in numeracy and literacy, respectively, were 0.71 (0.44-1.15) and 0.75 (0.45-1.23) for children whose caregivers had lower educational attainment; 0.46 (0.26-0.80) and 0.53 (0.30-0.93) for lower household income; 0.52 (0.32-0.85) and 0.44 (0.26-0.73) for caregivers who were unemployed; 0.68 (0.41-1.12) and 0.59 (0.35-1.00) for caregivers with poor self-rated financial status; and 0.93 (0.53-1.64) and 1.00 (0.56-1.79) for caregivers who did not own their own home. Compared with the highest SES index quartile, the aORs for better performance by SES quartile in descending order were 1.24 (0.60-2.54), 0.76 (0.37-1.58), and 0.39 (0.18-0.86) for numeracy and 0.88 (0.41-1.85), 0.77 (0.35-1.66), and 0.32 (0.14-0.72) for literacy. No interactions were identified between SES and CKD stage, child age, or gender. CONCLUSIONS: Across all CKD stages, children from lower SES families are less likely to perform well in literacy and numeracy than those from higher SES households. A higher resolution version of the Graphical abstract is available as Supplementary information.
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Rendimiento Académico , Insuficiencia Renal Crónica , Niño , Adolescente , Humanos , Diálisis Renal , Clase Social , Escolaridad , Insuficiencia Renal Crónica/terapiaRESUMEN
BACKGROUND: Few data exist on the cognitive and academic functioning of children with chronic kidney disease (CKD) over the trajectory of their illness. We aimed to determine the association between CKD stages and cognitive and academic performance in children over time. METHODS: We included 53 participants (aged 6-18 years) with CKD stages 1-5 (n = 37), on dialysis (n = 3), or with functioning kidney transplant (n = 22) from three units in Australia from 2015 to 2019. Participants undertook a series of psychometric tests and were invited for repeated assessments annually. We used linear regression and linear mixed models to investigate the effect of CKD stage, adjusted for socioeconomic status. RESULTS: At baseline, full-scale intelligence quotient (FSIQ) (95%CI) of children on kidney replacement therapy (KRT) was in the low average range (87: 78, 96) and average (101: 95, 108) for children with CKD 1-5. Mean (95%CI) FSIQ, word reading, numerical operations, and spelling scores for children on KRT were 14.3 (- 25.3, - 3.3), 11 (- 18.5, - 3.6), 8.5 (- 17.6, 0.76), and 10 (- 18.6, - 1.3) points lower than children with CKD Stages 1-5. Spelling and numerical operations scores declined by 0.7 (- 1.4, - 0.1) and 1.0 (- 2.0, 0.2) units per year increase in age, regardless of CKD stage. CONCLUSIONS: Children treated with KRT have low average cognitive abilities and lower academic performance for numeracy and literacy compared to both children with CKD 1-5 and to the general population. However, the rate of decline in academic performance over time is similar for children across the full spectrum of CKD. A higher resolution version of the Graphical abstract is available as Supplementary information.
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Diálisis Renal , Insuficiencia Renal Crónica , Niño , Cognición , Humanos , Pruebas de Inteligencia , Insuficiencia Renal Crónica/complicaciones , Insuficiencia Renal Crónica/epidemiología , Insuficiencia Renal Crónica/terapia , Terapia de Reemplazo RenalRESUMEN
OBJECTIVES: The Psychosocial Standards of Care (PSSC) in paediatric oncology prescribe the minimum standards for education support. It is unknown, however, if published education support programmes for children with cancer meet the PSSC standards for education support. Successful implementation of standards for education support is challenging but may be achieved with guidance. We aimed to (1) review education support programmes for childhood cancer patients and survivors against the PSSC standards and (2) provide practical recommendations for future research and implementation of education support programmes. METHODS: We searched PsycINFO, PubMed, CINAHL, EMBASE, and Educational Resources Information and Center databases. We reviewed the education support programmes using five evaluation criteria derived from the PSSC and summarised the structure of identified programmes. We examined the features and limitations of programmes that met all evaluation criteria. RESULTS: We identified 20 education support programmes in paediatric oncology, including peer programmes (n = 3), teacher programmes (n = 5), and school re-entry programmes (SRPs n = 12). We found that three SRPs met all evaluation criteria and that SRP components were timed according to the child's position on the cancer trajectory (e.g., diagnosis and treatment, school re-entry, and follow up throughout schooling). The supporting evidence of the programmes, however, is unclear due to the lack of adequately designed studies. CONCLUSIONS: SRPs provide a promising structure for future education support programmes. We recommend strategies for developing and evaluating education support that adheres to the PSSC and adapts to international and local contexts.
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OBJECTIVE: Reading difficulties are one of the most significant challenges for children with neurofibromatosis type 1 (NF1). The aims of this study were to identify and categorize the types of reading impairments experienced by children with NF1 and to establish predictors of poor reading in this population. METHOD: Children aged 7-12 years with NF1 (n = 60) were compared with typically developing children (n = 36). Poor word readers with NF1 were classified according to impairment type (i.e., phonological, surface, mixed), and their reading subskills were compared. A hierarchical multiple regression was conducted to identify predictors of word reading. RESULTS: Compared to controls, children with NF1 demonstrated significantly poorer literacy abilities. Of the 49 children with NF1 classified as poor readers, 20 (41%) were classified with phonological dyslexia, 24 (49%) with mixed dyslexia, and 5 (10%) fell outside classification categories. Children with mixed dyslexia displayed the most severe reading impairments. Stronger working memory, better receptive language, and fewer inattentive behaviors predicted better word reading skills. CONCLUSIONS: The majority of children with NF1 experience deficits in key reading skills which are essential for them to become successful readers. Weaknesses in working memory, receptive language, and attention are associated with reading difficulties in children with NF1.
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Dislexia , Neurofibromatosis 1 , Niño , Dislexia/etiología , Humanos , Lingüística , Neurofibromatosis 1/complicaciones , Fonética , Lectura , Instituciones AcadémicasRESUMEN
AIM: To characterise the physical, psychological, and quality of life burden associated with serogroup B invasive meningococcal disease (IMD) in children. METHODS: Children aged up to 14 years at the time of serogroup B IMD, who were admitted to intensive care units of two tertiary paediatric hospitals in New South Wales, Australia between January 2009 and December 2013 were recruited. Children underwent clinical and neuropsychological assessments up to 6 years post-disease. RESULTS: Eleven children were assessed, with a median age of 16 months (range 4-46 months) at time of disease. The median follow-up time was 50 months (range 10-67 months). Seven (63.6%) cases had one or more long-term sequelae involving permanent and evolving physical disability. Three cases had ongoing medical conditions including two with seizures and one with ataxia and hypermetropia. Five required ongoing medical and allied health care. Other complications identified included anxiety, speech delay, low average full-scale IQ score (median 85, interquartile range 89-103) and borderline memory impairment. CONCLUSIONS: Serogroup B IMD is associated with significant long-term morbidity and burden on the child and family with substantial economic implications. The impact of this on the total cost of IMD needs to be further quantified, and better considered in vaccine cost-effectiveness analyses.
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Infecciones Meningocócicas , Neisseria meningitidis Serogrupo B , Australia , Niño , Preescolar , Humanos , Lactante , Nueva Gales del Sur , Calidad de Vida , SerogrupoRESUMEN
Generic medicines have been available to consumers for â¼40 years, with varying degrees of uptake in different countries. Despite offering equivalent therapeutic qualities, generic medicines still struggle to be accepted by consumers. This study examines the role of a consumer's affective state and framing effects on the purchase of a branded versus a generic pharmaceutical product. These issues are examined in an experiment, with independent manipulations of consumer anxiety levels and the framing of generic alternatives by the pharmacist. The sample comprised 426 men and women within Australia who completed an online survey with a scenario of purchasing a pharmaceutical after visiting a General Practitioner. Results indicate that those consumers experiencing higher levels of anxiety and where the doctor prescribed the branded medicine are more likely to choose branded medicines over cheaper, generic alternatives. The effect of framing the generic alternative as either 'generic' or 'cheaper' was not significant.
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Trastornos de Ansiedad , Medicamentos Genéricos , Ansiedad/tratamiento farmacológico , Australia , Medicamentos Genéricos/uso terapéutico , Femenino , Humanos , Masculino , FarmacéuticosRESUMEN
PURPOSE: Long-term memory, which is critical for social and vocational functioning, is impaired in children with genetic generalized epilepsy (GGE). In this study, we examined the relationship between the temporal pattern of long-term forgetting for visual and verbal materials and executive skills in children with GGE. METHOD: Thirty-two children, 17 with GGE and 25 typically developing age-matched controls completed standardized tests of short-term memory (recall after a 30-minute delay), executive skills, and experimental long-term memory tasks (one verbal and one visual) involving recall after one short (30-minute), and two long (1-day, 2-week) delays. RESULTS: On the long-term visual memory task, children with GGE performed comparably with typically developing children at a 30-minute delay (pâ¯=â¯.298), although obtained lower object placement accuracy score, at 1â¯day (pâ¯=â¯.039) and at 2â¯weeks (pâ¯=â¯.022) relative to typically developing children. On the verbal task, the between-group difference was not significant at any delay. In children with GGE, poorer object placement accuracy at two weeks correlated with lower visuospatial short-term memory (râ¯=â¯-0.624, pâ¯=â¯.005) and verbal working memory (râ¯=â¯-0.448, pâ¯=â¯.041). CONCLUSIONS: This study provided several novel findings. For the first time, accelerated long-term forgetting (ALF) was found in long-term visual memory in children with GGE, despite comparable learning and recall at 30â¯min. Study results indicated that deficits in long-term visual memory are present after one day, increase over time, and may relate to reduced executive skills. Our findings can be used to inform our understanding of the temporal trajectory of ALF and contribution of executive skills.
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Epilepsia Generalizada , Trastornos de la Memoria , Niño , Humanos , Memoria a Largo Plazo , Recuerdo Mental , Pruebas NeuropsicológicasRESUMEN
Facial emotion perception (FEP) impairments are common in adults with epilepsy and associated with impaired psychosocial functioning. Research into the presence of FEP deficits in children with epilepsy and the functional implications of these deficits is limited. The primary aims of this study were to assess FEP abilities in children (8 to 16â¯years old) with genetic generalized epilepsy (GGE) and temporal lobe epilepsy (TLE) and examine whether FEP is related to everyday social functioning. Forty-four children (8 to 16â¯years) with epilepsy (22 GGE, 22 TLE) and 22 typically developing controls completed the Pictures of Facial Affect (POFA) battery to assess FEP and a brief test of intellectual functioning (intelligence quotient [IQ]). Parents completed questionnaires assessing social competence of their child. Neurologists completed the Global Assessment of Severity of Epilepsy (GASE) scale as a measure of overall epilepsy severity. Demographic and clinical information was obtained from medical records and clinical interviews with parents. Findings revealed significant, overall FEP impairments and reduced social competence in children with GGE and TLE compared to controls. The magnitude of FEP impairment (i.e., across all emotions) was comparable in the two epilepsy groups, yet different emotions were impaired in each group: children with GGE were impaired in recognizing anger and disgust, whereas children with TLE were impaired in sadness and disgust, compared to controls. Contrary to expectations, total FEP accuracy was not significantly correlated with social competence in either epilepsy group. In conclusion, children with GGE and TLE have significant impairments recognizing emotional expressions on faces. Further research is needed to examine whether underlying FEP impairments relate to social and emotional functioning in children with epilepsy.
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Epilepsia Generalizada/psicología , Epilepsia del Lóbulo Temporal/psicología , Reconocimiento Facial/fisiología , Habilidades Sociales , Adolescente , Niño , Emociones , Expresión Facial , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas , Encuestas y CuestionariosRESUMEN
OBJECTIVE: To determine the association of socioeconomic disadvantage and parent-rated health in children with chronic kidney disease (CKD). METHODS: A total of 377 children (aged 6-18 years) with CKD stages I-V (n = 199), on dialysis (n = 43), or with a kidney transplant (n = 135) were recruited from 2012 to 2016 in Australia and New Zealand. Associations of five socioeconomic status (SES) components and the global SES index with parent-rated health of the child were examined using adjusted logistic regression. RESULTS: The median age of participants was 12.6 years (interquartile range (IQR) 8.9-15.5). In the entire cohort, the adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for poor parent-rated health were 1.85 (1.13-3.03) for lower household income, 1.78 (1.08-2.96) for families that did not own their own home, 2.50 (1.50-4.16) for caregivers who rated their financial status as poor, 0.84 (0.51-1.38) for lower educational attainment, and 1.68 (1.04-2.72) for children whose primary caregivers were unemployed. With reference to the highest global SES index quartile, adjusted ORs for poor parent-rated health in descending order were 1.49 (0.69-3.21), 2.11 (1.06-4.20), and 2.20 (1.09-4.46), respectively. The association between low SES and poor parent-rated health was modified by CKD stage, where lower global SES index was independently associated with poor parent-rated health in children with CKD stages I-V, but not children on dialysis or with kidney transplants (p = 0.04). CONCLUSIONS: Low SES is associated with poor parent-rated health in children with CKD stages I-V, but not children on dialysis and with kidney transplants.
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Estado de Salud , Fallo Renal Crónico , Padres , Pobreza , Adolescente , Adulto , Niño , Escolaridad , Femenino , Humanos , Renta , Fallo Renal Crónico/fisiopatología , Fallo Renal Crónico/terapia , Trasplante de Riñón , Masculino , Persona de Mediana Edad , Padres/educación , Diálisis Renal , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios , DesempleoRESUMEN
As survival rates for pediatric liver transplant continue to increase, research attention is turning toward long-term functional consequences, with particular interest in whether medical and transplant-related factors are implicated in neurocognitive outcomes. The relative importance of different factors is unclear, due to a lack of methodological uniformity, inclusion of differing primary diagnoses, varying transplant policies, and organ availability in different jurisdictions. This cross-sectional, single-site study sought to address various methodological limitations in the literature and the paucity of studies conducted outside of North America and Western Europe by examining the intellectual and academic outcomes of Australian pediatric liver transplant recipients (N = 40). Participants displayed significantly poorer intellectual and mathematical abilities compared with the normative population. Greater time on the transplant waitlist was a significant predictor of poorer verbal intelligence, working memory, mathematical abilities, and reading but only when considering the subgroup of children with biliary atresia. These findings support reducing the time children wait for a transplant as a priority.
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Cognición , Evaluación Educacional , Inteligencia , Trasplante de Hígado/métodos , Lectura , Listas de Espera , Adolescente , Niño , Preescolar , Estudios Transversales , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Matemática , Pruebas Neuropsicológicas , Factores de TiempoRESUMEN
AIM: This cross-sectional study aimed to examine the preliteracy abilities of young children with neurofibromatosis type 1 (NF1) and to identify which of these abilities best predicted conventional literacy (spelling). METHOD: Forty-two children with NF1 (23 males, 19 females; mean age [SD] 5y 6mo [6mo]) were compared with 32 unaffected children (15 males, 17 females; mean age [SD] 5y 4mo [6mo]). All children completed a comprehensive cognitive assessment including measures of phonological processing (phonological awareness, phonological memory, rapid automatic naming) and letter-sound knowledge. RESULTS: Children with NF1 performed significantly poorer than the comparison group across all cognitive and preliteracy domains, with specific weaknesses evident in phonological awareness (F1,68 =14.13, p<0.001, partial η2 =0.17), phonological memory (F1,68 =13.87, p<0.001, partial η2 =0.17), and letter-sound knowledge (F1,71 =5.65, p=0.020, partial η2 =0.07). Within the group with NF1 group, over a third of children demonstrated impairment in at least one phonological processing domain and the risk of phonological impairment was 5.60 times that of unaffected children. Children's letter-sound knowledge was the strongest predictor of conventional literacy (spelling). INTERPRETATION: This study establishes that preliteracy deficits are present and detectable in young children with NF1. As a result of the high incidence of preliteracy impairment, we recommend screening phonological awareness and letter-sound knowledge to identify risk of future learning disorders. WHAT THIS PAPER ADDS: Young children with neurofibromatosis type 1 are at elevated risk of preliteracy deficits. The most affected domains are phonological awareness and phonological memory. Letter-sound knowledge is the strongest predictor of conventional literacy (spelling).
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Trastornos del Conocimiento/etiología , Discapacidades del Desarrollo/etiología , Dislexia/etiología , Neurofibromatosis 1/complicaciones , Análisis de Varianza , Concienciación , Niño , Preescolar , Trastornos del Conocimiento/diagnóstico , Comprensión , Estudios Transversales , Dislexia/diagnóstico , Femenino , Humanos , Estudios Longitudinales , Masculino , Pruebas NeuropsicológicasRESUMEN
OBJECTIVE: Attention difficulties are a common clinical complaint among children with epilepsy. We aimed to compare a range of attentional abilities between groups of children with two common epilepsy syndromes, Temporal Lobe Epilepsy (TLE) and Idiopathic Generalized Epilepsy (IGE), and to healthy controls. We also investigated whether epilepsy factors (laterality of seizure focus, epilepsy onset, duration, and severity) were related to attentional abilities. METHODS: Multiple dimensions of attention (selective, sustained, and divided attention and attentional control) were assessed directly with standardized neuropsychological measures in 101 children aged 6-16years (23 children with TLE, 20 with IGE and 58 healthy controls). Attention was also assessed indirectly, via a parent-report measure. RESULTS: Children with TLE performed worse than children with IGE (p=0.013) and healthy controls (p<0.001) on a test of attentional control, but no between-group differences were apparent on tests of other attentional abilities. Compared to healthy controls, greater attention problems were reported by parents of children with TLE (p=0.006) and IGE (p=0.012). Left-hemisphere seizure focus and greater epilepsy severity were associated with poorer attentional control and sustained-divided attention, respectively, but no other epilepsy factors were associated with attentional abilities. SIGNIFICANCE: These findings suggest that children with localization-related epilepsy, but not generalized epilepsy, may be at risk of deficits in attentional control. Interventions aimed at improving attentional control may be targeted at children with localization-related epilepsy, particularly those with a left-hemisphere seizure focus, who appear to be particularly susceptible to this type of attentional deficit.
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Atención/fisiología , Epilepsia Generalizada/fisiopatología , Epilepsia Generalizada/psicología , Epilepsia del Lóbulo Temporal/fisiopatología , Epilepsia del Lóbulo Temporal/psicología , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/etiología , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Trastorno por Déficit de Atención con Hiperactividad/psicología , Niño , Epilepsia Generalizada/complicaciones , Epilepsia del Lóbulo Temporal/complicaciones , Femenino , Lateralidad Funcional/fisiología , Humanos , Masculino , Pruebas NeuropsicológicasRESUMEN
OBJECTIVE: To examine the efficacy of a phonics-training program in children with neurofibromatosis type 1 (NF1) and reading difficulties. STUDY DESIGN: Thirty children (7-12 years of age) with NF1 completed a double-baseline, 24-week intervention trial. Literacy outcome measures were assessed at 4 time points: (1) at baseline; (2) after an 8-week no-treatment period; (3) immediately post-treatment; and (4) at follow-up 8 weeks post-treatment. Repeated-measures ANOVA were conducted to examine change over time for all outcome measures, and significant main effects were explored with planned comparisons. Predictors of treatment effects were examined by linear regressions. RESULTS: Ninety percent of participants completed the intervention. Intervention-specific improvements were observed across a range of literacy outcomes, including reading accuracy (nonword reading, Cohen d = 1.10; regular-word reading, Cohen d = 0.32), letter-sound knowledge (Cohen d = 0.80), blending (Cohen d = 0.88), repetition of nonsense words (Cohen d = 0.94), phonemic decoding fluency (Cohen d = 0.55), and reading comprehension (Cohen d = 0.31). Improvements were maintained 8 weeks post-treatment. Age (P = .03) and working memory (P = .02) significantly influenced efficacy, with greatest improvements observed in older children with stronger verbal working memory capacity. CONCLUSIONS: Home-based, computerized reading intervention was effective in improving the reading and reading-related abilities of children with NF1 and reading difficulty. TRIAL REGISTRATION: Australian and New Zealand Clinical Trials Registry: ACTRN12611000779976.
Asunto(s)
Dislexia/etiología , Dislexia/terapia , Intervención Educativa Precoz , Neurofibromatosis 1/complicaciones , Niño , Femenino , Humanos , Masculino , Estudios ProspectivosRESUMEN
OBJECTIVE: To evaluate young adult cancer survivor opinions on whether their biobanked tissue and associated de-identified clinical data obtained during their childhood should require re-consent at the age of majority, when parental consent was originally provided. STUDY DESIGN: Thirty young adults (18-34 years old), who were former pediatric oncology patients of The Children's Hospital at Westmead with stored research biospecimens, were recruited. They completed a semistructured interview, which included questions on biobanking re-consent, awareness of biobanked tissue, satisfaction about banked tissue, and independence within the family. Analyses included descriptive and inferential statistics. RESULTS: Sixty percent of participants thought that permission for biobanking should be sought again at adulthood, and the remaining 40% did not think that re-consent was necessary. Seventy percent of participants were unaware of their previously banked tissue, which was dependent upon age at diagnosis. When asked whether they granted permission for their tissue to remain in the biobank, all participants agreed. CONCLUSIONS: Although results on whether young adults prefer to re-consent or not for previously biobanked tissue and corresponding clinical data are equivocal, survivors appear to be highly favorable about ongoing biobanking of their childhood specimens for future unspecified research.
Asunto(s)
Bancos de Muestras Biológicas , Consentimiento Informado , Neoplasias/terapia , Adolescente , Adulto , Actitud , Actitud Frente a la Salud , Femenino , Humanos , Masculino , Nueva Gales del Sur , Padres , Sobrevivientes , Adulto JovenRESUMEN
OBJECTIVE: To establish the developmental trajectory of young children with neurofibromatosis type 1 (NF1) during the first 4 years of life. STUDY DESIGN: In this longitudinal study, 39 children with NF1 and 39 controls were assessed with the Bayley Scales of Infant Development, Second Edition at 21 (time point 1, or T1) and 30 months (T2) of age, and the Wechsler Preschool and Primary Scale of Intelligence, Third Edition at 40 months (T3). Language was also assessed at T2 and T3. Parents rated their child's productive vocabulary at T1 and T2, and behavior at each time point. Linear mixed models were performed to examine cognitive development and behavior over time. Linear regressions were conducted to determine whether mental development and productive vocabulary at T1 or T2 predicted intellectual and language outcomes at T3. RESULTS: Over time, the NF1 group had significantly lower cognitive scores than controls. Parent ratings indicated no group differences in behavior at each time point. Earlier mental function significantly predicted later general intelligence. Earlier productive vocabulary was a significant predictor of later language skills. CONCLUSIONS: There are consistent differences over time in cognitive performance between children with NF1 and unaffected peers during the early childhood period. Earlier mental function and productive vocabulary are significant predictors of subsequent general intelligence and performance on language measures in NF1. This provides an opportunity for early identification and treatment for young children with NF1 who may show signs of impairments in these developmental domains.