Parent Proxy-report Research Articles

An evaluation of health-related quality of life and its relation with functional vision in children with cerebral visual impairment

BackgroundHealth-related Quality of Life (HRQOL) and its relation with functional vision is understudied in cerebral visual impairment (CVI). AimsCharacterising HRQOL, comparing child self- and parent proxy-reports, and exploring relations with functional vision. Methods and proceduresSeventy-three children with CVI (n females = 33; n males = 40; Mean performance age = 7y2m) were included. HRQOL was measured with Pediatric Quality of Life Inventory (PedsQL) child self- and parent proxy-reports and compared using Wilcoxon signed-rank tests. Risk for impaired HRQOL was evaluated using cut-off scores. Parents scored functional vision using the Insight Questions Inventory and the Flemish CVI Questionnaire. Outcomes and results61 % (self-reported) or 66 % of children (proxy-reported) were at-risk for impaired total HRQOL. Ratings were correlated (rs = 0.305; p = 0.013); however, children rated higher total HRQOL compared to parent-proxy (r = 0.382; p = 0.002). The Insight Questions Inventory and the PedsQL proxy-report were correlated (rp = −0.454; p < 0.001), the Flemish CVI Questionnaire was negligibly correlated (rp = −0.244; p = 0.041). Conclusions and implicationsHRQOL is reduced in CVI, and both child and parent perspectives are crucial. HRQOL and functional vision are intricately related, and impairment in one negatively affects the other.

Health-related quality of life of toddlers during and after cancer treatment

BackgroundThere is a knowledge gap regarding health-related quality of life (HRQOL) in childhood cancer patients below 2 years of age. The aim of this study was therefore to compare HRQOL of young children during and after treatment for cancer, to healthy controls, and to investigate effects of biopsychosocial factors. ProcedureThe study is based on data from an online monitoring program. Parent-proxy reports of HRQOL in 205 children aged 12–24 months were compared to 108 healthy children. The parents filled out the TNO-AZL Preschool Quality of Life questionnaire for young children, which consists of 12 subscales, in addition to a parental distress thermometer. ResultsParticipants undergoing treatment had less favorable HRQOL than children after treatment for eight of the subscales. They also had less favorable HRQOL than healthy children for seven scales, while the only significant difference between children off treatment and healthy controls was for motor functioning. For ten subscales, there were significant relationships between biopsychosocial variables and HRQOL outcomes. Parental distress and treatment with immunotherapy were the variables most frequently associated with lower HRQOL. ConclusionsParental distress should be considered when monitoring young childhood cancer patients. Treatment with immunotherapy is likely to be a marker of disease severity and might represent other underlying factors affecting HRQOL. The association between immunotherapy and HRQOL therefore needs more research. While there was a significant difference depending on treatment status, it cannot be concluded that this represents an improvement in HRQOL after end of treatment.

Health-related quality of life among pediatric patients with acute lymphoblastic leukemia: An exploratory cross-sectional study.

Improved survival rates broadened the pediatric oncology focus to include health-related quality of life (HRQoL). This cross-sectional study aimed to examine HRQoL by treatment phase and disease risk level in pediatric patients with B-cell acute lymphoblastic leukemia (B-ALL), including those in early survivorship. A subset of data from a larger prospective cohort study was analyzed. Data were collected from 73 patients (73 parent reports and 28 self-reports). Parent proxy and self-report PROMIS measures assessed HRQoL across treatment phases (early intensive, maintenance, and off treatment) and disease risk groups (standard vs high). Analyses assessed the relationship between parent proxy and patient self-reports and the differences in HRQoL among treatment phases and risk groups. Parent proxy reports generally indicated worse fatigue, pain interference, and mobility compared with patient self-reports. Self-reports in the early intensive treatment group suggested worse depressive symptoms, fatigue, mobility, and upper extremity function compared with those in later phases. Parent proxy reports showed worse fatigue and depressive symptoms in early intensive treatment group relative to those in later phases. Patient self-reports in the maintenance group demonstrated the best peer relationships scores. Parent proxy reports in the high-risk group reported significantly higher depressive symptoms and fatigue compared with the standard-risk group. Differences in HRQoL suggest targets for further assessment and intervention. The early treatment and immediate post-survivorship periods may represent particularly critical time points. Longitudinal studies with larger and diverse samples should further explore HRQoL trajectories in this population.

Quality of life in childhood immune thrombocytopenia: Revision of the Kids' ITP Tools (KIT).

The Kids ITP Tools (KIT) is a health-related quality of life (HRQoL) questionnaire that evaluates quality of life in children with immune thrombocytopenia (ITP). There are three formats: Child Self-Report, Parent Proxy-Report and Parent Impact-Report. This study aimed to develop a domain structure by grouping-related questions from the questionnaire into domains that independently reflect various aspects of HRQoL. The study was conducted in two phases. Phase 1 involved an online survey distributed to experts to identify conceptual domains for the KIT. Phase 2 utilized a statistical approach to analyse responses from patients with ITP and their families. A revised KIT 2.0 was ultimately developed to aid in treatment decision-making and monitoring of ITP.

Alignment of parent-proxy report and teen self-report of adverse childhood experiences among U.S. teens

PurposeData on adverse childhood experiences (ACEs) among teens is collected using a single informant, a parent-proxy, or teen self-report. Little is known about alignment between these approaches. MethodsSurveys were administered online to teens ages 15–17 and their parents (n = 522 dyads) using the AmeriSpeak panel. We present descriptive statistics on the prevalence and measures agreement for 18 ACEs based on teen self-report and parent-proxy report. We fit multivariable models examining associations between teen and household demographic characteristics and discordance in ACE report. ResultsBased on teen-self report and parent-proxy report, cumulative and individual ACE prevalence was overall similar. However, discordance was found in individual ACE reports within teen-parent dyads (discordance ranged: 2.9–21.2 %). Lowest agreement was among ACEs related to abuse, neglect, and violence victimization and highest among household challenges. Furthermore, parent-teen dyads with LGB+ youth (vs. heterosexual) and Black, Hispanic, and multiracial or another race (vs. White) youth were more likely to have discordant responses among several ACEs. ConclusionsSurveillance and programmatic efforts should consider the type of ACE and the reporter when using data to inform prevention strategies. Teen self-report for abuse, neglect, and violence victimization and community challenges ACEs are particularly important to capture.

Development and validation of a short version of the quality of life-DSD questionnaire for parents of young children with conditions affecting sex development.

There is a paucity of information on health-related quality of life (HRQoL) outcomes in parents and children with conditions affecting sex development. The objective of this study was to develop short forms of HRQoL questionnaires which consist of a 63-item and 25-item parent self-report (PSR) and parent proxy-report (PPR), respectively, optimizing use in routine clinical settings. Short questionnaires were developed following exploratory factor analysis using raw data from 132 parents. Long and short PSRs were completed by 24 parents of children with conditions affecting sex development, with a median age of 3.6 years (range 0.1, 6.6); 21 (88%) were boys, and 11 (46%) had proximal hypospadias. A subset of 19 parents completed both long and short PPRs. Item selection, based on factor loadings of >0.8 and expert consultation, produced short PSRs and PPRs containing 16 and 7 items, respectively. There was no statistically significant difference in 11 out of 12 (92%) scales on the PSR and 4 out of 5 (80%) scales on the PPR when comparing short and long questionnaire scores. The short and long questionnaires took <1 min and 5 min to complete, respectively. Eighteen parents (75%) reported that the time taken to complete the short questionnaires was acceptable; 10 (42%) preferred short questionnaires. Ten (42%) versus 6 (25%) stated a preference for completing the short versus long questionnaires. The short versions were largely representative of the long questionnaires and are acceptable for evaluating psychosocial distress in young children and their caregivers. Further psychometric validation of the short forms is warranted.

“Gastrointestinal Quality of Life After Congenital Duodenal Obstruction Repair: A Nationwide Long-term Follow-up Study”

BackgroundCongenital duodenal obstruction (CDO) is one of the most common gastrointestinal congenital anomalies. Still, patient-reported long-term results are limited. The aims of this study were to evaluate the long-term gastrointestinal quality of life (QoL), generic QoL, patient-reported scar appearance, and reinterventions after CDO repair. MethodsPatients who underwent surgery for CDO in Norway from 1995 to 2020 were invited to answer the validated questionnaires PedsQL and PedsQL gastrointestinal symptom scale and a study-specific questionnaire on general health and scar assessment. Parent-proxy reports were used for patients <12 years and patients with cognitive impairment. Scores were compared with an American and Norwegian control group for gastrointestinal and generic QoL, respectively. ResultsOf 186 eligible patients, eight were deceased, 25 had unretrievable contact information, and 79 did not respond. There were no significant differences between included (n = 74) and not included (n = 112) patients regarding baseline data. The mean follow-up time was 13.3 (SD = 6.6) years. Patients with CDO had significantly lower overall gastrointestinal QoL than controls (85.9 versus 90.0, p = 0.010). The most common symptoms were gas/bloating, constipation, food/drink limits, and reflux. Generic QoL was similar between the CDO population and controls (84.4 versus 85.3, p = 0.530). Twenty-one (28 %) patients had some degree of pain and/or concern related to the surgical scar. Nine (12 %) patients had reoperations related to the CDO repair; four due to adhesive small bowel obstruction. ConclusionA notable portion of patients report troublesome gastrointestinal symptoms and cosmetic concerns regarding their surgical scar after CDO repair. Even so, generic QoL was good. Level of evidenceIV.

Comparative analysis of health-related quality of life between children with bladder and bowel dysfunction versus lower urinary tract dysfunction and healthy controls.

This study aimed to compare health-related quality of life (HRQoL) between children with bladder and bowel dysfunction (BBD) and lower urinary tract dysfunction (LUTD) alone and healthy controls based on self-report forms and parent-proxy report forms. In this retrospective study, clinical records were reviewed. Children with LUTD, with or without bowel dysfunction, and healthy children were included in this study. The dysfunctional voiding scoring system and Rome IV Diagnostic Criteria were used to assess lower urinary tract symptoms. The Rome IV Diagnostic Criteria was also used to evaluate bowel symptoms. The Pediatric Quality of Life Inventory 4.0 (PedsQL) questionnaire was administered to investigate pediatric HRQoL. Of the total 252 children (mean age, 7.3±2.1 years) who participated in this study, 78 were classified into the BBD group and 174 into the LUTD group. Compared with the control group, the BBD group had significantly lower total PedsQL scores (p<0.001) and psychosocial healthy summary scores (p<0.001). The BBD group had significantly lower emotional functioning scores than the LUTD group (p=0.023). Children with BBD who presented with fecal incontinence (FI) had a significantly lower social functioning score than those without FI (p=0.023). Children with BBD who present with FI are at higher risk of decreased psychosocial HRQoL, and they require special emotional support. These findings underscore the need for effective treatment and follow-up to improve the HRQoL of children with BBD who presented with FI.

Stigma, seizure self-efficacy, and quality of life in children with epilepsy.

In addition to seizure care, it has been well-established that a holistic approach to the treatment of children with epilepsy that addresses the social, behavioral, and psychological dimensions also benefits their quality of life (QoL). The aim of this study was to investigate the patient and parental perceived stigma, seizure self-efficacy of children with epilepsy, and the relationship with quality of life in terms of sociodemographic and epilepsy-related factors. The study group consisted of children, aged between 8 and 18years and with a diagnosis of epilepsy of at least six months duration and their parents. Pediatric Quality of Life Inventory (PedsQL), Child-Parent Stigma Scales, and the Seizure Self-Efficacy Scale for Children (SSES-C) were used for evaluation. One hundred and forty-four children (mean age 12.6 ± 2.9years) took part, of whom 48.6% were female. The mean Child Stigma Scale score was 1.77 ± 0.82, Parent Stigma Scale score 2.41 ± 0.75, SSES-C score was 3.37 ± 0.98, and PedsQL score was 72.8 ± 18.6 for children self-reports (CsR) and 73.2 ± 18.8 for parent proxy-reports. The intraclass correlation coefficient for parent-child PedsQL indicated a good level of agreement. There was a significant negative correlation between the Child Stigma Scale and the PedsQL-CsR scores. A significant positive correlation was identified between the SSES-C scores and the PedsQL-CsR scores. Perceptions of stigma in children with epilepsy and their parents were high in this study population. Of note, the elevated stigma perception reported by the patients had a detrimental impact on seizure self-efficacy. This relationship may affect the children's QoL and further complicates epilepsy management in this patient group.

Agreement between child self-report and parent-proxy report for functioning in pediatric chronic pain

PurposeAccurate assessment of chronic pain and functional disability in children and adolescents is imperative for guiding pain management interventions. Parents have multifaceted roles in their child’s pain experience and frequently provide parent-proxy reports of pain-related functioning. However, cross-informant variance is often observed with limited understanding of contributing factors. This study aims to examine the degree of alignment between child and parent-proxy reports for Patient-Reported Outcomes Measurement Information System (PROMIS) pain interference domain among children with chronic pain and to identify factors associated with improved child-parent agreement.MethodsThis study includes a sample of 127 youth (66.1% female) with mixed etiology chronic pain, ranging in age from 8 to 17 (M = 12.24; SD = 1.598), and their parent. Data was collected at an interdisciplinary pediatric pain clinic and online peer support groups. Measures of demographic, pain intensity, and functioning were collected.ResultsMeans of parent-proxy reports were significantly lower than child self-reports on the PROMIS (p < 0.05). A statistically significant association between child’s pain intensity (β = 0.953, P < 0.05) and the difference between child self-reported and parent-proxy reported PROMIS functional interference scores was found.ConclusionParents underestimated pain-related functional disability relative to children’s self-reports. The difference between the paired child self-report and parent-proxy report of functional disability was significantly associated with greater child self-reported pain intensity. Although parent-proxy reports in pediatric chronic pain is often used in research and practice, findings underscore the importance of incorporating child and adolescent self-report, when possible, to comprehensively capture the child’s pain experience and best inform clinical interventions.

The Swedish PedsQL gastrointestinal symptoms scale and symptoms module showed good psychometric performance.

There is no validated symptom scale for Swedish children with gastrointestinal disorders. Our aim was to validate the Swedish version of the Paediatric Quality of Life Inventory (PedsQL) gastrointestinal symptoms scale and symptoms module. Families were recruited from two hospitals in Gothenburg, Sweden, from 1 March 2021 to 31 October 2022. The instruments were completed by 115 children with functional, congenital or organic acquired gastrointestinal disorders and 149 of their parents. These were the gastrointestinal symptoms scales, symptoms module and the 4.0 Generic core scale. Data were analysed for feasibility, construct validity and reliability, including internal consistency, re-test reliability and child-parent agreement. Feasibility was good, with a failure to respond of ≤5%. Construct validity showed strong correlation in the PedsQL gastrointestinal symptoms module. The known-group validity agreed with the expectations associated with the disease characteristics (p < 0.05). Cronbach's alpha was 0.96, which indicated excellent internal reliability. The intraclass correlation coefficient for the child self-report and parent-proxy report was 0.74, which indicated good agreement. The Swedish PedsQL Gastrointestinal Symptoms Scales, the symptoms module provided acceptable measurement properties and can be used to evaluate symptoms of gastrointestinal disorders and quality of life during clinical work or research projects.

Intradyadic Correlation Between Parent-reported and Child-reported Quality of Life in Patients With Anorectal Malformation and Hirschsprung's Disease in Comparison to Healthy Controls

BackgroundQuality of life (QOL) is an important clinical endpoint in paediatric chronic conditions. How parent-proxy reports differ from child self-reported QOL in patients with anorectal malformation (ARM) and Hirschsprung's disease (HD) has not been well examined to date. This study evaluates agreement between parent-proxy and child-reported QOL scores in ARM and HD patients compared to healthy controls. MethodsWe recruited ARM and HD patients aged 5–17 years and their parents at four tertiary referral centres between December 2020 to February 2023 who had corrective surgery done >12 months prior. Healthy controls were age-matched and gender-matched. They completed the Pediatric Quality of Life Inventory™ (PedsQL™) Generic Core Scales and General Well-Being (GWB) Scale. The questionnaires were administered in parallel parent-proxy-report and child self-report formats. Appropriate statistical analysis was performed with p < 0.05 significance. Data are reported as median (interquartile range). Ethical approval was obtained. ResultsThere were 65 ARM, 54 HD and 83 controls. There were no significant differences between parent-reported scores and child-reported scores overall in the Total, Psychosocial Health and Physical Health components of Core Scales for ARM, HD and controls. However, parent-reported scores were significantly higher than child-reported scores overall in ARM, HD and controls in the GWB Scale. ConclusionOur findings show that parent-rated and child-rated overall QOL was similar in Core Scales for ARM, HD, and controls. However, parents overestimated child's overall GWB for ARM, HD and controls. This highlights the importance of capturing the perspectives of both parents and children to inform strategies to improve patient care. Level of EvidenceLevel III.

QOL-40. FAMILY MENTAL HEALTH SCREENING EARLY AFTER A DIAGNOSIS OF PEDIATRIC BRAIN TUMOR

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.

Quality of life and functional vision in adolescents with surgically treated hydrocephalus in infancy.

To evaluate health- and vision-related quality of life (HR- and VR-QoL) and perceptual visual dysfunction (PVD) in adolescents with hydrocephalus surgically treated in infancy. In total, 23 adolescents (15 males and 8 females; median age 14.9 years) with hydrocephalus and 31 controls were evaluated using validated instruments to measure HR-QoL and VR-QoL. PVDs were reported by history taking in five areas: recognition, orientation, depth, movement and simultaneous perception. Adolescents with hydrocephalus and the parent proxy reports showed lower mean total Paediatric Quality of Life Inventory 4.0 scores (75.8 and 63.7, respectively) compared with controls (87.6 and 91.5), p = 0.016 and p < 0.0001. Parent-reported scores were lower than self-reported scores (p = 0.001). Adolescents with myelomeningocele (n = 10) showed lower physical health scores (p = 0.001). No VR-QoL difference was found between groups. PVDs were reported in ≥1 area by 14/23 hydrocephalus participants and 2/31 controls (p < 0.0001). Associations were found in the hydrocephalus group between VR-QoL and HR-QoL (rs = 0.47, p = 0.026) and number of PVD areas (rs = -0.6, p = 0.003). Adolescents with hydrocephalus and their parents reported lower HR-QoL and more PVDs. These problems indicate the need for not only ophthalmological follow-ups but also evaluation of QoL and PVDs in individuals with infantile hydrocephalus.

Impact of early phase study enrollment for pediatric oncology patients on symptom burden and quality of life (QOL): Early report of trial-in-progress results.

e23195 Background: Pediatric patients with relapsed or refractory malignancy have few options. The quality of life (QoL) impact for enrolling in a phase I or II trial compared to those not participating is unknown. This information is invaluable to the consenting process as well as to clinical trial design. The primary aim was to determine if those enrolled on a phase I or II trial had lower scores on the Symptom Screening in Pediatrics Tool (SSPedi) total score compared to those not enrolled on a trial. Methods: This Canadian multi-site study had nine sites open for accrual. SSPedi was calculated based on patient reports for 8-18 years and parent-proxy reports for all children. The total score is the sum of 15 items’ 4 Likert scale scores, score ranges from 0 to 60 (worst possible). Scores from baseline, 4 weeks and 8 weeks of those enrolled on an early phase trial were compared to those who did not enroll in such trials. Results: Of the 54 49 patients, 21 (43%) patients were enrolled on an early phase trial and 28 (57%) patients were not enrolled in a study. For those enrolled on the study at enrollment time, 4 weeks and 8 weeks time points, the total SSPedi score for the participant mean was 11.1 (SD 8.1), 9.2 (SD 6.3) and 10.1 (8.3) respectively compared to those not enrolled on a study with mean scores at the same time points of 13.8 (SD 8.6), 13.5 (SD 9.4), and 15.4 (SD 12.6). Conclusions: These results suggest that it is feasible to evaluate patients enrolled and not enrolled on early phase trials, and to compare their symptom experience. Further efforts will focus on more recruitment and using the PedsQL 3.0 Acute Cancer Module to further define differences in QoL. The results suggest that those enrolled in an early phase trial had an improved quality of life compared to those non-enrolled. This research is supported through granting from the C17 Council and Kindred Foundation. [Table: see text]

Health-related quality of life in children with childhood acute myeloid leukemia in China: A five-year prospective study

PurposeThis study aims to identify the key factors influencing health-related quality of life (HRQoL) of pediatric acute myeloid leukemia (AML) patients following their initial diagnosis and examine their impact on the five-year survival prognosis. MethodsA chart review and follow-up were conducted for children with AML who participated in a prospective cohort study between 2017 and 2020. We identified factors influencing HRQoL through Pediatric Quality of Life Inventory™ (PedsQL™ 4.0), PedsQL™ Cancer Module 3.0 (CM 3.0) and PedsQL™ Family Impact Module 2.0 (FIM 2.0), as well as assessed the impact of impaired HRQoL on the overall outcomes of patients. ResultsSixty-four subjects enrolled in the study had complete HRQoL outcome data, and 61 of them completed the 5-year follow-up. In CM 3.0, age was positively associated with parental proxy reports (p = 0.040), whereas divorced families were negatively associated with child self-reports (p = 0.045). A positive medical history correlates with FIM 2.0 (p = 0.025). Residence (p = 0.046), the occupation of caregivers (p = 0.014), disease severity (p = 0.024), and the only child (p = 0.029) exhibited statistically significant associations with the impairment of HRQoL. Impaired HRQoL scores shown by the PedsQL™4.0 parent proxy report (p = 0.013) and FIM 2.0 (p = 0.011) were associated with a reduced 5-year survival rate. ConclusionsThis study demonstrated that early impairment of HRQoL in pediatric acute myeloid leukemia patients has predictive value for long-term prognosis. Once validated, these findings may provide some guidance to clinicians treating children with AML.

Quality of Life of Children with Short Bowel Syndrome from Patients' and Parents' Points of View.

Despite limited research, existing studies using generic quality of life (QOL) tools indicate decreased physical health and compromised emotional functioning in children with IF. This study investigates QOL in children with short bowel syndrome (SBS) and its determinants. The study included 57 pediatric patients with SBS treated at Mannheim's University Hospital between 1998 and 2014. To evaluate QOL, the KINDL questionnaire was used. Three age-specific questionnaire variants were employed, and parental proxy reports were collected. Most patients underwent intestinal lengthening procedures, with varying primary diagnoses. A comparison with healthy children from the patient's perspective revealed no difference but from the parent's perspective showed lower QOL in SBS patients, especially regarding physical and mental well-being. QOL varied with age, with 7-10-year-olds reporting the lowest scores. Several factors, including independence from parenteral nutrition and the presence of a complete colon, positively influenced QOL. The independence of parenteral nutrition and the presence of a complete colon positively influenced QOL. The Bianchi technique for intestinal lengthening has also shown promise but needs further research. The observation sample in this study is too small to generalize about the whole population of SBS patients. However, this study shows that many health and treatment factors affect QOL, and a large multicenter study is necessary. Our findings underline the importance of appropriate psychological support for children with SBS and their families.

Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial

BackgroundAtaxia telangiectasia (AT) is an autosomal recessive multisystem disorder. Most patients have progressive cerebellar ataxia, oculocutaneous telangiectasia, frequent pulmonary infection, and an increased risk of malignancies. Although N-acetyl-dl-leucine (ADLL) has shown some efficacy in patients with AT, its more pharmacologically active enantiomer, N-acetyl-l-leucine (NALL), has just recently been investigated in ataxic individuals. The current study assessed the efficacy of NALL in patients with AT. MethodsThis 2 × 2 crossover, double-blind, randomized clinical trial was conducted on 20 patients with AT. After excluding four patients, 16 subjects (eight females, eight males; mean age 9.8 ± 3.5 years) with a definitive genetic diagnosis of AT were randomly assigned to one of two study groups, with one group receiving 1–4 g/day NALL or a placebo for six weeks. Subjects then had a 4-week washout before crossing over to the other treatment for an additional six weeks. The Spinocerebellar Ataxia Functional Index (SCAFI) and the Scale for Assessment and Rating of Ataxia (SARA) score assessed patients' motor function. Quality of life (QOL) was evaluated by a specialist using the PedsQL questionnaire. Fasting blood samples were taken from all subjects before and after each intervention to determine potential side effects. ResultsAlthough patients' nausea and constipation were improved, the results failed to reveal any significant benefits of NALL treatment on ataxia symptoms. NALL treatment had no significant effects on SARA, SCAFI-9HPT (9-hole peg test) nondominant, SCAFI-9HPT dominant, or SCAFI-8WMT (8 m walking time) (p > 0.05). Our patient's Physical Health score in Child self-report and Parent proxy-report did not significantly change in the treatment group compared to the placebo (p > 0.05). Furthermore, there were no significant changes in energy and macronutrient intake after NALL treatment. None of the volunteers reported serious or moderate side effects. ConclusionsTo the best of our knowledge, this was the first placebo-controlled, randomized clinical trial exploring NALL's potential effects for treating AT. Despite improvements in some symptomss, NALL intervention failed to improve motor function significantly. However, patients' nausea and constipation were improved by NALL, which can be a relevant benefit clinically.

Health-related quality of life in paediatric patients on peritoneal dialysis: Data from a tertiary centre.

Kidney failure has a negative impact on both children and families' quality of life (QOL). We evaluated the burden of home peritoneal dialysis (PD) using two local questionnaires and the French version of PedsQL3.0 end-stage kidney disease module and family impact module. Data are expressed as median (min-max). We reviewed the charts of 12 patients, at a median age of 8.8 (1.2-16.7) years, undergoing maintenance PD for 8 (1-42) months. Parathyroid hormone and haemoglobin levels were 215 (17-606) ng/L and 117 (104-141) g/L, respectively. Patients were taking 7 (3-10) different medications, corresponding to 9 (4-17) doses per day. The PD fluid volume per cycle was 1035 (723-1348) mL/m2 with a dwell duration of 75 (60-90) min and 6 (5-9) cycles per night. On a 2-week period, there were 2 (1-11) alarms per night resulting in 2 (0-8) times waking up and getting out of the bed for the parent(s); families were late 1 (0-11) times for school or parent's work. The time spent to connect and disconnect the cycler to the patient was 30 (12-46) min per day. QOL score on child self-report was correlated positively with weight percentile for age (R = 0.857; p = 0.014) and negatively with the number of siblings (R = -0.917; p = 0.004). The children QOL was evaluated higher by self-report scores: 77 (59-87) than by parent-proxy report scores: 53 (29-74), respectively (p = 0.028). PD children/teenagers and their caregivers can feel overwhelmed by the daily home therapy. Self-report and parent-proxy report QOL were significantly different, and it is questionable whether the parent-proxy report QOL relies rather on parents' own QOL.

Quality of life in a cohort of Kenyan children with cerebral palsy

AimThe objective of the study was to evaluate the quality of life in Kenyan children (age 4–18 years) with cerebral palsy (CP). MethodsA cross-sectional descriptive study was conducted. Children with CP were recruited from the pediatric clinics at the Aga Khan hospital Nairobi (AKUHN). Parent proxy-reports using CPQoL-child and CPQoL-adolescents were obtained. Clinical and demographic data were compiled from medical records and parent interviews. A Likert scale was utilized to determine QoL across several domains. ResultsOne hundred and fourteen child–parent dyads with CP were recruited. The median age of study participants was 8 years (IQR 3–13 years), with males being the majority (57.02 %). Parent proxy-reports using CPQoL-child scale were obtained for n = 93 and CPQoL-adolescents for n = 21 respondents. Parents in both groups reported low domain QoL scores pertaining to function, family health and rehabilitation service accessibility. InterpretationStigma, accessibility to services, therapies and schooling, particularly for children with severe functional limitations, remains a concern. Caregivers would benefit from awareness campaigns of available supports and from local community respite programs. Where national support systems exist, there are critical inefficiencies in service delivery to target population.