PedsQLTM Family Impact Module Research Articles

Cardiovascular malformation associated with esophageal atresia

Abstract Background Congenital heart disease (CHD) is the commonest abnormality associated with esophageal atresia (EA). EA is a rare congenital malformation occurring in 3-4 in 10,000 births, in 87% occurs along with a distal tracheoesophageal fistula (TEF). The coexistence of a cardiac malformation and in addition, prematurity can be challenging and affects the further treatment and quality of life (QOL) of the child and family. Knowledge of the anatomical type and physiological consequences of CHD allows a well-coordinated treatment plan. Purpose The aim of this paper is to investigate whether the presence of underlying associated malformations, disease-specific problems and prematurity would have a considerable influence on the family of a child after surgical repair of EA. Methods We used a crossed-sectional questionnaire study. The impact of EA was assessed using an Authors-Designed Questionnaire (ADQ) to collect medical and sociodemographic background data (gestational week (HBD), comorbidities, type of EA, according to the Gross classification) as well as standardized questionnaire: the PedsQL™ Family Impact Module (PedsQL-FIM). Results Of the 76 children born with EA/TEF included in this study, 26% had a vascular malformation. Mean age was 5.3 years (SD = 3.7 years). Cardiovascular malformation associated with EA significantly (p=0.037) affects the functioning of the family in the emotional domain (FIM – ED). The QOL (p < 0,034) of children born before 37th HBD is lower that children born in term The presence of concomitant anomalies does affect the overall generic QoL. No statistical correlation was found between the type of anomaly (with/without TEF) and patients' QoL. Conclusions Cardiovascular malformation and prematurity significantly affect child’s QOL and the functioning of the family with EA. Patients who have undergone EA treatment require specialist outpatient care, not only in the first years of life, but also in adolescence and adulthood.

Quality of life in pediatric patients on a paracorporeal ventricular assist device with a novel mobile driving system

BackgroundEXCOR VAD is the gold standard circulatory support for children with end-stage heart failure. Until recently, the only available driving unit was the stationary Ikus. This study (NCT04634708) investigates the impact of the novel mobile EXCOR Active driving unit on patients’ mobility and the quality of life (QoL) of their families. MethodsChildren on EXCOR VAD support with the Ikus who were mobilizable outside the hospital room were eligible for the prospective study. Patients remained on Ikus for 7 days, then switched to Excor Active and were observed for another 45 days. The endpoints were the rates of clinically relevant device exchanges (i.e., exchanges that could raise safety concerns for the patient) and successful patient outcomes, respectively. QoL of patients’ families was recorded through two validated questionnaires: the PedsQLTM Family Impact Module and DASS 21. Patients’ mobility and activity levels were monitored through diary entries. ResultsA total of 24 patients were enrolled of which 23 patients completed the study. No clinically relevant device exchanges occurred and there was a successful outcome in 22/23 (95.7%) patients. Changing from the Ikus to the EXCOR Active improved QoL as seen in family impact total score (from 53.8±19.8 to 66.5±20.8, p=0.005) and mental health (depression: moderate to mild, stress moderate to normal, both p < 0.05; anxiety: mild to normal, n.s.). Activity levels raised in both, mean time (from 100 to 300 minutes/day, p=0.011) and distance (from 30 to 1,110 meters/day, p=0.002). ConclusionsThe EXCOR Active driving unit is safe and performs equivalent to Ikus. This study indicates considerable improvement in patients’ mobility. In addition, data suggests that families’ QoL is positively affected by means of the novel driving unit.

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.

From Genotype to Phenotype of Polish Patients with Pitt-Hopkins Syndrome concerning the Quality of Life and Family Functioning.

Background: Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder affecting psychomotor, social, and intellectual development, caused by a mutation in the TCF4 gene. The study aims to gather the phenotype and genotype data of PTHS patients from Poland and to assess the quality of life (QoL) and the impact of the disorders on the family. Methods: Eight families with PTHS participated in the study. To obtain data, the following standardized questionnaires were used: Questionnaire on Clinical Problems (QCP), the PedsQL™ Family Impact Module, and the QL-Disability Questionnaire. Additionally, a retrospective analysis of clinical examination, genetic consult, medical history, and genotype of each individual was performed. Results: All of the examined children exhibited a mutation in the TCF4 gene and typical features of PTHS. The most prevalent clinical symptoms in the study group included typical PTHS appearance, intellectual disability (n = 5; as the rest of the patients were too young to be assessed), abnormal speech development (n = 8), reduced pain response (n = 7), constipation (n = 7), drooling (n = 7), cold extremities (n = 7), and disturbances in sensory integration processes (n = 7). The QL-Disability Questionnaire revealed a total QoL score of 67.7/100 for children with PTHS, while the QoL for their families in the PedsQL Family Impact Module was 53.82/100. The highest-rated domain was cognitive functioning (Median (Me) = 67.50; Standard Deviation (SD) = 21.95), while the lowest was daily activities (Me = 25.00; SD = 29.86). Conclusions: The study allowed the collection of data on the phenotype and genotype of children with PTHS living in Poland. Overall, our study showed that the QoL of children with PTHS is impaired.

The Impact of Raising Children with Barth Syndrome on Parental Health-Related Quality of Life and Family Functioning: Preliminary Reliability and Validity of the PedsQL™ Family Impact Module.

This study examined the preliminary reliability and validity of the PedsQL™ Family Impact Module (PedsQL FIM) in families of children with Barth syndrome (BTHS). A total of 72 parents with children or youth between the ages of 5 and 19 participated in this study. Thirty-three parents of children with BTHS and 39 parents of unaffected children completed the PedsQL FIM and a demographic information form. Internal consistency reliability and item-total correlations were calculated to test the reliability of the PedsQL FIM. Construct validity was examined using the known-groups method. We estimated the mean score differences of the PedsQL FIM between the two groups using three different models, including unadjusted, multivariate regression, and propensity score matching with inverse probability of treatment weighting (PS-IPTW) models. The Cronbach's alpha coefficients were greater than 0.70 for all scales of the PedsQL FIM, except for the communication scale. The item-total correlations were significant for all scales with moderate to high correlations (p < .05). In construct validity, the mean scores of the PedsQL FIM between the two groups were significantly different (p < .05) for all scales and total score in the unadjusted and PS-IPTW models. However, in the multivariate regression model, the family relationships scale was not significant between the two groups. The PedsQL FIM demonstrated adequate measurement properties of preliminary reliability and validity in assessing the impact of children with BTHS on parental health-related quality of life (HRQoL) and family functioning. Further research needs to be conducted to examine the psychometric properties of the PedsQL FIM with a large sample of BTHS and with other pediatric rare diseases.

Economic burden and health-related quality of life in patients with neurofibromatosis type 1 in Greece

Abstract Background Neurofibromatosis (NF) is a group of rare genetic disorders characterized by the development of tumours that may affect the brain, spinal cord, and the nerves that send signals between the brain and spinal cord and all other parts of the body. The disease burden on Greek patients and caregivers is unknown. Objective The aim of this study is to determine the societal economic burden and health-related quality of life (HRQoL) of families with neurofibromatosis type 1 (NF1) in Greece. Methods A cross-sectional study was conducted in which an online questionnaire was completed by NF1 patients and their caregivers. A cost of illness model was developed in which costs per NF1 patient were calculated from a societal perspective and extrapolated to the total affected population in Greece. Finally, the 36-item PedsQL™ Family Impact Module was used to measure the HRQoL of families with NF1 members. Results The economic burden of NF1 was estimated at €21,594 per patient in 2022. When extrapolating this outcome across all affected persons, the average annual cost was €56,319,583. Out-of-pocket expenses accounted for 10% of the total. Results of the analysis on HRQoL indicated a significant burden on family members representing the caregivers of NF1 patients with the majority of scores falling below 50 and a mean total score of 45. Conclusions The results highlight the considerable burden of NF1 not only in terms of the high costs but also in terms of reduced HRQoL for patients’ families.

Health-related quality of life and family functioning of primary caregivers of children with down syndrome.

Down Syndrome (DS; OMIM #190685), known as trisomy 21, is one of the most common genetic disorders in the human population and the commonest known cause of intellectual disability. The study was conducted to investigate the quality of life (QoL) of children with DS syndrome and its impact on family functioning. To assess the quality of life of children with trisomy 21 and the impact of the disorder on the family. We used a cross-sectional questionnaire study. The respondents were 52 parents of children with trisomy 21. The following structured questionnaires were used: the PedsQL™ 4.0 Generic Core Scales, the PedsQL™ Family Impact Module and Study-Specific Questionnaire (SSQ). The combined scores, with a mean value of approximately 55 out of a possible 100 points, indicated a significant impact of the child's genetic defect on family functioning. In the overall QOL, the highest rated domain was physical functioning (x̅ =60.14; SD = 23.82) and the lowest was school functioning (x̅ =51.36; SD = 18.72). Better school functioning (p = 0.022) was reported for girls. The presence of reduced muscle tone also had a negative impact on the child's functioning in the physical (p = 0.036), emotional (p = 0.011), psychosocial (p = 0.027) and overall QOL domains (p = 0.023). Overall, our results showed that the quality of life of children with trisomy 21 is impaired. There was a positive association between the child's QOL and the QOL of their parents, as well as the general functioning of the child's whole family. For this reason, an improvement in the QOL of parents and the family functioning is closely related to an increased QOL of the child. The continuous deepening of knowledge of QOL in individual trisomy 21 management allows for better preparation and ongoing care for the patients concerned.

Social/ economic burden and health-related quality of life in patients with Spinal Muscular Atrophy (SMA) in Greece

Objective: The objective of this study was to determine the economic burden and health-related quality of life (HRQoL) of patients with SMA and their caregivers in Greece, which is still unknown, and explore the economic impact of the implementation of a reproductive carrier screening (RCS) program. Methods: A cross-sectional study was conducted in which an online questionnaire was completed by caregivers of SMA patients. A cost of illness (COI) model was developed in which costs per patient were calculated from a societal perspective and extrapolated to the Greek SMA population. Parents’/caregivers’ HRQoL was measured using the 36-item PedsQL™ Family Impact Module. Resources for the implementation of RCS program were estimated and its short-term impact was assessed. Results: The COI was estimated at €261,785 per patient in 2022. When extrapolating this across all affected persons, the average annual cost ranged from €49,739,395 to €91,036,017 depending on the prevalence considered. Out-of-pocket expenses accounted for 8% of the total. Results of the analysis on HRQoL indicated a high burden on parents/ caregivers with the majority of scores falling below 50 and a mean total score of 45. Depending on the scenario used, an RCS program could save the Greek healthcare system at least €167,181 or increase its costs by €564,804. Conclusions: SMA imposes a significant economic burden in affected patients, caregivers, and health care system. The cost-saving magnitude of a potential implementation of a CRS program is dependent on the parents' reproductive choices following a positive screening result.

Tonsillectomy reduces the family impact of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome and improves health-related quality of life in affected children

BackgroundPeriodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is an autoinflammatory disorder that primarily affects young children, and typically gives rise to fever episodes that recur monthly for several years. This study investigated the impact of PFAPA syndrome on the families of affected children, the health-related quality of life (HRQOL) of children with the syndrome, and how these factors were influenced by tonsillectomy.MethodsThis prospective cohort study included 24 children with typical PFAPA syndrome that were referred for tonsillectomy, of whom 20 underwent the procedure. The control group consisted of randomly selected children from the general population. Family impact and HRQOL were measured using the standardized, validated questionnaires Pediatric Quality of Life Inventory™ (PedsQL™) Family Impact Module (FIM) and PedsQL™ 4.0 Generic Core Scales (GCS). Parents to children with PFAPA completed the questionnaires before and 6 months after their child underwent tonsillectomy, and HRQOL was measured both between and during PFAPA episodes. The Wilcoxon signed-rank test was used to compare data before and after tonsillectomy in the patient group, while the Mann–Whitney test was used for comparison of the patient and control groups.ResultsBefore tonsillectomy, children with PFAPA had significantly lower scores than the control group on the PedsQL™ FIM and the PedsQL™ 4.0 GCS during fever episodes. After tonsillectomy, all patients improved with diminished febrile episodes, which resulted in significantly higher scores regarding both family impact and HRQOL at the time of follow-up. HRQOL of in children with PFAPA improved after tonsillectomy even when compared to afebrile intervals before the procedure. The differences between PFAPA patients and controls were eliminated after tonsillectomy.ConclusionPFAPA syndrome has a profound negative impact on the families of affected children. Tonsillectomy that leads to cessation or reduction of fever episodes eases the impact of the disease on the family. HRQOL in children with PFAPA is low during febrile episodes and similar to healthy controls in between episodes. The improvement of HRQOL in patients with PFAPA after tonsillectomy compared to the afebrile intervals before tonsillectomy highlights that the constantly recurring fevers may affect the children’s well-being even between fever episodes.

Caregiver quality of life after pediatric tracheostomy.

To determine the impact of a child with a tracheostomy on caregiver quality of life. A repeated cross-sectional analysis included families with tracheostomy-dependent children between 2019 and 2021. Caregivers were surveyed using the PedsQL™ Family Impact Module with assessments at tracheostomy placement and during ambulatory office visits. Two-hundred and fifty-five surveys were performed with 66 at tracheostomy placement (26%) and 189 at follow-up visits (74%). Compared to families with healthy children, total scores at placement (77.2 vs. 87.6, P<.001) and follow-up visits (78.9 vs. 87.6, P<.001) were significantly lower among pediatric tracheostomy families. Caregivers were likely to report significant improvement in emotional functioning (6.2 points; 95% CI: 0.5-12, P=.03) and worry (9 points, 95% CI: 2.1-15.9, P=.01) over time. Demographic variables demonstrated no confounding or interactive effects. The presence of a tracheostomy is associated with lower caregiver quality of life scores in the short- and long-term compared to caregivers of healthy children. Providers should be sensitive to these challenges and provide appropriate support for families of tracheostomy-dependent children.

Factors of family impact in a Swedish–German cohort of children born with esophageal atresia

BackgroundAfter repair of esophageal atresia (EA), childhood survivors commonly present with digestive and respiratory morbidity, and around 55% have associated anomalies. Although it is known that these problems can reduce health-related quality of life in children with EA, less is understood about the impact on the family. We aimed to identify factors related to family impact in children with EA.MethodsOne parent each of a child with EA (2–18 years) in 180 families from Sweden and Germany answered the PedsQL™ Family Impact Module as the dependent variable. The independent variables were the child’s parent-reported health-related quality of life as measured by PedsQL™ 4.0, current symptoms, school situation, and parent/family characteristics together with child clinical data from the medical records.ResultsStepwise multivariable regression analysis showed a multifactorial model of the total family impact scores (R2 = 0.60), with independent factors being the child’s overall generic health-related quality of life, school-absence ≥ 1/month, severe tracheomalacia, a family receiving carer’s allowance, and a parent with no university/college education, p < 0.05. Logistic regression analysis showed that an increased number of symptoms in the child the preceding 4 weeks lowered the family impact scores; however, the child’s feeding (R2 = 0.35) and digestive symptoms (R2 = 0.25) explained more in the variation of scores than the child’s respiratory symptoms (R2 = 0.09), p < 0.0001.ConclusionsFamily functioning may be a contributing factor to the maintenance of child health. The study findings suggest multifactorial explanations to family impact in children with EA, which are essential when optimizing the support to these families in clinical and psychosocial practice. Future research should explore experiences of family impact from all family members’ perspectives and multicenter studies are warranted to understand better the effectiveness of psychosocial-educational interventions to families of children with EA.

Health-Related Quality of Life, Financial and Psychosocial Impact on Parents Having Children with Nephrotic Syndrome

Background &amp; objective: Childhood nephrotic syndrome (NS) follows a chronic course in most children. However, little has been studied about the burden of NS on the caregivers despite evidence that caregiver burden or impairment in their well-being may alter the outcome of chronic childhood illnesses. We aimed to study the multi-dimensional impact on the quality of life (QOL) of families of children with the NS to determine the significant predictors of caregiver burden and psychological distress among caregivers of children with NS in terms of Parents HRQOL (health related quality of life), Pediatrics Health-related quality of life Family Impact Module (PedsQLTM FIM) and Family Functioning Summary Score (FaF-SS).&#x0D; Methods: This cross-sectional analytical study was conducted over a period 6 months from October 2019 to March 2020. Parents of children with diagnosed nephrotic syndrome (frequent relapsers, steroid dependent and steroid resistant), on treatment for at least one year, attending at the Outpatient and In-patient Units of Pediatric Neprology, Dhaka Medical College &amp; Hospital (DMCH) and Dhaka Shishu Hospital were taken as cases. A total of 40 cases and 64 controls were consecutively included in the study. The control group consisted of parents of healthy age-sex matched children attending at the immunization clinic to have their children immunized. Data were collected by face-to-face interview of the parents using questionnaire of Pediatric Quality of Life Inventory 4 (PedsQLTM), Family Impact Module (FIM). PedsQL FIM is a multi-item scale comprising of 36 questions grouped under eight domains related to physical functioning, emotional functioning, social functioning, cognitive functioning, communication, worry, daily activities and family relationships.&#x0D; Results: Parents HRQOL-SS was compromised with certain aspect of their demographic characteristics. Parents with debt and widows had compromised HRQOL than the parents without debt and both of the spouses are living together (p = 0.174 and p=0.027 respectively). Parents whose children responding well to treatment had a better HRQOL than those whose children were not responding to treatment (p = 0.102). As PedsQLFIM-SS was compared between the demographic characteristics of the parents, again widows and parents with debt had significantly worse PedsQLFIM-SS (p = 0.007 and p = 0.038 respectively). Parents with debt also had impact on family functioning as evidenced by commendably reduced FaF-SS (family functioning summary score) in parents with debt than those in parents without debt (p = 0.029). There was no difference between case and control groups in terms of Parents HRQOL-SS and FaF-SS (956.8 ± 195.9 vs. 970.9 ± 287.7, p = 0.786 and 404.5 ± 87.8 vs. 391.4 ± 119.1, p = 0.549 respectively) and each of the six individual domains, except emotional functioning which was significantly poor in the case group than that in the control group (p = 0.005) Physical functioning was also considerably worse in the case group than that in the control group, although the difference was not statistically significant (p = 0.130).&#x0D; Conclusion: The study concluded that parents of the children with NS suffer from immense financial, physical and psychological burden. Burden is significantly greater for widows or when the families are in debt due to continued effort to cope with the stresses resulting from caregiving of their compromised children. Early diagnosis and treatment of parents’ burden is of utmost need to help improve parents’ health-related quality of life.&#x0D; Ibrahim Card Med J 2021; 11 (1): 28-34

Cardiac Diseases among Children and its Impact on Family: a Cross Sectional Survey

Objective: To determine the impact of cardiac disease on family among children. Subjects and methods: A cross-sectional study was conducted with a sample of 405, raised through non-probability convenient sampling technique. The recruitment of subjects was undertaken within September 2019 to February 2020. Parents of children both male and female having age within 5-12 years with diagnosed cardiac diseases were included in our study. Tool for data collection used in our study was PedsQL™ Family impact Module version 2.0 (PARENT REPORT). Data analyzed through SPSS 21. Results: Most of the children diagnosed with congenital heart disease were 72.6% and others with acquired heart diseases were 27.4%). Physical functioning and emotional functioning domain showed moderate impact on family both in congenital and acquired diseases. All other domains demonstrated mild impact on family. Conclusion: According to results of current study it was concluded that children who are suffering from heart diseases also have impact of family with mild to moderate intensity. Keywords: Congenital Heart Defect, Cardiac Diseases, Quality of life

Translation, Cultural Adaptation, Reliability, and Validity Evidence of theFeeding/Swallowing Impact Survey (FS-IS) to Brazilian Portuguese.

The purpose of this study was to translate and adapt the Feeding/Swallowing Impact Survey (FS-IS) into Brazilian Portuguese and provide a validated instrument for caregivers of children with feeding/swallowing disorders.This cross-cultural study involved initial translation, synthesis of translations, back-translation, Committee of Experts, and pre-test.The sample consisted of 95 primary caregivers of children with feeding/swallowing disorders classified by Pediatric Dysphagia Evaluation Protocol (PDEP) in mild (n = 9), moderate-severe (n = 40), or profound (n = 46) dysphagia.Reliability and evidence of validity based on test content, response processes, internal structure and the relations to other variables were investigated.Internal consistency, test-retest, exploratory and confirmatory factor analysis were performed, in addition to the correlation with PedsQL™ Family Impact Module (PedsQLTMFIM). The pre-test participants did not report any difficulties in understanding the translated version.The Brazilian Portuguese version of FS-IS (Pt-Br-FS-IS) presented Cronbach's Alpha of 0.83, Exploratory Factor Analysis verified that the instrument would not be unifactorial (KMO = 0.74 and Bartlett's sphericity test p < 0.001) and Confirmatory Factor Analysis confirmed the original model in three subscales with χ2/df = 1.23, CFI = 0.92, TLI = 0.90, RMSEA (90% CI) 0.049 (0.011-0.073) adjustment indexes and the ICC was excellent in all subscales and total score.The correlation withPedsQL™FIMwas significant in the total score and subscales. This study successfully translated and cross-culturally adapted the FS-IS instrument to the Brazilian Portuguese language and the investigation of its reliability and validity evidence suggests that the Pt-Br-FS-IS is a reliable and valid tool to measure the impact of feeding/swallowing disorders on the quality of life of caregivers of affected children.

The impact of severe rare chronic neurological disease in childhood on the quality of life of families\u2014a study on MLD and PCH2

BackgroundRare and severe neurological disorders in childhood not only heavily affect the life perspective of the patients, but also their caregivers and families. The aim of this study was to investigate the impact of such diseases on the family, especially on the quality of life and life perspectives of parents, but also on the families’ everyday life, based on the model of two diseases which have been well described in recent years with respect to symptoms and course: metachromatic leukodystrophy (MLD) and pontocerebellar hypoplasia type 2 (PCH2). PCH2 is a primary severe developmental disorder, while children with MLD initially develop normally and then progressively deteriorate.MethodsUsing a semi-standardized questionnaire, 43 families with children suffering from MLD (n = 30) or PCH2 (n = 19) reported data on the severity of the illness/symptoms, on family support and the care situation, as well as on the circumstances of non-affected siblings and the parents’ work situation. In addition, the quality of life of parents and general family functioning was assessed using the PedsQL™ Family Impact Module [23]. Results for the latter were compared to published data from families with children without any chronic condition using student’s t-tests for independent samples. Potential factors influencing the PedsQL™ scores were analyzed using Spearman’s rank correlation.ResultsParents of children with MLD and PCH2 reported significantly lower health-related quality of life (HRQOL) compared to parents of healthy children (P < 0.001). Mothers showed significantly poorer HRQOL (P < 0.05) and were significantly more dissatisfied with their professional development (P < 0.05) than fathers, and this was seen in relation to their child's disease. Neither the form of disease (‘primary’ symptomatic PCH2 or ‘secondary’ symptomatic MLD), nor the severity of the child’s illness (in terms of gross motor and speech function) had a specific impact on HRQOL in families. However, the time from diagnosis and advanced symptoms in the terminal disease stage were experienced as especially distressing.ConclusionsThis study illustrates that MLD and PCH2 affect mothers in particular, but also the entire family. This underlines the need for personalized care and counselling of parents and families, especially following diagnosis and during the end stage in a child with a severe, rare chronic neurological disorder.

Clinical presentation of Rett syndrome in relation to quality of life and family functioning

ObjectiveRett syndrome (RTT) is a chronic condition that manifest in young children, with concomitant comorbidities such as respiratory problems, scoliosis, epilepsy, and malnutrition, which may affect children’s quality of life (QoL) and family functioning. The objective of this cross-sectional descriptive correlation study was to understand the clinical presentation of RTT in relation to QoL and family functioning.MethodsWe included 23 parents of children with RTT. In this study, we used the PedsQL™ Family Impact Module, the Pediatric Quality of Life Inventory 4.0 generic core scales (PedsQL™ 4.0), and an author-designed questionnaire to assess QoL and family functioning.ResultsA significant relationship was observed between PedsQL™ 4.0 score and child’s age in the physical functioning dimension. Children aged 8 to 12 years demonstrated significantly higher scores than those in the other age groups. Malnutrition in the child significantly affected functioning of the family in the family relationships dimension. Children receiving 5 hours of rehabilitation treatment a week had significantly higher QoL in the school functioning dimension.ConclusionsQOL in children with RTT, as perceived by their parents, is reduced. RTT has a significant negative correlation with family functioning.

Health-related quality of life of caregivers of children with congenital diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) is a congenital defect associated with significant mortality and morbidity. We sought to assess the health-related quality of life (HRQoL) for caregivers of infants/children with CDH and determine risk factors for poorer HRQoL. Families were recruited from a CDH-specific outpatient clinic and HRQoL was assessed by a validated HRQoL instrument (PedsQLTM Family Impact Module) at several time points. Mixed models were used to identify demographic and clinical factors associated with worse HRQoL for caregivers. A total of 29 subjects were recruited at a mean age of 2.4 ± 2.3 years. In terms of defect size, 6.9% had a Type A, 37.9% a Type B, 31.0% a Type C, and 24.1% a Type D. The mean HRQoL score at the first encounter was 67.6 ± 18.3; scores are reported from 0 to 100 with higher scores representing the higher reported quality of life. Lower median household incomes (p = .021) and use of extracorporeal membrane oxygenation (p = .013) were associated with poorer HRQoL scores. The presence of respiratory symptoms decreased HRQoL for caregivers, including daytime symptoms (p < .001) and nighttime symptoms (p < .001). While emergency department visits were not associated with a decrease in HRQoL, hospital admissions (p = .002), and reoperations for CDH (p < .001) were. Our study found a reduced quality of life associated with socioeconomic factors and severity of ongoing disease. Further study is needed to confirm these findings and identify strategies for aiding families cope with the chronicity of this congenital disease.

Parent\u2013child-agreement on health-related quality of life and its determinants in patients born with Esophageal Atresia: a Swedish\u2013German cross-sectional study

BackgroundThe aim was to compare parent and child-reported health-related quality of life (HRQOL) of children born with esophageal atresia (EA) and determine factors that affect the level of parent–child agreement.MethodsWe included 63 parent–child dyads of children born with EA aged 8–18 from Germany and Sweden. The generic PedsQL 4.0™ questionnaire and the condition-specific EA QOL questionnaire were used to assess children’s HRQOL from parents' and children’s perspectives. The PedsQL™ Family Impact Module was used to assess parental HRQOL and Family Functioning.ResultsOn an individual level, intra-class correlation coefficients indicated strong levels of parent–child agreement (.61–.97). At the group level, the analyses showed no significant differences between the responses of parents and children. When a disagreement occurred, parents were more likely to rate generic HRQOL lower than the children (19–35%) and condition-specific HRQOL higher than the children (17–33%). Findings of the binary logistic regression analyzes showed that the child’s age, gender, and country (Germany vs. Sweden) were significant predictors of parent–child agreement in condition-specific HRQOL. We did not identify any significant variables that explain agreement for the generic HRQOL.ConclusionThe parent–child agreement is mostly good, suggesting that parent-reports are a reliable source of information. However, discrepancies may occur and can be explained by the child's age, gender, and country (Sweden vs. Germany). Both perspectives are essential sources for treating EA patients and should not be considered right or wrong. Instead, this information broadens the perspective on pediatric EA patients.

Kleefstra syndrome: Impact on parents

BackgroundKleefstra syndrome (KS) is associated with developmental delay, autism, intellectual disability, psychosis, and regression. Research has not been conducted to assess the impact of KS on parents. Objective/hypothesisA mixed-method study was conducted to assess the impact on parental well-being by evaluating parents’ well-being, identifying factors of parental experience predicting well-being, and exploring the parental experience. MethodsParents completed an online survey containing the PedsQL™ Family Impact Module (FIM) and a questionnaire created by the researchers. One-Way T-Test compared parents of children with KS to parents of children with Prader-Willi syndrome (PWS). Multiple linear regression used parents’ total scale scores on PedsQL™ FIM to identify factors influencing parental well-being. Constant comparative analysis used open-ended responses to explore the parental experience of having a child with KS. ResultsParents of children with KS had statistically lower scores in daily activity and social functioning, but statistically higher scores in communication and emotional functioning compared to parents of children with PWS. However, the power was below 0.80, meaning additional research needs to be completed to confirm these findings. The linear multiple regression was not significant. Most importantly, the themes of establishing the diagnosis, importance of knowledge, sense of community, KS and relationships with others, how life changed, and what the future will hold, characterized the parental experience. ConclusionsKnowledge and support were important to parents who had a child recently diagnosed with KS. Therefore, parents should be provided resources about KS and support groups at diagnosis.

Family impact and economic burden among caregivers of children with chronic kidney disease in Assiut, Egypt

BackgroundChronic disease greatly increases children’s dependency on parents/caregivers (usually mothers) as they face new problems associated with caring for a child with chronic disease. Thus, chronic kidney disease (CKD) presents a burden for children and their families that last throughout life in different aspects. This study aimed to assess family impact and economic burden of chronic kidney disease (CKD) in children on their families.MethodsA cross-sectional study was carried out on 250 caregivers of children with CKD attending tertiary care hospital/health insurance clinics in Assiut, Egypt using PedsQL™ family impact module (FIM) for assessing family impact and economic burden between January and May 2018.ResultsSeventy six percent of caregivers shared paying for treatment with health insurance while 14% paid the total expenses out of their pockets. Although the majority (87.2%) of caregivers suffered different degrees of financial hardship, more than 60% of them had no coping strategy. The regression module showed that responding caregiver, degree of financial hardship, treatment modality, and socioeconomic class were significant predictors of total FIM (β = 0.38, P < 0.001; β = 0.28, P < 0.001; β = 0.22, P < 0.001; β = 0.13, P = 0.006 respectively).ConclusionMost caregivers were involved in paying for treatment of their children either totally or sharing with health insurance and suffered different degrees of financial hardship. Mothers, caregivers with great financial hardship, and caregivers of children on dialysis had the lowest scores of PedsQL™ FIM. There is a high need for expansion of health insurance umbrella to reduce financial hardship together with continued multidimensional support to families.