Child's Disease Research Articles

Acute exacerbations in children’s interstitial lung disease

IntroductionAcute exacerbations (AEs) increase morbidity and mortality of patients with chronic pulmonary diseases. Little is known about the characteristics and impact of AEs on children's interstitial lung disease (chILD).MethodsThe Kids...

Parenting a child with a kidney transplant-A study of everyday life experiences.

Kidney transplantation in children shows excellent long-term outcomes. However, parents feel responsible for ensuring that their child adheres to complex medical interventions. The dual role - as both parent and medical caregiver - gives rise to fatigue, stress, and emotional pain. Parental and family functioning are critically important to a child's disease course, development and well-being. To explore the experiences and perspectives of mothers and fathers of children with a kidney transplant. An explorative study using a qualitative method. Twelve parents (seven mothers and five fathers) of seven children with a kidney transplant. A qualitative exploratory study taking a phenomenological-hermeneutic approach. Semi-structured individual interviews were conducted. The data were analysed using Ricoeur's theory of narrative and interpretation on three levels: naïve reading, structural analysis, and critical interpretation and discussion. Four themes were generated: Kidney transplantation as a turning point, the importance of a close collaboration with health care professionals, being the child's voice, and managing the dual role as a parent, and medical caregiver in everyday life. Child kidney transplantation led to a transformation in the child, on the physical, mental, and social levels; however, the child was still in need of special attention and support. Problems with the kidney graft functioning resulted in frustration and disappointment in parents. Teamwork between a child's parents became evident, in coping with the dual role as a parent and medical caregiver. Parents aimed to maintain a clear structure related to medication and disease-related treatment. A close and trustful relationship and collaboration with health care professionals were significant and included listening to the voice of the child.

Pediatric pulmonology 2020 year in review: Rare and diffuse lung disease.

Pediatric Pulmonology publishes original research, review articles, and case reports on topics related to a wide range of children's respiratory disorders. Here we review some of the most notable manuscripts published in 2020 in this journal on (1) children's interstitial lung disease (chILD), (2) congenital airway and lung anomalies, and (3) primary ciliary dyskinesia and other non-cystic fibrosis bronchiectasis. The articles reviewed are discussed in context with published works from other journals.

Biopsychosocial Factors Associated with Parenting Stress in Pediatric Sickle Cell Disease.

Caregivers of children with sickle cell disease (SCD) experience significant physical and emotional hardship with their child's disease management. Little is known about the potential contributors to parenting stress in pediatric SCD. The present study aimed to identify child and caregiver biopsychosocial factors associated with disease-related parenting stress in pediatric SCD. Participants included 74 caregiver-youth dyads. Parenting stress was associated with increased child pain frequency, more missed school days, and increased healthcare utilization, and inversely correlated with caregiver mental health and social-emotional functioning. Parenting stress also partially explained the relationship between child pain frequency and healthcare utilization after controlling for parent depression and anxiety. Parenting stress may play a unique and critical role in pediatric SCD and underscore the impact parenting stress may have on youth in medical and academic settings. Further research is warranted to determine risk factors and appropriate interventions for parenting stress to improve comprehensive patient care.

Symptoms of depression in children part of the “snowflake” generation and their input for the functioning of the whole family. Narrative research of modern families

In the article I analyze the problem of mental health about children of the generation of "snowflakes". The subject of the article is the problem of child depression affecting the whole family system. The main symptoms of this disease are presented. They are discussed in detail with their impact on family relationships. The main functions of the family were recalled, as they gave the structure for the analysis of narrative tests. A lot of attention was paid to the description of the impact of depression on the life of the whole family, including marriage, contact with children, social contacts, changes in the family's activity and material situation, as well as emotional reactions of family members. The analysis of narrative tests shows the family's reactions to the child's disease.

Sense of Coherence in Parents of Children With Cancer and Its Relationship With Self-Construal in Southeastern Iran.

This study aimed to determine sense of coherence and its relationship with self-construal in parents of children with cancer in southeastern Iran. In this descriptive correlational study, 127 parents of children with cancer were studied using sense of coherence scale (SOC) and self-construal scale (SCS) in Iran. The results of the study showed that total mean score of SOC was 51.4 ± 14.2 and the interdependent self-construal (INT) in parents was higher than independent self-construal (IND). Also, the relationship between SOC and SCS showed that IND had a positive and statistically significant relationship with SOC manageability subscale. The weak SOC in the studied parents can cause more stress and suffering in dealing with their child's disease. It is essential that health care providers provide a comprehensive program to enhance parents' SOC and it should be noted that people who have a more INT felt less able to manage challenging situations.

Отношение к болезни в семьях детей с деформациями позвоночника

Introduction Analysis of psycho-emotional aspects in children suffering from spinal deformities demonstrates a high level of dysfunctionality in mechanisms of personal and intra-family adjustment. There is a paucity of publications on the problem. Objectives included multidimensional psychometric assessment of parents' attitude toward children with spinal deformities and the correlation with psychological characteristics of patients. Material and methods Results of a survey performed for 45 patients who underwent operative treatment for spinal deformities of different etiology and their parents were reviewed. The patients' age ranged from 7 months to 17 years inclusive. Validated questionnaires used as survey tools included the "DOBR" questionnaire, FACES-3, SDQ and DERS. Patients were assigned to two age-related groups, Juniors aged from 7 months to 6 years inclusive and Seniors aged from 7 to 17 years inclusive. An intergroup and correlation analyses were performed in the study groups. Results Multidimensional analysis showed that parents of children with spinal deformities tend to downgrade the severity of the child's condition neglecting postoperative prescription standards that was more common for Seniors (p = 0.001). Parents look toward the maximum intra-family cohesion but do not have the necessary knowledge to achieve it. Emotional problems and social adjustment difficulties are more common for Seniors (p = 0.031). Conclusion Lack of adequate parental knowledge about the child's disease is the key factor behind the imbalance in intra-family functioning. Therapeutic intervention and parent management training can facilitate to psycho-emotional well-being in the family and postoperative improvements for maladapting children with spinal deformities.

A cross-sectional investigation of SARS-CoV-2 seroprevalence and associated risk factors in children and adolescents in the United States.

Pediatric SARS-CoV-2 data remain limited and seropositivity rates in children were reported as <1% early in the pandemic. Seroepidemiologic evaluation of SARS-CoV-2 in children in a major metropolitan region of the US was performed. Children and adolescents ≤19 years were enrolled in a cross-sectional, observational study of SARS-CoV-2 seroprevalence from July-October 2020 in Northern Virginia, US. Demographic, health, and COVID-19 exposure information was collected, and blood analyzed for SARS-CoV-2 spike protein total antibody. Risk factors associated with SARS-CoV-2 seropositivity were analyzed. Orthogonal antibody testing was performed, and samples were evaluated for responses to different antigens. In 1038 children, the anti-SARS-CoV-2 total antibody positivity rate was 8.5%. After multivariate logistic regression, significant risk factors included Hispanic ethnicity, public or absent insurance, a history of COVID-19 symptoms, exposure to person with COVID-19, a household member positive for SARS-CoV-2 and multi-family or apartment dwelling without a private entrance. 66% of seropositive children had no symptoms of COVID-19. Secondary analysis included orthogonal antibody testing with assays for 1) a receptor binding domain specific antigen and 2) a nucleocapsid specific antigen had concordance rates of 80.5% and 79.3% respectively. A much higher burden of SARS-CoV-2 infection, as determined by seropositivity, was found in children than previously reported; this was also higher compared to adults in the same region at a similar time. Contrary to prior reports, we determined children shoulder a significant burden of COVID-19 infection. The role of children's disease transmission must be considered in COVID-19 mitigation strategies including vaccination.

Successful Quality Improvement Projects to Maximize Prescription Rates and Acceptance of Hydroxyurea Among Patients with Sickle Cell Anemia

Background: “Education and Mentoring to Bring Access to Care for SCD (EMBRACE SCD)”–U1EMC31108-- is a multicenter study sponsored by HRSA in the US southeastern region, which focuses on extending knowledge about sickle cell disease (SCD) to hematology and primary care providers and to improve the care of children and adults with SCD. In Florida we aimed to improve access by increasing prescription (RX) rates of hydroxyurea (HU), by at least 10% from baseline in patients with sickle cell anemia.Methods: Three SCD centers, assisted by three community-based organizations and with the support of two pediatricians with expertise in quality improvement (QI), were engaged in this QI project. The SCD centers are the University of Miami (UM), Salah Foundation at Broward Health and Johns Hopkins All Children's Hospital (JH). Data were abstracted locally and entered into REDCap by a central data manager. Run charts were created to assess data improvement. UM also assessed barriers using a parent/caregiver questionnaire administered at least 6 months after offering HU with the purpose of improving patient education and desire to take HU.Results: Beginning in June 2019 until June 2021, center clinicians concentrated in identifying all patients who were eligible for HU (namely, children 9 months and older with hemoglobin SS and hemoglobin SB 0thalassemia who were not on chronic transfusions). As a group, 50.2% (N=263) of patients were on hydroxyurea at entry (range 35.4-62.4 % among the sites) from a total of 524 eligible patients. The main organizing activities which allowed for higher percent were having a center patient database (done March 2019), educating all providers in the centers about the importance of HU as disease-modifying therapy, having a unified protocol for the education of parents and/or patients about HU benefits, and using visual aids (pictures) of erythrocytes pre and post HU treatment. The QI consultants met virtually with the Florida EMBRACE team monthly beginning June 2020 to increase engagement and interest in participating in this QI activity. We implemented a data collection sheet to track medical records every month to determine whether we were capturing all eligible patients. As depicted in the run chart, we surpassed the QI goal by ending with 64.8% (N=343) prescription rate (range 48.0-85.0 %) from a total of 529 eligible patients.From the 76 barrier assessment questionnaires given at UM, we identified 12 (15.8%) refusals. Seven of 12 refused because of fear of taking “chemotherapy”, one because of fear of side effects, and four because their children's disease was considered mild. With further education, we decreased the refusals from 12 to 9.Conclusion: A unified approach to a QI project was successful among several centers in Florida, increasing the prescription rate of hydroxyurea by 14.6% among patients with sickle cell anemia.Acknowledgment: We acknowledge HRSA and region principal investigators for EMBRACE SCD Drs. Ify Osunkwo, Julie Kanter and John J. Strouse for their support in this work. [Display omitted] DisclosuresAlvarez: Forma Therapeutics: Membership on an entity's Board of Directors or advisory committees; GBT: Membership on an entity's Board of Directors or advisory committees. Clay: Novartis: Honoraria; GBT: Membership on an entity's Board of Directors or advisory committees.

Epidemiology of Abusive Head Trauma Among Children in Saudi Arabia.

Background and objectives:To examine abusive head trauma (AHT) trends using data obtained from hospital-based child protection centers (CPCs) and the distribution of age in months among young children in Saudi Arabia.Methods: A retrospective study was conducted that includes data obtained from 58 hospital-based CPCs in all 13 regions of Saudi Arabia registered in the National Family Safety Registry from 2010 to 2020. AHT cases (n=106) were identified for inclusion in the registry by a daily review of the emergency department logbooks.Results: Over the 11-year period, there was a sharp increase in the number of cases, specifically after 2014, from seven cases per year in 2010 to 16 cases in 2020. AHT affects predominantly children aged 0-12 months (72.6%), followed by 13-24 months (17.9%), 25-36 months (3.8%), 37-48 months (3.8%), and 49-60 months (1.9%). Victims were characterized by a predominance of crying infants (23.6%), past history of abuse (13.2%), a child’s chronic disease and disability (7.6%), and prematurity (2.8%).Conclusion: Different training and educational programs need to be performed to raise awareness of AHT. Enacting the pediatrician’s mandatory reporting law will improve the rate of reporting cases.

The cost and benefit of fear induction parenting on children's health during the COVID-19 outbreak.

The outbreak of the 2019 coronavirus disease (COVID-19) was an unprecedented global public health emergency with a significant psychological toll. This study aimed to understand how specific COVID-19 related stressors contributed to Chinese parents' fear induction practices, and how these practices, in turn, contributed to their children's disease prevention practices during the outbreak and depressive symptoms after the outbreak. Parents (N = 240, Mage = 38.50 years, 75% mothers) with elementary-school-age children (Mage = 9.48 years, 46% girls) in Wenzhou, 1 of the most impacted cities in China, reported on the presence of confirmed or suspected cases in their communities, their frequencies of consuming COVID-19-related information, fear induction practices, and their children's trait anxiety and disease prevention practices during the outbreak (January 28-30, 2020). Child-reported depressive symptoms were collected between March 7-11, 2020; during which there were very few remaining cases and no new confirmed cases or deaths. Parents' higher frequency of virus-related information consumption but not the presence of community infection was associated with their engagement in more fear induction practices, which was in turn associated with children's greater engagement in prevention practices during the outbreak, but more postquarantine depressive symptoms. Child trait anxiety exacerbated the association between parent fear induction and child depressive symptoms. Using fear induction parenting may promote children's willingness to cooperate and participate in disease prevention practices during the crisis but at the cost of children's long-term mental health. (PsycInfo Database Record (c) 2021 APA, all rights reserved).

Resilience and Associated Factors in Mothers of Children with Congenital Heart Disease: A Cross-Sectional Study.

ABSTRACTBackground: Congenital heart disease (CHD) in children affects the parents’ mental and physical health and their caring and supportive functions. Resilience is an important factor in health. This study aimed to determine resilience and its associated factors in mothers of children with congenital heart disease. Methods: This descriptive cross-sectional study enrolled 136 mothers of children with CHD. Samples were selected in two hospitals of Shahid Modarres and Children’s Medical Center in Tehran, Iran, via convenience sampling from May to early October 2019. Data were collected using demographics questionnaire, Multidimensional Scale of Perceived Social Support (MSPSS), Life Orientation Test (LOT), and Wagnild and Young Resilience Scale (RS). Data were analyzed in statistical software SPSS-16 using independent t-test, ANOVA, Pearson and Spearman correlation, and multiple linear regression. The significance level was set at P<0.05.Results: Mothers’ total mean score of resilience was 94.08±12.81, while 14.7%, 66.2%, and 19.1% had low, moderate, and high resilience, respectively. Regression analysis showed that two variables of social support (B=2.20, P<0.001) and optimism (B=0.76, P=0.003) were associated with resilience in mothers. The duration of the child’s disease was positively correlated with the mothers’ resilience but did not predict it (B=-0.72, P=0.22).Conclusion: The level of resilience in most mothers was moderate. Social support in the dimension of significant others and optimism were associated with mothers’ resilience. Therefore, holistic care and providing educational training programs that enhance these variables could be effective in promoting resilience in mothers of children with CHD.

Evaluation of the parents\u2019 anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support

BackgroundThe diagnosis of the rare genetic diseases has great importance in treating multisystemic conditions, preventing potential complications, and estimating disease risk for family members. The duration of obtaining genetic test results is varies. The demand to learn the diagnosis of a possible untreatable illness involves a struggle between uncertainty and a lifetime chronic disease. The current uncertainty of their child's condition and the long wait for a diagnosis may increase the parents' anxiety level and cause difficulties in the continuation of diagnostic procedures in some families. This study aimed to investigate the prediagnosis and postdiagnosis anxiety levels of parents who have a child with a rare genetic disease.MethodThe parents in this study, mothers or fathers, admitted their children to the Bezmialem Vakıf University Medical Genetics Clinic due to a suspected rare genetic disease (n = 40). Researchers created “The Sociodemographic Questionnaire” and used it to analyze the parents' sociodemographic status. In addition, they used the State-Trait Anxiety Inventory (STAI) to determine the anxiety levels of the parents.ResultsThe state anxiety levels of parents decreased significantly after learning the diagnosis. However, there was no statistically significant decrease observed in trait anxiety levels.ConclusionData from this study revealed that informing parents about their child's disease and properly explaining to them the expected difficulties might help to reduce their anxiety levels. Psychological support for parents is necessary to reduce their long-term stress, thus increasing the patient's compliance with treatment.

Psychological wellbeing in parents of children with phenylketonuria and association with treatment adherence.

BACKGROUND Phenylketonuria (PKU) is a rare metabolic disorder that leads to severe neurological abnormalities unless early treated with a strict phenylalanine (Phe)-restricted diet. The parents' involvement in PKU management is crucial and could lead to psychological distress; however, few studies have explored the parents' psychological wellbeing. The study aimed to: 1) evaluate the presence of psychological distress and impaired quality of life among parents of children with PKU, assessing the impact of the diagnosis and the impact of the treatment management; 2) explore the associations between parents' psychological outcomes and their children's blood-Phe levels. METHODS One hundred thirty-eight parents of patients with PKU (who need a Phe-restricted diet) and with a mild form (mild hyperphenylalaninemia-MHP, with no diet indication) filled-out self-report psychological questionnaires; Phe-levels of children with PKU were retrieved. RESULTS Parents of children with PKU did not report higher levels of psychological distress neither compared with the normative scores nor with parents of children with MHP. Optimal Phe-levels were associated with a higher number of parents' depressive complaints, with a lower tendency to express anger feelings, with a lower social functioning, and a higher mental health. CONCLUSIONS Parents of children with PKU showed a good psychological adaptation to their children's disease and treatment. Findings highlighted associations between parents' psychological wellbeing and their children's adherence to diet. Interestingly, an optimal adherence to the diet of their children was associated with parental low social functioning, a higher tendency to control the anger expression, and greater somatic depressive symptoms.

The experience of family carers of children with incurable cancer: a qualitative study from the occupied Palestinian territory

BackgroundTreatments for childhood cancers have raised the survival rate, however different forms of malignancy continue to cause untimely deaths, and cancer remains a leading cause of death among children. Global research on paediatric cancer is limited for several reasons. Most research has focused on specific methodologies, including questionnaires with heterogeneous samples. In addition, many studies have covered a broad range of cancer diagnoses, and a wide range of children's ages and periods between diagnosis and treatment. These methods are unable to capture the essence of experiences and cultural differences. This study aimed to explore the experience of family carers of children with incurable cancer in occupied Palestinian territory. MethodsThe study was conducted in the Paediatric Cancer Department of Beit Jala Hospital, which is the first public cancer department for children in the West Bank. The family carers of children aged 1–18 years with any type of incurable cancer in this hospital were considered eligible for participation, and the individual most involved in the care of the child was selected. To recruit participants, head nurses of medical and surgical paediatric floors provided assistance in approaching the carers of eligible children. The main objectives of the study were then discussed with the family carers. Semi-structured interviews were conducted with participants, and an interpretative phenomenological analysis approach was used to analyse the collected information. Ethical approval was obtained from the Beit Jala Hospital ethical review board and written informed consent was obtained from all participants. Findings14 interviews were conducted. Participants were nine mothers, four grandmothers, and one father. Family carers discussed their caring experiences, including their experiences in administering special treatments, their suffering due to treating irritable children, and the information given to them about their children's illness. Family carers reported that they changed the focus of their care from an initial emphasis on normalising their children's lives to relieving their physical and psychological discomfort. This change of focus accompanied changes in carers’ understanding of their child's disease over time. As carers became more realistic regarding the future of their children, they attempted to make their lives as comfortable as possible. Finally, carers discussed the support system around them; they found several resources to support them in the care of their children, including the experiences of other parents of children with similar diseases, the hospital environment, and their religious beliefs. Nevertheless, they stated that they needed more support during this difficult time of their lives. InterpretationThere is a need to support parents of children with incurable cancer in the occupied Palestinian territory. Suggestions to improve the quality of care provided for these parents include the education and recruitment of health care professionals, including social workers and psychologists, to provide emotional and spiritual support. FundingNone.

Household environmental factors and children's respiratory health: comparison of two cross-sectional studies over 25 years in Wuhan, China.

BackgroundOver the recent decades, residential lifestyle and household environment have changed substantially with rapid development of industrialization and urbanization in China. Whether the prevalence of respiratory diseases changed is still lack of evidence. The objective of this study is to assess potential changes in children’s respiratory disease prevalence and associated household environmental factors in Wuhan over a 25-year time interval.MethodsTwo cross-sectional studies in the Period 1 (1993 to 1996) and Period 2 (2017 to 2018) were compared in this research. Elementary school children in period 1 (N=2,517) and in period 2 (N=3,152) were recruited in Wuhan, China. The respiratory health condition, home environmental factors, and family socioeconomic status of each subject were acquired through questionnaire survey using the same protocols in both periods. We used the Chi-square test to analyze the difference of household environmental factors (focused on three indoor air quality determinants) and children’s respiratory health condition between two periods. Logistic regression models were used to assess the impacts of household environmental determinants on children’s respiratory diseases and symptoms between the two studies, by adjusting a set of covariates.ResultsThe three indoor air quality determinants have reduced substantially in prevalence from period 1 to period 2: environment tobacco smoke (ETS) from 86.6% to 45.9%, household coal use from 47.6% to 4.9%, and kitchen smoke from 58.9% to 7.3%. The prevalence of certain respiratory symptoms in children significantly decreased, such as cough with colds (51.1% to 41.6%) and phlegm with colds (22.3% to 17.7%). The prevalence of asthma was 2.5% and 2.4% and that of bronchitis was 27.1% and 29.8% in both periods. Coal use was a risk factor for asthma in period 1 (OR =2.34, 95% CI: 1.30–4.23), while it was not significantly associated with prevalence of asthma in period 2 (OR =0.60, 95% CI: 0.08–4.51).ConclusionsHousehold indoor air quality determinants and respiratory health condition of children in Wuhan has been improved over the last 25 years. At present, kitchen smoke is an important factor affecting the prevalence of wheeze whatever child has a cold or not and reducing exposure to ETS could be beneficial to protect children to be less likely to develop bronchitis.

Dampak Hospitalisasi Pada Anak Dengan Typhoid Fever: Studi Kasus

Disease and hospitalization can be the crisis that a child encounters. Typhoid fever is an acute infectious disease of the digestive tract caused by Salmonella Typhi. Objective: The aim of this study was to identify the impact of hospitalization on children with typhoid fever.Methods: This research usea qualitative research with a case study approach. This research is a case study of nursing care for children with typhoid fever in the Cempaka Room, RSUD dr. Mohammad Zyn of Sampang Regency. Respondents in this case study were 2 children with Typhoid Fever.Results: The results of the study obtained the results from the objective data that the two children felt afraid and strange in the hospital. The subjective data shows that the parents of both children said they were worried about their child's condition. Parents and children experienced anxiety when the child was hospitalized.Conclusion: The impact of hospitalization for children causes fear, anxiety, due to unfamiliar environmental conditions and the treatment process by health workers. Meanwhile, the impact of hospitalization on parents can cause anxiety about the condition and development of their child's disease.

HUBUNGAN RIWAYAT PENYAKIT DENGAN STATUS GIZI : STUDI CROSS SECTIONAL

Background: Children who often suffered from diseases will affect their nutritional status.Purpose: To determine the risk factors of disease history with nutritional status among stunted children under-five in Pidie Jaya Regency.Methods: A descriptive-analytic study with a cross-sectional design. Total sample were 34 children. Weaning initiation patterns and disease history were obtained through interviews with questionnaire. The nutritional status among children under five were measured by anthropometric. Data were analyzed using chi-square test.Results: Children's disease history in the last three months were correlated with the nutritional status on the HAZ index (P-value = 0.015 (0.05) with OR = 6.0. There was no correlation betweeen disease history with the nutritional status by WAZ and WHZ index (P-value 0.05).Conclusion: The history of the disease in the last 3 months has a significant relationship with HAZ of children under five.

Risk of Factor on History Disease with Nutritional Status on Toddlers Aged 24-59 Months in Pidie Jaya District

ABSTRACTThe nutritional problem has happened in Indonesia. One of them is toddler malnutrition. Children who are malnourished have a low immune system. Thus it is susceptible to infectious diseases. Factors that can prevent nutritional problems in toddlers include the age of weaning and the toddler's immune system. Breastfeeding until the two-years-old, weaning, and body resistance will also affect the toddler's nutritional status. The research aimed to identify the risk factors of disease history on toddler stunting's nutritional status in Pidie Jaya District. The research's implementation was descriptive-analytic with a cross-sectional research design with a sample size of 34 people—data on weaning patterns and disease history obtained through interviews with questionnaires. Anthropometry measurements obtained the nutritional status data of toddlers. Analysis used chi-square test. Based on the results, most of the 14.7% of toddlers had a history of fever, 52.95% of unwilling toddlers. Toddlers with well nutritional status with weight-for-age index 64.7%, skinny nutritional status with weight-for-height index 55.9%, short nutritional status with height-for-age 52.9%, and regular dietary status with BMI-for age index 73.5%. Conclusion there was an influence of children's history disease in the last three months on nutritional status in the index height-for-age P-value = &lt;0.015 (&lt;0.05) with OR 6.0, but there was no influence of sick history on nutritional status with index weight-for-age, weight-for-age and BMI-for-age (P-value &gt;0.05). It was important for the mother to implement a healthy lifestyle, environmental hygiene, and hygiene of the food history to become better.

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.