Content area
Purpose
This study aims to evaluate the health literacy level of the parents of children diagnosed with Down syndrome (DS) within one institution in Turkey.
Design/methodology/approach
A cross-sectional survey measuring demographics, information of the child and the parent and health literacy was administered to participants. The health literacy levels in the study were measured with the European Health Literacy Scale (EHLS), which consists of 47 questions.
Findings
Of the 65 participants who completed the questionnaire, 56.9% were mothers, 68.1% were diagnosed in the neonatal outpatient clinic examination after birth, and 58.5% stayed in the neonatal intensive care unit after birth. The mean score of the IHLS scale was 25.06 ± 6.59. Of the parents, 63.1% were found to be inadequate, 18.5% problematic-limited, and 18.5% adequate health literate. Any parent with excellent health literacy level was identified. High education level (p < 0.001), high income level (p < 0.001), living in the city center (p < 0.05), planned pregnancy (p < 0.05) and being a health worker (p < 0.001) were found to be statistically significant with a high EHSL score.
Research limitations/implications
The presence of Down syndrome (DS) in a child also necessitates ongoing monitoring for a range of conditions, including eye diseases and heart disease. Some surgical procedures, such as heart or gastrointestinal surgeries, may also be required. Additionally, the child may require the administration of various medications. Finally, due to the potential lifelong need for assistance, the child may require the support of an adult throughout their lifetime. This is because of the child's inability to live independently due to their mental state. Therefore, parent education is the most important issue in the follow-up of the disease.
Practical implications
To the best of the authors’ knowledge, this is the first study to determine that parents of children diagnosed with DS have very limited knowledge of the disease and health literacy. Explanation of current diseases, treatments and training of parents should also be included in genetic counseling.
Social implications
DS is a chromosomal disease that requires multidisciplinary care. Parents have to know the course of the disease and its complications.
Originality/value
The findings of this study indicate that parents of children with Down syndrome exhibit a profound lack of knowledge regarding the nature of their child's condition and the available healthcare options. It is therefore imperative that genetic counseling incorporates an explanation of the diagnosed diseases, treatments, and educational resources for parents.
What is known about this topic: Down syndrome is a chromosomal disease that requires multidisciplinary care. Parents have to know the course of the disease and its complications.
What this paper adds to the topic: To the best of the authors’ knowledge, this is the first study to determine that parents of children with Down syndrome have very limited knowledge of the disease and health literacy. Explanation of current diseases, treatments and training of parents should also be included in genetic counseling.
Introduction
Down syndrome (DS) is the most common numerical chromosomal abnormality characterized by having three copies of all or part of the chromosome 21 (trisomy) in all or some cells of the body. Most patients with DS have an extra copy of chromosome 21 (regular type). Mosaic and translocation types of DS are less common. Its incidence is approximately 1 in 700 live births (Ergaz-Shaltiel et al., 2017). The incidence of DS increases with maternal age and the incidence varies in different populations (from 1 in 319 to 1 in 1,000 live births). Despite the increase in public awareness and diagnosis in the womb by prenatal screening, the prevalence of DS has persisted in recent years and has increased according to some studies (de Graaf et al., 2011).
Mild-to-moderate intellectual disability, growth retardation and typical facial appearance are the most characteristic findings of DS. Anomalies involving multiple systems such as congenital heart disease (CHD) associated with many complications including respiratory failure; gastrointestinal system anomalies; endocrinological disorders such as thyroid gland dysfunction; nutritional deficiencies; hematological disorders; and visual and hearing defects are seen in DS (Bergström et al., 2016; Mazurek and Wyka, 2015). CHD, especially septal defects, occurs in more than 60% of babies with DS, and persistent neonatal pulmonary hypertension develops in 5–34% of babies, regardless of the diagnosis of CHD (Lagan, et al., 2020). In addition to these, 65% of DS patients need intensive care in the neonatal period (Seither K et al., 2021).
Health literacy has been defined as individuals’ ability to acquire, process, understand and communicate health information needed to make informed health decisions (Berkman et al., 2010; Nutbeam and Lloyd, 2021). The latest European Union Health Literacy Survey (EU-HLS) found that almost half of adults in eight European countries tested had inadequate or problematic health literacy skills, which negatively impacts health literacy (Kickbusch et al., 2013). According to UNESCO data, 781 million adults worldwide lack basic literacy skills in 2012 (UNESCO, 2014). Low health literacy competencies have been shown to result in less healthy choices, more risky behaviors, poorer health, less self-management and more hospitalizations (Kickbusch et al., 2013).
In cases with chronic diseases such as DS, parental health literacy is important in terms of medical treatment and follow-up of their children (Lander et al., 2022). As the level of health literacy increases, the knowledge, motivation and competence levels that enable people to access, understand, evaluate and use health information will also increase. Determining the level of knowledge and understanding about health problems of parents of DS who need health services, will increase the effectiveness of these health services. The aim of this study is to evaluate the health literacy level of the parents of children with DS.
Methods
The universe of our study, which was designed as a descriptive-cross-sectional study, consisted of the parents of the children diagnosed with DS by standard chromosome analysis between 2019 and 2022 in our pediatric genetics department. The research was carried out between July and September 2022, and was started after the decision of Samsun University Faculty of Medicine Non-Interventional Research Ethics Committee (16/02/2022 date and 2022/5/15) and permission of the hospital chief physician.
For demographic data, a questionnaire consisting of 25 questions containing the information of the parent and the child was used. According to the phone number available in the hospital registration system, the parents were called without knowing whether they were the mother or the father. The questionnaire was applied by telephone to those who wanted to participate in the study.
Information such as the participant’s age, gender, education level, occupation, child’s age, gender, mode of delivery, condition of staying in the neonatal intensive care unit, CHD, thyroid disease and drug use were questioned. The presence of prenatal diagnosis/high risk determination was noted. The health literacy levels of the participants in our study were measured with the European Health Literacy Scale (EHLS), which consists of 47 questions (Sørensen et al., 2015). EHLS is a reporting scale developed to evaluate HLS in people over the age of 15. The conceptual framework of the scale examines the health-related treatment and service and disease prevention and health promotion and also processes of accessing health-related information, understanding, evaluation, implementation and decision-making:
Each item is graded as 1 = Very hard, 2 = Hard, 3 = Easy, 4 = Very easy. The Code 5 was used for the expression “I don’t know.”
According to the answers given by the participants, they get a score between 0 and 50 points from the EHLS scale. Zero is considered the lowest health literacy, and 50 points as the highest health literacy. According to the scores obtained from the EHLS scale in our study, the participants;
0–25 points: insufficient health literacy;
>25–33 points: problematic-limited health literacy;
>33–42 points: adequate health literacy; and
>42–50 points: defined as excellent health literacy.
The scale was adapted into the Turkish language by Abacigil et al. (Abacigil et al., 2019).
Statistical analysis
IBM Statistics Package for Social Sciences Windows version 21.0 was used for data analysis. Categorical variables n (%), continuous variables with normal distribution as mean ± SD; continuous variables that were not normally distributed were expressed as median (minimum–maximum). A univariate analysis with Chi-square and Fisher’s exact test was used to observe the relationships between demographic data, clinical findings and agreement. Ninety-five percent confidence intervals were calculated for each variable. p < 0.05 was considered statistically significant.
Results
During the study period, 74 cases diagnosed with DS by the genetics department of our hospital were identified. Since five of the patients were foreign nationals and four of them did not want to answer the questionnaire, they were not included in the study. The median age of the parents was 40 years (min: 24 to max: 61), and 56.9% (n: 37) were mothers. The median age of the children was 50 months (min 4 months to max 20 years old), and 61.5% (n: 40) were male. Of all participants, 26.2% of the parents were primary school graduates, 43.1% had less income than their expenses and 40% were housewives. DS child was the median or the second child of the family (min 1 to max 10), and the median age of the mother at the time of delivery was 35 years (min 18 to max 45). Prenatal diagnosis and high-risk detection were present in 27.7% of pregnancies. For families with children with DS, health literacy increases with increasing levels of education and income, and living in urban areas. It was also observed that health literacy increased in case of desired pregnancy. The demographic characteristics and clinical data of the patients are summarized in Table 1.
The rate of those who were diagnosed in the newborn examination after birth was 68.1%, and the rate of those who stayed in the neonatal intensive care unit after birth was 58.5%. The median length of stay in the neonatal intensive care unit was seven days (min: 1 to max: 70). The characteristics of children with DS are summarized in Table 2.
According to the findings obtained from the study, it was found that the mean score of the EHLS scale was 25.06 ± 6.59. The EHLS index levels of parents with a child with DS are given in Table 3. According to the data, 63.1% of the parents were found to be inadequate, 18.5% problematic-limited and 18.5% sufficient. Any parent with excellent health literacy level was identified. Before the birth of a child with DS, 60% of the parents have never heard about any tests for DS.
Discussion
DS is the most common autosomal trisomy and is the most common genetic cause of moderate mental retardation in children. Since almost every organ system is involved, the follow-up and management of patients diagnosed with DS include genetics, pediatrics, cardiology, endocrinology, nephrology, gastroenterology, child psychiatry and physical therapy (Bull, 2020). Parental education is one of the most important issues regarding the management of DS children, because parents need to be aware of the different possible conditions associated with DS so that patients can be properly diagnosed and treated. In this study, it was aimed to investigate the health literacy levels of parents with a child with DS. It is worrying that four out of five parents have inadequate/limited health literacy.
Health literacy differs by country. It was reported that 47.6% of the participants who were involved in EU-HLS using the HLS-EU questionnaire, which was conducted in 8 European countries (Germany, Netherlands, Greece, Poland, Spain, Austria, Bulgaria and Ireland) in 2011 to determine the level of health literacy had a limited level of health literacy. In this study, it has been observed that health literacy may differ between countries, and that health literacy is generally low. It has been determined that people living in the same country who have low education and socioeconomic levels, and who are elderly have low health literacy (HLS-EU Consortıum, 2012). Inadequate/limited health literacy was found to be 81.6% in our study. In the study by Aygun et al., the participants were selected by systematic random sampling method and 67.3% had inadequate and problematic/limited health literacy. In this study, almost half of the participants were high school and university graduates. It was also conducted in a more developed city in the western region of Turkey (Aygun and Cerim, 2021). In another study, as a result of the assessment of 4,924 individuals in 23 different provinces in 12 regions between 2009 and 2012, it was found that 24% of the population had inadequate health literacy and 40.1% had limited health literacy. In other words, approximately 35 million individuals had inadequate and problematic health literacy. According to this study, education level, low socioeconomic and being old were found to be the reasons of problematic health literacy (Tanrıöver et al., 2014). Our study was conducted in a less developed city in the north of Turkey compared to the west and included a limited number of people because it was conducted with a special group. In addition, to the best of the authors’ knowledge, there was no previous study evaluating the health literacy of families with DS, so no comparison could be made. The educational status of these families was lower than the other people whose health literacy was evaluated, and it was seen that their health literacy should be improved. Thus, the support of families in terms of their children’s health will be more effective. The income of approximately one-tenth of the families was more than their expenses, and half of the parents were graduated from secondary school in terms of education. As the socioeconomic level and the incomes increased, the increase in health literacy was also present in our study. Moreover, in the study conducted by Sharav et al., it was shown that maternal education and the mental development of children with DS are parallel. The increase in parental education in all areas shows its importance for the development of children such as DS (Sharav et al., 1985).
There is a significant relationship between parental health literacy, health behavior and health outcomes of children with chronic diseases. It seems that better disease-specific knowledge and health literacy of parents for health interventions can improve and positively affect child health outcomes (Zaidman et al., 2023). It is expected that the health literacy scores of those working in the field of education or health are high (Xu L et al., 2020). Although there were parents working as health workers or educators, there were no participants with excellent health literacy levels.
In a study conducted with the inclusion of 19 articles on health literacy, it was found that the urban population had higher health literacy than the rural population. Developing countries were more likely to find differences between urban and rural areas than developed countries (Aljassim and Ostini, 2020). The health literacy level of the parents with DS living in the city center or in the county was higher than those living in the countryside/village. It is known from previous studies that men have lower health literacy than women. A study conducted in Australia showed that the more male-dominated the occupational group, the lower the health literacy scores are (Milner et al., 2020). However, it is seen that civil servants or self-employed people get health literacy points as much as housewives, and this score is limited health literacy. In developed countries, prenatal screening for DS is offered as part of routine antenatal care. For each woman, the risk of DS in the fetus is calculated using a computer algorithm that enters analysis values, demographic information such as gestational and maternal age, smoking status and diabetes. Numerical risk limit values used in clinical practice differ in reference points. Professional guidelines recommend posttest counseling, amniocentesis or chorionic villus sampling followed by genetic analysis for pregnant women with positive screening results (Savva et al., 2006). First trimester ultrasonography features that may indicate DS include increased nuchal translucency for gestational age and four other first trimester markers; absence of nasal bone, increased frontomaxillary angle, tricuspid valve insufficiency and absence or decreased flow in the ductus venosus (Cuckle and Maymon, 2016). Second trimester anomaly screening is routinely done in 18–20 weeks of pregnancy. weeks and measurements of increased nuchal translucency and femur-humerus lengths. It is trying to determine the high risk by looking at many factors. However, the rate of prenatal diagnosis or determination of high DS risk was 27.7% in our study. In a recent study from Turkey about the experiences of mothers with DS, it was determined that approximately 81.4% of families did not know about this condition before birth (Buyukavci et al., 2019). In a recent study, when DS risk increase was examined according to age groups after the age of 35, it was reported that the risk increase was 2 times in the 36–40 age group, 5 times in the 41–45 age group and 10 times in the 46–54 age group (Durmaz et al., 2021). In the same study, it was emphasized that advanced aged pregnancies increase the risk and advanced maternal age is still the most common risk for indication of genetic diagnosis for DS in the relevant center in Turkey. Families planning a pregnancy at an older age should be informed that advanced maternal age is a risk factor for DS and should be given information about this genetic disease. In addition, three out of five parents have never heard about any tests for DS. Of the 48.1% Romanian mothers did not know about DS screening tests (Pop-Tudose et al., 2018). This situation reveals how important it is to inform families.
Over the last two decades, there have been significant advances in the treatment and care of individuals with DS, contributing to a significant increase in life expectancy. However, individuals with DS continue to have a higher rate of mortality and morbidity compared to both the general population and individuals with other types of intellectual disabilities (McKenna et al., 2023). In this case, better health literacy of caregivers means that the individual with DS can live longer in better conditions and will help them live a healthy life.
Limitations
To the best of the authors knowledge, it is the first study on health literacy applied to mothers and fathers with children with DS, and no comparison could be made. Multicenter studies with larger participation are needed to represent a larger population. The collected data of our study is based on questionnaire. Therefore, the answers of the families may not reflect the truth. This may have affected the results of the study. The small number of our study group is also among the limitations. The fact that families do not question the sources of screening tests for DS can be defined as a limitation. Studies involving parents of children with genetic diagnosis, including more patients, will provide us with detailed information about health literacy.
Conclusions
Health literacy is expressed as the degree to which individuals have the capacity to process and understand basic health information needed to make correct health decisions. Having a child with DS means that he/she should be followed up for variety of conditions from eye diseases to heart diseases, may need some operations including cardiac or gastrointestinal and may need to use various medications.
Families should be informed about screening tests and what to expect if their child has DS. The contribution of obstetricians, family physicians and pediatricians for prediagnosis, postdiagnosis, birth and developmental periods will be very positive for families. Thus, informing them about the potential conditions, diseases and treatments awaiting them will increase their health literacy and provide positive developments for their children. Although there is an increased prevalence of some health conditions in children with DS, many children are healthy or have effective treatments for most of their existing conditions.
It is known that strengthening health literacy can improve health and well-being by building individual and social resilience. In the name of public health, improving the health literacy of the whole society should be a priority in every field of health at every step. Improving health literacy for families who have or will have children with DS will make life easier for these children and allow them to live longer and healthier lives.
Acknowledgements
This work was supported by Pediatricians, Samsun University Child Hospital, Department of Pediatrics. The funders had no involvement in the study design; collection, analysis and interpretation of data; writing of the report; or decision to submit the article for publication. The authors would like to thank all our patients and their parents.
Authors’ contributions: All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by Gülfer AKÇA and Aslıhan SANRI. The first draft of the manuscript was written by Gülfer AKÇA and Ünal AKÇA. All authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.
Compliance with ethical standards: Funding: The authors declare that no funds, grants or other support were received during the preparation of this manuscript.
Conflicts of interest: The author have no relevant financial or non-financial interests to disclosure.
Ethics approval: This study received research ethics board approval from Samsun University Clinical Research Ethics Committee. (SUCREC-2022/5/15).
Inform consent: All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.
Consent to participate: Written informed consent was obtained from the parents.
Consent for publication: The authors affirm that human research participants provided informed consent for publication.
general descriptive statistics of demographic variables (n = 65)
| Category | n | EHLS mean score ± SD | F | t | p-value |
|---|---|---|---|---|---|
| Parent | |||||
| Mother | 37 | 24.67 ± 6.87 | 0.368 | 0.005 | 0.546 |
| Father | 28 | 25.57 ± 6.29 | |||
| Level of education | |||||
| Primary school and below | 20 | 21.95 ± 5.24a | |||
| Middle school-high school | 29 | 23.50 ± 4.67a | 16.934 | 0.353 | **<0.001 |
| University | 16 | 31.77 ± 6.56b | |||
| Income rate | |||||
| Income < expenditure | 28 | 21.81 ± 4.56a | 8.926 | 0.224 | **<0.001 |
| Income = expense | 31 | 26.78 ± 6.78a,b | |||
| Income > expense | 6 | 31.33 ± 6.78b | |||
| Living place | |||||
| Town center | 27 | 27.35 ± 6.85a | |||
| District | 20 | 25.70 ± 7.31a | 6.118 | 0.165 | *0.040 |
| Village-town | 18 | 20.92 ± 3.51b | |||
| Planned pregnancy | |||||
| Yes | 40 | 26.51 ± 7.19 | 5.321 | 0.078 | *0.024 |
| No | 25 | 22.75 ± 4.77 | |||
| Special education | |||||
| Yes | 52 | 25.20 ± 6.61 | 0.109 | 0.002 | 0.742 |
| No | 13 | 24.51 ± 6.73 | |||
| Job | |||||
| Self-employment | 17 | 22.39 ± 2.79a | |||
| Officer | 6 | 22.13 ± 2.77a | |||
| Housewife | 26 | 22.03 ± 4.77a | 24.480 | 0.675 | **<0.001 |
| Trainer | 5 | 28.54 ± 3.34b | |||
| Medical worker | 9 | 36.57 ± 3.96b | |||
| Maternal age | |||||
| 18–25 years old | 2 | 28.38 ± 11.41 | 1.388 | 0.053 | 0.259 |
| 26–35 years | 16 | 27.37 ± 6.12 | |||
| 38–45 years | 35 | 24.28 ± 6.71 |
Notes:*Statistically significant at p < 0.05; **Statistically significant at p < 0.001; The terms “a” and “b” reflect the results of the post hoc analysis
Source: Table by authors
Characteristics of children with Down syndrome
| Category | N | % |
|---|---|---|
| Gender | ||
| Boy | 40 | 61.5 |
| Girl | 25 | 38.5 |
| Type of birth | ||
| NSVY | 27 | 41.5 |
| C/S | 38 | 58.5 |
| Having prenatal diagnosis/high risk detection | ||
| Yes | 18 | 27.2 |
| No | 47 | 72.3 |
| Time of diagnosis | ||
| Antenatal | 41 | 63.1 |
| At the first newborn examination | 14 | 21.5 |
| Two months later | 6 | 9.2 |
| Three months later | 2 | 3.1 |
| Four months later | 2 | 3.1 |
| Hospitalized in newborn the intensive care unit | ||
| Yes | 38 | 58.5 |
| No | 27 | 41.5 |
| Having heart disease | ||
| no | 17 | 26.2 |
| AVSD | 21 | 32.3 |
| ASD | 21 | 32.3 |
| VSD | 3 | 4.6 |
| PA | 2 | 3.1 |
| Having an operation | ||
| Yes | 21 | 32.3 |
| No | 44 | 67.7 |
| Having thyroid disease | ||
| Yes | 16 | 24.6 |
| No | 49 | 75.4 |
| Taking medication | ||
| No | 38 | 58.5 |
| L-Thyroxine | 15 | 23.1 |
| Vitamin D | 7 | 13,8 |
| Risperidone | 1 | 1.5 |
| Digoxin-captopril | 1 | 1.5 |
| IV immunoglobulin (ivig) | 1 | 1.5 |
| Valproate | 2 | 3.1 |
Notes:AVSD = atrio-ventricular septal defect; ASD = atrial septal defect; VSD = ventricular septal defect; NSVD = normal spontaneous vaginal delivery; PA = pulmonary atresia; C/S = cesarean section
Source: Table by authors
Europe Health literacy scale (EHLS) total score average and EHLS index
| Mean score | % 95 Confidence interval | |
|---|---|---|
| General | 25.06 | 23.42–26.69 |
| AHRI | 26.95 | 25.17–28.73 |
| AHRU | 28.17 | 26.17–28.73 |
| AHRE | 22.72 | 20.71–24.73 |
| AHRID | 22.40 | 20.55–24.25 |
| HT | 26.61 | 24.42–28.80 |
| AHRI | 27.94 | 25.62–30.27 |
| AHRU | 30.51 | 28.80–32.21 |
| AHRE | 23.07 | 20.66–25.49 |
| AHRID | 24.93 | 22.60–27.26 |
| DP/HP | 23.50 | 21.67–25.43 |
| AHRI | 25.96 | 24.64–27.66 |
| AHRU | 25.83 | 23.90–27.76 |
| AHRE | 22.37 | 20.25–24.48 |
| AHRID | 19.87 | 17.89–21.84 |
Notes:HT = health-related treatment and service; DP/DT = disease prevention and health promotion; AHRI = accessing health-related information; AHRU = accessing health-related understanding; AHRE = accessing health-related evaluation; AHRID = accessing health-related implementation and decision-making
Source: Table by authors
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