الفهرس 
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Abstract
Branched-chain keto-aciduria (BCKA) also called maple syrup urine disease (MSUD) is an autosomal recessive disease caused by defective function of Branched-Chain α-Keto-acid Dehydrogenase complex (BCKD). It was now considered one of the commonest metabolic disordered. The screening test should be done within one week of birth. In Egypt, this screening is not routine consequently, it was discovered late and numbers of pediatric patients with BCKA increasing.
Aim of study
The present study was conducted with the aim of study was to assess mothers care for children suffering from Branched Chain Keto Aciduria through:
1. Assess the mother`s knowledge about BCKA.
2. Assess the mother`s self-reported practice toward care their children suffering from BCKA.
Research questions
1. What is the mother`s knowledge about the care of their children suffering from BCKA?
2. What the mother`s self-reported practices toward caring for their children suffering from BCKA?
3. Is there a relation between the mother`s characteristics and their care for children suffering from BCKA?
The subjects and methods of the current study will be discussed under the following four main designs:
I. Technical design.
II. Operational design
III. Administrative design
IV. Statistical design.
I-Technical Design:
The technical design for the study includes research design, setting, subject and tools of data collection.
Research Design: A descriptive design was utilized to carry out the study.
Study Setting:
This study was conducted at the Specialized Genetic Outpatient Clinic of Pediatric Hospital affiliated to Ain Shams University Hospitals.
Study Subjects:
A purposive sample which included 100 mothers accompanying their children with BCKA within six months duration according to the following inclusion criteria; their age from birth to 9 years old and had no congenital anomalies.
Tools of data collection:
To collect the required data, the following tools were used:
1: A structure Interview Questionnaire format (Appendix II):
This tool was designed by the researcher based on Feldmann et al., (2018), and modified by the researcher after revised by supervisors and jury committee. It was used to assess the studied mother’s knowledge about BCKA and care of their children with BCKA, it was written in Arabic language for gathering data in relation to the following parts:
Part one: Included characteristics of children with BCKA and characteristics of their mothers.
Part two: Included medical history of children with BCKA.
Part three: Included assessment of children’s health needs and problems.
Part four: Included mothers’ knowledge about BCKA and their care for their children.
2: Mothers’ Self - Reported Practices format (Appendix III):
It was adapted by the researcher from Kimberly, (2018), and it revised by supervisors, to assess the studied mothers’ self-reported practices for their children with branched chain keto-aciduria.
3: Child’s Medical Record (Appendix III):
II- Operational Design:
The operational design of this study included the preparatory phase, validity, and reliability of the developed tools, pilot study, and field work.
A-Preparatory Phase:
The researcher reviewed the local and international related literature and studies covering various aspects of the research problem to develop the study tools.
Tools Validity and Reliability:
Content validity was checked before the pilot study and the actual data collection through distribution of the tools to five expertise in the field of the study (three professors of medical genetics in Faculty of Medicine and two professors of pediatric nursing in Faculty of Nursing, Ain Shams University). Their opinions elicited regarding the form of omission, layout, consistency, accuracy, and relevancy of three tools. Modification and minimal changes were applied as required on clarity of sentences and appropriateness of content.
Reliability analysis: Using chronbach’s Alpha Test, it was found that the internal consistency reliability was acceptable (α=0.802 for mother’s knowledge and α=0.896 for mother’s self- reported practices).
B- Exploratory Phase:
• Pilot study:
The pilot study was carried out during May 2018 involving 10 mothers those represent 10% of total sample at the Specialized Genetic Outpatient Clinic of Children’s Hospital affiliated to Ain Shams University Hospitals in order to test the applicability of the constructed tools and the clarity of the included questions related to mother’s knowledge and practices regarding to care of their children suffering from BCKA. The pilot has served to estimate the time needed for each subject to fill in the knowledge and practices the questionnaires. According to the results of the pilot, some corrections and omissions of items were performed as changing the format of some questions from a list question to MCQ questions as mother’s caring role and time of follow up, so the mothers were included in the pilot study not sharing in the study sample.
• Field Work:
Data were collected in six months, from the first of July 2018 up to December 2018.The researcher was visiting the study setting 2 days/week at morning shift (Sunday and Thursday) in the Genetic Out-patient Clinic Ain-Shams Hospital from 9 Am to 2 pm. The researcher met the studied mothers individually at waiting area at Out-patient Clinic to explain the purpose of the study after introducing herself and collect data. The researcher used face- to -face interview as the researcher read the questions and possible answers to the mothers and filled their response in the knowledge and practices as it took about 15-25 minutes to fill or answer the questionnaires.
III-Administrative Design:
Official permission was obtained from the Medical Director of Children’s Hospital Ain Shams University as well as formal letters were issued from the dean of faculty of Nursing, Ain shams University. An oral approval to carry out the study was taken from the children with BCKA and his/her accompanying mothers as well.
Ethical Consideration:
A clear, simple clarification of the study nature and its expected outcomes was explained to each study subject. All mothers’ were secured and ensured that they have rights to withdraw from the study at any time. They were informed that the given information will be used only for research purposes.
IV-Statistical Design:
Results:
The main results obtained from the study were presented can be summarized as follow:
The present study showed that, the mean children’s age was 3.82± 2.97 years and 64% of them were male.
The present study revealed that 70% of the studied children did not attend school yet, and 52% of them ranked as the second child within their families.
The present study illustrated that the mean age of studied mothers were 33.8 ± 1.35 years. According to marital status, 68% of mothers were married, and 36% of them had high education. Also, 60% of them are house wife, and from urban areas.
The present study illustrated that 74% had positive parents’ consanguinity, and 81.1% of them were the first degree consanguinity.
The present study showed that the mean weight and height of children were 19.9±8.5 kg and 95±15.2 cm. While 72% of children were underweight.
The present study indicated that 71% of the studied mothers’ had unsatisfactory total level of knowledge.
The present study showed that 31% of mothers had good total level of self -reported practices, while 69% of them had poor self -reported practices.
The present study showed that there was a statistically significant difference between the studied mothers’ total knowledge and total self reported practices about caring of their children with branched chain keto-aciduria with (p-value <0.001).
The present study revealed that there was a positive correlation between total score of mothers’ knowledge and total score of their reported practices at the level with (P-value= 0.01).
Conclusion:
Based on the present study findings and research questions, it was concluded that, most of the studied mothers had unsatisfactory total knowledge and the majority of them had poor total self -reported practices about care of their children with BCKA. There were highly statistically significant relation between the studied mother’s characteristics (age, marital status, residence, educational level and working state) and care for their children suffering from BCKA. Similarity, there was a positive correlation between mother’s knowledge about BCKA and their reported practices.
Recommendations:
In the light of the study findings the following recommendations are suggested:
- Early screening tests for early detection of BCKD disease in neonates should be obligatory strongly applied as previously applied for congenital hypothyroidism & phenylketonuria.
- Teaching program for families having children with BCKA is important to raise their knowledge about the disease, its management and prevention of complications.
- Design and implement protocols about BCKA for all care providers and in order to provide health education for caregivers.
- Specific training about practices at home for mother of their children having BCKA should be considered on future education in the study setting.
- Future research should be focused on measuring the prevalence of BCKA in Egypt and investigating the risk health problems among mothers of children with BCKA.