الفهرس 
IntroductionOnly 14 pages are availabe for public view
 |  | from | 218 |  |  |
| | | from | 218 | | |
Abstract
M
ethylmalonic Acidemia (MMA) is an inborn error of metabolism resulting from genetic defects in Methylmalonyl-CoA Mutase (MCM). This enzyme is encoded by the MUT gene and is required for the degradation of odd-chain fatty acids, the amino acids valine, isoleucine, methionine, and threonine, and cholesterol. It an autosomal recessive metabolic disorder that can be classified into two types: (1) vitamin B12-responsive and (2) vitamin B12-non-responsive. MMA is treated with a low-protein, high-calorie diet, certain medications, antibiotics and, in some cases, organ transplantation.
Aim of study:
The present study was conducted with the aim of study to assess mothers’ knowledge towards care of their children suffering from methylmalonic academia.
Research Questions:
1. Are the mothers having satisfactory knowledge about care of their children suffering from MMA?
2. Are the mothers having adequate total reported practices about care of their children suffering from MMA?
3. Are there relation between the mothers’ total knowledge and total reported practices towards care of their children suffering from MMA and their characteristics?
4. Are there relation between the characteristics of mothers and the clinical picture of the disease and its extent or improvement?
The subjects and methods of the current study were discussed under the following four main designs:
I. Technical design.
II. Operational design.
III. Administrative design.
IV. Statistical design.
Technical Design:
¬The technical design for the study includes research design, setting, subject and tools of data collection.
Research Design:
A desc¬¬¬¬riptive design was utilized to carry out the aim of this study.
Research Setting:
This study was conducted at the Specialized Genetic Outpatient Clinic in Pediatric Hospital affiliated to Ain Shams University Hospitals which is one of the largest hospitals in Cairo, provides services for a large number of children’s suffering from MMA and other genetic disorders. The specialized genetic outpatient clinic on the ground floor and consists of five rooms every room contains two beds to receive children suffering from MMA and others genetic disorder.
Study Subject:
A purposive sample included 50 mothers accompanying their children suffering from MMA within six months duration according to the following inclusion criteria:
• Mothers having children suffering from MMA.
• Age of their children were ranged from birth to 9 years old.
• Children with no congenital anomalies or chronic disease.
Tools of data collection:
Following tools were used to collect the required data:
I. Interview Questionnaire format (Appendix II):
This tool was designed by the researcher based on Hoffmann et al., (2018) and modified by the researcher and revised by supervisors. It was used to assess the studied mother’s knowledge about MMA and care of their children with MMA, it was written in Arabic language for gathering data in relation to the following parts:
Part one: It included characteristics of the studied subjects:
a. Characteristics of the studied mothers as age, level of education, marital status, and residence.
b. Characteristics of the children with MMA as gender, age, birth order, educational level and number of siblings.
Part two: Included medical history of children suffering from MMA as the duration of the disease, way of discovery the disease, manifestations appeared on the child and time it’s appeared, previous hospitalization, complications of disease, regular follows up, regular investigation and family history, which contained (12) questions.
Part three: Included assessment of children and their health needs and problems as; weight, height, body mass index, child health needs, and problems. It included five items with (41) questions.
Part four: It included mothers’ knowledge about MMA and their care for their children as concept, causes, signs and symptoms, diagnosis of MMA, treatments, complications, proper nutrition, mothers knowledge according to their role in caring for their children with MMA. This part was assessed by 35 closed ended question items.
Scoring system:
The studied mother’s knowledge was checked with a model key answer by the researcher, each question was given zero if indicated incorrect answer or don’t know, while a score one indicated correct answer. The total score was 35grades equal 100%. Accordingly, the total mothers’ knowledge was classified as the following:
• Satisfactory ≥ 50%
• Unsatisfactory < 50%
II. Mothers’ Reported Practices format (Appendix III):
It was adapted from Robinson and Drumm, (2018). To assess the studied mothers’ total reported practices for their children suffering from methylmalonic acidemia.
It included main 7 domains that consisted of 47 items with yes/no answer format. It was distributed as the follows measurement diet balance (4 items), physical sports (4 items), dental care (8 items), follow up of weight at home (5 items), give the food diet by Ryle and take care at home (10 items), daily mothers observation (7 items), and measuring blood sugar in the home (9 items).
Scoring system:
Regarding mothers’ reported practices, each statement was given zero if the action not done and one score if the action is reported incomplete correctly done and two scores if the action is reported complete correctly done. The total score 94 grades equal to 100% classified as the following:
• Adequate reported practices ≥ 60%
• In adequate reported practices < 60%
Operational Design:
The operational design of this study included the preparatory phase, validity, and reliability of the developed tools, pilot study, and fieldwork.
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 knowledge and α=0.896 for practices).
Ethical Consideration:
Approval of the study protocol was obtained from ethical committee in the faculty of nursing at Ain Shams University before starting the study. All the collected data was used for research purpose only, also anonymity and confidentiality of the obtained data was guaranteed. The researcher clarified the aim and expected outcomes of the study to the mothers included in the study. Mothers were informed that they were allowed to choosing to participate in the study or not, and they had the right to withdraw from the study at any time without giving any reason.
Pilot study:
The pilot study was carried out during May 2019 involving 5 mothers those represent 10% of total sample at the previously mentioned setting in order to test the applicability of the constructed tools and the clarity of the included questions related to mother’s knowledge and reported practices regarding to care of their children suffering from MMA. The pilot has served to estimate the time needed for each subject to fill in 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 2019 up to December 2019. The researcher was visiting the study setting 2 days/week at morning shift (Sunday and Thursday) in the previously mentioned setting 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 reported practices as it took about 15-25 minutes to fill or answer the questionnaires.
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 mothers of children with MMA and children as well.
Statistical Design:
The main results of the study revealed that:
The present study illustrated that the mean age of studied mothers were 26.9 ± 4.96 years. According to marital status, 84% 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 showed that, the mean age of studied children’s was 4.8 ± 2.94 years and 64% of them were male.
The present study revealed that 70% of the studied children primary school, and 64% of them ranked as the second child within their families.
The present study illustrated that 76% had positive parents’ consanguinity, and 63.3% of them were the first degree consanguinity.
The present study showed that the mean weight and height of children were 25.0±6.7 kg and 96.2±12.27cm. While 64% of children were underweight.
The present study indicated that 64% of the studied mothers’ had unsatisfactory total level of knowledge.
The present study showed that 32% of mothers had total adequate level of self -reported practices, while 68% of them had inadequate self -reported practices.
The present study showed that there was a statistically significant difference between the studied mothers’ total knowledge and total reported practices about caring of their children with methylmalonic academia 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).