الفهرس 
Overview of the Phenylketonuria DiseaseOnly 14 pages are availabe for public view
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Abstract
Phenylketonuria (PKU) is a rare genetic condition that is present from birth (congenital). In PKU, the body is unable to break down phenylalanine, which then builds up in the blood and in the brain. Left untreated, high phenylalanine levels disrupt the normal development of a child’s brain and can cause severe learning difficulties. A person with the most severe learning difficulties has mental abilities similar to those in a one or two year old infant and would require 24 hour care for the whole of their life. Treatment consists of a special diet that contains very little phenylalanine. This diet must be used throughout the patient’s life. Untreated newborns develop disease symptoms at age three to five months. At first they appear to be less attentive and may have eating problems. By one year of age, they are mentally retarded.
Family coping is defined as a process of family adaptation that involves coping strategies within the family and community. The parents of child with a chronic condition have to cope with the burden of daily care related to the illness. Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important that they stay on the diet for the rest of their lives. Development of effective coping patterns allows mothers of PKU children to release stress and improve family functioning.
The aim of this study is to assess the mother coping of children suffering from PKU through determining the mother’s coping pattern to The study will conduct at genetic clinic affiliated to pediatric hospital of Ain Shams University ward their children with PKU. The sample of the study involved 125 children suffering from PKU and their mothers. from both sex, aged 2-12 years. Data obtained through an interview with the PKU children and their accompanying mother though using the following tools:
The first tool:-
A pre-designed questionnaire was developed by investigator and it was written in simple Arabic language, it included the following:-
- Socio-demographic data of the PKU children Include gender, age, level of education and child rank.
- Socio-demographic data of the mothers and fathers include age, level of education and occupation.
- Data regarding the child’s medical history. Data regarding assessing mother’s knowledge about PKU, causes, signs and symptoms, risk factor, complication, and management.
- Data regarding children health needs and problems related to PKU by mother’s role toward the needs and problems for the children.
The second tool:-
Coping pattern scale by (Jalowic, 1991) it was used to assess of coping pattern for mother it was consists of two items Patterns solve the problem and Patterns of emotional adjustment every items contain some of point.
The third tool:-
Children’s medical record to assess health status of children which included the evaluate physical ,circulatory, respiratory, urinary tract, Nervous system and motor and skin condition for the child also included the results of laboratory investigations.
The pilot study was conducted on 10 % children and their mothers to test the feasibility of the tools and the time consumed for filling in the questionnaire and also to test the language clarify of the tools. Data obtained from the pilot study was analyzed and according the necessary modifications was done. The number of the pilot study was excluded from the study sample.
The main findings of the study can be summarized as the following:-
As regards characteristics of the study of the studied children it was found that 51.2 % from the studied children were male and 48.8 % of them were female. Which 52.8% their age was ranged from 2< 6 year, and 80.8% of them were illiterate.
As regards that parents’ age it was found that, 56.8% of fathers and 70.0% of mothers were ranged age from 30 < 40 years. 56.8% from fathers and 44.0% from mothers received average education, 38.4% from Father’s occupation were government employees, while 92.0% from mothers didn’t work. 79.2% of the studied children family monthly income was inadequate.
As regards medical history of the studied children it was found that 45.6% from the studied children were begin the disease from 1 < 3 years. 88.8% of the children were the discovery of the disease from investigation, 98.4% the degree of the follow up was regular, 81.6% from their family no other family member suffers from PKU, 16.0% the relationship of the family member suffered from the disease was the first degree and 68.0% there are complications of the disease.
As regards Mothers’ knowledge about the disease that 97.6% of mothers responded about the definition of the disease is a genetic disease, 94.4% of them reported causes of PKU was hereditary reasons, 36.8% know the signs and symptoms of PKU 72.8% of them able to determine The different methods of the treatment of PKU which It is a specific diet and Follow up. 45.6% of them able to determine the complications of disease as Behavioral problems, Delayed growth and mental and social skills, Seizures and mental retardation, Rash and prone. 77.6% of mother able to protect the child from complications though regular check-ups and specific diet. 100.0% of them know the source of the information about disease (PKU) though doctors team at the hospital or clinic.
There is a statistically non-significant relation between coping pattern and Socio-Demographic. The proportion of mothers with Acceptable practice tends to have good coping
There is a statistically non-significant relation between mother practice and Socio-Demographic. The proportion of mothers with Acceptable practice tends to have good coping
There is a statistically non-significant relation between Knowledge and Socio-Demographic. The proportion of mothers with satisfactory tends to have good Knowledge Level.
There was a non-statistical significant relation between child needs and total coping level.