الفهرس 
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Abstract
Summary
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
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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.
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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.
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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.
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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.
Conclusion:
In conclusion the finding of this study revealed that
51.2 % of the studied children were male and 48.8 % of
them were female. Which 52.8% their age was ranged from
2- 6 year while 80.8% of them were Illiterates. As will as
88.8% of them were the discovery of the disease from
investigation, 49.0% of the children with PKU had over
weight. 48.0% of the children with PKU had short length.
71% of the children with PKU had high of phenylalanine
level. Indeed The proportion of mothers with Acceptable
practice tends to have good coping. In addition to the
proportion of mothers with satisfactory tends to have good
knowledge level. While there was a non-statistical
significant relation between child needs and total coping
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level As well 55.2% of mothers had satisfactory total
knowledge about PKU. 60.0% of the mothers had
acceptable practices about PKU. 68.0% of the mothers had
good coping of children suffering from PKU. There is a
statistically highly significant positive relation between
knowledge and practice. There is a statistically highly
significant positive relation between knowledge and coping
pattern of mothers with Satisfactory tends to have good
coping. There is a statistically non significant relation
between coping patterns and Socio-Demographic. There is
a statistically non significant relation between coping
patterns and Socio-Demographic data.
Recommendations:
In the light of finding of the present study, the following
recommendations are suggested:
1- Emphasizing the importance of early cases finding
control and management through national screening
and surveying programs targeting PKU children.
2- Some researches done to improving early diagnosis,
discovering new and more effective treatments and
finding a cure.
3- Raise mothers‘ health awareness through education
training programs to educate them about metabolic
diseases.
4- Centralization of information: To create a central pool
of information for each metabolic disease of interest to
our members.
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5- Encourage the importance of regular follow –up and
regular investigation of children with PKU to ensure
proper PKU and early detection of complication.
6- Genetic counseling should be provided as an ongoing
process for individuals with PKU and their famili