Growth and Development of Children With Inborn Errors of Metabolism in Assiut Governorate
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 201
- 试验地点
- 1
- 主要终点
- • To assess weight (in kilograms) of children with IEM in Assiut governorate.
研究概览
简要总结
Assessment of growth and development of children with inborn errors of metabolism in Assiut Governorate
详细描述
Inborn errors of metabolism (IEM) are diseases resulting in deficient activity of an individual enzyme, structural protein in an intermediate metabolic pathway, present clinically in a wide variety of ways a ranging from non-specific chronic issues such as childhood delay in attaining development milestones, to acute decompensation.
The prevalence of all of inborn errors of metabolism globally is 50.9/100000 live birth, In Egypt the prevalence among clinically suspected children is 7.8%.
A study conducted in Minia Governorate (Egypt) on children less than 18 years included 67 children showed that 65.7% of children were under height. Also a study conducted in upper Egypt on 113 PKU patients showed that global developmental delay 54.9% was the most frequent presentations of PKU children. Parents of children with IEM face many challenges; as the financial burden and perceived restrictions in all aspects of life, discrimination by society in general, and the main challenge is dietary restrictions.
Rationale:
Despite being rare in Egypt, IEM are regarded as a national priority because of the substantial health burden they place on the growth and development of the affected children, which can range from delayed achievement of developmental milestones to acute decompensation and death.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- 1 Month 至 5 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Under five years old children with confirmed diagnosis of IEM.
- •Attending the study settings.
排除标准
- •Patients diagnosed since birth with dysmorphic features.
- •Patients diagnosed since birth with congenital anomalies.
- •Patients with other neurological deficits (e.g. cerebral palsy, convulsions, birth anoxia.....)
结局指标
主要结局
• To assess weight (in kilograms) of children with IEM in Assiut governorate.
时间窗: 1 year
The weight will be measured to the nearest 0.1Kg and the patients in light clothes and bare feet. The child weight will be measured and the measurements will be plotted on the Egyptian growth charts of girls and boys for different ages from birth to five years old in order to assess their growth.
• To assess height (in meters) of children with IEM in Assiut governorate.
时间窗: 1 year
If the child is less than 2 years old or is unable to stand recumbent length will be measured to the nearest 0.1 cm. If the child is aged 2 years or older and able to stand, standing height will be measured to the nearest 0.1 cm. The child height will be measured and the measurements will be plotted on the Egyptian growth charts of girls and boys for different ages from birth to five years old in order to assess their growth.
• To assess the body mass index for age (BMI for age in kg/m^2) of children with IEM in Assiut governorate.
时间窗: 1 year
Body mass index for age (BMI for age) will be calculated in kg/m\^2 and plotted on the Egyptian growth charts of girls and boys for different ages from birth to five years old in order to assess their growth.
To assess development of children with IEM in Assiut governorate using the arabic version of the third edition of the Ages and Stages Questionnaires.
时间窗: 1 year
The Arabic version of the third edition of the Ages \& Stages Questionnaires (ASQ-3) will be used to identify developmental growth in children from one month to five and a half years . it measures development in 5 key domains: communication, gross motor, fine motor, problem solving, and personal-social domain. Each response on the questionnaire will be converted to a numerical value (usually equal to 10, occasionally to 5, and not yet to 0) in order to determine the score, then each domain's overall score will be summed. ASQ-3 has three scoring zones and the higher the score the better the child development for each developmental area separately.
• To assess knowledge of the mother regarding the child metabolic disease and dietary recommendations using a questionnaire to be designed.
时间窗: 1 year
Knowledge regarding the child inborn metabolic diseases such as disease definition, symptoms necessitate immediate hospital admission, disease complications, dietary requirement and restrictions.
Assessment of mother's practice using a questionnaire to be designed.
时间窗: 1 year
Dietary practice, child care, vaccination and follow up.
次要结局
未报告次要终点
研究者
Samar Abd El-mohsen Mahfouz
Assistant lecturer
Assiut University