Inborn Errors of Metabolism
Conditions
Keywords
Growth, Development, IEM, Assiut
Brief summary
Assessment of growth and development of children with inborn errors of metabolism in Assiut Governorate
Detailed description
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. However, there is lack of longitudinal studies in Egypt that focus on how IEM affect physical development and growth, as well as the difficulties parents encounter while caring for their children and following up with them. To our knowledge, no local studies have been conducted in this field before.
Interventions
None listed
Sponsors
Assiut University
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Months to 5 Years
Healthy volunteers
No
Inclusion criteria
* Under five years old children with confirmed diagnosis of IEM. * Attending the study settings.
Exclusion criteria
* 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…..)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Assessment of mother's practice using a questionnaire to be designed. | 1 year | Dietary practice, child care, vaccination and follow up. |
| • To assess weight (in kilograms) of children with IEM in Assiut governorate. | 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. | 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. | 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. | 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. | 1 year | Knowledge regarding the child inborn metabolic diseases such as disease definition, symptoms necessitate immediate hospital admission, disease complications, dietary requirement and restrictions. |
Countries
Egypt
Contacts
Primary ContactSamar Mahfouz, assistant lecturer
Outcome results
None listed