Growth and Development of Children With Inborn Errors of Metabolism in Assiut Governorate

NCT06654765 | Not Yet Recruiting

• 1 other identifier: Inborn errors of metabolism
• Study Type: observational
• Target: 201
• Locations: 1 country
• Sites: 1

Brief Summary

Assessment of growth and development of children with inborn errors of metabolism in Assiut Governorate

Conditions

Inborn Errors of Metabolism

Keywords

Growth; Development; IEM; Assiut

Outcome Measures

Primary Outcomes (6)

• • To assess weight (in kilograms) of children with IEM in Assiut governorate.

  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.

  1 year

• • To assess height (in meters) of children with IEM in Assiut governorate.

  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.

  1 year

• • To assess the body mass index for age (BMI for age in kg/m^2) of children with IEM in Assiut governorate.

  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.

  1 year

• To assess development of children with IEM in Assiut governorate using the arabic version of the third edition of the Ages and Stages Questionnaires.

  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.

  1 year

• • To assess knowledge of the mother regarding the child metabolic disease and dietary recommendations using a questionnaire to be designed.

  Knowledge regarding the child inborn metabolic diseases such as disease definition, symptoms necessitate immediate hospital admission, disease complications, dietary requirement and restrictions.

  1 year

• Assessment of mother's practice using a questionnaire to be designed.

  Dietary practice, child care, vaccination and follow up.

  1 year

Eligibility Criteria

• Age: 1 Month - 5 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

Study Population

Under five years old children with confirmed diagnosis of IEM who are attending the study settings

You may qualify if:

• Under five years old children with confirmed diagnosis of IEM.
• Attending the study settings.

You may not qualify if:

• 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…..)

Sponsors & Collaborators

• Assiut University: lead

Study Sites (1)

• Genetic counselling center at Al Weladea neighbourhood in Assiut governorate. • Genetics Center at Al-Iman General Hospital in Assiut governorate. • Genetics clinic at Assiut University paediatrics' hospital.

Asyut, Egypt

Location

Related Publications (5)

• Duggan C, Irvine AD, O'B Hourihane J, Kiely ME, Murray DM. ASQ-3 and BSID-III's concurrent validity and predictive ability of cognitive outcome at 5 years. Pediatr Res. 2023 Oct;94(4):1465-1471. doi: 10.1038/s41390-023-02528-y. Epub 2023 Feb 25.

  PMID: 36841883 BACKGROUND

• El Shafie AM, El-Gendy FM, Allahony DM, Hegran HH, Omar ZA, Samir MA, Kasemy ZA, El-Bazzar AN, Abd El-Fattah MA, Abdel Monsef AA, Kairallah AM, Raafet HM, Baza GM, Salah AG, Galab WS, Alkalash SH, Salama AA, Farag NA, Bahbah WA. Development of LMS and Z Score Growth References for Egyptian Children From Birth Up to 5 Years. Front Pediatr. 2021 Jan 18;8:598499. doi: 10.3389/fped.2020.598499. eCollection 2020.

  PMID: 33537262 BACKGROUND

• Padeniya RN, Thushari G, Nissanka DH, Shashika C, Munasinghe DH, Aberathne DM, Weerawardena PL, Galgamuwa LS, Kumarasinghe N, Liyanage L. Maternal coping strategies in response to child's oncological diseases in Sri Lanka. Acta Oncol. 2020 Jul;59(7):866-871. doi: 10.1080/0284186X.2020.1750695. Epub 2020 Apr 14.

  PMID: 32286131 BACKGROUND

• Waters D, Adeloye D, Woolham D, Wastnedge E, Patel S, Rudan I. Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence. J Glob Health. 2018 Dec;8(2):021102. doi: 10.7189/jogh.08.021102.

  PMID: 30479748 BACKGROUND

• Agana M, Frueh J, Kamboj M, Patel DR, Kanungo S. Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice. Ann Transl Med. 2018 Dec;6(24):469. doi: 10.21037/atm.2018.12.34.

  PMID: 30740400 BACKGROUND

MeSH Terms

Conditions

Metabolism, Inborn Errors

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Sabra Mohamed Ahmed, Prof. Dr

  Assiut University

  STUDY DIRECTOR

• Taghreed Abdel-Aziz Mohamed, Prof. Dr

  Assiut University

  STUDY DIRECTOR

• Samar Mahfouz, assistant lecturer

  Assiut University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Samar Mahfouz, assistant lecturer

CONTACT

01006534339; samarmohsen2030@gmail.com

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant lecturer

Study Record Dates

• First Submitted: October 15, 2024
• First Posted: October 23, 2024
• Study Start: August 1, 2025
• Primary Completion (Estimated): October 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: October 23, 2024

Record last verified: 2024-09

Locations

EG (1)