Assessment of Cognitive Function and Quality of Life in Thalassemic Children at Sohag University Hospital

Thalassemia syndromes are a heterogeneous group of single gene disorders, inherited in an autosomal recessive manner ,prevalent among all ethnic groups and in almost every country around the world .

Once a child has been diagnosed as thalassemia, he has to take lifelong treatment , where cure is not attainable and treatment may be prolonged . It is a life-threatening and life-limiting condition that affects the patient clinically and psychologically, so Health-related Quality of Life (HRQOL) is likely to be an essential outcome for these patients.

Quality of life in thalassemic children such as : Repeated visits to hospitals for regular blood transfusion, cost of chelation therapy, repeated laboratory tests for monitoring therapy and for early detection of any complications. also life-long costly therapy along with poor quality of life will have adverse impact on the family.

A better understanding of the factors associated with HRQOL among children with thalassemia could have a direct effect on the development of more suitable clinical, counselling and social support programs to enhance treatment outcomes.

Cognitive dysfunction was Reported either due to the disease or its treatment ,frequent school absences, frequent hospitalizations, and physical and social restrictions lead to cognitive dysfunction . This neurological involvement in thalassemic children is primarily silent, with subclinical manifestations that can only be detected by cognitive assessment tests.

Study Overview

• Status: Not yet recruiting
• Conditions: Thalassemia
• Intervention / Treatment: Other: Pediatric Quality of Life Inventory (questionnaire) and The Stanford-Binet Intelligence Scale fifth edition

Detailed Description

Thalassemia syndromes are a heterogeneous group of single gene disorders, inherited in an autosomal recessive manner ,prevalent among all ethnic groups and in almost every country around the world .

Thalassemias are genetic diseases characterized by a deficit in the production of hemoglobin, the protein contained in red blood cells that transports oxygen in the bloodstream. The disease is qualified as α-thalassemia or β-thalassemia depending on whether the anomaly results from a defect in the synthesis of the alpha (α) chains or beta (β) chains making up the protein.

It is the most prevalent chronic hemolytic anemia in Egypt (85.1%), the carrier rate of thalassemia in 1000 normal subjects was found to be 9-10.2% .

Once a child has been diagnosed as thalassemia, he has to take lifelong treatment , where cure is not attainable and treatment may be prolonged . It is a life-threatening and life-limiting condition that affects the patient clinically and psychologically, so Health-related Quality of Life (HRQOL) is likely to be an essential outcome for these patients.

The principles of treatment have been well defined which include (a) maintaining hemoglobin between 9 and 10 g/dl by repeated packed cell transfusion (b) regular chelation therapy to maintain serum ferritin around 1000 ng/dl (c) preventing the development of complications of the disease or secondary to therapy (d) ensuring normal growth and development . This conventional treatment is required for life-long. The main objective of thalassemia life-long treatment is to maintain good quality of life as close to near normal life. there are many Factor that can affect Quality of life in thalassemic children such as : Repeated visits to hospitals for regular blood transfusion, cost of chelation therapy, repeated laboratory tests for monitoring therapy and for early detection of any complications. also life-long costly therapy along with poor quality of life will have adverse impact on the family.

The assessment of HRQOL in children is essential for the provision of proper care, since it helps in identifying the impact of the disease and treatment on children . A better understanding of the factors associated with HRQOL among children with thalassemia could have a direct effect on the development of more suitable clinical, counselling and social support programs to enhance treatment outcomes.

Cognitive dysfunction was Reported either due to the disease or its treatment ,frequent school absences, frequent hospitalizations, and physical and social restrictions lead to cognitive dysfunction . This neurological involvement in thalassemic children is primarily silent, with subclinical manifestations that can only be detected by cognitive assessment tests.

Previous studies showed significantly different results between patients and controls regarding the intelligence quotient (IQ).

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Mena G Shawky, resident; Phone Number: 01289496538; Email: Menagergeos@med.sohag.edu.eg
• Study Contact Backup: Name: Alzahraa A Ahmed, professor

Study Locations

• Egypt
  • Sohag, Egypt, Sohag
    • Sohag University Hospital
    • Contact: Magdy M Amin, professor

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

All the diagnosed thalassemic children age between 4 and 18 years.

Description

Inclusion Criteria:

• All the diagnosed thalassemic children age between 4 and 18 years.

Exclusion Criteria:

• Any other hematological disease.
• Age less than 4 years and more than 18 years.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Children With Thalassemia (Cases); Hematological Disease which are a heterogeneous group of single gene disorders, inherited in an autosomal recessive manner ( Thalassemia Syndrome )	Other: Pediatric Quality of Life Inventory (questionnaire) and The Stanford-Binet Intelligence Scale fifth edition; Quality of Life Assessment By Pediatric Quality of life Inventory. Cognitive Function Assessment By The Stanford-Binet Intelligence Scale fifth edition.
Healthy Children ( Controls ); Healthy Children free from any chronic illness	Other: Pediatric Quality of Life Inventory (questionnaire) and The Stanford-Binet Intelligence Scale fifth edition; Quality of Life Assessment By Pediatric Quality of life Inventory. Cognitive Function Assessment By The Stanford-Binet Intelligence Scale fifth edition.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
The Stanford-Binet Intelligence Scale fifth edition	Assessment of Cognitive Function Minimum Value is 40 Maximum value is 160 Higher scores mean a better outcome	12 months
Pediatric Quality of Life Inventory	Assessment of Quality of Life Minimum value is 0 Maximum value is 100 Higher scores mean a better outcome	12 months

Collaborators and Investigators

• Sponsor: Sohag University

Publications and helpful links

General Publications

• Choudhry VP. Thalassemia Minor and Major: Current Management. Indian J Pediatr. 2017 Aug;84(8):607-611. doi: 10.1007/s12098-017-2325-1. Epub 2017 Apr 24.

Study record dates

Study Major Dates

• Study Start (Estimated): October 20, 2023
• Primary Completion (Estimated): October 20, 2024
• Study Completion (Estimated): October 20, 2024

Study Registration Dates

• First Submitted: September 13, 2023
• First Submitted That Met QC Criteria: September 25, 2023
• First Posted (Actual): September 28, 2023

Study Record Updates

• Last Update Posted (Actual): October 16, 2023
• Last Update Submitted That Met QC Criteria: October 12, 2023
• Last Verified: October 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Hematologic Diseases; Genetic Diseases, Inborn; Anemia; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Hemoglobinopathies; Thalassemia
• Other Study ID Numbers: Soh-Med-23-09-07MS

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No