RANK/RANKL/OPG axis genes relation to cognitive impairment in children with transfusion-dependent thalassemia: a cross-sectional study

Mousa, Suzan Omar; El-Hafez, Asmaa Hosni Abd; El-ela, Mostafa Ahmed Abu; Mourad, M.; Saleh, Rasha Nady; Sayed, Samira Zain

doi:10.1186/s12887-022-03479-9

Cited by 4 publications

(3 citation statements)

References 42 publications

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“…Metafratzi et al reported higher iron deposition in the caudate nucleus, putamen, and temporal and motor cortex of patients with βTM [16] . Other risk factors indirectly related to the disease include repeated school absences to attend hospital appointments, the psychic adverse effects of chronic illness, the restrictions implemented on the physical and social development of children, and the overly protective family attitude that impairs the psychosocial development of thalassemic children [7,8,10,17,18] . The cognitive functions of thalassemic children have been previously assessed by different scores such as the WISC-III [7][8][9][10][11][12] , computerized Wisconsin's card sorting test (WCST) [17] , and Stanford Binet fourth edition Scales [18] .…”

Section: Discussionmentioning

confidence: 99%

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Cognitive Function Assessment in Paediatric Patients with Beta-Thalassemia Major

Elbahy¹,

Ayad²,

Elsayed³

et al. 2023

The Egyptian Journal of Hospital Medicine

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Background: Multiple risk factors in Beta-thalassemia major (βTM) children contribute to the impairment of their neurocognitive function. Multiple studies used different intelligence quotient (IQ) scores to assess the neurocognitive function in thalassaemic children, however, results were variable.Objective: This study aimed to assess the cognitive functions of thalassemic children and to compare them to a wellmatched group of healthy controls using the Fourth Edition of the Wechsler Intelligence Scale for Children (WISC-IV). Subjects and Methods: A cross-sectional study recruited two groups; Group I included 50 children diagnosed with βTM on regular blood transfusions. Group II included 50 healthy control children with no underlying chronic illness, matching the patients' age, sex, education, parent's education, school performance, and socioeconomic level. A detailed history was taken, and clinical examination was performed; also, laboratory investigations including full blood picture and serum ferritin were done. Neurocognitive functions were assessed using WISC-IV. Results: βTM children had significantly lower IQ scores on cognitive function assessment than healthy children, including the mean of the Full-Scale Intelligence Quotient, as well as the mean scores of the Verbal Comprehension Index, the Processing Speed Index, the Perceptual Reasoning Index, and the Working Memory Index (P<0.01). There was no correlation between IQ scores and the age at the onset of disease, transfusion frequency per year, serum ferritin, onset and duration of chelation, type of chelation, parents' education, and socioeconomic status. However, IQ scores were positively correlated with pretransfusion Hb, school performance, education, and anthropometric measurements. Conclusion:We concluded that βTM children have significantly lower IQ scores than healthy children, and this requires attention for neuropsychological assessment of thalassemic children early in life to provide adequate support.

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Section: Discussionmentioning

confidence: 99%

“…Multiple studies have been performed to assess cognitive functions in thalassemic children using WISC-III. These studies showed significantly different results between patients and controls regarding the subsets of intelligence quotient (IQ) [7][8][9][10][11][12] .…”

Section: Introductionmentioning

confidence: 99%

Cognitive Function Assessment in Paediatric Patients with Beta-Thalassemia Major

Elbahy¹,

Ayad²,

Elsayed³

et al. 2023

The Egyptian Journal of Hospital Medicine

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“…We found that the OPG/RANK/RANKL axis is linked to cognitive impairment in children with transfusion-dependent thalassemia (TDT) 16 .…”

Section: Introductionmentioning

confidence: 99%

OPG/RANK/RANKL axis relation to cardiac iron-overload in children with transfusion-dependent thalassemia

Sayed

El-Hafez

El-ela

et al. 2023

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OPG/RANK/RANKL axis was reportedly involved in initiating various diseases, especially bone and cardiovascular diseases. This study aimed to assess the relationship between some OPG, RANK, and RANKL polymorphisms and alleles and iron-overload-induced cardiomyopathy in children with transfusion-dependent thalassemia (TDT). This study included 80 TDT children and 80 age and sex-matched controls. Real-time PCR was done for rs207318 polymorphism for the OPG gene and rs1805034, rs1245811, and rs75404003 polymorphisms for the RANK gene, and rs9594782 and rs2277438 polymorphisms for the RANKL gene. Cardiac T2* MRI and ejection fraction (EF) were done to assess the myocardial iron status and cardiac function. In this study, there were no significant differences in frequencies of the studied polymorphisms between cases and controls (p > 0.05 in all). In TDT children, OPG rs2073618 (G > C) had a significant relation to myocardial iron overload (p = 0.02). Its C allele had significantly more frequent normal EF than its G allele (p = 0.04). RANK rs75404403 (C > DEL) had a significant relation to cardiac dysfunction (p = 0.02). Moreover, the C allele of that gene had significantly more frequent affected EF than its DEL allele (p = 0.02). The A allele of RANKL rs2277438 (G > A) had significantly less frequent severe cardiac iron overload than the G allele (p = 0.04). In conclusion, the OPG/ RANK/RANKL genes may act as genetic markers for iron-induced cardiomyopathy in TDT children. Some of the studied genes’ polymorphisms and alleles were significantly related to myocardial iron overload and cardiac dysfunction in TDT children.

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Cognitive impairment in beta thalassemia major and intermedia pediatric patients: a cross-sectional study

Elderini,

ELTohamy,

EL-Tagui

et al. 2023

Egypt J Med Hum Genet

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Background Thalassemia is a commonly occurring genetic hemoglobinopathy worldwide. Periodic and routine blood transfusions, iron chelation therapy and splenectomy procedures are all required for the treatment of thalassemia. Numerous organs and bodily systems could be impacted by thalassemia, particularly the nervous system, which could impede cognitive performance. The study aimed to assess cognitive abilities of pediatric patients diagnosed with beta thalassemia major and intermedia. Patients and methods A total of 168 participants [54 β-thalassemic major children, 51 with β-thalassemia intermedia and 63 age-matched healthy controls from both genders (85 girls and 83 boys)] with age ranging from 8 to 16 years were participated in a cross-sectional study. Cognitive function was evaluated for all children by using the Wechsler Intelligence Scale For Children 4th edition. Results Compared with control group, a significant decline was found in all Wechsler Intelligence Scale subtests as well as in verbal comprehension index, perceptual reasoning index, working memory index, processing speed index and full scale index scores of thalassemia major and intermedia patients (p < 0.001). When compared to children with thalassemia intermedia, the beta thalassemic major children showed a significant decrease in all Wechsler Scale subtests as well as in all its five index scores (p < 0.001). Conclusions The study concluded that thalassemia negatively affects and impairs cognition and intellectual capacities.

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RANK/RANKL/OPG axis genes relation to cognitive impairment in children with transfusion-dependent thalassemia: a cross-sectional study

Cited by 4 publications

References 42 publications

Cognitive Function Assessment in Paediatric Patients with Beta-Thalassemia Major

Cognitive Function Assessment in Paediatric Patients with Beta-Thalassemia Major

OPG/RANK/RANKL axis relation to cardiac iron-overload in children with transfusion-dependent thalassemia

Cognitive impairment in beta thalassemia major and intermedia pediatric patients: a cross-sectional study

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