Congenital disorders: epidemiological methods for answering calls for action

Modell, Bernadette; Darlison, Matthew; Malherbe, Helen; Moorthie, Sowmiya; Blencowe, Hannah; Mahaini, Ramez; El‐Adawy, Maha

doi:10.1007/s12687-018-0390-4

Cited by 25 publications

(34 citation statements)

References 13 publications

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“…While the past healthcare efforts were focused on reducing mortality due to congenital disorders, there is a need to shift focus to the needs of survivors with disability, to access disability services and to improve quality of life, education, and job opportunities (Darmstadt, et al, ). MGDb estimated there were more than two million survivors with significant disability at 5 years, globally and confirmed interventions could both reduce adverse outcomes of constitutional congenital disorders by 50–80% as well as the birth prevalence of environmental congenital disorders to a very low level (Modell et al, ).…”

Section: Congenital Disorders: the Need For Common Definition And Accmentioning

confidence: 97%

“…The first group consisted of congenital disorders due to environmental exposure to teratogens. The second group was constitutional congenital disorders due to various endogenous causes such as chromosomal disorders, single gene disorders, and disorders due to genetic risk factors (Modell et al, ). Earlier publications found there was lack of accurate information on the number of children born with a serious congenital disorder and the collection of data on the global burden of mortality and morbidity due to congenital disorders was recommended (Christianson, Howson, & Modell, ).…”

Section: Congenital Disorders: the Need For Common Definition And Accmentioning

confidence: 99%

“…Analysis showed that the major cause of the difference was due to the lack of agreed technical terminology for reporting. (Liu et al, ; Modell et al, ).…”

Section: Congenital Disorders: the Need For Common Definition And Accmentioning

confidence: 99%

“…To standardize the terminology and definitions, it is worthwhile to note that The March of Dimes and the WHO Human Genetics Programme had reached an understanding on the use of “birth defects” and “congenital disorder.” As mentioned earlier, the WHO burden of disease unit uses “congenital anomalies” that was defined as macroscopic morphological anomalies present from birth which excluded functional birth defects, disability, common single gene disorders such as cystic fibrosis, and glucose‐6‐phosphate dehydrogenase deficiency and inborn errors of metabolism. It was hoped that future reports on Global Burden of Disease will take this into account (Modell et al, ).…”

Section: Congenital Disorders Registry: Providing Timely Epidemiologimentioning

confidence: 99%

See 3 more Smart Citations

Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions

Thong

2019

American J of Med Genetics Pt C

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which included a set of 17 measurable "sustainable development goals" (SDGs).The SDGs included targets to end preventable deaths of newborns and children under 5 years of age by 2030, universal health care coverage, reduction of premature mortality from noncommunicable diseases (NCDs) by 33% as well as support the development and research for medicines for both communicable and NCDs. Although some successes were achieved in combating communicable diseases and improved childhood mortality rates, health systems in Asia are generally characterized by lack of accurate epidemiological information on congenital disorders, lack of human and financial resources, and inadequate focus on public health strategies to ensure targeted interventions, low level knowledge on congenital disorders amongst the community and healthcare providers and the ethical dilemma of managing rare congenital disorders in an environment of low national health expenditures. These bottlenecks must be addressed systematically and interventions such as the use of innovative epidemiological tools to overcome lack of data, increased efforts to standardize rare disease nomenclature and classification and renewed interest in birth defects registries by countries in the region must be considered. Targeted curative and public health approaches currently used in thalassaemia and neural tube defects may be used for other congenital disorders in Asian countries. The implementation of congenital disorders-related research, prevention, care, and treatment delivery services must be integrated into existing health systems in order to be effective to achieve the targets of SDG2030.

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Section: Congenital Disorders: the Need For Common Definition And Accmentioning

confidence: 97%

Section: Congenital Disorders: the Need For Common Definition And Accmentioning

confidence: 99%

“…Analysis showed that the major cause of the difference was due to the lack of agreed technical terminology for reporting. (Liu et al, ; Modell et al, ).…”

Section: Congenital Disorders: the Need For Common Definition And Accmentioning

confidence: 99%

Section: Congenital Disorders Registry: Providing Timely Epidemiologimentioning

confidence: 99%

See 2 more Smart Citations

Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions

Thong

2019

American J of Med Genetics Pt C

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“…Estimates of the global prevalence of NTDs using available data tend to result in underestimation of their true prevalence. Lack of robust country‐specific birth defects surveillance data, especially in developing countries, limits our ability to estimate the global prevalence of NTDs (Modell et al, ). This leads to alternative methods, such as application of statistical models, to estimate prevalence.…”

mentioning

confidence: 99%

Teratology society position statement on surveillance and prevalence estimation of neural tube defects

Kancherla

Carmichael

Feldkamp

et al. 2018

Birth Defects Research

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Can the genes communicate with each other after birth? An international cross‐sectional study

Hashim

Nazir

et al. 2023

Health Science Reports

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Background Various factors contribute to the pathogenesis of a disease. These include genetic factors, family history, and some idiopathic causes. Genetic makeup has an important role in the progression of disease. This is due to mutations in genetic material, that is, deoxyribonucleic acid (DNA). Methodology This is a cross‐sectional study that involved 5000 participants distributed across 250 countries. All the participants were randomly selected and asked to fill out the online survey. All the participants were fully informed about the study's purpose before providing their consent. Results The participants were distributed among 250 countries. Their age mean (standard deviation) is 46.7 (12.4). We discovered a significant difference between those who have genetic or congenital diseases and those who have a family history of the disease. Also, there is a statistically significant difference between the recurrence of the disease and the duration of the visits of close relatives who have the same disease. Conclusion The study suggests that there might be some ways, through gene waves or the environment, in which a gene changes the expression of other genes of similar sequence in different individuals when the required period of contact is provided. In the future, this theory might explain the idiopathic nature of some diseases.

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Congenital disorders: epidemiological methods for answering calls for action

Cited by 25 publications

References 13 publications

Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions

Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions

Teratology society position statement on surveillance and prevalence estimation of neural tube defects

Can the genes communicate with each other after birth? An international cross‐sectional study

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