Diagnosis and Management of Global Development Delay: Consensus Guidelines of Growth, Development and Behavioral Pediatrics Chapter, Neurology Chapter and Neurodevelopment Pediatrics Chapter of the Indian Academy of Pediatrics

Juneja, Monica; Gupta, Aditi; Sairam, Smitha; Jain, Ritu; Sharma, Monika; Thadani, Anjana; Srinivasan, Roopa; Lingappa, Lokesh; Ahmed, Shiek S. S. J.; Multani, K S; Buch, Pankaj M; Chatterjee, Nandita; Dalwai, Samir; Kabra, Madhulika; Kapoor, Seema; Patel, Prarthana Kharod; Girisha, Katta M.; Kulkarni, Madhuri; Kunju, Pam; Malhi, Prahbhjot; Meenai, Zafar; Mishra, Devendra; Mundkur, Nandini; Nair, M. K. C.; Oommen, Samuel Philip; Prasad, Chhaya; Singh, Arun K.; Srivastava, Leena; Suman, Praveen; Thakur, Rahul Kumar

doi:10.1007/s13312-022-2522-5

Cited by 12 publications

(11 citation statements)

References 72 publications

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“…A total of 170 articles were included in the final review (alphabetically ordered based on author in Supplementary Table 2). 1,2,7–50,55,56,68–189 A PRISMA flow diagram is presented to track the process and number of studies included and excluded (Figure 1).…”

Section: Resultsmentioning

confidence: 99%

“…There was a significant focus on counselling for recurrence risk and future pregnancy. In India, genetic testing followed by genetic counselling was considered essential in ensuring caregivers are aware of the possibility that etiology may not be established despite genetic testing, to inform recurrence, as well as to help with anticipation of potential comorbidities, general management, and follow up 111 . It was suggested that counselling of caregivers should include discussion of social support and disclosure of legal provisions that might affect the families (ex.…”

Section: Resultsmentioning

confidence: 99%

“…to help with anticipation of potential comorbidities, general management, and follow up. 111 It was suggested that counselling of caregivers should include discussion of social support and disclosure of legal provisions that might affect the families (ex. The Rights of Persons with Disabilities Act 2016 in India 111 ).…”

Section: Geography and Ethnicitymentioning

confidence: 99%

“…111 It was suggested that counselling of caregivers should include discussion of social support and disclosure of legal provisions that might affect the families (ex. The Rights of Persons with Disabilities Act 2016 in India 111 ). Recurrence risk and prenatal testing for subsequent pregnancies was mentioned in studies published in Iran, 161 Japan, 134 India, 90 Canada, 163 the United Kingdom, 126 and the United States.…”

Section: Geography and Ethnicitymentioning

confidence: 99%

“…99,143 A study that focused on global developmental delay outlined the need for families to be counselled regarding anticipated comorbidities and the possibility of no diagnosis/etiology in spite of utilizing many types of genetic tests. 111…”

Section: Neurologic Disordersmentioning

confidence: 99%

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Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

Kim,

Pistawka,

Langlois

et al. 2023

Clinical Genetics

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Genetic and genomic technologies can effectively diagnose numerous genetic disorders. Patients benefit when genetic counselling accompanies genetic testing and international guidelines recommend pre‐ and post‐test genetic counselling with genome‐wide sequencing. However, there is a gap in knowledge regarding the unique genetic counselling considerations with different types of genetic testing in the Neonatal Intensive Care Unit (NICU) and the Pediatric Intensive Care Unit (PICU). This scoping review was conducted to identify the gaps in care with respect to genetic counselling for infants/pediatric patients undergoing genetic and genomic testing in NICUs and PICUs and understand areas in need of improvement in order to optimize clinical care for patients, caregivers, and healthcare providers. Five databases (MEDLINE [Ovid], Embase [Ovid], PsycINFO [Ebsco], CENTRAL [Ovid], and CINHAL [Ebsco]) and grey literature were searched. A total of 170 studies were included and used for data extraction and analysis. This scoping review includes descriptive analysis, followed by a narrative account of the extracted data. Results were divided into three groups: pre‐test, post‐test, and comprehensive (both pre‐ and post‐test) genetic counselling considerations based on indication for testing. More studies were conducted in the NICU than the PICU. Comprehensive genetic counselling was discussed in only 31% of all the included studies demonstrating the need for both pre‐test and post‐test genetic counselling for different clinical indications in addition to the need to account for different cultural aspects based on ethnicity and geographic factors.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%