Fifteen-minute consultation: Efficient investigation of the child with early developmental impairment in the era of genomic sequencing

Coysh, Thomas; Hogg, Sarah; Parker, Alasdair

doi:10.1136/archdischild-2018-315123

Cited by 2 publications

(2 citation statements)

References 16 publications

(20 reference statements)

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“…Instead, microarray became yet another investigation in a long list of investigations. This is the recommendation in published guidelines, [ 3 , 19 – 21 ] suggesting our local experience is not unique. Secondly, our data suggests interviewees may perform additional tests, either because they are performing venesection to obtain DNA and wish to reduce trauma to the child and inconvenience to the family, or because they wish to arrange a general health screen for other modifiable health factors.…”

Section: Discussionmentioning

confidence: 53%

How paediatricians investigate early developmental impairment in the UK: a qualitative descriptive study

Atherton

Hart

2022

BMC Pediatr

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Background Early developmental impairment (EDI) is common and has many aetiologies and, therefore, potential investigations. There are several published guidelines recommending aetiological investigations, and paediatricians’ views of them varies. Little is known on the thought processes underlying clinical decisions in investigating EDI. This study aimed to describe the thought processes affecting clinical decisions on the investigation of EDI within a nationalised health care system. Methods A qualitative descriptive study using semi-structured qualitative interviews performed in person or via video link with paediatricians who see children with EDI in England. As part of the interview, a case study of a fictional disease, Cavorite deficiency, modelled on biotinidase deficiency, was given to participants with the cost of testing, incidence and likelihood it would respond to treatment. This allowed exploration of cost without encumbrance from predisposing views and training on the condition. Thematic analysis was performed by iterative approach. Where participants stated they wanted to redirect money from investigations to treatment, were that even possible, we asked which services they would like to be better funded in their area. Results Interviews were conducted with 14 consultant paediatricians: 9 Community / Neurodisability, 2 General paediatricians, and 3 Paediatric Neurologists. Two themes were identified: the value of an aetiological diagnosis to families and managing risk and probability when investigating EDI. The latter contained 4 subthemes: ‘circumspection’ involved blanket investigations chosen irrespective of phenotype and high regard for guidelines; ‘accepting appropriate risk’ involved participants choosing investigations based on clinical phenotype, recognising some aetiologies would be missed; consultants found they ‘transitioned between practices’ during their career; and ‘improved practice’ was thought possible with better evidence on how to stratify investigations based on phenotype. Services that were most frequently reported to need additional funding were therapy services, early community developmental services, management of behaviour, sleep and mental health, and educational support. Conclusions There are many factors that influence paediatricians’ choice of aetiological investigation in EDI, but clinical factors are the most important. Paediatricians want better evidence to allow them to select the right investigations for each child without a significant risk of missing an important diagnosis.

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Section: Discussionmentioning

confidence: 53%

How paediatricians investigate early developmental impairment in the UK: a qualitative descriptive study

Atherton

Hart

2022

BMC Pediatr

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“…Most of the cases were de novo dominant variants and is likely similar in other populations. The use of gene panels for epilepsy increases the likelihood of correct diagnosis ( 4 , 10 , 31 ). The rate of diagnosis using targeted sequencing of a single gene was 15.4%; this rate increased to 46.2% using specialized genetic panels—a cost-effective alternative to Sanger sequencing ( 4 , 8 , 9 , 29 , 32 ).…”

Section: Discussionmentioning

confidence: 99%

Genomic Investigation of Infantile and Childhood Epileptic Encephalopathies in Kazakhstan: An Urgent Priority

et al. 2021

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Objectives: Infantile and childhood epileptic encephalopathies are a group of severe epilepsies that begin within the first year of life and often portend increased morbidity. Many of them are genetically determined. The medical strategy for their management depends on the genetic cause. There are no facilities for genetic testing of children in Kazakhstan but we have a collection of data with already defined genes responsible for clinical presentations.Methods: We analyzed children with epileptic encephalopathies that began in the first 3 years of life and were accompanied by a delay/arrest of intellectual development, in the absence of structural changes in the brain. Such patients were recommended to undergo genetic testing using epileptic genetic panels in laboratories in different countries.Results: We observed 350 infants with clinical presentation of epileptic encephalopathies. 4.3% of them followed our recommendations and underwent genetic testing privately. In total 12/15 children became eligible for targeted treatment, 3/15 were likely to have non-epileptic stereotypies/movements, 2/15 were unlikely to respond to any therapy and all had a high chance of intellectual disability, behavioral and social communication disorders.Conclusion: The genetic results of 15/350 (4.3% of patients) have demonstrated the potential and enormous impact from gene panel analysis in management of epileptic encephalopathy. Availability of genetic testing within the country will improve management of children with genetic epilepsies and help to create a local database of pathogenic variants.

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Fifteen-minute consultation: Efficient investigation of the child with early developmental impairment in the era of genomic sequencing

Cited by 2 publications

References 16 publications

How paediatricians investigate early developmental impairment in the UK: a qualitative descriptive study

How paediatricians investigate early developmental impairment in the UK: a qualitative descriptive study

Genomic Investigation of Infantile and Childhood Epileptic Encephalopathies in Kazakhstan: An Urgent Priority

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