Hydrocephalus in children

Kahle, Kristopher T.; Kulkarni, Abhaya V.; Limbrick, David D.; Warf, Benjamin C.

doi:10.1016/s0140-6736(15)60694-8

Cited by 521 publications

(447 citation statements)

References 132 publications

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“…Inflammatory septa and membranes in the aqueduct [1] and neurocysticercosis [27] are some of the most common causes. In particular, membranes and septa can be evaluated particularly effectively in high-resolution T2w sequences.…”

Section: Aqueductmentioning

confidence: 99%

“…Hydrocephalus is a common symptom that can have a number of causes [1,2]. However, if the symptom is not treated, hydrocephalus can develop into an independent disease that remains even after treatment of the cause and may require ongoing treatment.…”

Section: Introductionmentioning

confidence: 99%

“…Since the remaining intracranial tissue stays constant, there is an increase in intracranial pressure. This then results in transependymal CSF extravasation from the ventricular system into the brain parenchyma, leading to brain damage with corresponding symptoms [4] and to pressure-induced atrophy in the case of persistence of the disease [1]. A special form of hydrocephalus is known as "idiopathic normal pressure hydrocephalus".…”

Section: Introductionmentioning

confidence: 99%

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Diagnosis and Differential Diagnosis of Hydrocephalus in Adults

Langner

Fleck

Baldauf

et al. 2017

Fortschr Röntgenstr

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ABSTR AC TPurpose Hydrocephalus is caused by an imbalance of production and absorption of cerebrospinal fluid (CSF) or obstruction of its pathways, resulting in ventricular dilatation and increased intracranial pressure. Imaging plays a crucial role in the diagnosis, differential diagnosis and planning of treatment.Methods This review article presents the different types of hydrocephalus und their typical imaging appearance, describes imaging techniques, and discusses differential diagnoses of the different forms of hydrocephalus. Results and Conclusion

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Section: Aqueductmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Diagnosis and Differential Diagnosis of Hydrocephalus in Adults

Langner

Fleck

Baldauf

et al. 2017

Fortschr Röntgenstr

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“…This occurs when there is an imbalance between the rate of production of CSF and the rate at which it is absorbed [1]. This results in cerebral ventricles enlargement, presenting with increased intracranial pressure signs and symptoms. …”

mentioning

confidence: 99%

“…In many children, cognitive dysfunction can be subtle and difficult to pick up. This includes impairment in overall intelligence, verbal intelligent quotient (IQ), spatial navigation, executive functioning, learning, memory and/or processing information [1,[16][17][18][19][20].A review by Kulkarni in 2010 stated that only 20% of children with hydrocephalus would lead a near-normal quality of life [21]. Otherwise, majority of children with hydrocephalus often suffered from various symptoms and signs affecting their quality of life.…”

mentioning

confidence: 99%

Will electronic integrated text, visual and audio questionnaire be a better tool to evaluate the health status of paediatric hydrocephalus patients?

Tan¹,

Caird²,

Cooper³

2017

Ment Health Addict Res

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Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus

Greenberg,

Mehta,

Allington

et al. 2023

JAMA Netw Open

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ImportanceExome sequencing (ES) has been established as the preferred first line of diagnostic testing for certain neurodevelopmental disorders, such as global developmental delay and autism spectrum disorder; however, current recommendations are not specific to or inclusive of congenital hydrocephalus (CH).ObjectiveTo determine the diagnostic yield of ES in CH and whether ES should be considered as a first line diagnostic test for CHData SourcesPubMed, Cochrane Library, and Google Scholar were used to identify studies published in English between January 1, 2010, and April 10, 2023. The following search terms were used to identify studies: congenital hydrocephalus, ventriculomegaly, cerebral ventriculomegaly, primary ventriculomegaly, fetal ventriculomegaly, prenatal ventriculomegaly, molecular analysis, genetic cause, genetic etiology, genetic testing, exome sequencing, whole exome sequencing, genome sequencing, microarray, microarray analysis, and copy number variants.Study SelectionEligible studies included those with at least 10 probands with the defining feature of CH and/or severe cerebral ventriculomegaly that had undergone ES. Studies with fewer than 10 probands, studies of mild or moderate ventriculomegaly, and studies using genetic tests other than ES were excluded. A full-text review of 68 studies was conducted by 2 reviewers. Discrepancies were resolved by consensus.Data Extraction and SynthesisPreferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and Meta-Analysis of Observational Studies in Epidemiology guidelines were used by 2 reviewers to extract data. Data were synthesized using a random-effects model of single proportions. Data analysis occurred in April 2023.Main Outcomes and MeasuresThe primary outcome was pooled diagnostic yield. Additional diagnostic yields were estimated for specific subgroups on the basis of clinical features, syndromic presentation, and parental consanguinity. For each outcome, a 95% CI and estimate of interstudy heterogeneity (I2 statistic) was reported.ResultsFrom 498 deduplicated and screened records, 9 studies with a total of 538 CH probands were selected for final inclusion. The overall diagnostic yield was 37.9% (95% CI, 20.0%-57.4%; I2 = 90.1). The yield was lower for isolated and/or nonsyndromic cases (21.3%; 95% CI, 12.8%-31.0%; I2 = 55.7). The yield was higher for probands with reported consanguinity (76.3%; 95% CI, 65.1%-86.1%; I2 = 0) than those without (16.2%; 95% CI, 12.2%-20.5%; I2 = 0).Conclusions and RelevanceIn this systematic review and meta-analysis of the diagnostic yield of ES in CH, the diagnostic yield was concordant with that of previous recommendations for other neurodevelopmental disorders, suggesting that ES should also be recommended as a routine diagnostic adjunct for patients with CH.

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Hydrocephalus in children

Cited by 521 publications

References 132 publications

Diagnosis and Differential Diagnosis of Hydrocephalus in Adults

Diagnosis and Differential Diagnosis of Hydrocephalus in Adults

Will electronic integrated text, visual and audio questionnaire be a better tool to evaluate the health status of paediatric hydrocephalus patients?

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus

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