The epidemiology of progressive intellectual and neurological deterioration in childhood

Verity, Christopher; Winstone, Anne Marie; Stellitano, L; Will, Robert; Nicoll, A

doi:10.1136/adc.2009.173419

Cited by 60 publications

(46 citation statements)

References 7 publications

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“…Over the past 10 years, the use of molecular genetics to corroborate clinical diagnoses has made it possible to obtain more accurate epidemiological data on the NCLs, which have been shown to have a worldwide distribution [87,88]. Moreover, some studies seem to indicate a higher-than-expected incidence in specific geographical regions [89,90]. The relative incidence of childhood forms of NCL in Italy and the phenotypic spectrum related to mutations in known NCL genes was investigated [87].…”

Section: Discussion and Concluding Remarksmentioning

confidence: 99%

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

Kohan

Pesaola

Guelbert

et al. 2015

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

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1) The study confirmed NCL disease in 122 subjects. Phenotypic studies comprised epileptic seizures and movement disorders, ophthalmology, neurophysiology, image analysis, rating scales, enzyme testing, and electron microscopy, carried out under a consensus algorithm; 2) DNA screening and validation of mutations in genes PPT1 (CLN1), TPP1 (CLN2), CLN3, CLN5, CLN6, MFSD8 (CLN7), and CLN8: characterization of variant types, novel/known mutations and polymorphisms; 3) Progress of the epidemiological picture in Latin America; and 4) NCL-like pathology studies in progress. The Translational Research Program was highly efficient in addressing the misdiagnosis/underdiagnosis in the NCL disorders. The study of "orphan diseases" in a public administrated hospital should be adopted by the health systems, as it positively impacts upon the family's quality of life, the collection of epidemiological data, and triggers research advances. This article is part of a Special Issue entitled: "Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease)".

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Section: Discussion and Concluding Remarksmentioning

confidence: 99%

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

Kohan

Pesaola

Guelbert

et al. 2015

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

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“…89 cases reported in the Bradford district compared with an average of 9 cases per UK Health District [22] . A more detailed report from the UK PIND study focused on GM2 gangliosidoses [23] , with Tay-Sachs disease, Sandhoff disease and GM2 activator protein deficiency identified in the study.…”

Section: Inborn Errors Of Metabolismmentioning

confidence: 99%

“…Since 1997, the British Paediatric Surveillance Unit has been gathering case reports on neurodegenerative disorders in a monthly survey of paediatricians. The case definition for progressive intellectual and neurological deterioration (PIND) is 'any child (below 16 years of age at onset of symptoms) who fulfils the following criteria: progressive loss of already attained intellectual or developmental abilities and development of abnormal neurological signs', with comprehensive data collated on 1,483 children meeting these diagnostic criteria [22] .…”

Section: Inborn Errors Of Metabolismmentioning

confidence: 99%

Consanguinity and Prevalence Patterns of Inherited Disease in the UK Pakistani Community

Corry

2014

Hum Hered

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Objectives: The aim of this paper is to describe the current knowledge about inherited diseases in UK children of Pakistani origin, who now number over 300,000, and to investigate disease associations with parental consanguinity. Methods: Published data on the overall prevalence of inherited diseases were reviewed in conjunction with published and unpublished information from the city of Bradford where there is a large resident Pakistani community. Results: There is significant literature on infant mortality, congenital anomalies, disabilities and many clinical conditions, often drawing attention to ethnic variations and an increased disease prevalence in UK Pakistani children. A further analysis is frequently necessary to differentiate both between genetic and non-genetic causes, and Pakistani and non-Pakistani children, who collectively have been labelled as ‘Asian' or ‘South Asian'. Conclusions: The analysis suggests that much of the increased mortality and morbidity in UK Pakistani children is due to autosomal recessive conditions. Evidence suggests that this finding is associated with the custom of consanguineous marriage, but future studies might also explore the role of community endogamy. Prevalence data from the first and second post-migration generations could additionally be useful in informing health planning in Pakistan.

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“…UKOSS was based on the model developed by the British Paediatric Surveillance Unit (BPSU), 21 and the BPSU has been successfully used to conduct studies of emerging infections in the paediatric population, an example being new variant Creutzfeldt-Jakob disease. 22 A new system has recently been set up, covering early pregnancy units -the UK Early Pregnancy Surveillance Service 23 -and this would be a possible route to obtaining information about severe pregnancy complications as a result of infection in the first trimester. Other systems exist in other specialty areas, for example ophthalmology, 24 paediatric surgery 25 and neurology, 26 all of which could be used to investigate emerging public health threats on a rapid basis.…”

Section: Chapter 4 Discussionmentioning

confidence: 99%

Planning for a cohort study to investigate the impact and management of influenza in pregnancy in a future pandemic

Knight

Brocklehurst

O’Brien

et al. 2015

Health Services and Delivery Research

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BackgroundEvidence from the 2009 A/H1N1 influenza pandemic demonstrated that pregnant women are particularly vulnerable to infection and at an increased risk of death. Active data collection through the UK Obstetric Surveillance System (UKOSS) about women admitted to hospital during the 2009 A/H1N1 pandemic was used to inform ongoing clinical guidance regarding the use of antiviral treatment for pregnant women and demonstrated that, in addition to an increased risk of maternal morbidity, influenza infection in pregnancy is associated with poor perinatal outcomes, including an increased risk of stillbirth and preterm birth. This evidence influenced the decision to offer routine influenza immunisation to pregnant women. Even in a non-epidemic period, pregnant women continue to die from influenza.ObjectiveTo establish, and then to put into hibernation, the study mechanisms needed to mount a rapid investigation of the impact of pandemic influenza in pregnancy in the event of a newly emerging pandemic strain.DesignA new UKOSS cohort study was designed, based on the 2009–10 study, and following consultation with the Pandemic Flu Planning Group at the Royal College of Obstetricians and Gynaecologists and the UKOSS Steering Committee, to identify potential previously unanswered questions.SettingUK maternity units.ParticipantsAll pregnant women admitted to hospital with influenza in a future pandemic.Main outcome measuresManagement of pregnant women with influenza infection, intervention rates, treatment and pregnancy outcome for both the mother and fetus.ResultsThe study was designed and approved by the UKOSS Steering Committee and then placed into hibernation for activation in the event of an influenza pandemic.ConclusionsPregnant women, as a result of their changed immunological status, appear to be particularly susceptible to infection, including from influenza. The existence of the UKOSS enabled us to rapidly mount a study of pregnant women who were hospitalised with 2009 A/H1N1 influenza. Minor modifications to incorporate previously unanswered questions and our previous study enabled us to design, and then put into hibernation, a new study ready to investigate the impact and management of influenza in pregnancy, which is poised for activation in the event of a newly emerging pandemic strain. This will enable real-time data to be available on which to base rapid changes in clinical management as the as-yet-unforeseen pandemic unfolds. In the event of an influenza pandemic the study will be available to be immediately activated following expedited regulatory approvals.Trial registrationCurrent Controlled Trials ISRCTN44137563.FundingThe National Institute for Health Research Health Services and Delivery Research programme.

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The epidemiology of progressive intellectual and neurological deterioration in childhood

Cited by 60 publications

References 7 publications

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

Consanguinity and Prevalence Patterns of Inherited Disease in the UK Pakistani Community

Planning for a cohort study to investigate the impact and management of influenza in pregnancy in a future pandemic

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