Fetal alcohol syndrome in the UK.

Objective: To determine the incidence of fetal alcohol syndrome (FAS) in the UK in children aged 0-16 years.

Design: Active surveillance was undertaken through the British Paediatric Surveillance Unit between October 2018 and October 2019 inclusive. Data were collected from reporting clinicians using standardised questionnaires.

A Re-emergence of Subacute Sclerosing Panencephalitis in the United Kingdom.

New pediatric and adult subacute sclerosing panencephalitis cases between 1996 and 2020 were reported based on an established UK registry with no evidence of under-ascertainment using a separate pediatric surveillance system. After 15 years with no pediatric UK-acquired cases, 3 cases arose from 2017 after increased measles. Modeling suggested this was in line with measles notifications, underreporting of laboratory-confirmed measles or increased subacute sclerosing panencephalitis risk.

Differential diagnosis of progressive intellectual and neurological deterioration in children.

Aim: To report the differential diagnosis in children with progressive intellectual and neurological deterioration (PIND) in the UK.

Method: Since 1997 the PIND Study has searched for variant Creutzfeldt-Jakob disease (vCJD) in children, using the British Paediatric Surveillance Unit to perform prospective surveillance of those younger than 16 years with PIND.

Results: From May 1997 to October 2019, 2255 children meeting PIND criteria had been notified, of whom 2008 (1085 males, 923 females) had underlying diagnoses.

Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies?

Objectives: To report investigations performed in children with progressive neurodegenerative diseases reported to this UK study.

Design: Since 1997 paediatric surveillance for variant Creutzfeldt-Jakob disease (vCJD) has been performed by identifying children aged less than 16 years with progressive intellectual and neurological deterioration (PIND) and searching for vCJD among them.

Setting: The PIND Study obtains case details from paediatricians who notify via the British Paediatric Surveillance Unit.

Niemann-Pick type C as a cause of progressive intellectual and neurological deterioration in childhood.

Aim: To describe the cases of Niemann-Pick type C (NP-C) disease in a United Kingdom epidemiological study of progressive intellectual and neurological deterioration in childhood.

Method: Paediatricians notified cases via the British Paediatric Surveillance Unit between 1997 and 2015.

Results: Fifty-three NP-C patients were identified: 29 females, 24 males.

Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study.

Aim: To report on the epidemiology of the brain white matter disorders of children identified via a national prospective study.

Method: Since 1997 a study of UK children with progressive intellectual and neurological deterioration (PIND) has used the British Paediatric Surveillance Unit system to identify children with progressive neurodegenerative disease. This paper reports on children in the study with brain white matter disorders.

Clinical features of narcolepsy in children vaccinated with AS03 adjuvanted pandemic A/H1N1 2009 influenza vaccine in England.

Aim: The aim of this study was to investigate whether children in England with narcolepsy who received the ASO3 adjuvanted pandemic A/H1N1 2009 influenza vaccine (Pandemrix) differed clinically from unvaccinated patients.

Method: A retrospective review was conducted in children with narcolepsy diagnosed by sleep centres and paediatric neurologists in 16 English hospitals. The inclusion criteria were patient age 4 to 18 years, onset of narcolepsy after January 2008, and diagnosis by the time of the key data-gathering visit in 2011.

Risk of narcolepsy in children and young people receiving AS03 adjuvanted pandemic A/H1N1 2009 influenza vaccine: retrospective analysis.

Objective: To evaluate the risk of narcolepsy in children and adolescents in England targeted for vaccination with ASO3 adjuvanted pandemic A/H1N1 2009 vaccine (Pandemrix) from October 2009.

Design: Retrospective analysis. Clinical information and results of sleep tests were extracted from hospital notes between August 2011 and February 2012 and reviewed by an expert panel to confirm the diagnosis.

GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed.

Aim: To report the demographic, phenotypic, and time-to-diagnosis characteristics of children with GM2 gangliosidosis referred to the UK study of Progressive Intellectual and Neurological Deterioration.

Method: Case notification is made via monthly surveillance card, administered by the British Paediatric Surveillance Unit to all UK-based paediatricians; children with GM2 gangliosidosis were identified from cases satisfying inclusion in the UK study of Progressive Intellectual and Neurological Deterioration and analysed according to phenotypic and biochemical categories.

Results: Between May 1997 and January 2010, 73 individuals with GM2 gangliosidoses were reported: 40 with Tay-Sachs disease, 31 with Sandhoff disease, and two with GM2 activator protein deficiency.

The epidemiology of progressive intellectual and neurological deterioration in childhood.

Objective: To study the epidemiology of diseases that cause progressive intellectual and neurological deterioration (PIND) in UK children.

Design: Since May 1997, the authors have performed active surveillance to search for variant Creutzfeldt-Jakob Disease (vCJD) among the many diseases that cause neurological deterioration in children, using the monthly surveillance card sent to all UK consultant paediatricians by the British Paediatric Surveillance Unit. The authors obtain clinical details from reporting paediatricians by questionnaire or site visit, and an Expert Group then independently classifies the cases.

The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study.

Aim: Our aim was to study the clinical presentation, mode of diagnosis, and epidemiology of mitochondrial disorders in children from the UK who have progressive intellectual and neurological deterioration (PIND).

Method: Since April 1997, we have identified patients aged 16 years or younger with suspected PIND through the monthly notification card sent to all UK consultant paediatricians by the British Paediatric Surveillance Unit. Clinical details obtained from reporting paediatricians are classified by an Expert Group.

Is there evidence of vertical transmission of variant Creutzfeldt-Jakob disease?

Objectives: The possibility of vertical transmission of variant Creutzfeldt-Jakob disease (vCJD) has been raised because of the widespread distribution of infectivity in vCJD and the demonstration that this condition can be transmitted through blood transfusion. The aim of this study is to search for evidence of this type of transmission of vCJD.

Methods: A national surveillance system for CJD has been established in the UK since 1990.