Abstract
AimTo report the differential diagnosis in children with progressive intellectual and neurological deterioration (PIND) in the UK.MethodSince 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.ResultsFrom May 1997 to October 2019, 2255 children meeting PIND criteria had been notified, of whom 2008 (1085 males, 923 females) had underlying diagnoses. There were over 220 different diseases, including six cases of vCJD. The numbers presenting in four age groups were: <1 year, 805 (40%); 1 to 4 years inclusive, 825 (41%); 5 to 9 years inclusive, 264 (13%); and 10 to 15 years inclusive, 114 (6%). The two largest ethnic groups were White and Pakistani (58.2% and 17% of diagnosed cases). The most common diseases in these two ethnic groups are shown for the four age groups. The distribution of diseases varied with age but was quite similar in White and Pakistani children.InterpretationThis paper provides a unique guide to the complex differential diagnosis of childhood PIND, showing considerable differences between four age groups, but similarities between ethnic groups. The PIND Study still provides the only systematic surveillance for vCJD in children in the UK.What this paper adds The prevalence of diseases causing childhood progressive intellectual and neurological deterioration in the UK is low (approximately 0.1/1000 live births).There were more than 220 different disorders, mainly genetically determined.The majority of disorders presented early in childhood: 81% before the age of 5 years.There were similarities in the disease spectrum in White and Pakistani children.
Highlights
INTERPRETATION This paper provides a unique guide to the complex differential diagnosis of childhood progressive intellectual and neurological deterioration (PIND), showing considerable differences between four age groups, but similarities between ethnic groups
Between May 1997 and October 2019, 4612 children had been notified to the PIND Study
If ante-mortem brain biopsies or post-mortem studies of brain tissue were always performed in children with undiagnosed neurodegenerative diseases, variant Creutzfeldt-Jakob disease (vCJD) would be detected and there would be no need for the PIND Study
Summary
The aim of this paper is to help paediatricians by providing unique data about the age-related differential diagnosis in children presenting with PIND
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