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

Abstract

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. Together they account for 6% (73/1164) of all diagnosed cases of progressive intellectual and neurological deterioration. The majority (62/73) were sporadic index cases with no family history. Children of Pakistani ancestry were overrepresented in all subtypes, particularly juvenile Sandhoff disease, accounting for 10 of 11 notified cases. Infantile-onset variants predominated (55/73); the mean age at onset of symptoms was 6.2 and 4.7 months for infantile-onset Tay-Sachs and Sandhoff disease respectively, and 26.2 and 34.7 months for the corresponding juvenile-onset variants. Time to diagnosis averaged 7.4 months and 28.0 months in infantile- and juvenile-onset disease respectively.

INTERPRETATION:

GM2 gangliosidosis is a significant cause of childhood neurodegenerative disease; timely diagnosis relies upon improved clinical recognition, which may be increasingly important as specific therapies become available. There is a potential benefit from the introduction of screening programmes for high-risk ethnic groups.

• Authors: Nicholas J Smith, Anne Marie Winstone, Lesley Stellitano, Timothy M Cox, Christopher M Verity
• Journal: Developmental medicine and child neurology (Dev Med Child Neurol) Vol. 54 Issue 2 Pg. 176-82 (Feb 2012) ISSN: 1469-8749 [Electronic] England
• PMID: 22115551 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © The Authors. Developmental Medicine & Child Neurology © 2011 Mac Keith Press.

Topics

• Adolescent
• Child
• Child, Preschool
• Cohort Studies
• Community Health Planning
• Female
• Gangliosidoses, GM2 (complications, epidemiology)
• Humans
• Infant
• Male
• Neurodegenerative Diseases (complications, epidemiology)
• Pediatrics
• Retrospective Studies
• Severity of Illness Index
• United Kingdom