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.
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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)
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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
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