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• W1964317174 abstract "Verity et al.1 describe 2493 patients with progressive intellectual and neurological deterioration (PIND) identified over 11 years. An expert panel determined a diagnosis in 1047 patients. Overall, 112 (4.5%) had an underlying mitochondrial disease, and 40 of these had died, giving an overall point prevalence for children with PIND and mitochondrial disease of 0.62 per 100 000 of the paediatric population. This figure includes patients with pyruvate dehydrogenase deficiency who are not always included in mitochondrial disease prevalence studies. Childhood mitochondrial disease prevalence has been estimated at 3 to 6.2 per 100 000 with a point prevalence in Sweden of mitochondrial encephalomyopathies in children of 4.8 per 100 000.2 Verity et al. explain their low prevalence in terms of under-ascertainment and that not all patients with mitochondrial disease experience PIND. Also, patients were investigated in a number of centres and not necessarily in a uniform or systematic manner and Verity et al. do not state how many patients with PIND were investigated for mitochondrial disease. Any study of the prevalence of mitochondrial disease is likely to be an underestimate as there is no screening test with high sensitivity and definitive diagnostic tests are not readily available for many potential disorders, notably deficiencies of complex V and many nuclear DNA mutations. The majority of children with mitochondrial disease present with or exhibit neurological manifestations. In a childhood mitochondrial disease population in the US, 60% presented with neuromuscular features and 40% with cardiac features although 20% of the cardiac group also had developmental delay.3 Two studies examined intellectual and neurological deterioration in children presenting with mitochondrial encephalomyopathies and found progressive deterioration in 58 to 60%.4, 5 Combining these figures, admittedly from different populations, the prevalence of mitochondrial disease and PIND would be expected to be 1 to 2.5 per 100 000. In a defined Finnish paediatric population, Uusimaa et al. found 15% of patients with encephalomyopathy or myopathy had a probable mitochondrial disease.6 Not all would show progressive deterioration. In those who had mitochondrial DNA (mtDNA) sequenced, 18% (mtDNA) had mtDNA mutations, whereas Verity et al. found DNA mutations in 70% of those examined, 60% of these in mtDNA, mostly in the ATPase 6 gene. All the mtDNA mutations in the Finnish study were in mitochondrial RNA genes. Verity et al. found 10 children (20% of those tested or 9% of the mitochondrial PIND group overall) with mutations in the SURF1 gene whereas in a Swedish study of Leigh disease, no patient had SURF1 mutations.7 Ethnicity is a significant variable in molecular analysis of mitochondrial disease. Verity et al. examined the link between PIND, mitochondrial disease, vaccination, and autism. This association is particularly topical because of a 19-month-old female in the US, described in the literature by her father.8 She developed autistic features after vaccination and a subsequent febrile illness, and was later found to have a mitochondrial disorder. Her parents sued the Department of Health and Human Services for compensation under the Vaccine Injury Compensation Program and won. Neurological regression is a common feature of autism, usually occurring before 3 years of age. A number of studies have demonstrated an increased prevalence of mitochondrial disorders in patients with autistic features. In children with autism associated with hypotonia, epilepsy, and developmental delay (HEADD syndrome), respiratory chain abnormalities and mtDNA mutations are especially prevalent. Weissman et al.9 studied 25 children with autistic features and mitochondrial disease diagnosed by respiratory chain complex deficiency or mtDNA mutation analysis. This group showed features not typical of idiopathic autism, with a high incidence of fatigability, early gross motor delay, or atypical regressions, either multiple or occurring after the age of 3 years. These clinical features may allow selection of patients with autism for investigation of mitochondrial disorders. One of these patients was the one described with the vaccination reaction. The authors point out that temporal relation does not prove causation. Verity et al. describe three patients with autistic features. In two of these patients there was a temporal relationship between the onset of clinical symptoms and vaccination, although one of these patients simultaneously experienced Norwalk virus infection. Deterioration in patients with mitochondrial disease is frequently precipitated by infective illness. Weismann et al. point out that vaccination and infection may both provide a non-specific stress that may provoke deterioration in an infant with a mitochondrial disease, and this could be associated with the appearance of autistic features. Around 50% of Verity et al.’s cases presented during the first year of life, a time when there is likely to be a temporal relationship with vaccination, and also febrile viral illness. The extent to which vaccination will be blamed for deterioration in mitochondrial disease remains to be seen." @default.
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• W1964317174 date "2009-10-10" @default.
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• W1964317174 title "Clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration" @default.
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