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Table 1 Medical history and demographic data of ASD patients

From: Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder

  Adult cohort
n= 60
Child cohort
n= 88
Sex (M/F ratio) 2.3 4.5
Age (Mean ± SD; years) 42.8 ± 8 10.2 ± 4.2
Ethnicity (%)   
   Western Europeans1 60 (100%) 81 (92%)
   Other ethnicities - 7 (8%)
Epilepsy 23 (38.3%) 9 (10.2%)
Dysmorphism 2 22 (36.6%) 6 (6.8%)
Mild mitochondrial dysfunction 23 1/9 (11%) 2/26 (7.7%)
  1. 1Western Europeans refers to people born mainly in Catalonia (northeast Spain), but some are from other Spanish locations;
  2. 2 All patients were examined by at least two clinical geneticists. Body and facial measurements were compared with normal ranges for age. Microcephaly or macrocephaly were defined by measures of the occipitofrontal head circumference (OFC) below the 3rd centile or above 97th centile, respectively. In this study we classified the patients as "dysmorphic" if they had three minor anomalies or more, abnormal growth or OFC parameters, or at least one major malformation.
  3. 3 Slight elevation of the lactic acid in blood or urine in single or repeated sampling