Table 1

Medical history and demographic data of ASD patients

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%)


1Western Europeans refers to people born mainly in Catalonia (northeast Spain), but some are from other Spanish locations;

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 Slight elevation of the lactic acid in blood or urine in single or repeated sampling

Álvarez-Iglesias et al. BMC Medical Genetics 2011 12:50   doi:10.1186/1471-2350-12-50

Open Data