Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test

Table 1 Demographics of 101 patient-parent trios

Variable	Whole Sample (N = 101)
Gender, n (%)
Male	73 (72)
Female	28 (28)
Male-female ratio	2.6:1
Age, years (SD)
Age at diagnosis of probands	5 (3)
Maternal age at conception	28 (4)
Paternal age at conception	30 (4)
Type of Marriage, n (%)
Consanguineous	8 (8)
Non-consanguineous	31 (31)
Endogamous	62 (61)
Phenotype, n (%)
Developmental delay	101 (100)
Speech delay	101 (100)
Intellectual disability	101 (100)
Epilepsy/ seizures	28 (27.7)
Subtle facial dysmorphism	28 (27.7)
Regression (social/ speech)	55 (54.4)
Genetic testing received^a, n (%)
Karyotype	101 (100)
Fragile-X (FMR1 triplet repeat expansion)	73 (72)
Chromosomal microarray	101 (100)
Whole exome sequencing ^b	99 (98)

^a Genetic testing was carried out in proband only. In cases with a candidate variant, orthogonal testing approaches (Sanger sequencing and/or Q-PCR) were used to assess and validate the variant in the parents
^b Whole exome sequencing was carried out in 99 of 101 cases, as the cohort contained two monozygotic twin pairs and only one proband from each twin pair was processed

ISSN: 1471-2377