Skip to main content

Advertisement

Table 1 Pathogenic/Likely pathogenic rates by clinical annotation and family structure among the 371 DD/ID-affected individuals

From: Genomic diagnosis for children with intellectual disability and/or developmental delay

Characteristic Individuals (n (%)) Individuals with P/LP result (n (%))
Age (years)
 2–5 96 (25.8) 26/96 (27.1)
 6–12 165 (44.5) 42/165 (25.4)
 13–18 61 (16.5) 20/61 (32.8)
 19–40 47 (12.7) 15/47 (32.0)
  > 40 2 (0.54) 0/2 (0.00)
Average age (range) (years) 10.56 (2–54)
Sex
 Male 214 (57.7) 52/214 (24.3)
 Female 157 (42.3) 51/157 (32.5)
Clinical specifics
 Intellectual disability, mild (HP:0001256) 2 (0.5) 0/2 (0)
 Intellectual disability, moderate (HP:0002342) 298 (80.3) 82/298 (27.5)
 Intellectual disability, severe (HP:0010864) 44 (11.9) 11/44 (25)
 Speech delay (HP:0000750) 255 (68.7) 69/255 (27.1)
 Seizures (HP:0001250) 168 (45.3) 52/168 (30.9)
 Facial dysmorphism (HP:0001999) 112 (30.2) 33/112 (29.5)
 Autism spectrum disorder (HP:000729) 95 (25.6) 18/95 (18.9)
 Hypotonia (HP:0001252) 75 (20.2) 26/75 (34.6)
 Positive brain MRI 65 (17.5) 18/64 (28.1)
 Macrocephaly (HP:0000256) 36 (9.70) 9/36 (25.0)
 Microcephaly (HP:0000252) 34 (9.16) 16/34 (47.0)
 ADHD (HP:0007018) 27 (7.28) 7/27 (25.9)
 Failure to thrive (HP:0001508) 22 (5.90) 6/22 (27.3)
 Short stature (HP:0004322) 18 (4.85) 8/18 (44.4)
Previous genetic testing
 Microarray 222 (59.8) 61/222 (27.5)
 Single gene/Gene panel 142 (38.3) 43/142 (30.3)
 Karyotype 108 (29.1) 39/108 (36.1)
 Fragile-X 101 (27.2) 28/101 (27.7)
 Mito DNA Screen 28 (7.55) 7/28 (25.0)
Family structure
 Trio 309 (83.3) 90/309 (29.1)
 Duo 42 (11.3) 8/42 (19.0)
 Singleton 20 (5.4) 3/20 (15.0)