Participants | No of participants in whom a cause was found (%) | Investigations No of participants receiving investigation/no of diagnostic tests (%) | ||||||
TFT | Plasma amino acids | Urine organic acids | Karyotype | Microarray | Fragile X | MRI brain | ||
All participants with EDI and additional features (n=557) | 152 (27.3%) | 378 (67.9%) 3/378 (0.8%) | 338 (60.7%) 5/338 (1.5%) | 265 (47.6%) 3/265 (1.1%) | 86 (15.4%) 2/86 (2.3%) | 363 (65.2) 42/363 (11.6%) | 89 (16.0%) 0/89 (0%) | 338 (60.7%) 81 (24.0%) |
Additional features and a family history of EDI/LD or neurological disease like seizures (n=115) | 26 (22.6%) | 82 (71.3%) 1/82 (1.2%) | 75 (65.2%) 1/75 (1.3%) | 50 (43.5%) 0/50 (0%) | 13 (11.3%) 0/13 (0%) | 81 (70.4%) 10/81 (12.3%) | 19 (16.5%) 0/19 (0%) | 67 (58.3%) 10/67 (14.9%) |
Consanguinity admitted by family (n=26) | 7 (26.9%) | 20 (76.9%) 0/20 (0%) | 17 (65.4%) 0/17 (0%) | 15 (57.7%) 0/15 (0%) | 4 (15.4%) 0/4 (0%) | 16 (61.5%) 2/16 (12.5%) | 2 (7.7%) 0/2 (0%) | 16 (61.5%) 5 (31.3%) |
Dysmorphia (n=132) | 38 (28.8%) | 95 (72.0%) 0/95 (0%) | 89 (67.4%) 2/89 (2.2%) | 68 (51.5%) 1/68 (1.5%) | 14 (10.6%) 0/14 (0%) | 110 (83.3%) 13/110 (11.8%) | 20 (15.2%) 0/20 (0%) | 91 (68.9%) 19/91 (20.9%) |
Macrocephaly (n=33) | 8 (24.2%) | 22 (66.7%) 0/22 (0%) | 20 (60.6%) 0/20 (0%) | 15 (45.5%) 0/15 (0%) | 3 (9.1%) 0/3 (0%) | 23 (69.7%) 4/23 (17.4%) | 5 (15.2%) 0/5 (0%) | 25 (75.8%) 4/25 (16.0%) |
Microcephaly (n=162) | 46 (28.4%) | 110 (67.9%) 1/110 (0.9%) | 106 (65.4%) 2/106 (1.9%) | 85 (52.5%) 1/85 (1.2%) | 27 (16.7%) 1/27 (3.7%) | 112 (69.1%) 15/112 (13.4%) | 27 (16.7%) 0 (0%) | 100 (61.7%) 24 (24.0%) |
Hypertonia/upper motor neuron findings (spasticity, dystonia, brisk reflexes) (n=82) | 40 (48.8%) | 56 (68.3%) 0/56 (0%) | 57 (69.5%) 1/57 (1.8%) | 51 (62.2%) 0/51 (0%) | 10 (12.2%) 0/10 (0%) | 60 (73.2%) 4/60 (6.7%) | 3 (3.7%) 0/3 (0%) | 79 (96.3%) 31 (39.2%) |
Hypotonia (n=84) | 27 (32.1%) | 57 (67.9%) 1/57 (1.8%) | 54 (64.3%) 1/54 (1.9%) | 47 (56.0%) 0/47 (0%) | 10 (11.9%) 0/10 (0%) | 56 (66.7%) 5/56 (8.9%) | 8 (9.5%) 0/8 (0%) | 65 (77.4%) 18/65 (27.7%) |
Gait abnormalities, tremor, cerebellar signs or other movement disorders (n=49) | 17 (34.7%) | 37 (75.5%) 0/37 (0%) | 28 (57.1%) 0/28 (0%) | 24 (49.0%) 0/24 (0%) | 11 (22.4%) 0/11 (0%) | 26 (53.1%) 3/26 (11.5%) | 4 (8.2%) 0/4 (0%) | 39 (79.6%) 11/39 (28.2%) |
Epilepsy (n=29) | 17 (58.6%) | 17 (58.6%) 0/17 (0%) | 22 (75.9%) 1/22 (4.5%) | 16 (55.2%) 0/16 (0%) | 4 (13.8%) 0/4 (0%) | 17 (58.6%) 2/17 (11.8%) | 1 (3.4%) 0/1 (0%) | 27 (93.1%) 10/27 (37.0%) |
Ophthalmological signs (n=96) | 43 (44.8%) | 64 (66.7%) 1/64 (1.6%) | 59 (61.5%) 2/59 (3.4%) | 46 (47.9%) 0/46 (0%) | 15 (15.6%) 0/15 (0%) | 64 (66.7%) 7/64 (10.9%) | 9 (9.4%) 0/9 (0%) | 78 (81.3%) 28/78 (35.9%) |
Hearing difficulties (n=27) | 7 (25.9%) | 17 (63.0%) 0/17 (0%) | 18 (66.7%) 0/18 (0%) | 15 (55.6%) 0/15 (0%) | 2 (7.4%) 0/2 (0%) | 18 (66.7%) 2/18 (11.1%) | 2 (7.4%) 0/2 (0%) | 22 (81.5%) 4/22 (18.2%) |
Cardiac disorder, including congenital cardiac lesions (n=24) | 8 (33.3%) | 14 (58.3%) 0/14 (0%) | 13 (54.2%) 0/13 (0%) | 11 (45.8%) 0/11 (0%) | 2 (8.3%) 0/2 (0%) | 20 (83.3%) 6/20 (30.0%) | 1 (4.2%) 0/1 (0%) | 13 (54.2%) 1/13 (7.7%) |
Airway problem/tracheostomy/sleep apnoea (n=14) | 6 (42.9%) | 7 (50.0%) 0/7 (0%) | 11 (78.6%) 0/11 (0%) | 9 (64.3%) 0/9 (0%) | 3 (21.4%) 1/3 (33.3%) | 9 (64.3%) 2/9 (22.2%) | 1 (7.1%) 0/1 (0%) | 11 (78.6%) 3/11 (27.3%) |
Feeding/swallowing difficulties (n=28) | 9 (32.1%) | 18 (64.3%) 0/18 (0%) | 17 (60.7%) 0/17 (0%) | 16 (57.1%) 0/16 (0%) | 1 (3.6%) 0/1 (0%) | 20 (71.4%) 2/10 (20.0%) | 2 (7.1%) 0/2 (0%) | 23 (82.1%) 7/23 (30.4%) |
Hepatomegaly, abnormal liver function tests, splenomegaly or other features suggestive of inborn error of metabolism (n=12) | 3 (25.0%) | 9 (75.0%) 0/9 (0%) | 12 (100%) 0/12 (0%) | 10 (83.3%) 0/10 (0%) | 4 (25.0%) 0/4 (0%) | 7 (58.3%) 1/7 (14.3%) | 2 (15.4%) 0/2 (0%) | 12 (100%) 0/12 (0%) |
Kidney, urinary tract abnormalities (n=17) | 6 (35.3%) | 9 (52.9%) 0/9 (0%) | 12 (70.6%) 0/12 (0%) | 9 (52.9%) 0/9 (0%) | 5 (29.4%) 0/5 (0%) | 11 (64.7%) 2/11 (18.2%) | 1 (5.9%) 0/1 (0%) | 12 (70.6%) 3/12 (25.0%) |
Poor growth/failure to thrive/short stature (n=61) | 22 (36.1%) | 46 (75.4%) 0/46 (0%) | 39 (63.9%) 1/39 (2.6%) | 31 (50.8%) 2/31 (6.5%) | 12 (19.7%) 0/12 (0%) | 44 (72.1%) 5/44 (11.4%) | 10 (16.4%) 0/10 (0%) | 39 (63.9%) 14/39 (35.9%) |
Obesity (n=17) | 2 (11.8%) | 12 (70.6%) 0/12 (0%) | 9 (52.9%) 0/9 (0%) | 7 (41.2%) 0/7 (0%) | 1 (5.9%) 0/1 (0%) | 9 (52.9%) 1/9 (11.1%) | 1 (5.9%) 0/1 (0%) | 7 (41.2%) 0/7 (0%) |
Skeletal/rheumatological disorder (n=16) | 9 (56.3%) | 9 (56.3%) 0/9 (0%) | 9 (56.3%) 0/9 (0%) | 6 (37.5%) 0/6 (0%) | 3 (18.8%) 0/3 (0%) | 12 (75.0%) 3/12 (25.0%) | 2 (12.5%) 0/2 (0%) | 14 (87.5%) 6/14 (42.9%) |
Features suggestive of ASD (n=99) | 13 (13.1%) | 62 (62.6%) 0/62 (0%) | 54 (54.5%) 0/54 (0%) | 44 (44.4%) 0/44 (0%) | 19 (19.2%) 1/19 (5.3%) | 55 (55.6%) 4/55 (7.3%) | 26 (26.3%) 0/26 (0%) | 42 (42.4%) 4/42 (9.5%) |
Concerns about attention (n=14) | 2 (14.3%) | 9 (64.3%) 0/9 (0%) | 5 (35.7%) 0/5 (0%) | 2 (14.3%) 0/2 (0%) | 3 (21.4%) 0/3 (0%) | 8 (57.1%) 1/8 (12.5%) | 3 (21.4%) 0/3 (0%) | 8 (57.1%) 1/8 (12.5%) |
Antenatal concerns for example, hydrops, alcohol or drug use (n=24) | 10 (41.7%) | 15 (62.5%) 1/15 (6.7%) | 12 (50.0%) 0/12 (0%) | 8 (33.3%) 0/8 (0%) | 4 (16.7%) 0/4 (0%) | 17 (70.8%) 2/17 (11.8%) | 4 (16.7%) 0/4 (0%) | 16 (66.7%) 5/16 (31.3%) |
Ex-preterm (but not felt to explain EDI) (n=59) | 13 (22.0%) | 39 (66.1%) 1/39 (2.6%) | 34 (57.6%) 0/34 (0%) | 22 (37.3%) 1/22 (4.5%) | 11 (18.6%) 0/11 (0%) | 33 (55.9%) 2/33 (6.1%) | 5 (8.5%) 0/5 (0%) | 28 (47.5%) 5/28 (17.9%) |
ASD, autistic spectrum disorder; EDI, early developmental impairment; LD, learning disabilities; TFT, thyroid function test; .