Characteristics | Individuals, n(%) | P/LP diagnosed individuals, n(%) | P value |
---|---|---|---|
Gender | Â | Â | 0.548 |
Male | 145(64.44) | 64(44.14) | Â |
Female | 80(35.56) | 32(40.00) | Â |
Total | 225(100.00) | 96(42.67) | Â |
Age(year) | Â | Â | 0.536 |
< 2 | 89(39.55) | 37(41.57) |  |
(2–6) | 94(41.78) | 43(45.74) |  |
≥ 6 | 42(18.67) | 16(38.10) |  |
Family history | 35(15.56) | 17(48.57) | 0.442 |
Classification | Â | Â | 0.548 |
Isolated DD/ID | 80(35.56) | 32(40.00) | Â |
Sydromic DD/ID | 145(64.44) | 64(44.14) | Â |
Subgroups of Sydromic DD/ID | Â | Â | 0.221 |
DD/ID + Hearing loss | 71(48.97) | 40(56.34) |  |
DD/ID + Malformations | 54(37.24) | 27(50.00) |  |
DD/ID + Epilepsy | 44(30.34) | 19(43.18) |  |
DD/ID + Visual loss | 34(23.45) | 21(61.76) |  |
DD/ID + Behavioural troubles | 16(11.03) | 5(31.25) |  |
DD/ID + Metabolic disorder | 7(4.83) | 5(71.43) |  |
Clinical examinations | Â | Â | Â |
Abnormal Brain MRI | 95/169(56.21) | 42(44.21) | 0.9 |
Abnormal EEG | 86/154(55.84) | 35(40.70) | 0.331 |
Abnormal BAEP | 69/87(79.31) | 39(56.52) | 0.03 |
Abnormal VEP | 24/27(88.89) | 14(58.33) | 0.569 |
Clinical features | Â | Â | Â |
Intellectual disability | 146/225(64.89) | 60(41.10) | 0.517 |
Speech delay | 118/225(52.44) | 48(40.68) | 0.526 |
Motor delay | 104/225(46.22) | 47(45.19) | 0.478 |
Hearing lossa | 71/225(31.56) | 40(56.34) | 0.005 |
Seizures/epilepsy | 44/225(19.56) | 19(43.18) | 0.939 |
Dystonia | 37/225(16.44) | 18(48.65) | 0.421 |
Visual lossb | 34/225(15.11) | 21(61.76) | 0.005 |
Social Dysfunction | 31/225(13.78) | 14(45.16) | 0.762 |
Facial dysmorphismc | 28/225(12.44) | 17(60.71) | 0.039 |
Congenital heart diseased | 20/225(8.89) | 9(45.00) | 0.825 |
Short stature | 19/225(8.44) | 10(52.63) | 0.359 |
Limb defectse | 12/225(5.33) | 5(41.67) | 0.943 |
Congenital anomalies of Urogenital systemf | 9/225(4.00) | 5(55.56) | 0.501 |
Metabolic disorder | 7/225(3.11) | 5(71.43) | 0.14 |
Stereotypic behaviors | 7/225(3.11) | 3(42.56) | 1 |
Autism spectrum disorder | 6/225(2.67) | 1(16.67) | 0.243 |
Dysphagia | 4/225(1.78) | 3(75.00) | 0.315 |
ADHD | 3/225(1.33) | 1(33.34) | 1 |
Macrocephaly | 3/225(1.33) | 1(33.34) | 1 |
Microcephaly | 2/225(0.89) | 1(50.00) | 1 |
Ataxia | 1/225(0.44) | 1(100.00) | 0.427 |