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Table 1 Clinical characteristics of 96 patients with diagnostic results among the 225 patients tested for diagnostic whole-exome sequencing

From: Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing

Characteristics

Individuals, n(%)

P/LP diagnosed individuals, n(%)

P value

Gender

  

0.548

Male

145(64.44)

64(44.14)

 

Female

80(35.56)

32(40.00)

 

Total

225(100.00)

96(42.67)

 

Age(year)

  

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

  

0.548

Isolated DD/ID

80(35.56)

32(40.00)

 

Sydromic DD/ID

145(64.44)

64(44.14)

 

Subgroups of Sydromic DD/ID

  

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

   

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

   

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

  1. P/LP, pathogenic or likely pathogenic; DD, developmental disorder; ID, intellectual disability; MRI, magnetic resonance imaging; EEG, electroencephalogram; ADHD, attention deficit and hyperactivity disorder; BAEP, brainstem auditory evoked potential; VEP, visual evoked potential
  2. a Assessed by BAEP, Universal Newborn Hearing Screening, Ear-nose-throat (ENT) specialists and/ or clinical questionnaire
  3. b Included abnormal VEP signal, strabismus, cortical visual impairment, hypermetropia, ptosis, nystagmus, myopia, etc
  4. c Included cleft lip and cleft palate, dysplasia of auricle, ocular hypertelorism, micrognathia, low set ears, flat nasal bridge, etc
  5. d Included Ventricular septal defect, patent ductus arteriosus, patent foramen ovale, etc
  6. e Included Foot rotation, spina bifida, scoliosis, arthrogryposis, hexadactyly, etc
  7. f Included Ectopic ureteral orifice, anal stenosis, intestinal obstruction, renal dysplasia, micropenis, hypospadias, etc
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BMC Genomics

ISSN: 1471-2164

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