International Journal of Pediatrics

Research Article

Common Clinical Characteristics and Rare Medical Problems of Fragile X Syndrome in Thai Patients and Review of the Literature

Table 1

Common clinical characteristics observed in patients with FXS.

Region

America

Europe

Middle East

South Asia

East and South East Asia

Reference

Lachiewicz et al. 2000 [6]

Giangreco et al. 1996 [7]

Merenstein et al. 1996 [8]

Crabbe et al. 1993 [9]

Butler et al. 1991 [10]

de Vries et al. 1999 [11]

Arvio et al. 1997 [12]

Behery 2008 [13]

Alanay et al. 2007 [14]

Demirhan et al. 2003 [15]

Bastaki et al. 2004 [16]

Iqbal et al. 2000 [17]

Kanwal et al. 2015 [18]

Guruju et al. 2009 [19]

Verma and Elango 1994 [20]

H. R. Moon and S. Y. Moon 1993 [21]

Our study

Physical Characteristics

Elongated face

83%

33%

62%

79%

51%

35%

83%

29%

100%

38%

32%

60%

90%

48%

Large ear (L)/prominent ears (P)/both (B)

72% (L)

83% (L)

24% (L)
78% (P)

45% (L)
54% (P)

100% (L)

95% (L)

27% (B)

84% (L)

53% (B)

90% (L/P)

43% (P)
29% (L)

90% (L)

30% (L)

46% (L/P)

88% (L)

60% (L/P)

90% (L)

59% (L)
80% (P)
49% (B)

Macroorchidism

63%

54%

91%

19%

84%

59%

89%

21%

23%

11%

55%

15%

94%

30%

70%

53%

High-arched palate

94%

50%

53%

63%

21%

100%

20%

21%

Flat feet

69%

82%

54%

30%

21%

Hyperextensible joint

100%

82%

46%

82%

58%

41%

57%

47%

76%

100%

15%

68%

38%

Behavioral Characteristics

Hyperactivity (H)/attention deficit (A)/both (B)

59% (B)
8% (H)

89% (H)

69% (H)

63% (A)
74% (H)

57% (B)

44% (H)

23% (B)
87% (A)
83% (H)

71% (A)
93% (H)

85% (B)

92% (H)

69% (B)

80% (A)
84% (H)

70% (H)

80% (A)
90% (H)

75% (B)
93% (A)
85% (H)

Autism/autistic-like

50%

15%

32%

29%

45%

60%

27%

Shyness

58%

73%

68%

30%

20%

Aggressiveness

59%

54%

36%

21%

Study Participants

FH of ID

69%

59%

74%

78%

30%

68%

66%

50%

70%

46%

92%

41%

Diagnostic methods

CG, DNA

CG, SB

PCR, SB

RT-PCR

CG, PCR

PCR, SB

Sample size (male : female)

36 : 0

11 : 1

125 : 0

93 : 0

16 : 1

19 : 0

59 : 0

20 : 0

34 : 0

103 : 0

9 : 5

20 : 0

24 : 2

10 : 3

25 : 0

10 : 0

56 : 0

Age range (years)

1.5–33

3–12

>12

4–13

3.7–71.9

21–54

2–20

2–22

2–12

Pre puberty (45%)
Post puberty (55%)

4–12 years (20%)
12–>16 years (80%)

<10 years (65%)
>10 years (35%)

2–10.2

1.5–12.2

Mean age
(±SD) (years)

6.2 (±2.4)

7.9

6.4 (±3.0)

22.4 (±8.7)

8.3

21.3

31.7 (±11.0)

7.2 (±4.0)

6.6 (±3.2)

6.2 (±2.6)

6.3 (±3.0)

Country

USA

Nether-lands

Finland

Egypt

Turkey

Kuwait

Saudi Arabia

Pakistan

India

South Korea

Thailand

Data from 34 Caucasians and 2 African Americans. Combined data from males with fully methylation, males with partial methylation, and males with mosaic FM/PM. Mean age and sample size for prepubertal males in fully methylation group, partial methylation group, and mosaic group were (), (), and (), respectively. Mean age and sample size for postpubertal males in fully methylation group, partial methylation group, and mosaic group were (), (), and (), respectively. Mean age showed in the table was from fully methylation group. Data from 14 Caucasians and 3 African Americans. Data from 15 Caucasians and 4 African Americans. Hyperextensible metacarpophalangeal digit V was found in 41% of patients and digits V and I in 15% of patients. Macroorchidism for both sides was 59% and for one side or moderate was 9%. Macroorchidism in prepubertal and postpubertal patients were 23% and 41%, respectively. Pervasive developmental disorder found in 32% of patients. 85% of patients had sibling(s) with ID, and 70% of patients had relative(s) with ID. 95.6% of population, including those with and without FXS, were younger than 20 years old. Of these, 83.4% were 5–15 years old. Age of all participants (including FXS and non-FXS patients) ranged from 4 to 40 years; mean ± SD years. Age of participants ranged from 4 to 8 years (4%), 8 to 12 years (16%), 12 to 16 years (12%), and >16 years (68%). Number of males and females was not specified. Family history of X-linked ID was 11%. Attention deficit and/or hyperactivity were 96%; NA = not available, FH = family history, ID = intellectual disability, PCR = polymerase chain reaction, SB = Southern blot, and CG = cytogenetics.