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]a | Giangreco et al. 1996 [7] | Merenstein et al. 1996 [8]b | Merenstein et al. 1996 [8]b | Crabbe et al. 1993 [9]c | Butler et al. 1991 [10]d | de Vries et al. 1999 [11]e | Arvio et al. 1997 [12] | Behery 2008 [13] | Alanay et al. 2007 [14]f | Demirhan et al. 2003 [15] | Bastaki et al. 2004 [16]g | Iqbal et al. 2000 [17]h | Kanwal et al. 2015 [18]i | Guruju et al. 2009 [19]j | Verma and Elango 1994 [20]k | H. R. Moon and S. Y. Moon 1993 [21] | Our studyl |
| Physical Characteristics | ||||||||||||||||||
| Elongated face | 83% | 33% | 62% | 79% | NA | NA | 51% | NA | 35% | 83% | 29% | 100% | NA | 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% | NA | 54% | 91% | 19% | 84% | 59% | 89% | 21% | 23% | 11% | 55% | 15% | NA | 94% | 30% | 70% | 53% |
| High-arched palate | 94% | NA | 50% | 53% | 63% | NA | NA | NA | NA | NA | 21% | 100% | NA | NA | NA | 20% | NA | 21% |
| Flat feet | 69% | NA | 82% | 54% | NA | NA | NA | NA | NA | NA | NA | 30% | NA | NA | NA | NA | NA | 21% |
| Hyperextensible joint | 100% | NA | 82% | 46% | 82% | 58% | 41% | 57% | 47% | 76% | 7% | 100% | NA | 15% | 68% | NA | NA | 38% |
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| Behavioral Characteristics | ||||||||||||||||||
| Hyperactivity (H)/attention deficit (A)/both (B) | NA | 59% (B) 8% (H) |
89% (H) | 69% (H) | NA | 63% (A) 74% (H) |
NA | 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 | NA | 50% | NA | NA | NA | NA | NA | NA | 15% | 32% | 29% | 45% | 0% | NA | NA | NA | 60% | 27% |
| Shyness | NA | NA | 58% | 73% | NA | NA | NA | 68% | NA | NA | NA | NA | NA | NA | NA | NA | 30% | 20% |
| Aggressiveness | NA | NA | 59% | 54% | NA | NA | NA | NA | NA | NA | 36% | NA | NA | NA | NA | NA | NA | 21% |
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| Study Participants | ||||||||||||||||||
| FH of ID | 69% | 59% | NA | NA | NA | 74% | 78% | 30% | 68% | 66% | 50% | 70% | 46% | 46% | 92% | NA | NA | 41% |
| Diagnostic methods | CG, DNA | CG, SB | PCR, SB | PCR, SB | CG | CG | PCR, SB | CG | RT-PCR | SB | CG | CG, PCR | CG | PCR, SB | PCR, SB | CG | CG | 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 | 20 | 10 : 0 | 56 : 0 |
| Age range (years) | NA | 1.5–33 | 3–12 | >12 | 4–13 | 3.7–71.9 | NA | 21–54 | 2–20 | 2–22 | 2–12 | Pre puberty (45%) Post puberty (55%) |
NA | NA | 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 | NA | 31.7 (±11.0) | NA | 7.2 (±4.0) | 6.6 (±3.2) | NA | NA | NA | NA | NA | 6.2 (±2.6) | 6.3 (±3.0) |
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| Country | USA | USA | USA | USA | USA | USA | Nether-lands | Finland | Egypt | Turkey | Turkey | Kuwait | Saudi Arabia | Pakistan | India | India | South Korea | Thailand |
aData from 34 Caucasians and 2 African Americans. bCombined 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 6.4 ± 3 (n = 96), 6.4 ± 3 (n = 5), and 6.9 ± 3.1 (n = 4), respectively. Mean age and sample size for postpubertal males in fully methylation group, partial methylation group, and mosaic group were 22.4 ± 8.7 (n = 64), 22.1 ± 7.5 (n = 7), and 22.6 ± 12.1 (n = 22), respectively. Mean age showed in the table was from fully methylation group. cData from 14 Caucasians and 3 African Americans. dData from 15 Caucasians and 4 African Americans. eHyperextensible 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%. fMacroorchidism in prepubertal and postpubertal patients were 23% and 41%, respectively. Pervasive developmental disorder found in 32% of patients. g85% of patients had sibling(s) with ID, and 70% of patients had relative(s) with ID. h95.6% of population, including those with and without FXS, were younger than 20 years old. Of these, 83.4% were 5–15 years old. iAge of all participants (including FXS and non-FXS patients) ranged from 4 to 40 years; mean ± SD 14.3 ± 7.0 years. jAge of participants ranged from 4 to 8 years (4%), 8 to 12 years (16%), 12 to 16 years (12%), and >16 years (68%). kNumber of males and females was not specified. lFamily 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.