Screening for FMR1 CGG Repeat Expansion in Thai Patients with Autism Spectrum Disorder

Table 2

Review of the literature on fragile X syndrome screening in ASD patients. Only studies that performed molecular techniques for fragile X testing are included.

Country/region	Study subjects	Instrument(s) used for ASD diagnosis	Method(s) for FXS testing	Main findings	References
Asian countries
China	73 ID, DD, ADHD, ASD (28 ASD)	NA	SB	Premutation: 1.4% (1/73)	Chan and Wong [33]
China	143 ASD patients	DSM-III-R	PCR	Intermediate, premutation, full mutation: 0% (0/143)	Poon et al. [95]
China	177 ASD patients	NA	PCR	Premutation, full mutation: 4.5% (8/177)	Wang et al. [34]
Japan	109 ASD patients	DSM-IV; ICD-10	PCR with CE; SB	Intermediate, premutation, full mutation: 0% (0/109)	Otsuka et al. [53]
Indonesia	144 patients; (i) 32 ASD; (ii) 112 ID	NA	PCR with CE; SB	Full mutation: 0.7% (1/144); (i) ASD: 0% (0/32); (ii) ID: 0.9% (1/112)	Winarni et al. [54]
Indonesia	65 ASD patients	DSM-IV-TR; CARS	Cytogenetics; PCR; SB	Full mutation: 6.15% (4/65)	Winarni et al. [35]
Korea	66 ASD patients	DSM-IV; CARS	SB	Premutation: 7.6% (5/66); Full mutation and mosaic mutation: 1.5% (1/66)	Kang et al. [36]
Korea	101 patients; (i) 31 ASD; (ii) 63 ID; (iii) 7 LD	NA	Cytogenetics; PCR; SB	Full mutation: 1% (1/101)	Kwon et al. [37]
Sri Lanka	850 patients; (i) 135 ASD; (ii) 112 ADHD; (iii) 603 physical and behavioral disorders	NA	PCR with CE; MCA; (FastFraX™ FMR1 kit); MS-PCR; SB	(i) Intermediate: 0.1% (1/850); (ii) Premutation: 0.8% (7/850); (iii) Full mutation: 1.3% (11/850) (4 ASD, 3 ADHD, 4 physical and behavioral disorders)	Chandrasekara et al. [38]
Thailand	202 ASD patients (168 males, 34 females)	DSM-IV	PCR with CE; MS-PCR; SB	(i) Intermediate: 1% (2/202); (ii) Premutation, full mutation: 0% (0/202)	This study
Non-Asian countries (Australia, European, South American, North American)
Australia (Tasmania)	1,248 ID, ADHD, ASD	NA	PCR; SB	(i) Intermediate: 3.4% (43/1,248); (ii) Premutation, full mutation: 0% (0/1,248)	Mitchell et al. [56]
Australia	16 ASD patients (fragile X testing)	DSM-IV-TR	PCR; SB	Full mutation: 1.2% (2/167)	Mordaunt et al. [39]
Brazil	83 ASD patients	NA	PCR with CE	(i) Intermediate: 4.8% (4/83); (ii) Premutation: 4.8% (4/83); (iii) Full mutation: 0% (0/83)	Ferreira et al. [40]
Canada	2,486 ID, DD, ASD	NA	NA	(i) Premutation: 0.4% (10/2,486); (ii) Full mutation and mosaic mutation: 1.2% (30/2,486)	Borch et al. [41]
France	312 ASD patients (fragile X testing)	DSM; ADOS; CARS; ADI-R	NA	Full mutation: 1.3% (4/312)	Munnich et al. [42]
Italy	2,850 patients; (i) 2,750 ID, DD, hyperactivity; (ii) 82 ASD; (iii) 18 POI	NA	PCR with CE; TP-PCR; AmplideX™ FMR1 kit; SB	Intermediate: 0.5% (13/2,850); Premutation: 2.9% (83/2,850); (i) ID, DD: 2.8% (77/2,750); (ii) ASD: 0% (0/82); (iii) POI: 33.3% (6/18); Full mutation: 2.9% (82/2,850); (i) ID, DD: 2.9% (81/2,750); (ii) ASD: 1.2% (1/82); (iii) POI: 0% (0/18)	Esposito et al. [43]
Israel	59 ASD patients (fragile X testing)	DSM-IV; CARS	Cytogenetics; SB	Full mutation: 3.4% (2/59)	Kosinovsky et al. [44]
Spain	206 ASD patients	DSM-V	PCR with CE; (Asuragen AmplideX kit PCR/CE FMR1)	Full mutation: 1% (2/206)	Arteche-López et al. [45]
Sweden	142 ASD patients; (fragile X testing)	DSM-IV; ABC	NA	Full mutation: 0.7% (1/142)	Eriksson et al. [46]
USA	316 ASD patients	NA	Cytogenetics; PCR; SB	(i) Intermediate: 2.2% (7/316); (ii) Premutation: 0.3% (1/316); (iii) Full mutation and mosaic mutation: 1.9% (6/316)	Reddy [47]
USA	861 ASD patients (fragile X testing)	DSM-IV-TR	NA	(i) Premutation: 0.2% (2/861); (ii) Full mutation and mosaic mutation: 0.2% (2/861)	Shen et al. [48]
USA	183 ASD patients (fragile X testing)	DSM-IV	NA	Premutation: 1.1% (2/183); Full mutation: 0.5% (1/183)	Roesser [49]
USA	174 ASD patients (fragile X testing)	ADOS; ABC; CARS; GARS; DSM-IV	NA	Full mutation: 0.6% (1/174)	McGrew et al. [50]
USA	599 patients; (i) 453 autism/ASD; (ii) 146 DD	ADI-R; ADOS	PCR with CE; TP-PCR	(i) Intermediate: 1.3% (8/599); (7 autism/ASD, 1 DD); (ii) Premutation: 0.3% (2/599) (2 DD); (iii) Full mutation: 0.7% (4/599) (2 autism, 2 DD)	Tassone et al. [51]
USA	75 ASD patients (fragile X testing)	NA	PCR with CE; TP-PCR	Full mutation: 0% (0/75)	Weinstein et al. [55]
USA	299 ASD patients	DSM-V	PCR with CE; (Asuragen AmplideX kit PCR/CE FMR1)	(i) Intermediate: 0.7% (2/299); (ii) Premutation: 1% (3/299); (iii) Full mutation and mosaic mutation: 1.3% (4/299)	Harris et al. [52]

41-60 repeats; retrospective chart review. ASD: autism spectrum disorder; ABC: Autistic Behavior Checklist; ADOS: Autism Diagnostic Observation Schedule; ADI-R: Autism Diagnostic Interview-Revised; ADHD: attention deficit hyperactivity disorder; CE: capillary electrophoresis; DD: developmental delay; DSM: Diagnostic and Statistical Manual of Mental Disorders; GARS: Gilliam Autism Rating Scale; ID: intellectual disability; MCA: melting curve analysis; NA: not available; POI: Primary ovarian insufficiency; SB: southern blot analysis.