Table 1.
Developmental history and medical features.
| IND | Age | Sex | Variant (NM_ 015559.2) | History of feeding difficulties | Intellectual impairment | Speech therapy | Fine motor abilitya | Gross motor abilitya | OT/PT | ADHD/ attention issues |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 0y8m | M | c.453_454insTGGG (p.(Lys152Trpfs*18)) | Y | # | N | Mod. Low | Mod. Low | Y | N |
| 2 | 1y3m | M | arr[GRCh37] 18q12.3(42519449_42567840)x1 | Y | # | N | Mod. Low* | Mod. Low | Y | N |
| 3 | 2y11m | F | c.1588C>T (p.(Arg530*)) | Y | # | Y | Mod. Low | Mod. Low | Y | Y |
| 4 | 3y2m | M | arr 18q12.2q12.3(34576844_43015201)x1 | Y | # | Y | Mod. Low | Mod. Low | N | N |
| 5 | 3y4m | F | c.1633G>T (p.(Glu545*)) | N | # | Y | Adequate | Mod. Low | Y | N |
| 6 | 3y7m | F | c.1630C>T (p.(Arg544*)) | Y | # | Y | Y~ | Y~ | Y | N |
| 7 | 3y8m | F | c.1873C>T (p.(Arg625*)) | Y | Mild | Y | Low | Mod. Low | Y | Y |
| 8 | 4y6m | F | c.1777C>T (p.(Gln593*)) | N | Mild | Y | Adequate | Mod. Low | Y | Y |
| 9 | 5y7m | F | c.1876C>T (p.(Arg626*)) | Y | Moderate | Y | Y~ | Y~ | Y | Y |
| 10 | 6y1m | M | c.1408delA (p.(Met470*)) | Y | Moderate~ | Y | Mod. Low | Mod. Low | Y | N |
| 11 | 6y2m | M | c.726_732del (p.(Arg243Leufs*98)) | N | Borderline | Y | Mod. Low* | Adequate | Y | Y |
| 12 | 6y10m | M | c.1676delC (p.(Pro559Argfs*21)) | N | Mild | Y | Adequate | Mod. Low | Y | Y |
| 13 | 7y0m | F | c.3799_3800insC (p.(Gly1267Alafs*17)) | Y | Moderate | Y | Low | Mod. Low | Y | Y |
| 14 | 7y2m | M | c.3120C>A (p.(Tyr1040*)) | N | Borderline | Y | Mod. Low | Low | Y | Y |
| 15 | 7y6m | M | c.337delG (p.(Ala113Leufs*94)) | Y | Mild–moderate | Y | Mod. Low | Mod. Low | Y | N |
| 16 | 8y1m | M | c.1568delA (p.(His523Leufs*32)) | Y | Borderline | Y | Mod. Low | Mod. Low | Y | Y |
| 17 | 8y5m | M | c.821G>A (p.(Trp274*)) | N | Borderline | Y | Adequate | Adequate | Y | Y |
| 18 | 8y11m | F | c.2665C>T (p.(Arg889*)) | Y | Borderline | Y | Y | Y | Y | N |
| 19 | 9y4m | F | c.1765C>T (p.(Arg589*)) | N | Mild | Y | Low | Mod. Low | Y | N |
| 20 | 11y0m | M | c.1730_1749del (p.(Leu577Glnfs*20)) | Y | Moderate | Y | Low* | Adequate* | Y | Y |
| 21 | 11y7m | M | c.1821del (p.(Ser608Alafs*22)) | Y | Mild | Y | Low* | Mod. Low* | Y | Y |
| 22 | 12y0m | F | c.422dup (p.(Arg142Valfs*7)) | Y | Mild | Y | Mod. Low* | Mod. Low* | Y | Y |
| 23 | 12y1m | M | c.1873C>T (p.(Arg625*)) | N | Mild | Y | Low* | Adequate* | Y | Y |
| 24 | 13y0m | M | arr[hg19] 18q12.3q21.1(39600614_45460709)x1 | N | Moderate | Y | Y~ | NA | N | N |
| 25 | 13y5m | M | c.403C>T (p.(Gln135*)) | N | Severe~ | Y | Low* | Adequate* | N | N |
| 26 | 13y7m | M | c.1765C>T (p.(Arg589*)) | N | Mild | Y | Low* | Mod. Low* | Y | Y |
| 27 | 14y2m | F | c.2076_2092delinsC (p.(Lys693Profs*86)) | Y | Mild | Y | Mod. Low* | Adequate* | Y | Y |
| 28 | 14y10m | M | c.2156del (p.(Gly719Glufs*65)) | Y | Mild–moderate | Y | Low* | Mod. Low* | Y | Y |
| 29 | 15y10m | M | c.39_40del (p.(Gly15Argfs*47)) | N | Moderate | Y | Low* | Mod. Low* | N | N |
| 30 | 19y10m | M | c.2464del (p.(Ile822Tyrfs*13)) | N | Moderate | Y | N~ | N~ | Y | N |
| 31 | 23y2m | M | c.2982C>G (p.(Tyr994*)) | Y | Average | Y | Mod. Low* | Mod. Low* | Y | N |
Severity of cognitive impairment was based on standard ID severity levels: borderline (71–85), mild (50/55–70), moderate (35–49/54), severe [20–34], profound (<20); ~ = parent report; # = no clinical cognitive assessment due to young age.
y years, m months, F Female, M male, Y feature present, N feature absent, OT occupational therapy received, PT physiotherapy received, ADHD attention deficit hyperactivity disorder.
aMotor scores on Vineland Adaptive Behaviour Scale.
*Performance compared to peers aged 9y11m which is the age limit of the normative data for this motor tool.