Table 1.
Frequencies or distributions of clinical findings of KMT2C-related NDD
| Clinical findinga | Frequency or distribution |
|---|---|
| Sex (males/females, n [%]) (n=75) | 41 (54.7)/34 (45.3) |
| Age at last examination (years, m[IQR]) (n=71) | 11.33 (5.17; 20) |
| Craniofacial dysmorphisms (n [%]) (n=70) | 63 (90) |
| Antenatal and neonatal features | |
| Abnormal pregnancy findings (n [%]) (n = 61) | 14 (23) |
| Small/large for gestational age (n [%]) (n = 48) | 9 (18.8)/2 (4.2) |
| Primary microcephaly/primary macrocephaly (n [%]) (n = 23) | 3 (13)/1 (4.3) |
| Neonatal hypotonia (n [%]) (n = 52) | 15 (28.8) |
| Neonatal feeding difficulties (n [%]) (n = 51) | 25 (49) |
| Neurological and developmental features | |
| Gross motor delay (n [%]) (n = 69) | 60 (87) |
| Fine motor delay (n [%]) (n = 48) | 38 (79.2) |
| Speech delay (n [%]) (n = 65) | 52 (80) |
| Mutism (n [%]) (n = 47) | 7 (14.9) |
| Developmental regression (n [%]) (n = 45) | 6 (13.3) |
| Cognitive impairment (n [%]) (n = 69) Mild/moderate/severe (n [%])(n = 48) |
59 (85.5) 24 (50)/12 (25)/12 (25) |
| Features or diagnosis of ASD (n [%]) (n = 61) | 48 (78.9) |
| Features or diagnosis of ADHD (n [%]) (n = 51) | 31 (60.8) |
| Other behavioral/psychiatric problems (n [%]) (n=61) Hetero/self-aggressive behavior (n [%]) Obsessive/compulsive behavior (n [%]) Other (n [%]) |
39 (63.9) 11 (18) 9 (14.8) 28 (45.9) |
| Seizure history (n [%]) (n = 66) | 10 (15.2) |
| Hypotonia (n [%]) (n = 57) | 19 (33.3) |
| CNS anomalies/abnormalities (n [%]) (n = 29) | 10 (34.5) |
| Other neurological issues (n [%]) (n=61) Abnormal gait (n [%]) Other (n [%]) |
14 (22.9) 8 (13) 9 (15) |
| Endocrine anomalies (n [%]) (n=71) Short statureb (n [%]) Hypothyroidism (n [%]) |
40 (56.3) 39 (54.9) 3 (4) |
| Gastrointestinal/nutritional anomalies (n [%]) (n=43) Constipation (n [%]) Other (n [%]) |
23 (53.5) 6 (14) 21 (48.8) |
| Ophthalmological problems (n=60) Refractive error (n [%]) Strabismus (n [%]) Other (n [%]) |
32 (53.3) 20 (33.3) 12 (20) 4 (6.7) |
| Hearing impairment (n [%]) (n=58) | 17 (29.3) |
| Musculoskeletal anomalies (n [%]) (n=64) Kyphosis and/or scoliosis (n [%]) Joint hypermobility (n [%]) Other (n [%]) |
32 (50) 10 (15.6) 5 (7.8) 25 (39.1) |
| Ectodermal anomalies (n [%]) (n=41) Hypertrichosis Other (n [%]) |
16 (39) 4 (9.8) 12 (29.3) |
| Immunological anomalies (n [%]) (n=43) Recurrent infections (n [%]) Other (n [%]) |
15 (34.8) 11 (25.6) 4 (9.3) |
| Respiratory anomalies (n [%]) (n=42) Central/obstructive sleep apnea (n [%]) Asthma (n [%]) Other (n [%]) |
14 (33.3) 7 (16.7) 6 (14.3) 2 (4.8) |
| Palate anomalies (n [%]) (n=37) High/narrow palate (n [%]) Cleft lip/palate (n [%]) |
12 (32.4) 11 (29.7) 1 (2.7) |
| Cardiovascular anomalies (n [%]) (n=54) Septal defects (n[%]) Conduction disorder (n[%]) Valvular anomalies (n [%]) Other (n [%]) |
13 (24.1) 6 (11.1) 6 (11.1) 4 (7.4) 3 (5.6) |
| Genitourinary anomalies (n [%]) (n=39) Uni/bilateral inguinal hernia (n [%]) Other (n [%]) |
8 (20.5) 2 (5.1) 7 (17.9) |
| Dental anomalies (n [%]) (n=70) Dental crowding (n [%]) Prominent upper incisors (n [%]) Other (n [%]) |
13 (18.8) 6 (8.6) 6 (8.6) 1 (1.4) |
ADHD, attention deficit hyperactivity disorder; ASD, autism spectrum disorder; CNS, central nervous system; IQR, interquartile range; m, median; SD, standard deviation.
a
The number of responders are detailed for every feature, and their frequencies/distributions were calculated according to that number. Individuals with another NDD were excluded.
b
At any moment documented <−2SD.