Table 5 Comparison of the prevalence of phenotypes between patients with 22q13 deletions encompassing more than SHANK3 gene and loss of SHANK3 alone
Clinical feature | 22q13 deletions encompass more than SHANK3 gene | Loss of SHANK3 alone | P valuea |
|---|---|---|---|
Physical features | |||
Microcephalyb | 2/11(18%) | 1/10(10%) | 1.000 |
Macrocephalyc | 0/11(0%) | 1/10(10%) | 1.000 |
Sparse eyebrows | 1/11(9%) | 2/10(20%) | 0.586 |
Long eyelashes | 0/11(0%) | 1/10(10%) | 1.000 |
Periorbital fullness | 3/11(27%) | 2/10(20%) | 1.000 |
Descending palpebral fissure | 4/11(36%) | 3/10(30%) | 1.000 |
Hypertelorism | 3/11(27%) | 0/10(0%) | 0.214 |
Strabismus | 4/11(36%) | 2/10(20%) | 0.635 |
Epicanthal folds | 0/11(0%) | 1/10(10%) | 1.000 |
Wide nasal bridge | 2/11(18%) | 1/10(10%) | 1.000 |
Large/wide nose | 2/11(18%) | 0/10(0%) | 1.000 |
Bulbous nose | 1/11(9%) | 2/10(20%) | 1.000 |
Anteverted nares | 0/11(0%) | 1/10(10%) | 1.000 |
Full cheeks | 0/11(0%) | 1/10(10%) | 1.000 |
Frontal bossing | 2/11(18%) | 2/10(20%) | 1.000 |
Short philtrum | 1/11(9%) | 0/10(0%) | 1.000 |
Ear anomalies | 1/11(9%) | 4/10(40%) | 0.149 |
Thick lower lip | 1/11(9%) | 2/10(20%) | 0.586 |
Down-turned mouth | 2/11(18%) | 1/10(10%) | 1.000 |
Short stature/delayed growthd | 1/17(6%) | 1/12(8%) | 1.000 |
Tall stature/accelerated growthe | 4/17(24%) | 1/12(8%) | 0.370 |
Developmental/neurological | |||
DD/ID | 13/15(87%) | 10/11(91%) | 1.000 |
Speech (absent speech versus sentences, age ≥ 3) | 8/12(67%) | 3/8(38%) | 0.370 |
Any type of seizures (including febrile seizures) | 4/17(24%) | 3/12(25%) | 1.000 |
Overheats or turns red easily | 3/17(13%) | 2/12(17%) | 1.000 |
Decreased perspiration | 2/17(6%) | 0/12(0%) | 1.000 |
Overly sensitive to touch | 3/17(18%) | 2/12(17%) | 1.000 |
Increased pain tolerance | 11/17(65%) | 7/12(58%) | 1.000 |
Arachnoid cyst | 3/17(18%) | 1/12(8%) | 0.622 |
Hypotonia | 12/17(71%) | 12/12(100%) | 0.059 |
Gait abnormalities | 10/17(59%) | 6/12(50%) | 1.000 |
Neuroimaging abnormalities | 9/12(75%) | 4/9(44%) | 0.159 |
Behavioral features | |||
Autism spectrum disorder (age ≥ 3) | 10/17(59%) | 7/8(88%) | 0.205 |
Impulsiveness | 11/17(65%) | 11/12(92%) | 0.187 |
Chewing difficulties (difficulty with eating) | 5/17(29%) | 5/12(42%) | 0.694 |
Biting (self or others) | 5/17(29%) | 4/12(33%) | 1.000 |
Hair pulling | 4/17(19%) | 5/12(42%) | 0.231 |
Excessive screaming | 3/17(24%) | 2/12(17%) | 1.000 |
Aggressive behavior | 5/17(29%) | 4/12(33%) | 1.000 |
Nonstop crying (crying non-stop for 3 h) | 6/17(35%) | 7/12(58%) | 0.274 |
Hyperactivity | 14/17(82%) | 10/12(83%) | 1.000 |
Self-injury | 3/17(24%) | 0/12(0%) | 0.246 |
Pica | 1/17(6%) | 2/12(17%) | 0.553 |
Repetitive behaviors | 11/17(65%) | 9/12(75%) | 0.694 |
Sleep disturbance | 4/17(19%) | 3/12(25%) | 1.000 |
Regression | 5/17(29%) | 7/11(63%) | 0.121 |
Other clinical features | |||
Gastroesophageal reflux | 2/17(12%) | 0/12(0%) | 0.498 |
Diarrhea/constipation | 3/17(24%) | 4/12(33%) | 1.000 |
Genital anomalies | 1/15(7%) | 0/7(0%) | 1.000 |
Eczema | 4/17(24%) | 4/12(33%) | 0.683 |
Immune deficiency | 1/17(7%) | 0/12(0%) | 1.000 |
Recurring upper respiratory tract infections | 5/17(29%) | 1/12(8%) | 0.354 |
Hearing loss | 1/17(7%) | 0/12(0%) | 1.000 |
Congenital heart defect | 2/17(12%) | 1/12(8%) | 1.000 |
Allergies | 3/17(24%) | 2/12(17%) | 1.000 |
Asthma | 1/17(7%) | 0/12(0%) | 1.000 |