Table 1.
Comparison of the clinical presentation of SMS patients with common deletion and RAI1 mutations.
| SMS Patients | ||
|---|---|---|
| Phenotypes | % in Common 17p11.2 Deletion [3,8,11] | % in RAI1 Mutations [5,8,9,11] |
| Craniofacial Abnormalities | 100 | 100 |
| Skeletal Abnormalities | ||
| Short stature | 70–80 | 11 |
| Scoliosis/ Vertebral Abnormalities | 73 | 40–50 |
| Short broad hands/Brachydactyly | 85 | 88 |
| Otorhinolaryngological | ||
| Hoarse Voice | 66–80 | 76–86 |
| Hearing loss | 60–68 | 11–33 |
| Neurological | ||
| Cognitive Impairment | 100 | 100 |
| Infantile hypotonia | <90 | 50–61 |
| Speech delay | >90 | 70 |
| Motor delay | >90 | 60-70 |
| Sleep disturbance | 90 | 100 |
| EEG abnormalities | 50–66 | 80 |
| Seizures | 11–30 | 16.6–50 |
| Behavioral | ||
| Self-hugging | 50–80 | 100 |
| Onychotillomania | 25–85 | 80–100 |
| Polyembolokoilamania | 25–85 | 75–80 |
| Head banging/face slapping | 70 | 90 |
| Hand biting | 80 | 60–71 |
| Attention seeking | 80–100 | 100 |
| Aggressive behavior | 55 | |
| Self-injurious behavior | 70–90 | >90 |
| Hyperactivity | 80 | 100 |
| Autistic features | 90 [7] | NR |
| Other features | ||
| Cardiac defects | 30 | 0 |
| Renal/urinary tract defect | 30 | 0 |
| Obesity | 18 | 78 |
| Overeating | 25 | 81 |
EEG = Electroencephalogram; NR = phenotype not reported.