Table 1.
Demographic and clinical variables in the study sample as compared to the Phelan-McDermid Syndrome International Registry (PMSIR) participants 13 or older
| This study (n = 38) | PMSIR (n = 130) | Comparison | |
|---|---|---|---|
| Mean age at data collection | 24.7 years ± 9.92 | 20.8 years ± 7.65 |
t(166) = 2.56, p = .011 χ2(1) = 10.21, p = .001 |
| Gender | |||
| Male | 18% (7/38) | 47% (61/130) | χ2(1) = 10.20, p = .001 |
| Female | 82% (31/38) | 53% (69/130) | |
| Genetic defect a | |||
| Terminal deletion | 61% (23/38) | 91% (118/130) | χ2(1) = 19.79, p < .001 |
| Interstitial deletion | – | 2% (3/130) | |
| SHANK3 sequence variant | 39% (15/38) | 7% (9/130) | |
| ASD diagnosis (ever)d | 55% (21/38) | 41% (37/91b) | χ2(1) = 2.105, p = .147 |
| History afebrile seizure(s) | 39% (15/38) | 41% (37/91) | χ2(1) = .044, p = .834 |
| Walked independently (ever) | 100% (38/38) | 81% (64/79c) | χ2(1) = 8.212, p = .004 |
| Spoke in phrases or sentences (ever) | 79% (30/38) | 51% (40/79) | χ2(1) = 8.317, p = .004 |
| Toileted independently “always” or “sometimes” (ever) | 89% (34/38) | 48% (38/79) | χ2(1) = 18.029, p < .001 |
| Dressed self independently (ever) | 78% (30/38) | 42% (33/79) | χ2(1) = 13.26, p < .001 |
| Chronic constipation | 84% (32/38) | 15% (14/91) | χ2(1) = 55.428, p = <.001 |
| Acute urinary retention | 47% (18/38) | 3% (3/87) | χ2(1) = 37.091, p < .001 |
aAmong all Registry participants (n = 509, excluding the study participants), there are 467 terminal deletions (92%), 10 interstitial deletions (2%) and 32 sequence variants (6%)
b91 participants in this age range (excluding the study participants) completed the Registry Clinical Questionnaire
c79 participants in this age range (excluding the study participants) completed the Registry Developmental Questionnaire
dPrior to the onset of neuropsychiatric illness, 42% (16/38) of participants had ASD diagnoses