Table 1 Demographic and clinical variables in the study sample as compared to the Phelan-McDermid Syndrome International Registry (PMSIR) participants 13 or older
From: Psychiatric illness and regression in individuals with Phelan-McDermid syndrome
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 |