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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 collection24.7 years ± 9.9220.8 years ± 7.65t(166) = 2.56, p = .011
χ2(1) = 10.21, p = .001
Gender
 Male18% (7/38)47% (61/130)χ2(1) = 10.20, p = .001
 Female82% (31/38)53% (69/130)
Genetic defect a
 Terminal deletion61% (23/38)91% (118/130)χ2(1) = 19.79, p < .001
 Interstitial deletion2% (3/130)
SHANK3 sequence variant39% (15/38)7% (9/130)
ASD diagnosis (ever)d55% (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 constipation84% (32/38)15% (14/91)χ2(1) = 55.428, p = <.001
Acute urinary retention47% (18/38)3% (3/87)χ2(1) = 37.091, p < .001
  1. 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%)
  2. b91 participants in this age range (excluding the study participants) completed the Registry Clinical Questionnaire
  3. c79 participants in this age range (excluding the study participants) completed the Registry Developmental Questionnaire
  4. dPrior to the onset of neuropsychiatric illness, 42% (16/38) of participants had ASD diagnoses