From: Can untreated PKU patients escape from intellectual disability? A systematic review
Patient characteristics | Frequency (percentage) |
---|---|
Gender: | |
-male | 12 (20%) |
-female | 45 (76%) |
-not reported | 2 (3%) |
Reason diagnosis: | |
-PKU sibling | 19 (32%) |
-PKU offspring | 8 (16%) |
-affected offspring | 19 (32%) |
-screening | 10 (17%) |
-PKU relative | 1 (2%) |
-other | 6 (10%) |
-not reported | 2 (3%) |
Genetic confirmation of PAH deficiency | |
-yes | 14 (24%) |
-not reported | 45 (76%) |
Intellectual Quotient (IQ): | |
80–90 | 17 (29%) |
90–100 | 16 (27%) |
100–120 | 12 (20%) |
≥ 120 | 2 (3%) |
“normal” | 12 (20%) |
Neurological outcome: | |
-abnormal | 17 (68%) |
-no abnormalities (reported) | 8 (32%) |
Psychological/psychiatric/social outcome: | |
-abnormal | 10 (48%) |
-no abnormalities (reported) | 11 (52%) |