From: Characterisation of the clinical phenotype in Phelan-McDermid syndrome
Sample characteristics | N | % |
---|---|---|
Sex | ||
Male | Female | 30 | 30 | 50 | 50% |
Age | ||
0–5 years | 14 | 23.3% |
6–11 years | 25 | 41.7% |
12–17 years | 12 | 20.0% |
≥18 years | 9 | 15.0% |
Socioeconomic status | ||
Low | M-low | Middle | 1 | 14 | 9 | 1.6% | 23.3% | 15% |
M-upper | Upper | 17 | 19 | 28.3% | 31.6% |
Gestational age | ||
Pre-term (<37 weeks) | 12 | 20.0% |
Full-term (38–42 weeks) | 48 | 80.0% |
Language (≥3 yo)* | 54 | |
No words | 28 | 51.9% |
Single words | 7 | 13.0% |
Simple sentences | 11 | 20.4% |
Fluid speech | 8 | 14.8% |
Developmental regression/Loss of skills (parent reported) | ||
Yes | No | 25 | 35 | 41.7 | 58.3% |
Recovered skills | ||
Yes | No | 12 | 13 | 48 | 52% |
Autistic and other clinically relevant behaviours | N | % |
ADOS-2* | 48 | - |
Total-CSS 1–3 | 12 | 25.0% |
Total-CSS 4–5 | 8 | 16.7% |
Total-CSS 6–10 | 28 | 58.3% |
CBCL* (1.5–5 years | 6–18 years) | 10 | 28 | |
Emotionally reactive | 4 | n/a | 40% | n/a |
Anxious/depressed | 0 | 0 | 0% | 0% |
Somatic complaints | 0 | 6 | 0% | 21% |
Sleep problems | 1 | n/a | 10% | n/a |
Attention problems | 6 | 20 | 60% | 71% |
Withdrawn | 7 | 7 | 70% | 25% |
Aggressive | 3 | 6 | 30% | 21% |
Rule-breaking | n/a | 3 | n/a | 11% |
Social problems | n/a | 18 | n/a | 64% |
Thought problems | n/a | 15 | n/a | 54% |
SDQ* | 33 | |
Emotional symptoms | 1 | 3.0% |
Conduct problems | 2 | 6.1% |
Hyperactivity | 21 | 63.6% |
Peer relations difficulties | 22 | 66.7% |
Difficulties with prosocial behaviour | 28 | 84.8% |
Total | 17 | 51.5% |