Table 1 Demographic and clinical characteristics of individuals diagnosed with Phelan-McDermid syndrome
From: Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome
Participant # | Sex | Age at evaluation (years) | DQ | ASD | Developmental regression | Verbal communication | Age at independent walking (months) | Neuropsychiatric comorbidities | Brain MRI | Seizures |
|---|---|---|---|---|---|---|---|---|---|---|
1 | F | 5.5 | < 50 | N | Y | N | 19 | ADHD | Normal | Y |
2 | F | 2.5 | < 50 | Y | Y | N | 20 | N | Normal | Y |
3 | M | 9 | < 50 | Y | Y | N | 16 | ADHD | Normal | N |
4 | F | 3.5 | < 50 | Y | N | N | Non ambulatory | N | Thin CC, pineal cyst, arachnoid cyst with sylvian fissure enlargement | N |
5 | F | 13 | < 50 | Y | Y | N | 30 | Behavioral outbursts | Mild enlargement with dysplastic lateral ventricles, thin CC | Y |
6 | M | 10 | N/A | N | N | Y Speech dyspraxia | 14 | Anxiety, behavioral outbursts | Normal | Y |
7 | F | 4.5 | < 50 | N | Y | Y Speech dyspraxia | Non ambulatory | N | WM abnormalities | N |
8 | M | 36 | < 50 | Y | Y | N | 12 | ADHD | Ventriculomegaly | N |
9 | F | 12 | < 50 | Y | Y | Y | 36 | N | Normal | Y |
10 | F | 6 | 76 | Y | Y | Y | 20 | N | N/A | N |
11 | F | 7 | < 50 | N | Y | N | 26 | ADHD | WM abnormalities | N |
12 | F | 20 | N/A | Y | Y | N | 24 | Behavioral outbursts | Parietal lobe atrophy and WM abnormalities | Y |
13 | M | 12 | 70 | Y | N | Y | 18 | ADHD, OCD | N/A | N |
14 | M | 6 | 55 | N | Y | Y | 20 | ADHD | N/A | N |
15 | M | 3.5 | 60 | Y | N | Y | 15 | ADHD | Susp old hemorrhage in cerebellum | Y |
16 | F | 17 | < 50 | Y | Y | N | 14 | Anxiety, depression, tics | Normal | Y |
17 | M | 4.5 | 85 | Y | N | Y | 12 | N | N/A | N |