Table 3 Abnormalities on tiered medical evaluation in 35 patients with Down syndrome and unexplained regression (URDS)
From: Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database
URDS (N = 35) | Controls (N = 35) | p valuea | |||
|---|---|---|---|---|---|
# Abnormal/# completed | % | # Abnormal/# completed | % | ||
Tier 1 | |||||
PSG | 12/20 | 60.0% | 5/15 | 33.3% | >0.99 |
Vitamin D | 12/24 | 50.0% | 4/14 | 28.6% | 0.688 |
Celiac screen | 5/33 | 15.2% | 1/24 | 4.2% | 0.625 |
Thyroid function tests (TSH, free T4) | 5/35 | 14.3% | 4/33 | 11.4% | >0.99 |
Folate | 2/22 | 9.1% | 0/6 | 0.0% | >0.99 |
LFTs | 2/31 | 6.5% | 2/15 | 13.3% | >0.99 |
CBC | 2/35 | 5.7% | 3/35 | 8.6% | >0.99 |
Hearing test | 1/21 | 4.8% | 2/26 | 7.7% | >0.99 |
Brain MRI | 1/28 | 3.6% | 0/2 | 0.0% | >0.99 |
Vision screen | 0/23 | 0.0% | 1/22 | 4.5% | >0.99 |
Constipation | 0/11 | 0.0% | 0/7 | 0.0% | – |
Vitamin B12 | 0/21 | 0.0% | 0/7 | 0.0% | – |
Electrolytes | 0/33 | 0.0% | 1/12 | 8.3% | >0.99 |
Patients with abnormal tier 1 | 23 | 65.7% | 15 | 42.9% | |
# Abnormal tier 1 measures (mean ± SD) | 1.2 ± 1.1 | 0.7 ± 0.9 | 0.026 | ||
Tier 2 | |||||
EEG | 2/23 | 8.7% | 0/4 | 0.0% | >0.99 |
ASO+ and presenting with tics, obsessive–compulsive symptoms or other abnormal movements | 1/15 | 6.7% | – | – | |
Antinuclear antibodies | 1/21 | 4.8% | 1/3 | 33.3% | >0.99 |
Lyme antibodies | 0/16 | 0.0% | 0/1 | 0.0% | – |
ESR | 0/22 | 0.0% | 0/4 | 0.0% | – |
CRP | 0/23 | 0.0% | 1/13 | 7.7% | >0.99 |
Rapid-plasma reagin | 0/15 | 0.0% | 0/1 | 0.0% | – |
HIV status | 0/16 | 0.0% | 0/2 | 0.0% | – |
Patients with abnormal tier 2 | 5 | 14.3% | 2 | 13.3% | |
# Abnormal tier 2 measures (mean ± SD) | 0.1 ± 0.4 | 0.1 ± 0.2 | 0.429 | ||
