Parameters:
(1) intellectual disability
(2) speech
(3) growth parameters at birth
(4) head circumference after birth
(5) epilepsy or EEG abnormalities
(6) ataxic gait or motor incoordination
(7) breathing abnormalities (hyperventilation fits or apneic episodes)
(8) constipation
(9) brain MRI abnormalities (hypoplasia of corpus callosum, thin hindbraiin, enlargement of ventricles)
(10) ophthalmoplegic abnormalities (strabismus, myopia, astigmatism)
(11) facial features
|
Parameter
|
Finding
|
Points
|
|
intellectual disability
|
none or mild
|
0
|
|
|
moderate or severe
|
2
|
|
speech
|
absent
|
2
|
|
|
severe impairment
|
1
|
|
|
no to moderate impairment
|
0
|
|
growth parameters at birth
|
normal
|
1
|
|
|
abnormal
|
0
|
|
head circumference
|
postnatal microcephaly
|
1
|
|
|
progressive slowing down of head circumference
|
1
|
|
|
normal
|
0
|
|
epilepsy or EEG abnormalities
|
absent
|
0
|
|
|
present
|
1
|
|
ataxic gait or motor incoordination
|
absent
|
0
|
|
|
present
|
1
|
|
breathing abnormalities
|
absent
|
0
|
|
|
present
|
1
|
|
constipation
|
none
|
0
|
|
|
mild to severe
|
1
|
|
brain MRI abnormalities
|
absent
|
0
|
|
|
present
|
1
|
|
ophthalmologic abnormalities
|
absent
|
0
|
|
|
present
|
1
|
|
facial features
|
typical for PTHS
|
4
|
|
|
partially consistent
|
2
|
|
|
other
|
0
|
where:
• Severe language impairment involves 2-3 word sentences and/or a vocabulary of more than 10 words.
total score =
= SUM(points for all 11 parameters)
Interpretation:
• minimum score: 0
• maximum score: 16
• A score >= 10 was 100% sensitive but 38% specific.
• A score >= 13 had a sensitivity of 89% and specificity of 90%.
