Diagnostic and severity scores for Cockayne syndrome

Table 1 Severity score including 5 items, each being rated from 0 (worst score) to 3 (best score)

	Score
Head circumference
Normal head circumference for age	3
Head circumference between − 2 SD and − 3 SD (limits included)	2
Head circumference between − 3 SD and − 5 SD (limits excluded)	1
Head circumference equal to or below − 5 SD	0
Weight/height
Absence of growth delay	3
Weight and/or height between − 2 SD and − 3 SD (limits included)	2
Weight and/or height between − 3 SD and − 5 SD (limits excluded)	1
Weight and/or height equal to or below − 5 SD	0
Neurosensorial symptoms
No neurosensorial symptom	3
Neurosensorial symptoms from one or two categories^a	2
Neurosensorial symptoms from three categories^a	1
Neurosensorial symptoms from four categories^a	0
Autonomy/motor development
Normal motor skills for age	3
Moderate motor impairment/motor delay	2
Severe motor impairment/motor delay (or no standing position after 2 years of age)	1
No motor development/bedridden	0
Communication
Normal communication and language for age	3
Moderate communication impairment/speech delay	2
Severe communication impairment (or non-verbal communication only after 2 years)	1
No communication	0
Total	15

SD standard deviation
^aNeurosensorial categories: 1—cerebellar signs (ataxia, action tremor, cerebellar dysarthria); 2—pyramidal or extrapyramidal signs (spasticity, rigidity, akinesia); 3—peripheral nerve involvement (hyporeflexia or areflexia); 4—sensorial impairment (neurosensorial hearing loss, retinopathy, cataracts)

ISSN: 1750-1172