The natural history of Canavan disease: 23 new cases and comparison with patients from literature

Table 3 Canavan disease rating score

Symptoms/neurological domain	Deficit absent/Within normal limits/(score = 0)	Deficit present intermittently or mild (score = 1)	Deficit present constantly or pronounced (score = 2)
Epileptic Seizures^a
Floppiness (truncal hypotonia)
Spasticity (appendicular hypertonia)
Macrocephaly^b
Feeding^c
Language^d
Responsive social smile
Visual tracking
Head control
Reaches for objects
Sits without support

Score 0 if findings are normal/appropriate to age.
^aEpileptic seizures: Score 0 if no epileptic seizures, not taking antiepileptic drug/s (AED). Score 1 if 1–2 unprovoked seizures/year, not taking AED/s OR no seizures but on 1 AED. Score 2 if > /= 3 > /= 3 unprovoked seizures /year OR no seizures but requires more than 1 AED
^bMacrocephaly: Score 1 if head growth is accelerated (absolute head size is still within normal range but > 2 or more major percentiles (5, 10, 25, 50, 75, 90, 95 P) are crossed). Score 2 if head size is above 97th Percentile
^cFeeding: Score 1 if oral feeding is possible but aspiration occurs and/or weight gain is insufficient (patient losing weight or crossing insufficient (patient losing weight or crossing of 2 or more major percentiles (5, 10, 25, 50, 75, 90, 95 P) of his bodyweight). Score 2 if tube feeding is necessary
^dLanguage delay: Score 1 if some vocalization besides crying. Score 2 if no vocalization besides crying
Minimum: 0 Points (appropriate for age)
Maximum: 22 points (severely affected)

ISSN: 1750-1172