Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers

Table 2 Types of symptoms^a or functional losses^b experienced by patients, either before diagnosis or at any time

	Late-infantile MLD (n = 16) ^c	Juvenile MLD (n = 16) ^c
Type of symptom^a or functional loss^b experienced pre-diagnosis
Gross motor function, n (%)	15 (93.8)	9 (56.3)
Fine motor or related function, n (%)	10 (62.5)	7 (43.8)
Cognitive function, n (%)	1 (6.3)	11 (68.8)
Speech, n (%)	7 (43.8)	3 (18.8)
Social and/or behavioural function, n (%)	4 (25.0)	10 (62.5)
Other, n (%)	9 (56.3)	10 (62.5)
Types of symptom^a or functional loss^b experienced at any time
Any gross motor function loss, n (%)	15 (93.8)	12 (75.0)
Walking impairments, n (%)
Independent walking never developed	11 (68.8)	0 (0.0)
Walking partially lost	1 (6.3)	4 (25.0)
Walking completely lost	4 (25.0)	7 (43.8)
Any fine motor or related function loss, n (%)	15 (93.8)	12 (75.0)
Cognitive impairment, n (%)	6 (37.5)	15 (93.8)
Speech loss, n (%)	15 (93.8)	8 (50.0)
Social and/or behavioural impairment, n (%)	4 (25.0)	15 (93.8)
Seizures, n (%)	7 (43.8)	9 (56.3)
Pain (nerve or muscle spasms), n (%)	13 (81.3)	6 (37.5)
Spasticity and/or muscle spasms, n (%)	13 (81.3)	11 (68.8)
Incontinence or wearing diapers, n (%)	12 (75.0)	10 (62.5)

MLD metachromatic leukodystrophy
^aSymptoms reported by parents were assigned to the given categories during analysis (e.g. gripping, finger movements or swallowing were classified as fine motor functions; head control, sitting and standing/walking were classified as gross motor functions)
^bA functional loss was defined as a complete loss of a gross motor function, a fine motor or related function, or speech
^cCertain symptoms may not have been queried with every parent, so a lack of report may not necessarily indicate that the child never experienced that symptom (i.e. ‘n’ may, for certain symptoms, be less than reported here)

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