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Table 2 Types of symptomsa or functional lossesb experienced by patients, either before diagnosis or at any time

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

  Late-infantile MLD (n = 16) c Juvenile MLD (n = 16) c
Type of symptoma or functional lossb 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 symptoma or functional lossb 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)
  1. MLD metachromatic leukodystrophy
  2. 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)
  3. bA functional loss was defined as a complete loss of a gross motor function, a fine motor or related function, or speech
  4. 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)