Post on 01-Jun-2015
description
Metachromatic Leukodystrophy Natural History
Haadi Ali Rachel Nepomuceno
http://mymldface.blogspot.com/2012/05/memorial-day-tomorrow-is-promised-to-no.html
What is MLD? Rare neurodegenerative disorder 1 in 40,000 to 1 in 160,000 Genetic mutation causes deficiency
of enzyme arylsulfatase Autosomal recessive (both parents
pass on mutated gene) Toxic build up of sulfatides Demyelination of the brain
Background
Symptoms Motor and developmental
regression Seizures, deafness, blindness,
dementia Shorter life span, death
Classifications Late-infantile Juvenile Adult
Background
Ashley, a girl with MLD
Extracted data from evaluations and reports of 71 MLD patients who were evaluated at the Program for the Study of Neurodevelopment in Rare Disorders between 2000 and 2012 47 Late-infantile 23 Juvenile 1 Adult
31 received Umbilical Cord Stem Cell Transplantation
Methods
Dr. Maria EscolarDirector of NDRD
Adaptive Behavior Variables
Dress Independently Can independently dress
themselves Needs assistance for
dressing Eating
Can Eat Independently Cannot Eat Independently
Potty Training Can go to the toilet
without assistance Is not potty trained
Bowel Control Can control bowels Cannot control bowel
1 20
20
40
60
80
100
120
100
0
100
0
100
1
96
4
92
8
Late-infantile Potty Training
Perc
ent
Not Potty Trained Potty Trained
0-1 1-2 2-3 3-4 4+ 0-1 1-2 2-3 3-4 4+Age
1 20
20
40
60
80
100
120
100
0
100
0
100
0
100
0
100
0
Late-infantile Dressing
0-11-22-33-44+
Perc
ent
Cannot Dress Themselves Can Dress Themselves
0-1 1-2 2-3 3-4 4+ 0-1 1-2 2-3 3-4 4+Age
1 20
20
40
60
80
100
120
100
0
100
0
100
0
100
0
97
3
Late-infantile Bowel Control
0-11-22-33-44+
Perc
ent
Cannot Control Bowels Can Control Bowels
0-1 1-2 2-3 3-4 4+ 0-1 1-2 2-3 3-4 4+Age
1 20
20
40
60
80
100
120
100
0
100
0
100
0
91
9
100
0
Late-infantile Eating
0-11-22-33-44+
Perc
ent
Cannot Eat without Assistance Can Eat Without Assistance
0-1 1-2 2-3 3-4 4+ 0-1 1-2 2-3 3-4 4+Age
1 20
20
40
60
80
100
120
50 50
100
0
60
40
71
29
75
25
Juvenile Potty Training
1-24-56-77-810+
Perc
ent
Not Potty Trained Potty Trained
1-2 4-5 6-7 7-8 10+ 1-2 4-5 6-7 7-8 10+Age
1 20
20
40
60
80
100
120
50 50
100
0
33
6772
29
67
33
Juvenile Bowel Control
1-24-56-77-810+Pe
rcen
t
Cannot Control Bowels Can Control Bowels
1-2 4-5 6-7 7-8 10+ 1-2 4-5 6-7 7-8 10+Age
1 20
20
40
60
80
100
120
50 50
0
100
67
33
14
86
75
25
Juvenile Dressing
1-24-56-76-710+
Perc
ent
Cannot Dress Themselves Can Dress Themselves
1-2 4-5 6-7 7-8 10+ 1-2 4-5 6-7 7-8 10+Age
1 20
20
40
60
80
100
120
0
100
0
100
11
89
43
57
100
0
Juvenile Eating
1-24-56-77-810+
Perc
ent
Cannot Eat Without Assistance Can Eat Without Assistance
1-2 4-5 6-7 7-8 10+ 1-2 4-5 6-7 7-8 10+Age
Sitting can sit unassisted sitting with assistance cannot sit with assistance
Self mobility walks unassisted walks with assistance wheelchair no self mobility
Motor Variables
Walking difficulty none mild moderate severe
1 2 30
10
20
30
40
50
60
70
80
90
25
75
0
60
20 20
43
11
46
24
14
62
7
13
80Late-infantile Sitting
Perc
ent
0-1 1-2 2-3 3-4 4+ 0-1 1-2 2-3 3-4 4+ 0-1 1-2 2-3 3-4 4+
Can Sit Sits With Assistance Cannot Sit
Age
1 2 3 40
10
20
30
40
50
60
70
80
0
25
2
75
0
40
0
60
16
21
13
50
5
19
52
24
30
4750
Late-infantile Walking
Perc
ent
0-1 1-2 2-3 3-4 4+ 0-1 1-2 2-3 3-4 4+ 0-1 1-2 2-3 3-4 4+ 0-1 1-2 2-3 3-4 4+
Walks Walks with Assistance Wheelchair Cannot Walk
Age
1 2 3 40
10
20
30
40
50
60
70
80
90
100
0 0
2527
0
40
0
60
8
16 16
61
5
10 10
76
03 3
93
Late-infantile Walking Difficulty
Perc
ent
0-1 1-2 2-3 3-4 4+ 0-1 1-2 2-3 3-4 4+ 0-1 1-2 2-3 3-4 4+ 0-1 1-2 2-3 3-4 4+
None Mild Moderate Severe
Age
1 2 30
20
40
60
80
100
120
100
0 0
100
0 0
100
0 0
86
14
0
50 50
0
Juvenile Sitting
Perc
ent
1-2 4-5 6-7 7-8 10+ 1-2 4-5 6-7 7-8 10+ 1-2 4-5 6-7 7-8 10+
Can Sit Sits With Assistance Cannot Sit
Age
1 2 3 40
20
40
60
80
100
120
100
0 0 0
100
0 0 0
100
0 0 0
86
14
0 0
75
0
25
0
Juvenile Walking
Perc
ent
Walks Walks with Assistance Wheelchair Cannot Walk
1-2 4-5 6-7 7-8 10+ 1-2 4-5 6-7 7-8 10+ 1-2 4-5 6-7 7-8 10+ 1-2 4-5 6-7 7-8 10+Age
1 2 3 40
20
40
60
80
100
120
100
0 0 0
100
0 0 0
100
0 0 0
57
29
14
0
25
50
0
25
Juvenile Walking Difficulty
Perc
ent
None Mild Moderate Severe
1-2 4-5 6-7 7-8 10+ 1-2 4-5 6-7 7-8 10+ 1-2 4-5 6-7 7-8 10+ 1-2 4-5 6-7 7-8 10+Age
More rapid, severe progression in late infantiles than juvenile
Disease progression is the most rapid in late infantiles at age 3 and 4
Disease progression is most apparent in Juveniles at age 7 to 8
Conclusions