Metachromatic Leukodystrophy Natural History Study

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Information about Metachromatic Leukodystrophy Natural History Study
Health & Medicine

Published on January 3, 2014

Author: RachelNepomuceno1

Source: slideshare.net

Description

Metachromatic Leukodystrophy (MLD) is a rare neurodegenerative disorder. It causes demyelination of the brain, causing motor and developmental regression,
seizures, deafness, blindness, dementia, and can lead to death.

We 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 -- focusing specifically on adaptive behavior and motor abilities.

Metachromatic Leukodystrophy Natural History Haadi Ali Rachel Nepomuceno http://mymldface.blogspot.com/2012/05/memorial-day-tomorrow-is-promised-to-no.html

Background 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, dem entia Shorter life span, death Classifications Late-infantile Juvenile Adult Ashley, a girl with MLD

Methods 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 Dr. Maria Escolar Director of NDRD

Adaptive Behavior Variables Potty Training Can go to the toilet without assistance Is not potty trained Bowel Control Can control bowels Cannot control bowel Dress Independently Can independently dress themselves Needs assistance for dressing Eating Can Eat Independently Cannot Eat Independently

120 Late-infantile Potty Training 100 100 100 100 96 92 Percent 80 60 40 20 8 0 0 Age 0-1 1-2 2-3 1 3-4 Not Potty Trained 4+ 0 1 0-1 1-2 2-3 2 Potty Trained 4 3-4 4+

Late-infantile Dressing 120 100 100 100 100 100 100 Percent 80 0-1 60 1-2 2-3 3-4 40 4+ 20 0 0 0 0 0 0 Age 1 0-1 1-2 2-3 3-4 Cannot Dress Themselves 2 4+ 0-1 1-2 2-3 3-4 Can Dress Themselves 4+

120 Late-infantile Bowel Control 100 100 100 100 100 97 Percent 80 60 0-1 1-2 2-3 3-4 40 4+ 20 0 0 0 3 0 0 Age 1 0-1 1-2 2-3 2 3-4 Cannot Control Bowels 4+ 0-1 1-2 2-3 3-4 Can Control Bowels 4+

120 Late-infantile Eating 100 100 100 100 100 91 Percent 80 60 0-1 1-2 2-3 3-4 40 4+ 20 9 0 0 0 0 0 Age 1 0-1 1-2 2-3 Cannot Eat without Assistance 2 3-4 4+ 0-1 1-2 2-3 3-4 Can Eat Without Assistance 4+

Juvenile Potty Training 120 100 100 1-2 80 75 Percent 71 4-5 6-7 60 7-8 60 50 50 10+ 40 40 29 25 20 0 0 Age 1-2 4-5 1 6-7 7-8 Not Potty Trained 10+ 1-2 4-5 2 6-7 Potty Trained 7-8 10+

Juvenile Bowel Control 120 100 100 80 72 Percent 67 67 1-2 4-5 60 50 6-7 50 7-8 10+ 40 33 33 29 20 0 0 1 Age 1-2 4-5 6-7 2 7-8 Cannot Control Bowels 10+ 1-2 4-5 6-7 Can Control Bowels 7-8 10+

120 Juvenile Dressing 100 100 86 80 75 Percent 67 1-2 60 50 4-5 50 6-7 6-7 40 10+ 33 25 20 14 0 0 Age 1 1-2 4-5 6-7 2 7-8 Cannot Dress Themselves 10+ 1-2 4-5 6-7 7-8 Can Dress Themselves 10+

Juvenile Eating 120 100 100 100 100 89 Percent 80 1-2 57 60 4-5 6-7 43 7-8 40 10+ 20 11 0 0 0 0 Age 1 1-2 4-5 6-7 2 7-8 Cannot Eat Without Assistance 10+ 1-2 4-5 6-7 7-8 Can Eat Without Assistance 10+

Motor Variables Sitting can sit unassisted sitting with assistance cannot sit with assistance Self mobility walks unassisted walks with assistance wheelchair no self mobility Walking difficulty none mild moderate severe

90 Late-infantile Sitting 80 80 75 70 62 60 Percent 60 50 46 43 40 30 25 24 20 20 20 14 11 10 13 7 0 0 Age 0-1 1-2 2-3 1 Can Sit 3-4 4+ 0-1 1-2 2-3 2 3-4 Sits With Assistance 4+ 0-1 1-2 2-3 3 3-4 Cannot Sit 4+

80 75 Late-infantile Walking 70 60 60 52 Percent 50 50 50 47 40 40 30 25 24 21 20 19 16 13 10 5 0 3 0 0 2 0 0 Age 0-1 1-2 2-3 1 Walks 3-4 4+ 0-1 1-2 2-3 2 3-4 4+ Walks with Assistance 0-1 1-2 2-3 3 3-4 Wheelchair 4+ 0-1 1-2 2-3 4 3-4 Cannot Walk 4+

100 93 Late-infantile Walking Difficulty 90 80 76 70 60 61 1-2 2-3 4 Percent 60 50 40 40 30 20 16 16 10 8 10 5 0 0 27 25 0 Age0-1 1-2 3 0 2-3 3-4 1 None 10 4+ 3 0 0-1 0 1-2 2-3 2 Mild 3-4 4+ 0-1 1-2 2-3 3 3-4 Moderate 4+ 0-1 Severe 3-4 4+

120 100 100 Juvenile Sitting 100 100 86 Percent 80 60 50 50 40 20 14 0 0 0 1-2 4-5 6-72 0 0 0 0 0 1-2 4-5 6-7 3 7-8 10+ 0 Age 1-2 4-5 6-7 1 Can Sit 7-8 10+ 7-8 10+ Sits With Assistance Cannot Sit

120 100 100 100 100 Juvenile Walking 86 Percent 80 75 60 40 25 20 14 0 0 Age 1-2 4-5 6-7 1 Walks 7-8 10+ 0 0 1-2 4-5 6-7 2 0 7-8 10+ Walks with Assistance 0 0 0 0 1-2 4-5 6-7 3 7-8 Wheelchair 0 10+ 0 0 0 0 1-2 4-5 6-7 4 7-8 10+ Cannot Walk

120 100 100 Juvenile Walking Difficulty 100 100 Percent 80 57 60 50 40 29 25 25 20 14 0 0 Age 1-2 4-5 6-7 1 None 7-8 10+ 0 0 1-2 4-5 6-7 7-8 2 Mild 0 10+ 0 0 1-2 4-5 6-7 3 0 7-8 Moderate 10+ 0 0 0 0 1-2 4-5 6-7 4 7-8 Severe 10+

Conclusions 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

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