Cardiac Status - LVMI g/m2
|
Baseline
|
160 |
446 |
277 |
410 |
317 |
347 |
220 |
|
Current (week)
|
81 |
80 |
65 |
92 |
164 |
108 |
83 |
Respiratory Status
|
Baseline
|
O2
|
O2 and BiPAP at night |
O2
|
Invasively ventilated |
Invasively ventilated |
Invasively ventilated |
No support required |
|
Current
|
No respiratory support |
O2 and BiPAP at night |
No respiratory support |
Off ventilator 10–12 hours a day |
O2 and BiPAP at night |
BiPAP at night |
Invasive ventilation at week 38 ERT until death 2 months later |
Motor Status
|
Baseline
|
Head lag and severe hypotonia and motor delay |
Head lag, antigravity movements arms>legs, |
Severe hypotonia, floppy baby, no head or neck control |
Axial hypotonia, withdraws extremities to stimulation, contractures of large joint of upper and lower extremities, weak grasp |
Head lag unable to sit or roll over |
Severe hypotonia, Antigravity movement in arms |
Unable to independently hold head or sit unsupported |
|
Current
|
Minor head lag when pulled to sit, rolls over, lifts head from prone, sits unsupported, cruises, briefly stands unsupported |
Bears weight independently |
Ambulates independently |
Sits with support; minimal capacity for weight bearing on lower extremities |
Standing with support |
Marked axial and peripheral hypotonia, yet able to move arms against gravity; near-complete lower extremity immobility |
Not able to independently hold head or sit unsupported |
Feeding Status
|
Baseline
|
NG tube feeds at age 2 months for dysphagia and fatigue. |
NG tube feeds due to aspiration |
NG tube feeds started at age 1.4 months |
Baseline – G-tube feeds and continues |
NJ feeds started at age 3 months |
Aspiration and penetration with feeding and started on NG tube feeds at baseline. |
NG tube feeds at age 3 months due to aspiration |
|
Current
|
Oral feeds |
GJ tube |
Oral feeds |
G tube |
G tube |
G-tube feeds |
GJ tube |