Domain Score of van Rijt et al for a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)

Patient selection: multiple acyl-CoA dehydrogenase deficiency

 

Parameters:

(1) age at onset

(2) congenital anomalies (polycystic kidneys, hypospadias, neuronal migration defects)

(3) cardiomegaly

(4) cardiomyopathy

(5) arrhythmias

(6) leukodystrophy in CNS

(7) other structural brain defects

(8) extrapyramidal symptoms or dystonia

(9) cognitive impairment

(10) sensory neuropathy

(11) neuropathic electromyogram (EMG)

(12) hepatomegaly

(13) hypoglycemia

(14) hepatic dysfunction or failure

(15) hepatic encephalopathy

(16) muscle symptoms

(17) rhabdomyolysis

(18) lipid storage myopathy

(19) myopathic electromyogram (EMG)

(20) respiratory insufficiency requiring mechanical ventilation

(21) overall impact of MADD on well-being over past 3 months or since last management change

 

Parameter	Finding	Points
onset	< 1 month of age	3
	after 1 month of age	0
congenital anomalies	absent	0
	present	6
cardiomegaly	no	0
	yes ( > 2 SD)	9
cardiomyopathy	no	0
	yes	9
arrhythmia	no	0
	yes	9
leukodystrophy	no	0
	yes	9
other structural brain defects	no	0
	yes	9
extrapyramidal symptoms	no	0
	yes	9
cognitive impairment	no	0
	yes	9
sensory neuropathy	no	0
	yes	3
neuropathic EMG	no	0
	yes	3
hepatomegaly	no	0
	yes (> 2 SD)	6
hypoglycemia	>= 2.6 mmol/L	0
	< 2.6 mmol/L	6
hepatic dysfunction/failure	no	0
	yes	6
hepatic encephalopathy	no	0
	yes	6
muscle symptoms	no	0
	yes	6
rhabdomyolysis	no	0
	yes	6
lipid storage myopathy	no	0
	yes	6
myopathic EMG	no	0
	yes	6
respiratory insufficiency	no	0
	yes	6
overall impact	none	0
	minor	3
	moderate	6
	major	9

 

total symptom score =

= SUM(points for all parameters)

 

total MADD-DS3 score =

= SUM(domain scores)

 

domain score for age =

= (points for age)

 

domain score for congenital anomalies =

= (points for congenital anomalies)

 

domain score for cardiac =

= ((points for cardiomegaly) + (points for cardiomyopathy) + (points for arrhythmias)) / 3

 

domain score for CNS =

= ((points for leukodystrophy) + (points for other structural brain defects) + (points for extrapyramidal symptoms) + (points for cognitive impairment)) / 4

 

domain score for PNS =

= ((points for sensory neuropathy) + (points for neuropathic EMG)) / 2

 

domain score for liver =

= ((points for hepatomegaly) + (points for hypoglycemia) + (points for hepatic dysfunction) + (points for hepatic encephalopathy)) / 4

 

domain score for muscle =

= ((points for muscle symptoms) + (points for rhabdomyolysis) + (points for lipid storage myopathy) + (points for myopathic EMG) + (points for respiratory insufficiency)) / 5

 

domain score for patient reported outcome =

= (points for overall impact)

 

Interpretation:

• minimum total symptom score: 0

• minimum domain score: 0

• maximum total symptom score: 141

• maximum domain score: 51

• The higher the domain score the more severe the disorder.