Hayes et al developed a scoring system to measure the phenotypic impact of a Mendelian disease on the affected person, including the impact on biological selection, development and social adaptation. It can be used to determine the impact of therapeutic interventions. The authors are from McGill and the Johns Hopkins Universities.
Parameters:
(1) effect on longevity
(2) effect on reproductive capability
(3) effect on somatic growth
(4) effect on intellectual development
(5) learning handicap
(6) work handicap
(7) cosmetic impairment
Parameter
Impact
Points
longevity
none
0
premature post-reproductive death
1
death during reproductive interval
2
death before reproductive age
3
reproductive capability
none
0
impaired
1
inability to reproduce or death before reproductive age
3
somatic growth
none
0
impaired
1
height and weight < 3rd percentile
3
intellectual development
none
0
mild (IQ 70-80)
1
moderate (IQ 50-70)
2
severe (IQ < 50)
3
learning handicap
none
0
remedial schooling
1
special program
2
uneducable
3
work handicap
none
0
mild restriction
1
sheltered workshop
2
no work capability
3
cosmetic impairment
none
0
mild
1
major
3
impact score =
= SUM(points for all 7 parameters)
Interpretation:
• minimum score: 0
• maximum score: 21
• The higher the score the greater the impact of the disorder on the person.
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