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. Author manuscript; available in PMC: 2017 Mar 1.
Published in final edited form as: Am J Med Genet A. 2016 Mar;170(3):565–573. doi: 10.1002/ajmg.a.37513

Table IV.

Distinguishing severity of impacts

Categories of genetic conditions
Shortened lifespan
Many children do not live past 5 years of age, even with medical interventions
Many children do not live past 18 years of age, even with medical interventions
Many adults do not live past 40 years of age, even with medical interventions
Serious Mild
Intellectual impairments Many children will have long-term
dependency on others for care
Many children will not be high achievers in
school but can function independently as
adults
Medically involved Many children take daily medications or use
special diets, and typically see a doctor four
or more times a year and may need
occasional hospitalizations
Many children will need to follow a special
diet or take daily medications, and typically
need to see a doctor fewer than four times a
year
Physical impairments Many children will have impairments that
will affect their lives daily, such as serious
hearing, vision, or mobility problems
Many children will be clumsy and not excel in
sports or have reduced vision or hearing
Adult onset conditions Most people do not develop symptoms until
adulthood, but these symptoms typically
include serious intellectual or physical
impairments, or are very medically involved
Most people do not develop symptoms until
adulthood, and these symptoms typically
include mild intellectual or physical
impairment or are mildly medically involved