Table 1.
Disorder | Prevalence per 100 a | Mean severity a | No. of pubs (2000–2009) | No. of pubs (2010–2019) | % Change b | No. of cases in U.S. (2019) c | Pub index d |
---|---|---|---|---|---|---|---|
Lesch–Nyhan syndrome | 0.0005 | 4 | 76 | 73 | −3.95 | 369 | 19.78 |
Lowe syndrome | 0.0005 | 4 | 72 | 111 | 54.17 | 369 | 30.08 |
Rubinstein–Taybi syndrome | 0.0008 | 3.5 | 116 | 203 | 75.00 | 590 | 34.38 |
Cornelia de Lange syndrome | 0.0014 | 4 | 220 | 323 | 46.82 | 1,033 | 31.26 |
Cri du chat syndrome | 0.002 | 4 | 60 | 89 | 48.33 | 1,476 | 6.03 |
Galactosemia | 0.002 | 2.5 | 305 | 336 | 10.16 | 1,476 | 22.76 |
Angelman syndrome | 0.004 | 3.79 | 349 | 543 | 55.59 | 2,952 | 18.39 |
Williams syndrome | 0.0044 | 3.31 | 787 | 1,125 | 42.95 | 3,247 | 34.65 |
Marfan syndrome | 0.0067 | 1.5 | 930 | 1,598 | 71.83 | 4,945 | 32.32 |
Prader–Willi syndrome | 0.0067 | 3.17 | 970 | 1,209 | 24.64 | 4,945 | 24.45 |
Rett syndrome | 0.008 | 3.94 | 946 | 1,524 | 61.10 | 5,904 | 25.81 |
PKU | 0.01 | 2 | 1,276 | 1,641 | 28.61 | 7,380 | 22.24 |
Duchenne muscular dystrophy | 0.0143 | 2.5 | 1,436 | 3,929 | 173.61 | 10,553 | 37.23 |
Tuberous sclerosis | 0.0167 | 2.69 | 1,432 | 2,464 | 72.07 | 12,325 | 19.99 |
Trisomy 18 | 0.025 | 3.7 | 251 | 347 | 38.25 | 18,450 | 1.88 |
Velocardiofacial syndrome | 0.025 | 2.72 | 589 | 1,062 | 80.31 | 18,450 | 5.76 |
Turner syndrome | 0.04 | 1.94 | 1,017 | 1,548 | 52.21 | 29,520 | 5.24 |
XYY | 0.0545 | 2 | 86 | 101 | 17.44 | 40,221 | 0.25 |
XXX | 0.055 | 1.5 | 31 | 35 | 12.90 | 40,590 | 0.09 |
Noonan syndrome | 0.0571 | 2.5 | 399 | 687 | 72.18 | 42,140 | 1.63 |
Fragile X syndrome | 0.0615 | 3.57 | 937 | 2,554 | 172.57 | 45,387 | 5.63 |
Kinefelter syndrome | 0.086 | 1.83 | 430 | 805 | 87.21 | 63,468 | 1.27 |
Fetal alcohol syndrome | 0.1 | 2.58 | 576 | 748 | 29.86 | 73,800 | 1.01 |
Cerebral palsy | 0.15 | 2.5 | 4,367 | 9,226 | 111.27 | 110,700 | 8.33 |
Down syndrome | 0.1667 | 3.44 | 5,224 | 7,677 | 46.96 | 123,025 | 6.24 |
Neurofibromatosis type 1 | 0.308 | 2 | 1,028 | 1,994 | 93.97 | 227,304 | 0.88 |
Tourette syndrome | 0.5 | 1.25 | 952 | 1,480 | 55.46 | 369,000 | 0.40 |
Autism spectrum disorder | 0.65 | 2.9 | 12,267 | 38,110 | 210.67 | 479,700 | 7.94 |
Developmental dyscalculia | 3 | 1.56 | 81 | 137 | 69.14 | 2,214,000 | 0.01 |
ADHD | 5 | 1.95 | 10,686 | 19,992 | 87.09 | 3,690,000 | 0.54 |
Intellectual disability | 5.5 | 2.75 | 7,792 | 11,338 | 45.51 | 4,059,000 | 0.28 |
Developmental dyslexia | 6 | 1.9 | 2,151 | 3,047 | 41.66 | 4,428,000 | 0.07 |
Developmental coordination disorder | 6.5 | 1.5 | 291 | 764 | 162.54 | 4,797,000 | 0.02 |
Developmental language disorder | 7.4 | 2.15 | 861 | 1,388 | 61.21 | 5,461,200 | 0.03 |
Speech sound disorder | 10 | 1.69 | 280 | 523 | 86.79 | 7,380,000 | 0.01 |
Note. PKU = phenylketonuria; ADHD = attention-deficit/hyperactivity disorder.
As reported in Bishop (2010).
Formula: [(#2010to19 pubs − #2000to09 pubs)/#2000to09 pubs] × 100.
Formula: (73,800,000 U.S. children × prevalence per 100)/100; source: https://www.childstats.gov/americaschildren/tables/pop1.asp.
Number of publications in the decade 2010–2019 per 100 affected cases in the United States based on the population of 73.8 million: (#pubs)/(#cases/100).