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. 2020 Aug 5;51(4):981–992. doi: 10.1044/2020_LSHSS-20-00003

Table 1.

Prevalence, severity rating, number of publications (2000–2009), number of publications (2010–2019), percentage of change from one decade to the next, estimated number of affected children in the United States, and publication index for each condition, ordered by prevalence.

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.

a

As reported in Bishop (2010).

b

Formula: [(#2010to19 pubs − #2000to09 pubs)/#2000to09 pubs] × 100.

c

Formula: (73,800,000 U.S. children × prevalence per 100)/100; source: https://www.childstats.gov/americaschildren/tables/pop1.asp.

d

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).