Detailed characteristics of included studies describing clinical manifestations of primary ciliary dyskinesia (PCD), stratified by age group of participants

First author [ref.]Country of publicationYear of publicationParticipants nAge yearsType of clinicType of studyStudy designDiagnosticsSymptoms stratified by ageSymptom severity assessedSitus anomaliesLower respiratory symptomsUpper respiratory symptomsNeonatal respiratory distressCongenital heart diseaseInfertility
 Alsaadi [48]Saudi Arabia20132211PaediatricCase–controlREM + nNO+++
 Barlocco [52]Italy1991288 (0–18)Paediatric pulmonologyCase seriesPEM+++
 Beucher [53]France2011177Paediatric pulmonologyCase seriesREM + nNO+++
 Busquets [55]Spain201335Paediatric pulmonologyCase seriesREM+
 Davis [46]USA20151188 (5–11)CombinationCase seriesPEM + nNO + genetics++++
 Enderby [91]#UK2010179+ (4–17)PaediatricsCase seriesRClinical diagnosis only++++
 Hosie [90]Australia2015846+ (0–18)PaediatricsCohortREM + VM + nNO+++++
 Jain [44]UK200789Paediatric pulmonologyCase seriesREM + VM + nNO++++
 Korppi [65]Finland201112PaediatricsCohortREM++
 Min [68]South Korea19951910 (5–15)PaediatricsCase seriesREM+++
 Mullowney [87]Canada20145511Paediatric pulmonologyCase–controlREM + nNO + genetics++++
 O'Callaghan [70]UK201019PCD diagnostic centreCase seriesREM + VM+++
 Rachinskii [75]Russia199324PaediatricsCase seriesREM++++
 Rutishauser [76]Switzerland200030PaediatricsCase seriesREM + VM++++
 Vallet [81]France2013600–15Paediatric pulmonologyCase seriesREM + VM++++
 Wolter [84]Canada2012317 (0–17)ENTCase seriesREM + nNO++++
 Xu [85]China200826PaediatricsCase seriesREM+++
 Afzelius [47]Sweden198329PCD diagnostic centreCase seriesREM++
 Camner [56]#Sweden19832030 (19–40)Adult pulmonologyCase seriesRClinical diagnosis only+++
 Smit [77]Canada19962146 (24–66)Adult pulmonologyCase seriesREM + VM++
Children and adults
 Armengot [49]Spain20122528 (1–66)ENTCase seriesPEM + VM++++
 Armengot [50]Spain19951424 (5–50)ENTCase seriesPEM+++
 Bai [51]China20141035 (6–56)ENTCase seriesREM + nNO + genetics+++++
 Boon [39]Belgium201416818+PCD diagnostic centreCohortREM + VM + nNO + genetics+++++
 Braun [54]France200535ENTCase seriesREM + VM++++
 Chin [89]China2002730–48PathologyCase seriesREM + nNO++
de Boode [57]The Netherlands19893423 (6–55)PaediatricCase seriesREM + VM+++
 El-Sayed [58]Saudi Arabia19971618 (2–46)ENTCase seriesPEM++++
 Goyal [59]#India198711Adult pulmonologyCase seriesRClinical diagnosis only++++
 Greenstone [60]UK19883019 (0–51)CardiothoracicCase seriesPEM + VM++++
 Hellinckx [61]Belgium1998121–32Paediatric pulmonologyCase seriesREM + VM+
 Holzmann [62]Switzerland200010ENTCase seriesREM + VM++++
 Iñiguez [63]Chile200733ENTCase seriesREM+++
 Kawakami [64]Japan19964838 (17–72)Paediatric pulmonologyCase seriesREM+++
 Lesic [66]Austria200913PaediatricsCase seriesREM++++
 Marthin [67]Denmark20107419+ (6–70)PCD reference centreCase seriesREM + VM + nNO+++++
 McManus [43]#UK20039323 (4–66)PsychologyCase seriesP+++
 Montella [69]Italy20091315+ (10–29)PaediatricsCase seriesPEM + VM++++
 Mygind [42]#Denmark19832724 (4–56)ENTCase seriesPClinical diagnosis only++++
 Noone [2]USA20047827 (1–73)CombinationCase seriesPEM + VM + nNO+++++
 Oktem [71]Turkey20132910 (0–24)PaediatricsCase–controlPEM++
 Olm [72]Brazil20111212 (1–19)Paediatric pulmonologyCase seriesREM++++
 Pedersen [41]Denmark198327PaediatricsCase seriesPEM + VM++++++
 Pifferi [73]Italy20107821 (2–49)PaediatricsCase seriesPEM + VM++++
 Plesec [74]USA20081315 (1–49)PathologyCase seriesREM++++++
 Shapiro [45]USA20143518 (2–58)CombinationCase seriesREM + nNO + genetics+++++
 Sommer [78]#Germany20114429ENTCase seriesR++
 Sturgess [79]Canada198646PaediatricsCase seriesREM + genetics++++
 Tolusakow [80]#Russia1981233–43Adult pulmonologyCase seriesPClinical diagnosis only+++
van der Baan [82]The Netherlands19913625 (1–59)ENTCase seriesPEM + VM+
 Wang [83]China20092429 (4–63)RadiologyCase seriesREM+++++
 Yiallouros [86]Cyprus20153024 (1–64)PaediatricsCohortREM + VM + nNO++++
  • Data are presented as mean (range) or median (range) or range, unless otherwise stated. R: retrospective; EM: electron microscopy; nNO: nasal nitric oxide; P: prospective; VM: light or high-frequency video microscopy; ENT: ear, nose and throat. #: studies excluded from subgroup meta-analyses; : mean; +: median.