The objective of this study was to systematically analyze the cleft lip and/or palate (CL/P) literature published between 2000 and 2025 to identify dominant research themes, temporal trends, and potential gaps by applying a natural language processing-based topic modeling approach.
Design
We analyzed articles retrieved from the Scopus database and identified thematic clusters using the BERTopic algorithm, which integrates BERT embeddings, Uniform Manifold Approximation and Projection dimensionality reduction, and Hierarchical Density-Based Spatial Clustering of Applications with Noise clustering.
Setting
This study exclusively examined articles related to CL/P.
Patients/Participants
This study involved no patients or participants.
Interventions
Not applicable as this is a BERTopic-based analysis.
Main Outcome Measures
Outcomes included identifying dominant research topics, trend analysis, distribution across countries and journals, and classifying topics as “hot” or “cold” based on temporal trends.
Results
We identified 29 thematic clusters. The most common topics included “Velopharyngeal Dysfunction and Fistula Repair,” “Nonsyndromic Cleft Lip and Palate and Genetic Associations,” and “Unilateral Cleft Lip and Palate and Maxillofacial Asymmetry.” “Quality of Life and Psychosocial Impact in Children,” “Surgical Repair Approaches,” and “Presurgical Nasoalveolar Molding Techniques” emerged as “hot topics.” The United States led in publication volume, while certain topics dominated in specific countries. The Cleft Palate-Craniofacial Journal published the most articles.
Conclusions
This study provides a comprehensive thematic map of CL/P research, highlighting strengths and underexplored areas. BERTopic offers an efficient, scalable method for analyzing large-scale scientific literature and identifying future research priorities.
VyasTGuptaPKumarSGuptaRGuptaTSinghHP. Cleft of lip and palate: a review. J Family Med Prim Care. 2020;9(6):2621–2625. doi:10.4103/jfmpc.jfmpc_472_20
2.
StanierPMooreGE. Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. Hum Mol Genet.2004;13(suppl_1):R73–R81. doi:10.1093/hmg/ddh052
3.
VieiraAR. Unraveling human cleft lip and palate research. J Dent Res.2008;87(2):119–125. doi:10.1177/154405910808700202
4.
DixonMJMarazitaMLBeatyTHMurrayJC. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet. 2011;12(3):167–178. doi:10.1038/nrg2933
5.
MosseyPALittleJMungerRGDixonMJShawWC. Cleft lip and palate. Lancet.2009;374(9703):1773–1785.
6.
World Health Organization. Global Strategies to Reduce the Health-Care Burden of Craniofacial Anomalies. World Health Organization; 2002.
7.
Madrid-GarcíaAFreites-NúñezDMerino-BarbanchoBPérez SancristobalIRodríguez-RodríguezL. Mapping two decades of research in rheumatology-specific journals: a topic modeling analysis with BERTopic. Ther Adv Musculoskelet Dis.2024;16:1759720X–241308037. doi:10.1177/1759720X241308037
8.
GrootendorstM.BERTopic: Neural topic modeling with a class-based TF-IDF procedure. arXiv preprint arXiv:220305794. 2022;
9.
WuGNingHYuanY, ChenJ, LiG, LiuS, WangZ. Topic identification and content analysis of internet medical policies under the background of healthy China 2030. Health Res Policy and Syst. 2024;22(1):132. doi:10.1186/s12961-024-01226-3
10.
LiuYWanF. Unveiling temporal and spatial research trends in precision agriculture: a BERTopic text mining approach. Heliyon. 2024;10(17):e36808. doi:10.1016/j.heliyon.2024.e36808
11.
BirdSKleinELoperE. Natural Language Processing with Python: Analyzing Text with the Natural Language Toolkit. O'Reilly Media, Inc.; 2009.
12.
BursteinJDoranCSolorioT. Proceedings of the 2019 Conference of the North American Chapter of the Association for Computational Linguistics: Human Language Technologies, Volume 1 (Long and Short Papers). 2019.
13.
KarabacakMJagtianiPJainAPanovFMargetisK. Tracing topics and trends in drug-resistant epilepsy research using a natural language processing–based topic modeling approach. Epilepsia. 2024;65(4):861–872. doi:10.1111/epi.17890
14.
DekaPJurek-LoughreyAPadmanabhanD. Improved methods to aid unsupervised evidence-based fact checking for online health news. J Data Intell. 2022;3(4):474–505.
McInnesLHealyJMelvilleJ. Umap: Uniform manifold approximation and projection for dimension reduction. arXiv preprint arXiv:180203426.2018.
17.
MengFLuZLiX, HanW, PengJ, LiuX, NiuZ. Demand-side energy management reimagined: a comprehensive literature analysis leveraging large language models. Energy. 2024;291:130303.
18.
McInnesLHealyJhdbscanAS. Hierarchical density based clustering. J Open Source Softw. 2017;2(11):205.
19.
CampelloRJGBMoulaviDSanderJ.Density-based clustering based on hierarchical density estimates. In Pacific-Asia Conference on Knowledge Discovery and Data Mining. Berlin, Heidelberg: Springer Berlin Heidelberg; 2013:160–172.
20.
LeeKChungYKimJS. Research trends on metabolic syndrome in digital health care using topic modeling: systematic search of abstracts. J Med Internet Res. 2024;26:e53873. doi:10.2196/53873
21.
DouglasTCapraLMusolesiM. A computational linguistic approach to study border theory at scale. Proc ACM Hum-Comput Interact. 2024;8(CSCW1):1–23.
22.
BittermannAFischerA. How to identify hot topics in psychology using topic modeling. Zeitschrift fur Psychologie / J Psychol. 2018;226(1):3–13. doi:10.1027/2151-2604/a000318
23.
KarabacakMMargetisK. Natural language processing reveals research trends and topics in the spine journal over two decades: a topic modeling study. Spine J.2024;24(3):397–405.
24.
WijantoMCWidiastutiI. Topic modeling for scientific articles: exploring optimal hyperparameter tuning in BERT. Int J Adv Sci Eng Inf Technol. 2024;14(3):912–919.
25.
WuYWangXMaLLiZ. Velopharyngeal configuration changes following Le fort I osteotomy with maxillary advancement in patients with cleft lip and palate: a cephalometric study. Cleft Palate Craniofac J.2015;52(6):711–716.
26.
YangYLiYWuY, GuY, YinH, LongH, ShiB, ZhengQ. Velopharyngeal function of patients with cleft palate after primary palatoplasty: relevance of sex, age, and cleft type. J Craniofac Surg. 2013;24(3):923–928. doi:10.1097/SCS.0b013e3182587b34
27.
SommerladBCMehendaleFVBirchMJSellDHatteeCHarlandK. Palate re-repair revisited. Cleft Palate Craniofac J. 2002;39(3):295–307. doi:10.1597/1545-1569_2002_039_0295_prrr_2.0.co_2
28.
GeismanMMSkolnickGBGramesLMNaidooSDSnyder-WarwickAKPatelKB. Impact of a palatal fistula after cleft palate repair on velopharyngeal closure. Cleft Palate Craniofac J. 2024;61(1):61–67.
29.
BelcherRDeshpandeAGoudyS. State of the art in treating velopharyngeal dysfunction. Facial Plast Surg. 2016;32(2):156–161. doi:10.1055/s-0036-1581048
30.
BabuEGhoshPSarikaKJamesAVarmaNSAjithV. Evaluation of pharyngeal airway changes & velopharyngeal function following Le-fort I osteotomy in cleft lip and palate patients—a systematic review & meta analysis. J Oral Biol Craniofac Res.2025;15(4):837–848.
31.
de BlacamCSmithSOrrD. Surgery for velopharyngeal dysfunction: a systematic review of interventions and outcomes. Cleft Palate Craniofac J. 2018;55(3):405–422. doi:10.1177/1055665617735102
32.
BellRCowanKMarstonAP. Metanalysis of alloplastic materials versus autologous fat for injection augmentation pharyngoplasty treatment of velopharyngeal insufficiency. Int J Pediatr Otorhinolaryngol.2021;146:110738.
33.
NasserMFedorowiczZNewtonTNouriM. Interventions for the management of submucous cleft palate. Cochrane Database Syst Rev. 2008(1):CD006703.
34.
NeumannSRomonathR. Effectiveness of nasopharyngoscopic biofeedback in clients with cleft palate speech—A systematic review. Logoped Phoniatr Vocol. 2012;37(3):95–106.
35.
SalariNDarvishiNHeydariMBokaeeSDarvishiFMohammadiM. Global prevalence of cleft palate, cleft lip and cleft palate and lip: a comprehensive systematic review and meta-analysis. J Stomatol Oral Maxillofac Surg. 2022;123(2):110–120.
36.
KouskouraTFragouNAlexiouM, JohnN, SommerL, GrafD, KatsarosC, MitsiadisTA. The genetic basis of craniofacial and dental abnormalities. Schweizer Monatsschrift für Zahnmedizin SMfZ. 2011;121(7-8):636–646.
37.
WangYJiaXQiaoY, XuL, ZhangX, liQ, WangP, SunW, WuJ. Association between nonsyndromic cleft lip and palate and 2 polymorphic loci: a meta-analysis. Cleft Palate Craniofac J. 2021;58(6):763–772.
38.
Al-RudainyDJuXMehendaleFVAyoubA. Longitudinal 3D assessment of facial asymmetry in unilateral cleft lip and palate. Cleft Palate Craniofac J. 2019;56(4):495–501.
39.
LindenOETaylorHOVasudavanS, ByrneME, DeutschCK, MullikenJB, SullivanSR. Three-dimensional analysis of nasal symmetry following primary correction of unilateral cleft lip nasal deformity. Cleft Palate Craniofac J. 2017;54(6):715–719.
40.
MangoldELudwigKUBirnbaumS, BaluardoC, FerrianM, HermsS, ReutterH, AssisNA, ChawaTA, MattheisenM, et al.Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet. 2010;42(1):24–26.
41.
BeatyTHMurrayJCMarazitaML, MungerRG, RuczinskiI, HetmanskiJB, LiangKY, WuT, MurrayT, FallinMD, et al.A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet. 2010;42(6):525–529.
42.
BergerZEDaltonLJ. Coping with a cleft: psychosocial adjustment of adolescents with a cleft lip and palate and their parents. Cleft Palate Craniofac J.2009;46(4):435–443.
43.
SnyderHPopeAW. Psychosocial adjustment in children and adolescents with a craniofacial anomaly: diagnosis-specific patterns. Cleft Palate Craniofac J.2010;47(3):264–272.
44.
YuQGongXWangG-MYuZ-YQianY-FShenG.A novel technique for presurgical nasoalveolar molding using computer-aided reverse engineering and rapid prototyping. J Craniofac Surg. 2011;22(1):142–146.
45.
ZhengJHeHKuangWYuanW. Presurgical nasoalveolar molding with 3D printing for a patient with unilateral cleft lip, alveolus, and palate. Am J Orthod Dentofacial Orthop.2019;156(3):412–419.
46.
BatraPGribelBFAbhinavBAroraARaghavanS. Orthoaligner “NAM”: a case series of presurgical infant orthopedics (PSIO) using clear aligners. Cleft Palate Craniofac J.2020;57(5):646–655.
47.
GongXDangRXuTYuQZhengJ. Full digital workflow of nasoalveolar molding treatment in infants with cleft lip and palate. J Craniofac Surg. 2020;31(2):367–371.
HathawayRDaskalogiannakisJMercadoA, RussellK, LongRE, CohenM, SembG and ShawW. The Americleft study: an inter-center study of treatment outcomes for patients with unilateral cleft lip and palate part 2. Dental arch relationships. Cleft Palate Craniofac J. 2011;48(3):244–251.
50.
ZhangQYueYShiBYuanZ. A bibliometric analysis of cleft lip and palate-related publication trends from 2000 to 2017. Cleft Palate Craniofac J.2019;56(5):658–669.
51.
SennimalaiKSelvarajMSameemullahKH, GothankarG.S, SiddiquiHP, AroraG, MohaideenK. Research trends in presurgical infant orthopaedic treatment in patients with cleft lip and palate: a bibliometric analysis of 100 most-cited articles. Cleft Palate Craniofac J. 2024;10556656241285812.
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