Pyschosocial and Quality of Life Outcomes in Paediatric Patients Wih Craniofacial Deformities in Children: A Systemaic Review
DOI:
https://doi.org/10.63682/jns.v14i4S.1810Keywords:
Craniofacial deformities, Genetic factors, Surgical intervention, Multidisciplinary approach, Quality of lifeAbstract
Craniofacial deformities in children encompass a broad spectrum of congenital and acquired conditions that impact the bones and soft tissues of the head and face. These abnormalities can arise from genetic factors, environmental influences, or disruptions during development. As a result, they can lead to structural changes in the skull, face, or both, causing challenges in areas such as breathing, feeding, speech, and hearing. Common conditions include craniosynostosis, cleft lip and palate, facial asymmetry, and syndromic disorders like Treacher Collins syndrome and Apert syndrome. Early diagnosis and timely treatment are essential to maximize functional abilities and improve aesthetic results. Treatment usually involves a multidisciplinary approach, incorporating surgery, speech therapy, orthodontics, and hearing interventions. Surgical interventions, particularly for conditions like craniosynostosis and cleft lip/palate, are typically carried out during infancy or early childhood to prevent developmental setbacks and improve the child's overall quality of life. This review offers a detailed overview of different craniofacial deformities, their clinical features, and current diagnostic and treatment strategies, emphasizing the critical role of early intervention and comprehensive care for affected children.
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Miller CK. Feeding issues and interventions in infants and children with clefts and craniofacial syndromes. Semin Speech Lang. 2011; 32(2):115-26.
Buchenau W, Wenzel S, Bacher M, Müller-Hagedorn S, Arand J, Poets CF. Functional treatment of airway obstruction and feeding problems in infants with Robin sequence. Arch Dis Child Fetal Neonatal Ed. 2017; 102(2):F142-F146.
Glynn F, Fitzgerald D, Earley MJ, Rowley H. Pierre Robin sequence: an institutional experience in the multidisciplinary management of airway, feeding and serous otitis media challenges. Int J Pediatr Otorhinolaryngol. 2011; 75(9):1152-5.
Miller CK, Willging JP. The implications of upper-airway obstruction on successful infant feeding. Semin Speech Lang. 2007; 28(3):190-203.
Marañés Gálvez C, Martínez Plaza A, Fernández Valadés R, Liceras Liceras E, Martín Cano F, Cortés Sánchez R, Martínez Tellería A, Cabello A, García Medina B. Mandibular distraction osteogenesis in patients with craniofacial malformation. Cir Pediatr. 2011; 24(2):102-8.
Liao M, Wang L, Shang N, Hu X, He B, Liu X, Xiang G, Zhong W. Ultrasound measurements of fetal facial profile markers and their associations with congenital malformations during early pregnancy. BMC Pregnancy Childbirth. 2023; 23(1):772.
Becker SS, Brown DL, Ziegler MA. The role of 3D imaging in planning craniofacial surgeries: A comparative study. J Craniofac Surg. 2019; 30(8):2225-2229.
Gasparin M, Barth FL, Pauletti LF, Simon MISDS, da Nóbrega Figueiredo RI, Schweiger C, Levy DS, Marostica PJC. Therapeutic Management with Airway Clearance in Children with Robin Sequence and Association with Swallowing Outcomes: A Systematic Review and Meta-analysis. Dysphagia. 2023; 38(5):1267-1276.
Wiechers C, Thjen T, Koos B, Reinert S, Poets CF. Treatment of infants with craniofacial malformations. Arch Dis Child Fetal Neonatal Ed. 2021; 106(1):104-109.
Blanton SH, Cortez A, Stal S, Mulliken JB, Finnell RH, Hecht JT. Variation in IRF6 contributes to nonsyndromic cleft lip and palate. Am J Med Genet. 2005; 137A:259-62.
Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet. 2011; 12(3):167-78.
Etheredge AJ, Christensen K, Del Junco D, Murray JC, Mitchell LE. Evaluation of two methods for assessing gene-environment interactions using data from the Danish case-control study of facial clefts. Birth Defects Res A Clin Mol Teratol. 2005; 73(8):541-6.
Jezewski PA, Vieira AR, Nishimura C, Ludwig B, Johnson M, O'Brien SE, et al. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet. 2003; 40(6):399-407.
Jia Z, Li Y, Li L, Wu J, Zhu LY, Yang C, et al. Association among IRF6 polymorphism, environmental factors, and nonsyndromic orofacial clefts in Western China. DNA Cell Biol. 2009; 28(5):249-57.
Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, et al. Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia. PLoS One. 2009;4:e5385.
Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002; 32(2):285-9.
Kwan WM, Abdullah VJ, Liu K, van Hasselt CA, Tong MC. Otitis media with effusion and hearing loss in Chinese children with cleft lip and palate. Cleft Palate Craniofac J. 2011; 48(6):684-9.
Marazita ML, Lidral AC, Murray JC, Field LL, Maher BS, Goldstein McHenry T. Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results. Hum Hered. 2009; 68(3):151-70.
Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. Cleft lip and palate. Lancet. 2009; 374(9703):1773-85.
Murray JC. Face facts: genes, environment and clefts. Am J Hum Genet. 1995; 57(2):227-32.
Nakatsuka K, Adachi T, Kato T, Murakami M, Yamada M, Masuda Y. Asymmetric lip-closing forces in children with repaired unilateral cleft lip and/or palate. J Oral Rehab. 2011; 38(12):921-8.
Riley BM, Mansilla MA, Ma J, Daack-Hirsch S, Maher BS, Raffensperger LM, et al. Impaired FGF signaling contributes to cleft lip and palate. Proc Natl Acad Sci U S A. 2007; 104(11):4512-7.
Shaw GM, Wasserman CR, Lammer EJ, O'Malley CD, Murray GC, Basart AM, et al. Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants. Am J Hum Genet. 1996;58(3):551-61.
Slayton RL, Williams L, Murray JC, Wheeler JJ, Lidral AC, Nishimura CJ. Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region. Cleft Palate Craniofac J. 2003;40(3):274-9.
Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park J, et al. Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations. Eur J Hum Genet. 2009;17(6):831-9.
Tang W, Du X, Feng F, Long J, Lin Y, Li P, et al. Association analysis between the IRF6 G820A polymorphism and nonsyndromic cleft lip and/or palate in a Chinese population. Cleft Palate Craniofacial J. 2009;46(1):89-92.
Freitas JA, das Neves LT, de Almeida AL, Garib DG, Trindade-Suedam IK, Yaedú RY, Lauris Rde C, Soares S, Oliveira TM, Pinto JH. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP)--Part 1: overall aspects. Cleft Palate Craniofac J. 2012; 49(3): 268-275.
Van den Boogaard MJ, Costa D, Krapels IP, Liu F, van Duijn C, Sinke RJ, et al. The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts. Hum Genet. 2008; 124(5):525-34.
Vieira AR. Unraveling human cleft lip and palate research. J Dent Res. 2008; 87(2):119-25.
Munger RG, Romitti PA, Daack-Hirsch S, Burns TL, Murray JC, Hanson J. Maternal alcohol use and risk of orofacial cleft birth defects. Teratology. 1996; 54(1):27–33.
Ysunza A, Carmen Pamplona M, Santiago Morales MA. Velopharyngeal valving during speech, in patients with velocardiofacial syndrome and patients with non-syndromic palatal clefts after surgical and speech pathology management. Int J Pediatr Otorhinolaryngol. 2011;75(10):1255-9.
Agrawal D, Steinbok P, Cochrane DD. Long-term anthropometric outcomes following surgery for isolated sagittal craniosynostosis. J Neurosurg. 2006; 105(5 Suppl):357-60.
Governale LS. Craniosynostosis. Pediatr Neurol. 2015; 53(5):394-401.
Cielo CM, Montalva FM, Taylor JA. Craniofacial disorders associated with airway obstruction in the neonate. Semin Fetal Neonatal Med. 2016; 21(4):254-262.
Worley ML, Patel KG, Kilpatrick LA. Cleft lip and palate. Clin Perinatol. 2018; 45(4):661-678.
Iyer J, Hariharan A, Cao UMN, Tran SD. Acquired facial, maxillofacial, and oral asymmetries—A review highlighting diagnosis and management. Symmetry. 2021; 13(9):1661.
ten Berge D, Brouwer A, el Bahi S, Guenet JL, Robert B, et al. Mouse Alx3: an aristaless-like homeobox gene expressed during embryogenesis in ectomesenchyme and lateral plate mesoderm. Dev Biol. 1998;199(1):11-25.
Beverdam A, Brouwer A, Reijnen M, Korving J, Meijlink F. Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice. Development. 2001;128(20):3975-86.
Mukherjee K, Burglin TR. Comprehensive analysis of animal TALE homeobox genes: new conserved motifs and cases of accelerated evolution. J Mol Evol. 2007; 65(2):137-53.
Cappella A, Gaffuri F, Yang J, Tartaglia FC, Solazzo R, Inchingolo F, Tartaglia GM, Sforza C. Volumetric Analyses of Dysmorphic Maxillofacial Structures Using 3D Surface-Based Approaches: A Scoping Review. J Clin Med. 2024; 13(16):4740.
Garne E, Tan J, Damkjaer M, Ballardini E, Cavero-Carbonell C, Coi A, Garcia-Villodre L, Gissler M, Given J, Heino A, et al. Hospital length of stay and surgery among European children with rare structural congenital anomalies—a population-based data linkage study. Int J Environ Res Public Health. 2023; 20(5):4387.
Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, et al. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. New Engl J Med. 2004; 351(8):769-80.
Mulliken JB. The changing faces of children with cleft lip and palate. N Engl J Med. 2004; 351(8):745-7.
Chakravarti A. Finding needles in haystacks--IRF6 gene variants in isolated cleft lip or cleft palate. N Engl J Med. 2004; 351(8):822-4.
Scapoli L, Palmieri A, Martinelli M, Pezzetti F, Carinci P, Tognon M, Carinci F. Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. Am J Hum Genet. 2005; 76(1):180-3.
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