Modern approach to surgical treatment of congenital cleft palate in DiGeorge syndrome



This article discusses modern approaches to the surgical treatment of congenital cleft palate in DiGeorge syndrome. The aim of the work is to analyze modern surgical approaches in patients with congenital del 22q11.2 syndrome.

Keywords: anomaly, surgery, cleft, operation, DiGeorge's syndrome.

Introduction. 22q11.2 deletion syndrome (DS), also known as DiGeorge or velocardiofacial syndrome, is one of the most common human microdeletion syndromes. It occurs in 1 in 3000–6000 births and is evenly distributed between males and females [1]. In this case, abnormal development of the third and fourth arches of the pharynx occurs. As a result, there are congenital palatal abnormalities and later diseases such as gastrointestinal, renal disorders, autoimmune diseases, variable cognitive delays, behavioral phenotypes and mental illness [2].

Despite the prevalence of the disease, the lack of self-recognition of the condition by the patient, lack of knowledge of genetic testing methods, lack of earlier medical consultation, and wide variability in clinical presentation delay diagnosis. Dealing with the recovery of such patients requires a multidisciplinary approach, including pediatrics, general medicine, surgery, psychiatry, psychology, interventional therapy (physical, occupational, speech, language and behavioral)and genetic counseling.

Objective. To analyze the current literature data of domestic and foreign authors for 2012–2022 concerning the surgical treatment of cleft palate in DiGeorge syndrome.

Materials and methods. A review of 12 literature sources over the past 10 years was carried out, including up-to-date information on modern approaches to the treatment of congenital cleft palate.

Work results. The treatment and management of patients with DiGeorge syndrome requires intensive interprofessional care. The main care for patients should be aimed at eliminating the defect of the palatine cleft in order to achieve an aesthetic effect, improve the ability to eat, speech, and reduce the incidence of infection.

Natsume N. from Japan presented data from a survey of 377 patients, where he proposed to classify the affected areas into three types: only cleft lip, only cleft palate, and their combination. On the basis of the classification, he built a model of 17 segments, which served as the choice of tactics for surgical treatment, as well as confirmation of the independence of cleft lip from cleft palate.

Sharif F. (2015) with his team adhered to the anatomical canons of the development of the children's skull and performed surgical interventions taking into account the maturity of the functional growth centers to obtain a successful result, both in physiological and aesthetic terms. To achieve his goals, the author considered autografts to be the best solution, but they have a number of disadvantages: transplant rejection, the development of infectious complications, vascular damage and pain. There is a need to use synthetic materials, as they have a number of advantages.

In 2016, Dao AM and Goudy SL argued that primary gingivo-periosteoplasty is not sufficient and secondary bone grafting is often required, selected based on cleft classification, cleft width, and surgeon experience and preference.

Davydov B. N. offers early treatment of congenital cleft palate, resorting to less traumatic manipulations to prevent the formation of gross maxillofacial deformities using both one-stage and two-stage sparing methods of palate plasty. In the Davydov method during veloplasty, the shedding of the tendons of the muscles that strain the soft palate is excluded, so 30 people were operated on with it. According to the results, all have no underdevelopment of the upper jaw and early speech formation occurs.

Findings. Our work highlights the importance of knowledge about this relatively common genetic condition. Diagnosis of DiGeorge syndrome at an early age increases the chances of timely treatment.

Although there is insufficient clinical data on the effectiveness of new osteogenic biomaterials for cleft lip and palate, their availability offers hope that the number of painful procedures that currently dominate the childhood of CLLP patients can be both reduced and simplified. The management of clefts is expected to continue to evolve with advances in tissue engineering, genetics, and fetal surgery.

References:

1. Kraus C, Vanicek T, Weidenauer A, et al. DiGeorge syndrome: Relevance of psychiatric symptoms in undiagnosed adult patients. Wien Klin Wochenschr . 2018;130(7–8):283–287. doi:10.1007/s00508–018–1335-y
2. McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers . 2015;1:15071. Published 2015 Nov 19. doi:10.1038/nrdp.2015.71
3. Arosarena OA. Cleft lip and palate. Otolaryngol Clin North Am . 2007;40(1):27-vi. doi:10.1016/j.otc.2006.10.011
4. Dao AM, Goudy SL. Cleft Palate Repair, Gingivoperiosteoplasty, and Alveolar Bone Grafting. Facial Plast Surg Clin North Am . 2016;24(4):467–476. doi:10.1016/j.fsc.2016.06.005
5. Davies EG. Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. Front Immunol . 2013;4:322. Published 2013 Oct 31. doi:10.3389/fimmu.2013.00322
6. Jonas RK, Montojo CA, Bearden CE. The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan. Biol Psychiatry . 2014;75:351–360. doi: 10.1016/j.biopsych.2013.07.019.
7. Lackey AE, Muzio MR. DiGeorge Syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing ; August 11, 2021.
8. Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet. 2000;9:2421–2426. doi: 10.1093/hmg/9.16.2421.
9. Sharif F, Ur Rehman I, Muhammad N, MacNeil S. Dental materials for cleft palate repair. Mater Sci Eng C Mater Biol Appl. 2016;61:1018–1028. doi:10.1016/j.msec.2015.12.019
10. Shkoukani MA, Lawrence LA, Liebertz DJ, Svider PF. Cleft palate: a clinical review. Birth Defects Res C Embryo Today. 2014;102(4):333–342. doi:10.1002/bdrc.21083
11. Ysunza PA, Pamplona MC, Repetto G. Cleft Palate, Interdisciplinary Diagnosis, and Treatment. Biomed Res Int . 2015;2015:701850. doi:10.1155/2015/701850
12. Early surgical treatment of congenital cleft palate / B. N. Davydov, A. B. Suleymanov, V. V. Petrunichev, V. V. Lubashevsky // Proceedings of the Scientific and Practical Conference of the Central Federal District of the Russian Federation with international participation «Dental and somatic diseases in children: etiopathogenetic aspects of their relationships, features of prevention, diagnosis and treatment», Tver, December 12–13, 2013 / Russian Academy of Medical Sciences Dental Association of Russia Coordinating Health Council of the Central Federal District Central Research Institute of Dentistry and Maxillofacial Surgery Research Institute of Pediatrics and Pediatric Surgery Moscow State University of Medicine and Dentistry Government of the Tver Region Tver State Medical Academy. — Tver: State Budgetary Educational Institution of Higher Professional Education Tver State Medical Academy of the Ministry of Health of the Russian Federation, 2013. — P. 64–68. — EDN SFZKMJ