Genetic/chromosomal syndromes and orthodontics: treatment efficacy and literature review

OBJECTIVES Chromosomal diseases are caused by changes in the number or structure of chromosomes. Ge-netic diseases are caused by mu-tations in a single gene. Oral health is an important component of individual well-being and, in case of serious functional and aesthetic alterations, as happens in people with chromosomal and genetic syndromes, it plays a fun-damental role not only for the pa-tient but also for the family. This paper aims to deepen the ortho-dontic characteristics of genetic/ chromosomal syndromes through a narrative review of the literature; a case-control retrospective study evaluated effectiveness, complex-ity and duration of orthodontic treatment in children with chro-mosomal or genetic syndromes. MATERIALS AND METHODS Orthodontic records of 104 chil-dren with special healthcare needs (SHCN) and 104 ASA 1 children (NO SHCN) were includ-ed. Healthy children were matched by gender, age and type of orthodontic treatment. Medical history, gender, date of birth, type of orthodontic appli-ance (fixed and/or removable), number of "simple" and "com-plex" appointments, start and end date of orthodontic treatment. Peer Assessment Rating (PAR) was used to assess the occlusal improvement between pre-and post-treatment. The Dental Health Component (DHC) of the Orthodontic Treat-ment Need Index (IOTN) was ap-plied to evaluate the need for treatment. To assess the aesthetic improvement, the AC component of the IOTN was used. Mann-Whit-ney U test was used to compare treatment duration, reduction in PAR, DHC, and AC scores be-tween the SHCN group and the NO SHCN group. The intra-exam- iner reliability was assessed by re-assigning the scores of the differ-ent indices on a random sample of ten dental casts and ten photo-graphs, for both the study group and the control group, after six weeks (Cohen's Kappa = 0.85: excellent reliability). The chi-squared test was used to com-pare the number of "simple" and "complex" sessions. RESULTS The overall duration of treatment in the SHCN group (29.3 & PLUSMN; 2.5) was significantly longer than in the NO SHCN group (21 .4 & PLUSMN; 3.8) with a greater number of "com-plex" sessions in the SHCN group. PAR, DHC, and AC scores, both prior and after treatment, were highest in the SHCN group (p <0.05). The difference in PAR, DHC and AC scores prior and post treatment did not differ sig-nificantly between the two groups. CONCLUSIONS SHCN children have a strong need for orthodontic care, as evi-denced by the high values of the PAR, DHC and AC indices. Dis-ability must not be considered as an obstacle to an effective treat-ment, although it reduces its ef-fectiveness in terms of duration of therapy. CLINICAL SIGNIFICANCE In SHCN children the prevalence of orthopedic-orthodontic pa-thologies is high, determined by genetic factors related to the syndrome and aggravated by constant environmental factors, as generalized muscular hypoto-nia and oral habits. Clinical cas-es are characterized by high complexity of clinical manage-ment and important aesthetic ef-fects. Therefore, less satisfacto-ry results of orthodontic treat-ment are expected in this popu-lation group. In consideration of the long treatment time, the primary goal of orthodontists and parents is the achievement of functional results, often of orthopedic rele-vance, subordinating the aes-thetic aspect. The management of home oral hygiene, which is not always optimal, represents a further obstacle to achieving op-timal aesthetic results, inducing the orthodontist to reduce the duration of therapy to prevent dental caries and periodontitis. The results of the present study encourage orthodontists to im-plement the treatment of children with SHCN.