The impact of orofacial clefts on quality of life and healthcare use and costs

Orofacial clefts are common birth defects that may impose a large burden on the health, quality of life, and socioeconomic well-being of affected individuals and families. They also result in significant healthcare use and costs. Understanding the impact of orofacial clefts on these outcomes is important for identifying unmet needs and developing public policies to reduce the burden of orofacial clefts at the individual, family and societal levels. This paper reviews and summarizes the main findings of recent studies that have evaluated the impact of orofacial clefts on these outcomes, with a focus on quality of life, socioeconomic outcomes, long-term health, and healthcare use and costs. Several studies identify an increased burden of orofacial clefts on these outcomes, but some of the findings are inconsistent. A summary of the primary limitations of the studies in this area is presented, along with recommendations and directions for future research.     

Replication of two novel susceptibility loci for non‐syndromic orofacial clefts in a Chinese population

Oral Diseases (2011) 17 , 304–308 Objectives: Non‐syndromic orofacial clefts (NSOC) are the most common developmental disorders in human beings. Recently, two genome‐wide association studies in European Caucasians identified three novel NSOC susceptibility loci: rs987525 on 8q24, rs7078160 on 10q25.3, and rs223371 on 17q22. The aim of this study was to determine the association of these polymorphisms with NSOC susceptibility and its subgroups in a Chinese Han population. Material and methods: In this study, 199 NSOC patients and 210 healthy individuals were recruited. SNP rs987525 was not genotyped because of its low frequency in the study subjects. The other two polymorphisms (rs7078160 and rs223371) were respectively genotyped by polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) and Taqman‐MGB assay. Results: Overall genotype distributions of rs7078160 and rs223371 polymorphisms were consistent with Hardy–Weinberg equilibrium test. The allele and genotype frequencies of the two polymorphisms were not significantly different between cases and controls. Further analysis indicated that none of the genotypes was associated with increased risk of NSOC. Similar results were also found when all cleft cases were stratified by cleft types. Conclusion: Our findings are consistent with a lack of involvement of the rs7078160 and rs223371 polymorphisms in the development of NSOC in the Chinese Han population.     

Quality of life and family functioning in children with nonsyndromic orofacial clefts at preschool ages

Children with orofacial clefts (OFC) at preschool ages may have to tolerate psychosocial disadvantages due to their altered speech and facial appearance probably affecting their quality of life (QoL) and family functioning. In 147 children with OFC aged between 5 and 6 years and their families, the QoL and family functioning were analyzed using the KINDL questionnaire for measuring health-related QoL in children and impact on family scale. The KINDL scores were lowest in the dimension self-esteem. In all dimensions, the KINDL scores of children were higher than those of the parents suggesting a superior QoL than the caregivers estimated (P<0.001). In affected families, the impact on family scale dimensions personal impact and impact on coping strategies were found highest. Families having children with isolated cleft lip or cleft lip and palate had higher impacts on coping strategies when compared with children having isolated cleft palate (P<0.041). The impact for siblings (P<0.02) was found highest in patients with cleft lip and palate. In all examined dimensions, children with OFC perceived a higher QoL than their caregivers expected. However, self-esteem seems to be problematic in all types of OFC and in both genders. Knowledge of potential impacts related to the type of cleft and the gender of the patient will probably facilitate health care professionals to identify children and families at high risk to experience a reduced QoL and may help to offer specific support and treatment strategies.     

An analysis of quality of life in 130 families having small children with cleft lip/palate using the impact on family scale

Most parents are emotionally traumatized when confronted by the birth of a baby with an orofacial cleft (OFC). Affected families may have to compensate for increased financial, social and personal impacts before primary treatment is completed. This study was conducted to identify factors influencing the quality of life (QoL) of families having young children with OFC. A self-administered questionnaire containing the impact on family scale was applied in 130 consecutive families having children with OFC aged between 6 and 24 months. The results were related to the type of cleft and the time of initial diagnosis using non-parametric tests and multivariate correlation analysis (P<0.05). In families having children with isolated cleft lip, financial and social impacts were reduced, but problems in coping were increased when compared to families with children having cleft lip and palate or isolated cleft palate. Total impact was highest in families having children with isolated cleft palate, probably due to later surgery for reconstruction. Prenatal diagnosis of OFC did not reduce the general impact on affected families, but increased the social impact. The relation of certain impacts to distinct types of cleft might allow more tailored support of affected families and improve their QoL.     

AXIS inhibition protein 2, orofacial clefts and a family history of cancer

BackgroundCancer and congenital malformations occasionally may have acommon etiology. The authors investigated whether families with one or more members affected by orofacial clefts (that is, families segregating orofacial clefts) had an increased cancer incidence when compared with control families.MethodsThe authors assessed 75 white families with nonsyndromic cleft lip with or without cleft palate (CL/P) and 93 white control families regarding a history of cancer. They used χ² and Fisher exact tests to determine significant differences. They then performed molecular studies with genes in which mutations have been independently associated with both cancer and craniofacial anomalies in a total of 111 families with CL/P.ResultsThe families with CL/P reported a family history of cancer more often than did control families (P <.001), and they had higher rates of specific cancer types: colon (P <.001), brain (P = .003), leukemia (P = .005), breast (P = .009), prostate (P = .01), skin (P = .01), lung (P = .02) and liver (P = .02). The authors detected overtransmission of AXIS inhibition protein 2 (AXIN2) in CL/P probands (P = .003).ConclusionFamilies segregating CL/P may have an increased susceptibility to cancer, notably colon cancer. Furthermore, AXIN2, a gene that when mutated increases susceptibility to colon cancer, also is associated with CL/P.Clinical ImplicationsPeople who are at a higher risk of developing disease need to adopt a healthier lifestyle, including avoiding exposure to risk factors that may interact with their genotypes.     

The psychosocial impact of orofacial pain in trigeminal neuralgia patients: a systematic review

Trigeminal neuralgia (TN) is characterized by sharp, electric shock-like pain, which can be triggered by trivial stimuli. Although medical and surgical treatments are available for TN, some patients experience refractory pain, which has a significant impact on their quality of life. The aim of this systematic review was to determine the psychosocial impact of orofacial pain in patients with diagnosed TN. A search was initiated in three electronic databases (Embase, MEDLINE, PubMed) to identify potential studies for inclusion in the review. All types of study published in English that reported psychosocial measures using validated psychometric questionnaires were included. A total of 585 articles were retrieved from the search. These were screened thoroughly, leading to the selection of 13 articles for data extraction and final analysis. The results show the chronic overwhelming nature of TN, with pain levels varying from mild to severe. Psychometric scores indicated mild to moderate depression, moderate to severe anxiety, and moderate to severe functional limitation of daily life activities in TN patients. Therefore, psychological support within a multidisciplinary team is recommended for TN patients to help them cope better with their chronic disorder and to improve the efficacy of treatment.     

Quality of life and psychological well‐being among endodontic patients: a case‐control study

Background: Much is already known about the consequences of endodontic disease from clinicians’ perspectives; a significant omission is an understanding from patients’ perspectives. This study aimed to determine oral health‐related quality of life (OHQoL) and psychological distress among subjects referred for endodontic care compared to patients in periodontal maintenance. Methods: This was a case‐control study involving 200 patients; 100 patients requiring endodontic treatment and 100 control subjects (periodontal maintenance patients). OHQoL was assessed using the short form Oral Health Impact Profile measure (OHIP‐14) and psychological well‐being using the short form of the General Health Questionnaire (GHQ‐12). Variations in OHIP‐14 and GHQ‐12 scores between the ‘case’ and ‘control’ group were determined, and the magnitude of such differences through effect size (ES) calculations. Results: There were significant differences in OHIP‐14 summary scores between the case and control groups (p < 0.001) and significant differences across all seven domain scores (p < 0.05). The ES was moderate (0.63) with respect to summary OHIP‐14 scores. There were also significant differences in GHQ‐12 scores between the case and control groups (p < 0.05), but the ES was small (0.36). Conclusions: OHQoL and psychological well‐being is compromised among patients seeking endodontic treatment, and to a greater magnitude than patients in periodontal maintenance.     

Haplotype‐based gene–gene interaction of bone morphogenetic protein 4 and interferon regulatory factor 6 in the etiology of non‐syndromic cleft lip with or without cleft palate in a Chilean population

Non‐syndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial birth defect in humans, the etiology of which can be dependent on the interactions of multiple genes. We previously reported haplotype associations for polymorphic variants of interferon regulatory factor 6 (IRF6), msh homeobox 1 (MSX1), bone morphogenetic protein 4 (BMP4), and transforming growth factor beta 3 (TGFB3) in Chile. Here, we analyzed the haplotype‐based gene–gene interaction for markers of these genes and NSCL/P risk in the Chilean population. We genotyped 15 single nucleoptide polymorphisms (SNPs) in 152 Chilean patients and 164 controls. Linkage disequilibrium (LD) blocks were determined using the Haploview software, and phase reconstruction was performed by the Phase program. Haplotype‐based interactions were evaluated using the multifactor dimensionality reduction (MDR) method. We detected two LD blocks composed of two SNPs from BMP4 (Block 1) and three SNPs from IRF6 (Block 2). Although MDR showed no statistical significance for the global interaction model involving these blocks, we found four combinations conferring a statistically significantly increased NSCL/P risk (Block 1–Block 2): T‐T/T‐G C‐G‐T/G‐A‐T; T‐T/T‐G C‐G‐C/C‐G‐C; T‐T/T‐G G‐A‐T/G‐A‐T; and T‐T/C‐G G‐A‐T/G‐A‐T. These findings may reflect the presence of a genomic region containing potential causal variants interacting in the etiology of NSCL/P and may contribute to disentangling the complex etiology of this birth defect.