Objective The study was conducted to determine the epidemiology and clinical profile of individuals with cleft lip and/or palate (CLP) utilizing specialized academic treatment centres in South Africa’s public health sector. Materials and methods The Human Research Ethics Committee of the University of the Witwatersrand in Johannesburg provided ethical approval for the study. We conducted a retrospective record review of all cases of CLP treated at the specialised academic centres for the two-year period from 1 January 2013 until 31 December 2014. We used a structured, pre-tested record review form to obtain demographic, clinical and treatment information on each CLP case. We used Stata 13 to analyse the data and conducted statistical tests at 5% significance level. Results We analysed 699 records of individuals with CLP. The estimated prevalence of CLP in the South African public health sector was 0.3 per 1000 live births, with provincial variation of 0.1/1000 to 1.2/1000. The distribution of clefts was: 35.3% cleft palate; 34.6% cleft lip and palate; 19.0% cleft lip and other cleft anomalies at 2%. Of the total number of CLP, 47.5% were male and 52.5% female, and this difference was statistically significant (p<0.001). The majority of clefts occurred on the left for males (35.5%) and palate for females (43.4%), with a male predominance of unilateral cleft lip and palate (53.3%). Conclusion The study findings should inform the implementation of South Africa’s planned birth defect surveillance system and health service planning for individuals with CLP.

BackgroundClefting of the lip and/or palate (CL/P) is amongst the five most common birth defects reported in South Africa. The emotional impact on parents at the birth of their new-born with CL/P could affect parent-child relationships. In light of insufficient scholarly attention parental experiences and perceptions, this study reports on caregivers’ perceptions of health service provision and support for children born with cleft lip and palate in South Africa.MethodsThe study setting consisted of 11 academic hospital centres situated in six of South Africa’s nine provinces. At each of the academic centres cleft clinic, five to ten parents or caregivers were selected purposively. Participants were interviewed, using a semi-structured interview schedule that elicited socio-demographic information, explored the family experiences of having a child with CL/P, and their perceptions of care provision and support services available. The interviews were analysed using thematic content analysis.ResultsSeventy-nine participants were interviewed. Their mean age was 33.3 years (range 17–68 years). The majority of the parents were black African (72%), unemployed (72%), single (67%) and with only primary school education (58%). The majority of the children were male, with a mean age of 3.8 (SD = ±4.3) years.Five broad themes emerged from the interviews: emotional experiences following the birth of a child with cleft lip and palate; reactions from family, friends or the public; the burden of care provision; health system responsiveness; and social support services.Caregivers reported feelings of shock, anxiety, and sadness, exacerbated by the burden of care provision, health system deficiencies, lack of public awareness and insufficient social support services.ConclusionsThe findings have implications for the integrated management of children with cleft lip and/or palate, including information to parents, the education and training of healthcare providers, raising public awareness of birth defects, and social support.Electronic supplementary materialThe online version of this article (10.1186/s12889-018-5421-x) contains supplementary material, which is available to authorized users.

Crouzon Syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Once the sutures become closed, growth potential to those sutures is restricted. However, multiple sutural synostoses frequently extend to premature fusion of skull base causing midfacial hypoplasia, shallow orbit, maxillary hypoplasia and occasional upper airway obstruction.The case of a 7-year-old South African black boy with Crouzon Syndrome is presented. He presented with characteristic triad of cranial deformity, maxillary hypoplasia and exophthalmos. The clinical, cephalometric features and initial orthodontic management of this patient are discussed as part of multidisciplinary management.

Background Collaboration among different categories of health professionals is essential for quality patient care, especially for individuals with cleft lip and palate (CLP). This study examined interprofessional collaboration (IPC) among health professionals in all CLP specialised centres in South Africa’s public health sector. Methods During 2017, a survey was conducted among health professionals at all the specialised CLP centres in South Africa’s public health sector. Following informed consent, each member of the CLP team completed a self-administered questionnaire on IPC, using the Interprofessional Competency Framework Self-Assessment Tool. The IPC questionnaire consists of seven domains with 51 items: care expertise (8 items); shared power (4 items); collaborative leadership (10 items); shared decision-making (2 items); optimising professional role and scope (10 items); effective group function (9 items); and competent communication (8 items). STATA®13 was used to analyse the data. Descriptive analysis of participants and overall mean scores were computed for each domain and analysed using ANOVA. All statistical tests were conducted at 5% significance level. Results We obtained an 87% response rate, and 52 participants completed the questionnaire. The majority of participants were female 52% (n = 27); with a mean age of 41.9 years (range 22–72). Plastic surgeons accounted for 38.5% of all study participants, followed by speech therapists (23.1%), and professional nurses (9.6%). The lowest mean score of 2.55 was obtained for effective group function (SD + -0.50), and the highest mean score of 2.92 for care expertise (SD + -0.37). Explanatory factor analysis showed that gender did not influence IPC, but category of health professional predicted scores on the five categories of shared power (p = 0.01), collaborative leadership (p = 0.04), optimising professional role and scope (p = 0.03), effective group function (p = 0.01) and effective communication (p = 0.04). Conclusion The seven IPC categories could be used as a guide to develop specific strategies to enhance IPC among CLP teams. Institutional support and leadership combined with patient-centred, continuing professional development in multi-disciplinary meetings will also enrich IPC.

Cleft lip and/or palate (CLP) is the most common congenital anomaly of the craniofacial complex, with an estimated worldwide prevalence of 1/500-700 live births. [1] In South Africa (SA), CLP is among the 5 most common birth defects reported, [2] with an estimated prevalence of 0.1-0.4/1 000 live births. [2-4] Affected children present with a number of medical problems and potential complications that include feeding difficulties, hearing loss, speech problems, disfigured appearance and dental malformation. [5-8] Hence, individuals with CLP require coordinated and specialised treatment offered by a multidisciplinary team, [9-11] which includes geneticists, maxillofacial surgeons, otolaryngologists, orthodontists, paediatricians, plastic surgeons, paediatric dentists, psychologists, professional nurses, social workers and speech and language therapists. [12-14] These teams are available in high-income countries (HICs). Various clinical protocols have been proposed for the treatment of CLP. [15] Many HICs have adopted national protocols and guidelines and have centralised services and/or established centres for the management and follow-up of affected individuals. [16-19] The advantages of centralisation and/or concentration of specialised services include the following: coordination of treatment, standardised data collection, availability of a critical mass of experts, clinical audit and review to enhance quality of care, responsiveness to patient and family needs, and ongoing monitoring and evaluation. [12,20-26] Globally, it is estimated that only 20% of individuals with CLP have access to comprehensive treatment that involves a team coordinated approach. [27] The treatment and care gaps include: lack or shortages of healthcare professionals, lack of infrastructure and delays in surgical repair of the clefts. [27,28] These gaps are most pronounced in low-and middle-income countries (LMICs) in Africa, Asia and South America. [28,29] In many LMICs, outreach programmes by nongovernmental organisations (NGOs) have assisted in improving the services for individuals with CLP. [29-34] These NGOs, together with support groups that include parents of the affected children, have played an important role in the ongoing management of CLP patients. However, the majority of LMICs, including SA, lag behind in terms of national treatment protocols, standardised data collection, access to care by a multidisciplinary team, and evaluation of treatment outcomes. [12,18,35] Notwithstanding improvements in the treatment of CLP individuals in the preceding decades, [36-38] there is still no universal protocol for repair and ongoing clinical management. However, treatment modalities in the management of CLP are often based on chronological age and dentofacial development. [38] The common elements of clinical standards and sequence of treatment of CLP are shown in Table 1. [38] At birth, genetic counselling is given to parents, and feeding of the baby is evaluated. Depending on the size of the cleft, feeding plates are recommended withi...