Site Home

Plastic and Maxillofacial Surgery

RCH > Surgery > Plastic and Maxillofacial Surgery

 

Research

Deputy Director, Research - Peter G. Farlie

Research is a valuable part of the Department of Plastic and Maxillofacial Surgery.  Important work is being done and discoveries made due to original research within the department, and from collaboration with researchers in other departments.

Some of our current research projects include:

View research articles published by surgeons in the department - 2003, 2004, 2005

Adaptive living skills in adults with Williams Syndrome

Department of Plastic & Maxillofacial Surgery:  Ms Annette Da Costa, A/ Prof John Meara
Genetic Health Services Victoria: Prof Agnes Bankier, Dr Sue White

Williams syndrome is a rare genetic condition with distinctive physical, medical, cognitive (thinking) and behavioural features. Many affected individuals display a typical profile of intellectual, academic, social and behavioural abilities. A fundamental consideration and often posed question by the families of these children relates to their child's capacity to live independently in the community in their adult years. At present, there is very little empirical information available that can assist clinician's to accurately answer this fundamental concern.  Researchers from the Department of Plastic & Maxillofacial Surgery and Genetic Health Services Victoria have received funding to conduct research into the adaptive living skills, intelligence and quality of life of adults with Williams syndrome. The outcomes of this research will ultimately assist clinician's to provide families with the most accurate prognostic information about the developmental expectations for a child with Williams syndrome, of which can assist parents with decision-making and planning around their child's future long-term care needs.

Goto Top

Bone tissue engineering: novel biocompatible materials for repair of cranial and palate defects

The repair of congenital or acquired defects in the secondary palate and cranial bones remains a significant clinical challenge. The availability of reliable, widely applicable biomaterials to augment the range of surgical approaches utilized in the repair of palate and calvarial defects would greatly enhance management of these conditions. In collaboration with the Department of Chemical and Biomolecular Engineering, University of Melbourne, we are developing a research program with a focus on the application of existing biomaterials and the development of novel modifications. These materials will facilitate enhanced biointegration and the use of patient derived chrondrogenic and osteogenic precursors for tissue engineering.

Goto Top

Craniofacial development: characterising the molecular regulators

Many congenital anomalies of the craniofacial complex derive from alterations to the normal developmental program that occurs during the first trimester. Animal models can be used to determine the cellular and molecular basis of this early development. We are using avian and mouse models to identify key regulatory molecules that determine cell behaviour and differentiation during the earliest phases of craniofacial development. There are a number of cell types involved in development of the craniofacial complex but our focus is on the neural crest cells that form much of the skeletal elements of the head and face. Recent developments in this area include identification of the transcription factor Sox10 as a key regulator of neural crest cell development and the involvement of another transcription factor known as Dlx2 in regulating the earliest stages of skeletogenesis.

Goto Top

Craniofacial Sciences Consortium Cleft Registry

Research into the aetiology and treatment of facial clefts is a major focus of the Craniofacial Sciences Consortium, MCRI, a key research partner of the Department of Plastic and Maxillofacial Surgery(PMS). A registry containing data on the family history, nature, treatment and management of clefts was established 3 years ago by the CFSC and recent joint funding has recently enabled the appointment of a Cleft registry research coordinator. The purpose of the registry is to enable identification of trends in treatment and outcomes in cleft patients, better define the cleft population and identify phenotypic sub-groups that will facilitate research into the aetiology of facial clefts and inform best practice. The appointment of a research coordinator will greatly increase cleft research outcomes from a number of ongoing research projects including investigation of feeding issues in children with clefts and identification of key indicators of positive outcomes in cleft conditions.

Goto Top

Identification of a gene for isolated Pierre Robin Sequence

Pierre Robin Sequence is a condition involving mandibular hypoplasia, cleft palate and glossoptosis. Children affected with this condition frequently have respiratory and feeding difficulties neonatally which result in moderate to severe growth and development deficiencies in the first year of life. Pierre Robin Sequence occurs in conjunction with a number of syndromes but also exists in an isolated form. Isolated Pierre Robin Sequence occurs as a sporadic condition but can also be inherited as an autosomal dominant trait. We are using molecular genetics approaches to identify the gene responsible for isolated Pierre Robin Sequence in an Australian family with a translocation between chromosomes 2 and 17. We have recently identified a novel gene at the breakpoint on chromosome 17 and are characterizing the nature and significance of this genetic lesion in the aetiology of isolated Pierre Robin Sequence by screening for mutations to this gene in additional, unrelated Pierre Robin Sequence patients. In addition, recent advances in our understanding of this gene are leading to the development of animal models that will enable us to investigate the developmental sequence leading to Pierre Robin Sequence.

Goto Top

Neurodevelopmental functioning of infants with craniosynostosis

Craniosynostosis is a relatively common birth defect presenting to paediatric craniofacial centres.  This skull growth disorder arises from premature fusion of one or more of the sutures of the skull, resulting in distortions of the shape and appearance of the skull and face.  It is unclear as to how this condition affects the growth and development of the underlying brain.  We are currently investigating the developmental implications of craniosynostosis, specifically of how thinking and motor skills develop in infants with this condition. 

Goto Top

Neurodevelopmental characteristics of infants with deformational plagiocephaly

Deformational plagiocephaly deformities have increased dramatically in craniofacial centres in Australia and internationally, and comprise a significant proportion of referrals to the Department of Plastic & Maxillofacial Surgery at the RCH.  This condition is characterised by asymmetry of the skull, and sometimes the face.  Causative factors include mechanical factors in utero and postnatally and foetal position in the womb. Time spent lying on the back can also exaggerate the deformity.  There is limited empirical research into the contributory and preventative factors of this condition.  Furthermore, there is some evidence for developmental delays in affected infants.  Our research team is currently investigating the pre- and perinatal factors, general health, infant care practices and developmental features of infants with deformational plagiocephaly. 

Goto Top

Neuropsychological characteristics of children and adolescents with craniofacial anomalies

The long-term cognitive and behavioural (neuropsychological) outcomes in craniofacial disorders are poorly described, and few experimental studies have characterised the wide spectrum of neuropsychological abilities of this group beyond global intellect. We investigated the neuropsychological profiles of 34 children with syndromic (n=13) and nonsyndromic (n= 21) craniosynostosis who had undergone cranial expansion surgery. Children were assessed on measures of intelligence, attention, memory, academic progress, executive and behavioural functioning. Amongst the study's major findings, children with syndromic craniosynostosis were found to show better cognitive outcomes than previously reported in the empirical literature. We also found that children with nonsyndromic craniosynostosis, a condition that has traditionally been associated with relatively benign cognitive sequelae, displayed difficulties with attention and higher level 'executive' cognitive skills. Current and future research is aimed at building upon these preliminary findings. We are also utilising technological advancements in imaging, namely 3D computerised digital imaging to explore associations between the nature and magnitude of cranial deformity in craniosynostosis, with cognitive and behavioural outcomes.

Goto Top

Neuropsychological profiles of children with craniofrontonasal dysplasia

Craniofrontonasal Dysplasia is a rare, familial craniofacial syndrome that results in deformities of the skull, face, and body. Children with this condition typically require long-term medical management to improve cosmetic appearance and function. Anecdotal reports and clinical experience suggests that people with this condition often show a distinctive pattern of cognitive, personality and behavioural characteristics that affects their ability to manage everyday activities, including educational tasks. No cognitive or behavioural phenotype has been reported in the research literature for this group, however. In collaboration with researchers at The Children's Hospital at Westmead, Sydney, we are conducting a study that will comprehensively describe the affective, cognitive and social attributes in children with craniofrontonasal dysplasia.

Goto Top

Obstetric Brachial Plexus Palsy

2003 saw the establishment of the multi-professional Obstetric Brachial Plexus Palsy (OBPP) team, which consists of Mr Bruce Johnstone and Mr David McCombe (Department of Plastic and Maxillofacial Surgery), Ms Anne McCoy, Ms Kirsty Kurilowicz (Physiotherapy Department) and Dr Andrea Bialocerkowski (School of Physiotherapy, The University of Melbourne). This team seeks to coordinate the management of children diagnosed with OBPP who are referred to the Royal Children's Hospital, in addition to conducting research to increase the quality of care provided to these children and their quality of life. Dr Andrea Bialocerkowski became involved in the team in June 2003, as an honorary Clinical Research Coordinator for Brachial Plexus and hand research (Department of Plastic and Maxillofacial Surgery) and a Research Fellow at the Murdoch Children's Research Institute.

Goto Top

Paediatric craniofacial disorders:  neuropsychological issues from infancy to adolescence

Craniofacial disorders involve visible deformities of the skull and face.  Many craniofacial disorders feature craniosynostosis; the premature fusion of one or more of the fibrous joints separating the bony skull plates.  Craniosynostosis typically occurs in utero, and restricts and distorts skull and brain growth.  In most cases, surgery is required during infancy to expand and remodel the skull.  Research has shown that children with craniofacial disorders may experience thinking, learning and behaviour problems.  However, the literature to date has been described in quite broad terms, and there is still much that we do not know about the impact of these conditions upon children’s development and school performance.  The Department of Plastic & Maxillofacial Surgery is expanding its research activities into the neuropsychological implications of craniofacial disorders upon infant and child development.  Students interested in undertaking research will have the opportunity to investigate a seldom-studied paediatric population, and to explore the interrelationships between pre- and postnatal growth factors upon thinking and behaviour, from infancy through to adolescence. For more information, please contact Annette Da Costa: annette.dacosta@rch.org.au

Goto Top

Deputy Director, Research -  Peter G. Farlie

 

Last Updated 19-Jan-2009. Authorised by: Heather Cleland. Enquiries: Amber Fraser.
webmaster. © RCH.