An Exploration of Non-Syndromic Cleft Lip and Palate: The Australian and Filipino Experiences

An Exploration of Non-Syndromic Cleft Lip and Palate: The Australian and Filipino Experiences



Graeme H. Wallace OAM, KCSJ, MHSc


Cite this Article as:

Wallace, G. H. (2014). "An exploration of non-syndromic cleft lip and palate: the Australian and Filipino experiences." (Reviewed by Mossey, P. A. and Waylen, A.)





Cleft lip and palate is a birth anomaly affecting one in every 600-700 children born in Australia with even higher incidences in some developing countries. This thesis aimed to further the understanding of the possible cause and effect relationships, and also of the impact of having a cleft on the lives of the individual and their family. Being an explorative work the breadth of the research presented in this thesis was wide, eclectic and of an epidemiological nature. The literature suggested that a cleft may be either the result of a genetic aberration, a nutritional deficiency in the mother, or the mother being exposed to an environmental toxin during the pregnancy. Unfortunately none of the literature was conclusive and left significant areas open for further exploration.

In Australia there had been no studies conducted to determine what the general public knew about this birth anomaly. A study (Chapter 3) was conducted using both qualitative and quantitative methods, which showed that the level of knowledge was poor, and that this was independent of age, gender, and educational achievement.

Many studies have been undertaken by researchers focussing on the genes involved in facial morphogenesis, while other researchers considered nutrition, developing their work from the folic acid relationship with neural tube defects. Extensive research involving possible toxin involvement has been carried out but is limited mainly to tobacco use and alcohol. Unlike many previous studies, this thesis commenced by listening to people whose lives have been affected by clefting, and used that information to build a network of research questions to determine the direction for each study.

In particular this thesis presented the outcomes of nine studies that addressed the following aspects of clefting:

Young adults who were born with a cleft were interviewed to understand the issues that they faced growing up with this anomaly (Chapter 4). The study indicated that they were strong and confident in their adult life, and coped well with all of the issues they faced, being well supported by the medical practitioners they came in contact with, and most of all their family.

Parents of young adults born with a cleft faced difficult times, many not knowing what the future held for their child (Chapter 5). The surgical staff was crucial in providing support, but they also gained strength from a volunteer group called CleftPals. Seeing their child having to undergo yet another surgical procedure was always stressful, but all were now proud of their child’s success in life.

A qualitative and quantitative study undertaken in the Philippines (Chapter 6) suggested that a nutritional deficiency may be involved, but the precise nature of that was difficult to determine as all of the women involved in the study were living in poverty, and many in highly polluted areas.

An Australian study (Chapter 7) which considered the lifestyle of mothers whose child was born with a cleft could not directly connect the mother’s tobacco use, body mass index or the birth-weight of the child to clefting. Although the sample size was small, it did confirm, as in other research, that the anomaly affects more boys than girls (gender bias). This study did find a relationship between the stress level of the mother at or around conception with clefting, and thus modulation of the HPA axis causative effect.

A controlled study (Chapter 8) involving the analysis of a pregnant mother’s hair blood and urine found that all pregnant mothers have elevated cortisol levels, and that mothers carrying a cleft fetus had even higher levels. This latter result may have arisen due to unplanned pregnancy and having available funds for another child, or just knowing that the child would be born with a cleft, leaving the women more anxious than other expectant mothers. While small in scope, this study did suggest that mothers who appeared not to be absorbing, or were underutilising the available zinc in their bodies, were more likely to have a cleft child.

A qualitative study (Chapter 9) undertaken with women who had already had a cleft child and who wanted another baby showed that if they changed their lifestyle and took the appropriate preconception supplementation it was possible to have a second baby free of this anomaly.

To try and duplicate a study undertaken by a researcher into neural tube defects, a controlled study, using mixed methods (Chapter 10) and analysing the hair of mothers whose cleft child was less than twelve months old, was undertaken in both Australia and the Philippines. The study failed to show that zinc deficiency was associated, probably because of the difficulty to accurately determine which part of the hair related to the point of conception.

A final study (Chapter 11) to ascertain whether hair mineral analysis was a useful tool, considered the case of a young woman who was having trouble becoming pregnant. This study, while not related to a cleft issue, involved all of the thoughts from the above studies. She took a broad-spectrum preconception supplement, additional zinc, and undertook activities to reduce her stress prior to conception. She was able to become pregnant and nine months later had a female baby with no anomalies. This single case can not be considered conclusive regarding cause and effect, but merely introduces hair analysis as a potential diagnostic tool.

While larger studies will be required to substantiate the findings obtained in this thesis, the pathway leading to a child being born with a cleft appears to have multiple starting points, including

  • traumatic stress (at or around conception) perhaps initiates a hormonal response which may alter the flow of nutrients to the developing fetus;
  • environmental toxins which may include pharmacological drugs, agricultural chemicals and toxins present in drinking water, and;
  • nutritional deficiencies, in particular zinc.

Recommendations have been provided for those planning pregnancy as well as for those seeking to pursue further research in clefting.

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