Strong Voices

Researchers tracking the development of young children in Australia and New Zealand with Williams syndrome are returning to New Zealand to catch up on lost COVID time with Kiwi kids.

The research is being led by Associate Professor Melanie Porter, a senior clinical neuropsychologist, and clinical neuropsychology intern and PhD candidate Jessica Reeve from Macquarie University in Sydney. Jessica recently submitted her PhD study on Williams syndrome.

While the pandemic prevented Melanie and Jessica from following up Kiwi participants, the pair have criss-crossed Australia testing and interviewing children and families in most states.

“Some of the Australian children we have actually seen three times now,” says Jessica. But the study is designed in a way that Kiwi participants are not left behind.

“Even though we have only seen a few in New Zealand, it’s a staggered design,” Melanie says. This allows them to recruit more participants as they go.

Melanie and Jessica came to the New Zealand Williams Syndrome Association camp in Christchurch in January 2019, where they discussed the research project and conducted interviews with parents and assessments of children.

Five New Zealand children are participating in the study and the researchers are hoping to recruit more families when they return to New Zealand in January 2023 for the next camp. There are 46 Australian participants so far.

The research is a longitudinal study in which families can participate over a long period of time to allow researchers to gather as much information as possible about the rare genetic condition and its impact on a child’s development. It also looks at the experiences of families – such as parent coping, parent mental health and parental attitudes.

They hope to track the children over two, five, 10 and perhaps 20 years. Jessica says the study has now reached its seven-year mark and is confirming trends seen in older people with Williams syndrome, particularly the huge variation in how the condition impacts individuals.

She says it’s about knowing the children’s strengths and building on them and supporting their weaknesses.

Melanie says there is hardly any research on young children with Williams syndrome. Knowing more about younger children will help to predict later development and allow for the development of interventions for both children and their parents.

She says those with Williams syndrome often have strengths that support literacy rather than numeracy, so typically find maths more difficult than reading. “They tend to have a weakness in non-verbal and motor skills.”

The first time-point of the study focuses on children between the ages of two and seven years. It involves a face-to-face assessment with each child, as well as parent interviews and questionnaires. It looks at how early thinking and learning processes contribute to later intellectual, adaptive (daily living skills), academic and mental health outcomes for children with Williams syndrome.

Melanie says many see the high sociability of people with Williams syndrome as a positive thing in aiding social connection. But there are drawbacks. Over-friendliness brings dangers too. As the children get older it is harder for them to maintain their friendships as they struggle with social reasoning, and their extreme social trust brings some vulnerabilities.

“The big take-home message is early intervention,” Melanie says.

Williams syndrome is most commonly caused by a deletion of 26 to 28 genes on chromosome 7. This missing genetic material can cause a wide range of symptoms.

To know more about the research, or to participate, please contact Jessica Reeve at jessica.reeve@mq.edu.au and Melanie Porter at melanie.porter@mq.edu.au

Caption 1: Lucy White (right) and Amelie Miller, her great friend from next door.

Caption 2: Bob Hastie dressed as a mariachi Wiggle at the last New Zealand Williams Syndrome Association talent quest.