Speak Out June 2017

Unravelling the genetic and brain basis of childhood speech and language disorder THE GOAL OF A PROGRAM BY MURDOCH CHILDRENS RESEARCH INSTITUTE (MCRI) IS TO IMPROVE SPEECH PATHOLOGY PRACTICE BY IDENTIFYING, UNDERSTANDING AND TARGETING THE UNDERLYING CAUSES OF DEVELOPMENTAL SPEECH AND LANGUAGE DISORDERS.

National Health and Medical Research Council (NHMRC) grant of $2.5 million to establish the Centre for Research Excellence in Speech and Language Neurobiology (CRE-SLANG). The aim of the CRE-SLANG is to take the first step in understanding more about the aetiology of childhood speech and language disorders. The ultimate goal of the program is to improve speech pathology practice, by identifying, understanding and targeting the underlying causes of developmental speech and language disorders. Combining expertise in the fields of speech pathology, neuroscience, genetics and bioinformatics the CRE-SLANG team of investigators includes: • Professor Angela Morgan (Speech Pathologist, University of Melbourne and Murdoch Childrens Research Institute) • Professor Ingrid Scheffer (Laureate Professor in Paediatric Neurology, University of Melbourne) • Dr Michael Hildebrand (Molecular Geneticist, University of Melbourne) • Professor Melanie Bahlo (Statistical Geneticist, Walter and Eliza Hall Institute) • Professor Alan Connelly (MRI Development Physicist, Florey Institute of Neuroscience and Mental Health) • Professor David Amor (Clinical Geneticist, Royal Children’s Hospital)

OVER THE PAST century, speech pathologists have honed skills in diagnosis of developmental speech and language disorders. They have developed the diagnostic capability by focusing on deep description, or phenotyping, of a child’s presenting symptoms. Speech pathologists have also relied on skilled phenotyping to inform treatment goals for each child. Yet, using this approach, some clients continue to experience severe and debilitating communication difficulties, seemingly regardless of the therapies carefully selected and applied. Many feel strongly that speech pathologists are missing a crucial piece to the puzzle and they are critically lacking an understanding of the underlying causes of developmental speech and language disorders. Encouragingly, over the last few decades, evidence has been building on underlying genetic causes of speech and language disorders (Graham & Fisher, 2015). Research into families has supported what we often see anecdotally – speech disorders running in families. The most notable example has been the discovery of FOXP2 (Lai, Fisher, Hurst, Vargha-Khadem and Monaco 2001). This was the first gene identified to be associated with a speech or language disorder; namely a predominant phenotype of apraxia of speech (Morgan, Fisher, Scheffer, & Hildebrand, 2017). Discovery of this gene really catalysed a field of research focused on interrogating other possible genetic causes to speech and language disorders. There have been significant advances in genetic technologies since the original FOXP2 discovery, giving way to more efficient and affordable methods of gene discovery. These genetic advances have facilitated further discoveries. There are now a handful of potential gene pathways associated with motor speech disorder for example, including mutations in GRIN2A and SCN1A, discoveries lead by the MCRI team (Turner et al., 2015; Turner et al., 2017). The multi-disciplinary team at Murdoch Children’s Research Institute have been building a work program in this space for the past five years, largely enabled by an ARC Discovery grant in 2012. Based on the outputs and momentum from this first competitive grant, the team was recently awarded a five year

• Professor Sheena Reilly (Speech Pathologist, Griffith University)

• Professor Simon Fisher (Director of the Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands) • Dr Frederique Liegeois (Cognitive Neuroscientist, University College London Institute of Child Health)

18

June 2017 www.speechpathologyaustralia.org.au

Speak Out