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18 Speak Out June 2017
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
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)
• 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)
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.