Childhood Apraxia of Speech (CAS) is a severe motor speech disorder that is difficult to diagnose as there is currently no gold-standard measurement to differentiate between CAS and other speech disorders. In the present study, we investigate underlying biomarkers associated with CAS in addition to enhanced phenotyping through behavioral testing.…
Childhood Apraxia of Speech (CAS) is a severe motor speech disorder that is difficult to diagnose as there is currently no gold-standard measurement to differentiate between CAS and other speech disorders. In the present study, we investigate underlying biomarkers associated with CAS in addition to enhanced phenotyping through behavioral testing. Cortical electrophysiological measures were utilized to investigate differences in neural activation in response to native and non-native vowel contrasts between children with CAS and typically developing peers. Genetic analysis included full exome sequencing of a child with CAS and his unaffected parents in order to uncover underlying genetic variation that may be causal to the child’s severely impaired speech and language. Enhanced phenotyping was completed through extensive behavioral testing, including speech, language, reading, spelling, phonological awareness, gross/fine motor, and oral and hand motor tasks. Results from cortical electrophysiological measures are consistent with previous evidence of a heightened neural response to non-native sounds in CAS, potentially indicating over specified phonological representations in this population. Results of exome sequencing suggest multiple genetic variations contributing to the severely affected phenotype in the child and provide further evidence of heterogeneous genomic pathways associated with CAS. Finally, results of behavioral testing demonstrate significant impairments evident across tasks in CAS, suggesting underlying sequential processing deficits in multiple domains. Overall, these results have the potential to delineate functional pathways from genetic variations to the brain to observable behavioral phenotypes and motivate the development of preventative and targeted treatment approaches.
In 1990, researcher Jane Hurst and her colleagues published “An Extended Family With a Dominantly Inherited Speech Disorder,” in which they proposed that a single gene was responsible for a language disorder across three generations of a family. Affected individuals of the family, called the KE family, had difficulty producing,…
In 1990, researcher Jane Hurst and her colleagues published “An Extended Family With a Dominantly Inherited Speech Disorder,” in which they proposed that a single gene was responsible for a language disorder across three generations of a family. Affected individuals of the family, called the KE family, had difficulty producing, expressing and comprehending speech. Hurst and her team studied the KE family and the disorder at the Department of Clinical Genetics at the Great Ormond Street Hospital for Children in London, England. Their report was subsequently published in the journal Developmental Medicine and Child Neurology in 1990. The authors’ conclusions helped researchers better describe and explain language as a developmental and biological phenomenon and led later researchers to discover the proposed gene, mutations to which caused the language disorder.
The purpose of this study was to compare the speech and motor functions a group of individuals with Childhood Apraxia of Speech (CAS) and a case study of an individual who has suffered a right cerebellar stroke. The participants consisted of one case study adult and three families made u…
The purpose of this study was to compare the speech and motor functions a group of individuals with Childhood Apraxia of Speech (CAS) and a case study of an individual who has suffered a right cerebellar stroke. The participants consisted of one case study adult and three families made up of three to five members each, all with a history of CAS. All of the participants in the study performed below average on speech and motor function tests. There are some comparable similarities between the CAS group and the case study individual suggesting that there is cerebellar involvement in the fine motor skills needed to perform speech movements.
