Audiology and Speech Pathology - Research Publications
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ItemNo Preview AvailableExpanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals(BMJ PUBLISHING GROUP, 2024-01-30)OBJECTIVES: Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention recommendations. We define the speech, language and cognitive phenotypic spectrum in a large cohort of individuals with Kleefstra syndrome. METHOD: 103 individuals with Kleefstra syndrome (40 males, median age 9.5 years, range 1-43 years) with pathogenic variants (52 9q34.3 deletions, 50 intragenic variants, 1 balanced translocation) were included. Speech, language and non-verbal communication were assessed. Cognitive, health and neurodevelopmental data were obtained. RESULTS: The cognitive spectrum ranged from average intelligence (12/79, 15%) to severe intellectual disability (12/79, 15%). Language ability also ranged from average intelligence (10/90, 11%) to severe intellectual disability (53/90, 59%). Speech disorders occurred in 48/49 (98%) verbal individuals and even occurred alongside average language and cognition. Developmental regression occurred in 11/80 (14%) individuals across motor, language and psychosocial domains. Communication aids, such as sign and speech-generating devices, were crucial for 61/103 (59%) individuals including those who were minimally verbal, had a speech disorder or following regression. CONCLUSIONS: The speech, language and cognitive profile of Kleefstra syndrome is broad, ranging from severe impairment to average ability. Genotype and age do not explain the phenotypic variability. Early access to communication aids may improve communication and quality of life.
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ItemNo Preview AvailableStuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40(OXFORD UNIV PRESS, 2023-12-01)Stuttering is a common speech disorder that interrupts speech fluency and tends to cluster in families. Typically, stuttering is characterized by speech sounds, words or syllables which may be repeated or prolonged and speech that may be further interrupted by hesitations or 'blocks'. Rare variants in a small number of genes encoding lysosomal pathway proteins have been linked to stuttering. We studied a large four-generation family in which persistent stuttering was inherited in an autosomal dominant manner with disruption of the cortico-basal-ganglia-thalamo-cortical network found on imaging. Exome sequencing of three affected family members revealed the PPID c.808C>T (p.Pro270Ser) variant that segregated with stuttering in the family. We generated a Ppid p.Pro270Ser knock-in mouse model and performed ex vivo imaging to assess for brain changes. Diffusion-weighted MRI in the mouse revealed significant microstructural changes in the left corticospinal tract, as previously implicated in stuttering. Quantitative susceptibility mapping also detected changes in cortico-striatal-thalamo-cortical loop tissue composition, consistent with findings in affected family members. This is the first report to implicate a chaperone protein in the pathogenesis of stuttering. The humanized Ppid murine model recapitulates network findings observed in affected family members.
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ItemNo Preview AvailableIn-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2(BMJ PUBLISHING GROUP, 2023-06)BACKGROUND: Heterozygous disruptions of FOXP2 were the first identified molecular cause for severe speech disorder: childhood apraxia of speech (CAS), and yet few cases have been reported, limiting knowledge of the condition. METHODS: Here we phenotyped 28 individuals from 17 families with pathogenic FOXP2-only variants (12 loss-of-function, five missense variants; 14 males; aged 2 to 62 years). Health and development (cognitive, motor, social domains) were examined, including speech and language outcomes with the first cross-linguistic analysis of English and German. RESULTS: Speech disorders were prevalent (23/25, 92%) and CAS was most common (22/25, 88%), with similar speech presentations across English and German. Speech was still impaired in adulthood, and some speech sounds (eg, 'th', 'r', 'ch', 'j') were never acquired. Language impairments (21/25, 84%) ranged from mild to severe. Comorbidities included feeding difficulties in infancy (10/26, 38%), fine (13/26, 50%) and gross (13/26, 50%) motor impairment, anxiety (5/27, 19%), depression (6/27, 22%) and sleep disturbance (10/24, 42%). Physical features were common (22/27, 81%) but with no consistent pattern. Cognition ranged from average to mildly impaired and was incongruent with language ability; for example, seven participants with severe language disorder had average non-verbal cognition. CONCLUSIONS: Although we identify an increased prevalence of conditions like anxiety, depression and sleep disturbance, we confirm that the consequences of FOXP2 dysfunction remain relatively specific to speech disorder, as compared with other recently identified monogenic conditions associated with CAS. Thus, our findings reinforce that FOXP2 provides a valuable entry point for examining the neurobiological bases of speech disorder.
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ItemSelf-reported impact of developmental stuttering across the lifespan(WILEY, 2022-10)AIM: To examine the phenomenology of stuttering across the lifespan in the largest prospective cohort to date. METHOD: Participants aged 7 years and older with a history of developmental stuttering were recruited. Self-reported phenotypic data were collected online including stuttering symptomatology, co-occurring phenotypes, genetic predisposition, factors associated with stuttering severity, and impact on anxiety, education, and employment. RESULTS: A total of 987 participants (852 adults: 590 males, 262 females, mean age 49 years [SD = 17 years 10 months; range = 18-93 years] and 135 children: 97 males, 38 females, mean age 11 years 4 months [SD = 3 years; range = 7-17 years]) were recruited. Stuttering onset occurred at age 3 to 6 years in 64.0%. Blocking (73.2%) was the most frequent phenotype; 75.9% had sought stuttering therapy and 15.5% identified as having recovered. Half (49.9%) reported a family history. There was a significant negative correlation with age for both stuttering frequency and severity in adults. Most were anxious due to stuttering (90.4%) and perceived stuttering as a barrier to education and employment outcomes (80.7%). INTERPRETATION: The frequent persistence of stuttering and the high proportion with a family history suggest that stuttering is a complex trait that does not often resolve, even with therapy. These data provide new insights into the phenotype and prognosis of stuttering, information that is critically needed to encourage the development of more effective speech therapies. WHAT THIS PAPER ADDS: Half of the study cohort had a family history of stuttering. While 75.9% of participants had sought stuttering therapy, only 15.5% identified as having recovered. There was a significant negative correlation between age and stuttering frequency and severity in adults.
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ItemNo Preview AvailableSpeech and language deficits are central to SETBP1 haploinsufficiency disorder(SPRINGERNATURE, 2021-08)Expressive communication impairment is associated with haploinsufficiency of SETBP1, as reported in small case series. Heterozygous pathogenic loss-of-function (LoF) variants in SETBP1 have also been identified in independent cohorts ascertained for childhood apraxia of speech (CAS), warranting further investigation of the roles of this gene in speech development. Thirty-one participants (12 males, aged 0; 8-23; 2 years, 28 with pathogenic SETBP1 LoF variants, 3 with 18q12.3 deletions) were assessed for speech, language and literacy abilities. Broader development was examined with standardised motor, social and daily life skills assessments. Gross and fine motor deficits (94%) and intellectual impairments (68%) were common. Protracted and aberrant speech development was consistently seen, regardless of motor or intellectual ability. We expand the linguistic phenotype associated with SETBP1 LoF syndrome (SETBP1 haploinsufficiency disorder), revealing a striking speech presentation that implicates both motor (CAS, dysarthria) and language (phonological errors) systems, with CAS (80%) being the most common diagnosis. In contrast to past reports, the understanding of language was rarely better preserved than language expression (29%). Language was typically low, to moderately impaired, with commensurate expression and comprehension ability. Children were sociable with a strong desire to communicate. Minimally verbal children (32%) augmented speech with sign language, gestures or digital devices. Overall, relative to general development, spoken language and literacy were poorer than social, daily living, motor and adaptive behaviour skills. Our findings show that poor communication is a central feature of SETBP1 haploinsufficiency disorder, confirming this gene as a strong candidate for speech and language disorders.
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ItemNo Preview AvailableFactors affecting the quality of sound recording for speech and voice analysis(INFORMA HEALTHCARE, 2009-12)The importance and utility of objective evidence-based measurement of the voice is well documented. Therefore, greater consideration needs to be given to the factors that influence the quality of voice and speech recordings. This manuscript aims to bring together the many features that affect acoustically acquired voice and speech. Specifically, the paper considers the practical requirements of individual speech acquisition configurations through examining issues relating to hardware, software and microphone selection, the impact of environmental noise, analogue to digital conversion and file format as well as the acoustic measures resulting from varying levels of signal integrity. The type of recording environment required by a user is often dictated by a variety of clinical and experimental needs, including: the acoustic measures being investigated; portability of equipment; an individual's budget; and the expertise of the user. As the quality of recorded signals is influenced by many factors, awareness of these issues is essential. This paper aims to highlight the importance of these methodological considerations to those previously uninitiated with voice and speech acoustics. With current technology, the highest quality recording would be made using a stand-alone hard disc recorder, an independent mixer to attenuate the incoming signal, and insulated wiring combined with a high quality microphone in an anechoic chamber or sound treated room.
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ItemNo Preview AvailableComparability of Modern Recording Devices for Speech Analysis: Smartphone, Landline, Laptop, and Hard Disc Recorder(KARGER, 2014)BACKGROUND: Large-scale multi-site experimental and clinical speech protocols require high-fidelity, easy-to-use speech recording technologies. However, little is known about the reliability and comparability of affordable, portable and commonly used technologies with traditional well-validated devices (e.g., a hard disc recorder with a high-quality microphone). OBJECTIVE: To examine the comparability of speech and voice samples acquired from protocols involving high- and low-quality devices. METHODS: Speech samples were acquired simultaneously from 15 healthy adults using four devices and analyzed acoustically for measures of timing and voice quality. For the purpose of making initial comparisons, methods were deemed comparable if the resultant acoustic data yielded root mean squared error values ≤10% and statistically significant Spearman's correlation coefficients. RESULTS: The data suggest that there is significant and widespread variability in the quality and reliability between different acquisition methods for voice and speech recording. Not one method provided statistically similar data to the protocol using the benchmark device (i.e., a high-quality recorder coupled with a condenser microphone). Acoustic analysis cannot be assumed to be comparable if different recording methods are used to record speech. CONCLUSIONS: Findings have implications for researchers and clinicians hoping to make comparisons between labs or, where lower-quality devices are suggested, to offer equal fidelity.
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ItemNo Preview AvailableIntervention for developmental apraxia of speech (Protocol)(Wiley - John Wiley & Sons, 2006-12-01)This is the protocol for a review and there is no abstract. The objectives are as follows: To assess the efficacy of intervention for developmental apraxia of speech / developmental verbal dyspraxia. Copyright © 2006 The Cochrane Collaboration. Published by John Wiley & Sons, Ltd.
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ItemNo Preview AvailableIntervention for dysarthria associated with acquired brain injury in children and adolescents (Protocol)(Wiley - John Wiley & Sons, 2006-10-18)This is the protocol for a review and there is no abstract. The objectives are as follows: To assess the efficacy of intervention delivered by Speech and Language Pathologists/Therapists targeting dysarthric speech in children resulting from acquired brain injury.
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ItemNo Preview AvailableIntervention for childhood apraxia of speech(WILEY, 2008)BACKGROUND: The diagnostic criteria for Childhood Apraxia of Speech (CAS), and the underlying cause(s) for this disorder, remain heavily debated. Some agreement exists that children with CAS may have impairments in one or more of the following domains: non-speech oral motor function, motor speech function, speech sounds and structures (i.e., syllable and word shapes), prosody, language, phonemic awareness / metalinguistic skills, and literacy . Recently consensus has been reached that only three features across these domains have diagnostic validity: (1) inconsistent error production on both consonants and vowels across repeated productions of syllables or words, (2) lengthened and impaired coarticulatory transitions between sounds and syllables, and (3) inappropriate prosody (ASHA 2007). Perhaps due to the ongoing deliberation over aetiology and diagnosis, little evidence on intervention for CAS is published. OBJECTIVES: To assess the efficacy of intervention delivered by Speech and Language Pathologists(s)/Speech and Language Therapists targeting CAS in children and adolescents. SEARCH STRATEGY: The following databases were searched: CENTRAL (Issue 4, 2006), MEDLINE (1966 to 01/2007), CINAHL (1982 to 12/2006), EMBASE (1980 to 01/2007), ERIC (1965 to 01/2007), Linguistics Abstracts Online (1985 to 01/2007), PsycINFO (1872 to 01/2007). Reference lists of articles thus identified were examined. SELECTION CRITERIA: The review considered randomised controlled trials (RCTs) and quasi-randomised studies of children aged 3 to 16 years with CAS, grouped by treatment types (e.g., perceptual and instrumentally-based biofeedback treatment techniques). DATA COLLECTION AND ANALYSIS: Two authors independently assessed titles and abstracts identified from the searches and obtained full text versions of all potentially relevant articles. Articles were assessed for design and risk of bias. In addition to outcome data, a range of variables about participant group and outcomes were documented. MAIN RESULTS: Of 825 titles and abstracts searched, only 31 abstracts appeared to meet inclusion criteria. The remaining 794 papers were excluded predominantly on the basis of not including participants with CAS (e.g., focused on other developmental speech disorders or adult acquired apraxia of speech), or for not being intervention studies (i.e. being diagnostic or descriptive). All 31 full text articles obtained were excluded following evaluation as they did not meet inclusion criteria on design. . Thus no studies are included in this review. AUTHORS' CONCLUSIONS: The review demonstrates a critical lack of well controlled treatment studies addressing treatment efficacy for CAS, making it impossible for conclusions to be drawn about which interventions are most effective for treating CAS in children or adolescents.