ORCID Profile
0000-0001-6247-5544
Current Organisations
University of Adelaide
,
University of New South Wales
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Publisher: Springer Science and Business Media LLC
Date: 04-05-2020
DOI: 10.1038/S41398-020-0803-0
Abstract: Protocadherin-19 ( PCDH19 ) pathogenic variants cause an early-onset seizure disorder called girls clustering epilepsy (GCE). GCE is an X-chromosome disorder that affects heterozygous females and mosaic males, however hemizygous (“transmitting”) males are spared. We aimed to define the neuropsychiatric profile associated with PCDH19 pathogenic variants and determine if a clinical profile exists for transmitting males. We also examined genotype- and phenotype–phenotype associations. We developed an online PCDH19 survey comprising the following standardized assessments: The Behavior Rating Inventory of Executive Function the Social Responsiveness Scale, 2nd edition the Strengths and Difficulties Questionnaire and the Dimensional Obsessive-Compulsive Scale. Genetic, seizure, and developmental information were also collected. The survey was completed by patients or by caregivers on behalf of patients. Of the 112 in iduals represented (15 males), there were 70 unique variants. Thirty-five variants were novel and included a newly identified recurrent variant Ile781Asnfs*3. There were no significant differences in phenotypic outcomes between published and unpublished cases. Seizures occurred in clusters in 94% of in iduals, with seizures resolving in 28% at an average age of 17.5 years. Developmental delay prior to seizure onset occurred in 18% of our cohort. Executive dysfunction and autism spectrum disorder (ASD) occurred in approximately 60% of in iduals. The ASD profile included features of attention-deficit hyperactivity disorder. In addition, 21% of in iduals met criteria for obsessive-compulsive disorder that appeared to be distinct from ASD. There were no phenotypic differences between heterozygous females and mosaic males. We describe a mosaic male and two hemizygous males with atypical clinical profiles. Earlier seizure onset age and increased number of seizures within a cluster were associated with more severe ASD symptoms ( p = 0.001), with seizure onset also predictive of executive dysfunction ( p = 4.69 × 10 −4 ) and prosocial behavior ( p = 0.040). No clinical profile was observed for transmitting males. This is the first patient-derived standardized assessment of the neuropsychiatric profile of GCE. These phenotypic insights will inform diagnosis, management, and prognostic and genetic counseling.
Publisher: Cambridge University Press (CUP)
Date: 03-2013
DOI: 10.1515/LANGCOG-2013-0002
Abstract: As speakers, we are frequently called upon to specify the locations of objects and landmarks in our environment. However, despite the considerable body of work on spatial cognition and semantics (i.e. Levinson 1992, 1996, 2003 Tyler and Evans 2003 Herskovits 1986 Vandeloise 1986), there has been almost no research on the expression of location from a multimodal viewpoint: that is, how do speakers use gesture, as well as speech, to express object location? This paper reports on a filmed study of 10 English speakers and 10 French speakers who were asked to express the locations of 28 objects in two spatial scenes. On the basis of our results we argue that a functional, as opposed to a grammatical, approach to the segmentation and analysis of these sorts of expressions is crucial. Such an approach reflects the fact that different Figures (i.e. objects to be located) can exist simultaneously across speech and gesture. Using filmed ex les from our data set, we propose a new definition of static locative expressions and outline a multimodal approach for their analysis in oral discourse.
Publisher: Elsevier BV
Date: 11-2011
Publisher: Oxford University Press (OUP)
Date: 17-03-2017
DOI: 10.1093/HMG/DDX094
Publisher: Springer International Publishing
Date: 2020
Publisher: Elsevier BV
Date: 2020
DOI: 10.1016/J.EJPN.2019.12.020
Abstract: PCDH19 Girls clustering epilepsy (GCE) has a phenotypic spectrum that includes developmental and epileptic encephalopathy. PCDH19-GCE presents with clusters of seizures in the first years of life. Although patients typically outgrow their seizures, many are left with intellectual disability. Here we retrospectively assess the effect of levetiracetam in two independent cohorts of females with PCDH19-GCE. Cohort A was identified by searching our epilepsy genetics research database for girls with PCDH19-GCE who had trialled levetiracetam. Cohort B consisted of girls aged 2 years or older, including women, participating in an international online questionnaire. Information regarding seizure frequency and levetiracetam use was obtained by in-person patient interview and review of clinical records for cohort A, and by patient report for cohort B. Cohort A consisted of 17 females, aged 3-37 years, who had a trial of levetiracetam at an average age of 10.7 years. 13/17 females became seizure free for >12 months while 10/17 remained seizure free for >24 months. Cohort B comprised 62 females, aged 1.5-41 years. 26/62 became seizure free for >12 months, and 19/62 for >24 months on levetiracetam therapy. Levetiracetam was effective in two cohorts of females with PCDH19-GCE where 42% and 76% of females became seizure free for >12 months, respectively. Levetiracetam is an effective therapy for females with PCDH19-GCE and should be considered early in the management of the highly refractory clusters of seizures that characterise this genetic disease.
Publisher: Springer Science and Business Media LLC
Date: 11-06-2018
Publisher: Oxford University PressOxford
Date: 29-11-2013
DOI: 10.1093/ACPROF:OSO/9780199661213.003.0009
Abstract: The ways in which different languages encode motion events has been the topic of intense analyses and dissections in recent years, especially with regard to Talmy’s (1991, 2000) verb / satellite-framed typology. This chapter shifts course by moving away from motion event typologies and the encoding of canonical motion events. Instead, it shows that English speakers can conceptualize space in terms of motion events even when they set out to encode locative relationships: this is termed motion-framed location and is lexicalized by spatial–temporal prepositions such as before and after. This chapter uses two interpretations of granularity (understood as level of specificity and scales of space) to explore key semantic and usage differences between the locative prepositions in front of and behind on the one hand, and before and after on the other. The analysis shows that the former locative prepositions encode a finer degree of locative semantic detail than do the spatial–temporal ones, and that the latter are more restricted in terms of the scales of space at which they are used. Before and after require constancy in the Figure / Ground locative relationship, thereby favoring non-manipulable entities which occupy fixed locations in space. In contrast, in front of and behind are used to lexicalize locative relationships at both large and small scales of space, without the same requirement of Figure and Ground locative stability.
Publisher: John Benjamins Publishing Company
Date: 31-12-2012
Abstract: When speakers encode a locative relationship in speech, they express the location of an object or a group of objects (the ‘Figure’) in relation to one or more reference objects (the ‘Ground’). However, they can also use gesture to express the lexical Ground’s location at the same time: this has been called a ‘gestural Figure’ (Tutton, 2013). Our aim in this paper is to examine why speakers use gestural Figures, and what these gestures reveal about spatial conceptualisation. To do this, we provide an in-depth analysis of a recurrent context in which gestural Figures occur: when speakers encode location with English between and French entre . These gestures reveal the salient horizontal axis underpinning the use of between and entre in context. Our analysis subsequently shows that gestural Figures also occur with a variety of other items that encode locative relationships. We argue that this highlights the pivotal nature of the Ground’s location to the selection and use of lexical items that encode locative relationships, while also revealing the intrinsically Figure-like quality of the lexical Ground. On a cognitive level, this implies that the lexical Ground is actually conceptualised as a Figure, thus highlighting a crucial similarity between the concepts of Figure and Ground as applied to locative expressions.
Publisher: Elsevier BV
Date: 07-2023
No related grants have been discovered for Kristy Kolc.