Effie Pearson

Effie Pearson
Aston University · School of Life and Health Sciences

MSci PhD

About

12
Publications
2,152
Reads
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33
Citations
Additional affiliations
October 2019 - present
University of Birmingham
Position
  • PostDoc Position
January 2019 - October 2019
University of Birmingham
Position
  • Research Assistant
September 2015 - September 2018
University of Birmingham
Position
  • PhD Student
Education
September 2011 - July 2015
University of Birmingham
Field of study
  • Psychology

Publications

Publications (12)
Article
Rubinstein–Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facial characteristics, microcephaly, developmental delay, broad thumbs, and big toes. Most research on RTS has focused on the genotype and physical phenotype; however, several studies have described behavioral, cognitive, social, and emotional chara...
Article
Full-text available
Individuals with syndromic intellectual disability are at increased risk of experiencing anxiety. Comparing prevalence estimates of anxiety will allow the identification of at-risk groups and inform causal pathways of anxiety. No known study has explored estimates of anxiety symptomatology and diagnosis, including specific anxiety profiles, across...
Preprint
Full-text available
Background There is a need for evidence-based approaches to reduce anxiety experienced by autistic children with severe to profound intellectual disability (ID). Avoidance of anxiety triggers, as a response to pronounced anxiety, occurs irrespective of age, background and neurodiversity. When avoidance is unhelpful, evidence-based anxiety reduction...
Preprint
Background There is a need for evidence-based approaches to reduce anxiety experienced by autistic children with severe to profound intellectual disability (ID). Avoidance of anxiety triggers, as a response to pronounced anxiety, occurs irrespective of age, background and neurodiversity. When avoidance is unhelpful, evidence-based anxiety reduction...
Article
Background: There are few cohort studies describing the adaptive functioning profile for Pitt-Hopkins syndrome (PTHS). In this study we examine the adaptive functioning profile for PTHS and compare it to Angelman syndrome (AS). Method: Caregivers of 14 individuals with PTHS, 33 with deletion AS and 23 with non-deletion AS, completed the Vineland...
Article
Background Cornelia de Lange syndrsome (CdLS) is a rare genetic syndrome with notable impaired expressive communication characterised by reduced spoken language. We examined gesture use to refine the description of expressive communication impairments in CdLS. Methods During conversations, we compared gesture use in people with CdLS to peers with...
Article
Abstract Background. The assessment of depression in people with severe to profound intellectual disability (severe-profound ID) is challenging, primarily due to inability to report internal states such as mood, feelings of worthlessness and suicidal ideation. This group also commonly presents with challenging behaviours (e.g. aggression, self-inju...
Article
Full-text available
Lay abstract: Anxiety is a common condition in autistic individuals, including those who also have an intellectual disability. Despite this, autistic individuals who have severe to profound intellectual disability, or use few or no words, are often excluded from autism research. There are also very few assessment tools and interventions with known...
Conference Paper
Background: Angelman syndrome (AS) is caused by deletion or inactivation of UBE3A. Minimal or absent speech is a core characteristic, and there is a suggested dissociation between speech and non‐verbal communication abilities, proposing an isolated speech production impairment in AS. Given that for both typical and clinical populations the emergenc...
Article
Full-text available
Aim A scoping review was conducted to examine and evaluate empirical data on the communication profile of Angelman syndrome beyond the described dissociation between receptive language and speech. Method Three databases (PsycINFO, Embase, and Web of Science) were searched to retrieve articles investigating communication in Angelman syndrome. Seven...
Conference Paper
Background: Angelman syndrome (AS) is caused by deletion or alteration of gene UBE3A. Speech is absent for all genetic causes regardless of cognitive ability; however, it is not known if other forms of expressive communication are affected. By examining the communication profile of deletion and non‐deletion genetic causes, we can ascertain whether...
Article
Full-text available
Background: Due to the rarity of some genetic syndromes, information about these syndromes may be difficult for parents of children who are affected to access. Moreover, with specific behavioural phenotypes and these syndromes often being aggregated in large cohort studies, individual differences in informational needs and support across syndromes...

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