Publications by authors named "Effie Pearson"

5 Publications

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The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature.

Am J Med Genet A 2022 Sep 21;188(9):2536-2554. Epub 2022 Jun 21.

School of Psychology, College of Health and Life Sciences, Aston University, Birmingham, UK.

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 characteristics, elucidating the behavioral phenotype of RTS. The reporting of this review was informed by PRISMA guidelines. A systematic search of CINAHL, Medline, and PsychINFO was carried out in March 2021 to identify group studies describing behavioral, cognitive, emotional, psychiatric, and social characteristics in RTS. The studies were quality appraised. Characteristics reported include repetitive behavior, behaviors that challenge, intellectual disability, mental health difficulties, autism characteristics, and heightened sociability. Findings were largely consistent across studies, indicating that many characteristics are likely to form part of the behavioral phenotype of RTS. However, methodological limitations, such as a lack of appropriate comparison groups and inconsistency in measurement weaken these conclusions. There is a need for multi-disciplinary studies, combining genetic and psychological measurement expertise within single research studies. Recommendations are made for future research studies in RTS.
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September 2022

Prevalence of anxiety symptomatology and diagnosis in syndromic intellectual disability: A systematic review and meta-analysis.

Neurosci Biobehav Rev 2022 07 2;138:104719. Epub 2022 Jun 2.

The School of Psychology, College of Health and Life Sciences, Aston University, UK. Electronic address:

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 groups whilst accounting for methodological quality of studies. This systematic review and meta-analysis aimed to fill this gap. Prior to review completion, methodology and analysis plans were registered and documented in a protocol (CRD42019123561). Data from 83 papers, involving a pooled sample of 13,708 across eight syndromes were synthesised using a random effects model. Anxiety prevalence ranged from 9 % (95 % CI: 4-14) in Down syndrome to 73% in Rett syndrome (95 % CI: 70-77). Anxiety prevalence across syndromic intellectual disability was higher than for intellectual disability of mixed aetiology and general population estimates. Substantial variability between syndromes identified groups at higher risk than others. The identification of high-risk groups is crucial for early intervention, allowing us to refine models of risk and identify divergent profiles.
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July 2022

The adaptive functioning profile of Pitt-Hopkins syndrome.

Eur J Med Genet 2021 Sep 24;64(9):104279. Epub 2021 Jun 24.

School of Psychology, University of Birmingham, Birmingham, UK; Department of Neuroscience, Psychology and Behaviour, University of Leicester, UK.

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 Adaptive Behavior Scales-II.

Results: The profile of adaptive functioning in PTHS was characterised by strengths in socialisation, followed by motor skills, communication then daily living skills. The PTHS group scored significantly lower than the non-deletion AS group on all domains except socialisation and significantly lower than the deletion AS group, for motor skills only.

Conclusions: An uneven adaptive behavior profile for individuals with PTHS mirrors that of AS, with implications for assessment and intervention.
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September 2021

Anxiety in autistic individuals who speak few or no words: A qualitative study of parental experience and anxiety management.

Autism 2021 02 1;25(2):429-439. Epub 2020 Oct 1.

Aston University, UK.

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 effectiveness for autistic individuals with intellectual disability. In this study, we aimed to learn more about parent/carers experiences of recognising and managing anxiety in autistic individuals who use few or no words. We conducted semi-structured interviews with parents and carers to address three research questions: (1) what techniques and management strategies do parents describe for anxiety-related behaviour in their child; (2) how do communication difficulties impact parental understanding and management of anxiety provoking situations and behaviours; (3) what is the impact of anxiety-related behaviours on the quality of life of autistic individuals and their families? During the interviews, parents described difficulties recognising anxiety in their child, mostly due to reduced verbal language use and anxiety behaviours overlapping with other behaviours (e.g. autism characteristics). However, parents also described use of a number of management strategies, including some which overlap with components of evidence-based interventions for emotional and behavioural problems in autistic individuals (e.g. exposure/sensory calming). Despite this, parents reported that anxiety continues to have significant impact on quality of life. We will use the findings of this study to inform future research to develop assessment tools and interventions for anxiety in autistic individuals who use few or no words.
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February 2021

Communication in Angelman syndrome: a scoping review.

Dev Med Child Neurol 2019 11 10;61(11):1266-1274. Epub 2019 May 10.

Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.

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. Seventeen articles investigating the broader communication profile were found; their methodology was evaluated against quality criteria.

Results: Despite the absence of speech, individuals with Angelman syndrome have a wide repertoire of non-verbal communicative behaviours, mainly characterized by gestures, although advanced forms such as symbolic communication are used by some individuals. The use of communicative forms differs between the genetic aetiologies of Angelman syndrome; individuals with non-deletion aetiologies typically have greater communicative abilities.

Interpretation: The broader communication profile of Angelman syndrome is characterized by diverse and multimodal abilities, including some use of symbolic forms of communication that appears atypical given the absence of speech. This is suggestive of a probable dissociation between speech and other expressive forms of communication, indicating an isolated speech production impairment. This highlights a need in this population for alternative communication and specific input from services tailored to support the nuances of the communication profile of Angelman syndrome.

What This Paper Adds: Although absent speech is near universal, a diverse profile of other communicative abilities has been reported. Parental reporting has been predominantly used to assess the communication profile of Angelman syndrome. Literature that investigates the specificities and possible dissociations in such a communication profile is limited.
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November 2019