Publications by authors named "Lauren Shelley"

7 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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http://dx.doi.org/10.1002/ajmg.a.62867DOI Listing
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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http://dx.doi.org/10.1016/j.neubiorev.2022.104719DOI Listing
July 2022

Utilising Interview Methodology to Inform the Development of New Clinical Assessment Tools for Anxiety in Autistic Individuals Who Speak Few or no Words.

J Autism Dev Disord 2022 Mar 18. Epub 2022 Mar 18.

Department of Psychology, College of Health and Life Sciences, Aston University, Birmingham, B4 7ET, UK.

Autistic individuals with intellectual disability who speak few or no words are at high risk of anxiety but are underrepresented in research. This study aimed to describe the presentation of anxiety in this population and discuss implications for the development of assessments. Interviews were conducted with 21 parents/carers of autistic individuals and nine clinicians. Data were analysed using content analysis and interpretative phenomenological analysis. Anxiety behaviours described by parents/carers included increased vocalisation, avoidance and behaviours that challenge. Changes to routine were highlighted as triggering anxiety. Clinicians discussed the importance of identifying an individual's baseline of behaviour, knowing an individual well and ruling out other forms of distress. This study raises considerations for early identification of anxiety and for subsequent support.
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http://dx.doi.org/10.1007/s10803-022-05509-yDOI Listing
March 2022

A Review of the NANN Research Summit Experience: Continuing to Promote a Platform for Research and Clinical Inquiry.

Adv Neonatal Care 2022 Feb;22(1):52-58

Children's Wisconsin, Milwaukee (Dr Esser); JoAnn McGrath School of Nursing and Health Professions, Alverno College, Milwaukee, Wisconsin (Dr Esser); National Association of Neonatal Nurses (Ms Shelley); and College of Nursing, University of Nebraska Medical Center, Omaha, Nebraska (Dr Moore).

Background: The NANN Research Summit has been providing a platform for neonatal scholarship and clinical inquiry for 15 years. As the discipline of nursing and nursing research continue to evolve, it is important to gain perspective on current trends and needs for areas of strength and growth.

Purpose: To evaluate participant outcomes of the NANN Research Summit and determine opportunities for improvement.

Methods: A 9-question survey was sent to 90 past participants for the Research Summit years 2015-2019.

Results: Thirty-seven (41%) participants from 2015 to 2019 responded. Of those responding, 75% continued to pursue their presentation topic; 95% felt empowered to continue their research based on their Summit experience; 84% felt more comfortable presenting their research findings after attending; 84% felt confident in publishing research after attending the Summit, with 43% reporting publications. These accomplished results would not have been possible without Mead Johnson's support. In addition, 57% did not publish the work presented and 65% lacked continued mentorship.

Implications For Practice: A redesigned Summit is presented to address the priorities for growth and alignment with continued emphasis on collegiality among neonatal nurse scholars. The redesigned Summit will promote continued clinical inquiry as a result of intentional focus on mentorship and development of scholarship.

Implications For Research: The data collected from this initial survey will continue to serve as the basis for future data collection. Continued evaluation of strengths and areas for growth including the number of publications and mentorship experience can lead to expansion of research for the Summit facilitators and participants.
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http://dx.doi.org/10.1097/ANC.0000000000000851DOI Listing
February 2022

Genetic modifiers in rare disorders: the case of fragile X syndrome.

Eur J Hum Genet 2021 01 29;29(1):173-183. Epub 2020 Aug 29.

Department of Psychology, Saint Joseph's University, Philadelphia, PA, USA.

Methods employed in genome-wide association studies are not feasible ways to explore genotype-phenotype associations in rare disorders due to limited statistical power. An alternative approach is to examine relationships among specific single nucleotide polymorphisms (SNPs), selected a priori, and behavioural characteristics. Here, we adopt this strategy to examine relationships between three SNPs (5-HTTLPR, MAOA, COMT) and specific clinically-relevant behaviours that are phenotypic of fragile X syndrome (FXS) but vary in severity and frequency across individuals. Sixty-four males with FXS participated in the current study. Data from standardised informant measures of challenging behaviour (defined as physical aggression, property destruction, stereotyped behaviour, and self-injury), autism symptomatology, attention-deficit-hyperactivity-disorder characteristics, repetitive behaviour and mood/interest and pleasure were compared between each SNP genotype. No association was observed between behavioural characteristics and either 5-HTTLPR (serotonin) or MAOA (monoamine oxidase) genotypes. However, compared to the COMT (dopamine) AG and GG genotypes, the AA genotype was associated with greater interest and pleasure in the environment, and with reduced risk for property destruction, stereotyped behaviour and compulsive behaviour. The results suggest that common genetic variation in the COMT genotype affecting dopamine levels in the brain may contribute to the variability of challenging and repetitive behaviours and interest and pleasure in this population. This study identifies a role for additional genetic risk in understanding the neural and genetic mechanisms contributing to phenotypic variability in neurodevelopmental disorders, and highlights the merit of investigating SNPs that are selected a priori on a theoretical basis in rare populations.
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http://dx.doi.org/10.1038/s41431-020-00711-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7852869PMC
January 2021

Curtin University: a contemporary Master of Clinical Physiotherapy (sports) 'down under' (continuing professional development series).

Br J Sports Med 2019 May 22;53(10):605-606. Epub 2018 Aug 22.

School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1136/bjsports-2018-099522DOI Listing
May 2019

Clinical Benefit in Response to Palbociclib Treatment in Refractory Uterine Leiomyosarcomas with a Common Alteration.

Oncologist 2017 04 10;22(4):416-421. Epub 2017 Mar 10.

Hematology and Oncology, Norwalk Hospital, Western Connecticut Health Network, Norwalk, Connecticut, USA

Background: Uterine leiomyosarcoma (uLMS) responds poorly to conventional chemotherapeutic agents, and personalized therapies have yet to be systematically explored. Comprehensive genomic profiling (CGP) can identify therapeutic targets and provide insight into the biology of this highly aggressive tumor. We report a case of uLMS treated with the CGP-matched therapy palbociclib, a CDK4/6 inhibitor, with sustained clinical benefit in this rare and deadly malignancy.

Materials And Methods: This study analyzed 279 clinically advanced/recurrent uLMS samples. Median patient age was 54 years (range, 23-83 years). DNA was extracted from 40 ┬Ám of formalin-fixed, paraffin-embedded sections, and CGP was performed on hybridization-captured, adaptor ligation-based libraries for up to 405 cancer-related genes plus introns from up to 31 genes frequently rearranged in cancer. Sequencing data were analyzed for base pair substitutions, insertions/deletions, copy number alterations, and rearrangements.

Results: CGP shows that 97.1% of uLMS harbor at least one alteration, and approximately 57% harbor alterations in one or more therapeutically targetable pathways. mutations that inactivate p16INK4a were identified in 11% of uLMS. We report the first demonstration of clinical benefit in response to palbociclib treatment for a uLMS patient with a mutation, resulting in disease stabilization and significant symptom reduction.

Conclusion: A patient with uLMS harboring a mutation experienced clinical benefit from treatment with palbociclib, and genomic analysis of 279 uLMS samples revealed that 19% of patients had mutations affecting the cyclin-dependent kinase (CDK) pathway. These observations provide a rationale for a clinical trial investigating treatment with CDK pathway inhibitors for uLMS harboring relevant genomic alterations. 2017;22:416-421 Comprehensive genomic profiling (CGP) of individuals with uterine leiomyosarcoma (uLMS) indicates that nearly 20% of patients may harbor a mutation affecting the cyclin-dependent kinase (CDK) pathway. The case presented demonstrates that a CDK inhibitory drug may provide clinical benefit to such individuals. Given the lack of curative therapies for uLMS, CGP could be performed on all cases of advanced uLMS and a CDK inhibitor could be recommended (preferably as part of a clinical trial) for individuals harboring a mutation in the CDK pathway.
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http://dx.doi.org/10.1634/theoncologist.2016-0310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388371PMC
April 2017
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