Diane S. Willis

Bio: Diane S. Willis is an academic researcher from Edinburgh Napier University. The author has contributed to research in topics: Population & Cancer. The author has an hindex of 11, co-authored 26 publications receiving 529 citations. Previous affiliations of Diane S. Willis include University of Glasgow.

A decade on: what have we learnt about supporting women with intellectual disabilities through the menopause?

Abstract: Carr and Hollins highlighted the paucity of research on the menopause in women with intellectual disabilities and, 10 years on, this area still remains poorly researched. Work exploring the age of onset of the menopause has suggested that the menopause is earlier in this group of women, but studies exploring what women with intellectual disabilities understand and experience during the menopause are limited. In this study 15 women with mild to moderate intellectual disabilities were interviewed using a semi-structured interview on a one-to-one basis about their knowledge and understanding of the menopause. Findings revealed limited accessible information about the menopause and a paucity in the women's knowledge and understanding about the menopause. This suggests a need for more accessible information, in order to increase understanding and awareness of the menopause in these women.

Understanding of facial expressions of emotion by children with intellectual disabilities of differing aetiology.

Abstract: Background Interpreting emotional expressions is a socio-cognitive skill central to interpersonal interaction. Poor emotion recognition has been reported in autism but is less well understood in other kinds of intellectual disabilities (ID), with procedural differences making comparisons across studies and syndromes difficult. This study aimed to compare directly facial emotion recognition skills in children with fragile X syndrome (FXS), Down's syndrome (DS) and non-specific intellectual disability (NSID), contrasting ability and error profiles with those of typically developing (TD) children of equivalent cognitive and linguistic status. Methods Sixty children participated in the study: 15 FXS, 15 DS, 15 NSID and 15 TD children. Standardised measures of cognitive, language and socialisation skills were collected for all children, along with measures of performance on two photo-matching tasks: an ‘identity-matching’ task (to control for basic face-processing ability) and an ‘emotion-matching’ task (happiness, sadness, anger, surprise, fear or disgust). Results Identity-matching ability did not differ across the four child groups. Only the DS group performed significantly more poorly on the emotion-matching task and only in comparison to the TD group, with fear recognition an area of particular difficulty. Conclusion Findings support previous evidence of emotion recognition abilities commensurate with overall developmental level in children with FXS or NSID, but not DS. They also suggest, however, that syndrome-specific difficulties may be subtle and detectable, at least in smaller-scale studies, only in comparison with TD matches, and not always across syndromes. Implications for behavioural phenotype theory, educational interventions and future research are discussed.

Collaborative learning: comparison of outcomes for typically developing children and children with intellectual disabilities.

Abstract: Collaborative learning is widely used in mainstream education but rarely utilized with children who have intellectual disabilities, possibly on the assumption that the metacognitive skills on which it capitalizes are less likely to be available. Effects of collaborative learning experience on a core cognitive skill, sorting by category, were investigated in three child groups: typically developing (TD) children, children with nonspecific intellectual disabilities (NSID) and children with Down syndrome (DS). Following collaboration, sorting performance improved significantly in lower ability partners in TD–TD pairings, with this pattern reversed in NSID–NSID pairings. Neither partner improved significantly in DS–NSID pairings, suggesting that the sociability attributed to children with DS did not necessarily support either their or their partner's learning in this social context.

Systematic review: cultural adaptation and feasibility of screening for autism in non-English speaking countries.

Abstract: Screening children for autism has gained wider acceptance within clinical practice, and early intervention has improved outcomes. Increasingly, adapting an existing screening instrument is a common, fast method to create a usable screening tool, especially for countries with limited resources and/or expertise. However, concerns have been raised regarding adaptation adequacy and the feasibility of screening across cultural groups. This study systematically examined the levels of cultural adaptation and feasibility aspects considered when screening for autism in non-English speaking countries to build upon the sparse knowledge that exists on this topic in the literature. Nineteen studies, obtained from five electronic databases, were examined. PRISMA guidance was used for this review. The Ecological Validity Framework model, and Bowen Recommendations for Feasibility were adopted to extract relevant data, which was synthesised narratively. Cultural adaptation within the included studies mostly involved language translation with little information offered to enable conclusions on how the processes were guided and maintained. Few cultural adjustments involved modifying screening methods; clarifying difficult concepts and changing instrument content were employed to address the core values, competence, beliefs, and norms of the adapted culture. However, less attention was given to adapt the screening goals within the context of cultural values, and customs or to consider interactional match between the clients and assessors. The review also highlighted an acceptable level of practicality to screen for autism but did not encourage integrating autism screening within routine practice or beyond the study context for different cultures. Concurring with previous literature, we agree that knowledge on cultural adaptation for autism screening instruments is limited and not sufficiently documented to establish adaptation levels (process and/or contents), and prove adequacy. However, this review provides an infrastructure to improve future adaptation processes. Integrating autism screening as routine medical practice is not encouraged and warrants further feasibility studies to minimize wasted resources and improve screening effectiveness in various health care systems.

Facial emotion recognition in autism spectrum disorders: a review of behavioral and neuroimaging studies.

Abstract: Behavioral studies of facial emotion recognition (FER) in autism spectrum disorders (ASD) have yielded mixed results. Here we address demographic and experiment-related factors that may account for these inconsistent findings. We also discuss the possibility that compensatory mechanisms might enable some individuals with ASD to perform well on certain types of FER tasks in spite of atypical processing of the stimuli, and difficulties with real-life emotion recognition. Evidence for such mechanisms comes in part from eye-tracking, electrophysiological, and brain imaging studies, which often show abnormal eye gaze patterns, delayed event-related-potential components in response to face stimuli, and anomalous activity in emotion-processing circuitry in ASD, in spite of intact behavioral performance during FER tasks. We suggest that future studies of FER in ASD: 1) incorporate longitudinal (or cross-sectional) designs to examine the developmental trajectory of (or age-related changes in) FER in ASD and 2) employ behavioral and brain imaging paradigms that can identify and characterize compensatory mechanisms or atypical processing styles in these individuals.

Ubiquitin-like protein activation by E1 enzymes: the apex for downstream signalling pathways

Abstract: Attachment of ubiquitin or ubiquitin-like proteins (known as UBLs) to their targets through multienzyme cascades is a central mechanism to modulate protein functions. This process is initiated by a family of mechanistically and structurally related E1 (or activating) enzymes. These activate UBLs through carboxy-terminal adenylation and thiol transfer, and coordinate the use of UBLs in specific downstream pathways by charging cognate E2 (or conjugating) enzymes, which then interact with the downstream ubiquitylation machinery to coordinate the modification of the target. A broad understanding of how E1 enzymes activate UBLs and how they selectively coordinate UBLs with downstream function has come from enzymatic, structural and genetic studies.

A comprehensive compilation of SUMO proteomics

Abstract: Small ubiquitin-like modifiers (SUMOs) are essential for the regulation of several cellular processes and are potential therapeutic targets owing to their involvement in diseases such as cancer and Alzheimer disease. In the past decade, we have witnessed a rapid expansion of proteomic approaches for identifying sumoylated proteins, with recent advances in detecting site-specific sumoylation. In this Analysis, we combined all human SUMO proteomics data currently available into one cohesive database. We provide proteomic evidence for sumoylation of 3,617 proteins at 7,327 sumoylation sites, and insight into SUMO group modification by clustering the sumoylated proteins into functional networks. The data support sumoylation being a frequent protein modification (on par with other major protein modifications) with multiple nuclear functions, including in transcription, mRNA processing, DNA replication and the DNA-damage response.

SUMO1-dependent modulation of SERCA2a in heart failure

Abstract: The calcium-transporting ATPase ATP2A2, also known as SERCA2a, is a critical ATPase responsible for Ca(2+) re-uptake during excitation-contraction coupling. Impaired Ca(2+) uptake resulting from decreased expression and reduced activity of SERCA2a is a hallmark of heart failure. Accordingly, restoration of SERCA2a expression by gene transfer has proved to be effective in improving cardiac function in heart-failure patients, as well as in animal models. The small ubiquitin-related modifier (SUMO) can be conjugated to lysine residues of target proteins, and is involved in many cellular processes. Here we show that SERCA2a is SUMOylated at lysines 480 and 585 and that this SUMOylation is essential for preserving SERCA2a ATPase activity and stability in mouse and human cells. The levels of SUMO1 and the SUMOylation of SERCA2a itself were greatly reduced in failing hearts. SUMO1 restitution by adeno-associated-virus-mediated gene delivery maintained the protein abundance of SERCA2a and markedly improved cardiac function in mice with heart failure. This effect was comparable to SERCA2A gene delivery. Moreover, SUMO1 overexpression in isolated cardiomyocytes augmented contractility and accelerated Ca(2+) decay. Transgene-mediated SUMO1 overexpression rescued cardiac dysfunction induced by pressure overload concomitantly with increased SERCA2a function. By contrast, downregulation of SUMO1 using small hairpin RNA (shRNA) accelerated pressure-overload-induced deterioration of cardiac function and was accompanied by decreased SERCA2a function. However, knockdown of SERCA2a resulted in severe contractile dysfunction both in vitro and in vivo, which was not rescued by overexpression of SUMO1. Taken together, our data show that SUMOylation is a critical post-translational modification that regulates SERCA2a function, and provide a platform for the design of novel therapeutic strategies for heart failure.