Dr Joanna Moss
Academic and research departmentsFaculty of Health and Medical Sciences, School of Psychology, Development, Education, Language and Outreach in Psychology (DevELOP) Research Group.
I completed my PhD at the University of Birmingham in 2005. I then worked as a research fellow at the institute of Psychology Psychiatry and Neuroscience and then at the Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham before joining the University of Surrey as a lecturer in 2019. My research is primarily focused on understanding the prevalence, profile and social-cognitive mechanisms underpinning the development of autism and related characteristics in individuals with genetic syndromes. My research and related impact activities has been funded by the British Academy, Baily Thomas Charitable Fund, Leverhulme Trust, Newlife Foundation for Disabled Children, Economic and Social Research Council, Cerebra and Cornelia de Lange Syndrome Foundation.
My research is primarily focused on understanding the prevalence, profile and social-cognitive mechanisms underpinning the development of autism and related characteristics in individuals with genetic syndromes. My work combines detailed behavioural description with in-depth profiling of social-cognitive abilities. This combination of 'real world' behavioural observation of clinical populations alongside the evaluation of social-cognition skills presents a novel research approach within the behavioural phenotypes and social-cognition literature.
My research to date has spanned a wide array of rare genetic syndromes using a broad range of methodologies: large scale survey, direct observation, eye tracking, EEG, cognitive and behavioural assessment, experimental functional analysis, diagnostic assessment, genotype-phenotype correlations and qualitative methodology.
I am Co-Chair of the Scientific and Clinical Advisory Team for the Cornelia de Lange Syndrome Foundation UK and Ireland and a member of the Scientific Advisory Committee for the International Federation for Cornelia de Lange Syndrome. I have also previously held the roles of executive committee member of the Society for the Study of Behavioural Phenotypes (SSBP; 2005 to 2015) and member of the ASD-UK research committee (2016 to 2018).
My research has been funded by the British Academy, Baily Thomas Charitable Fund, Leverhulme Trust, Newlife Foundation for Disabled Children, Economic and Social Research Council, Cerebra and Cornelia de Lange Syndrome Foundation.
If you are interested in studying for a PhD with me please get in touch.
I teach on the Developmental Psychology modules of the Undergraduate Psychology course.
My office hours for students are Mondays 10am-12pm
Self-injurious behaviours, such as head banging, hair pulling, skin picking and scratching, are common in individuals with autism. Despite high prevalence rates, there is a paucity of longitudinal research to refine models of risk and mechanism and inform service planning. In this longitudinal study, we investigated self-injury in a cohort of individuals with autism over 10 years to identify behavioural and demographic characteristics associated with persistent self-injury.
Carers of 67 individuals with autism completed questionnaires relating to the presence of self-injury and relevant risk markers at T 1 (mean [SD] age in years 13.4 [7.7]) and T 3 (mean [SD] age in years 23.9 [7.7]) 10 years later. Forty-six of these also took part at T 2 (3 years after initial participation). Analysis assessed demographic and behavioural risk markers for self-injury, as well as the predictive value of items assessed at T 1and T 2.
Self-injury was persistent in 44% of individuals over the 10-year period, with behavioural characteristics of impulsivity (p <.001) and overactivity (p =.002), identified as risk markers for persistence. A predictive model of self-injury was derived from LASSO analysis, with baseline impulsivity, interest and pleasure, stereotyped behaviour, social communication and adaptive functioning predicting self-injury over 10 years.
In this unique longitudinal investigation into the persistence of self-injury in a non-clinical sample of individuals with autism over a 10 year period, we have identified a novel, robust and stable profile of behavioural characteristics associated with persistent self-injury. Findings support an early intervention strategy targeted towards individuals identified to be at a higher risk of developing self-injurious behaviour.
Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with SMC1A variants.
We performed an international, interdisciplinary study on 51 individuals with SMC1A variants. Results of questionnaire studies are compared to those in individuals with Down Syndrome and with Autism Spectrum Disorder. Results on cognition and self-injurious behaviour (SIB) are compared to those in individuals with CdLS caused by NIPBL variants. For Dutch participants with SMC1A variants we performed direct in-person assessments of cognition, autism, and added an interview and questionnaire on adaptive behaviour and sensory processing.
Individuals with SMC1A variants show a higher cognitive level and less SIB than individuals with NIPBL variants. Individuals with SMC1A variants without classic CdLS phenotype but with a Rett-like phenotype show more severe intellectual disability and more SIB compared to those with a CdLS phenotype. Autism is less present if outcomes in direct in-person assessments are evaluated taking developmental level into account compared to results based on a questionnaire.
Behaviour in individuals with CdLS should be evaluated taking genetic cause into account. Detailed interdisciplinary approaches are of clinical importance to inform tailored care and may eventually improve quality of life of patients and families.
Hyperactivity and repetitive behaviour are characteristic features of fragile X syndrome (FXS). However, little is known about the influence of autism symptomatology on how these characteristics develop over time. We investigate the profiles and developmental trajectories of overactivity, impulsivity and repetitive behaviour, in males with FXS over three time points spanning 8 years.
Participants formed two subgroups, those who displayed elevated symptoms of autism at Time 1 (n = 37; Mage = 16.32; age range = 6.61-43.51) and those who did not (n = 32; Mage = 8.43; age range = 8.94-47.49).
Participants without elevated symptoms of autism showed a reduction in impulsivity and repetitive questioning over time, whereas those with elevated symptoms of autism did not. Differences between the two subgroups in several topographies of repetitive behaviour emerged at Time 3 only.
These results further understanding of the relationship between autistic phenomenology and behavioural characteristics in FXS.
Depressive symptomology and low affect are comparatively common in individuals with genetic disorders such as Cornelia de Lange syndrome. However, lifespan trajectories and associated person characteristics have not been examined. In this study, the trajectories for affect and associated behavioural characteristics were investigated in individuals with Cornelia de Lange syndrome with individuals with fragile X syndrome (FXS) comparable for chronological age and total number of behavioural indicators of ASD included for the purpose of contrast.
A 7-year longitudinal study of affect (mood, interest and pleasure) was conducted in individuals with CdLS (n = 44) and FXS (n = 95). The trajectories of low affect were explored, as well as associations between Time 1 behavioural characteristics and affect at Time 1 and Time 3 (7 years later).
The CdLS group were lower in mood than the FXS group overall (p <.001 interest="" and="" pleasure="" scores="" showed="" a="" significant="" decline="" over="" the="" lifespan="" for="" individuals="" with="" cdls="" but="" not="" fxs="" group.="" lower="" level="" of="" ability="" at="" time="" was="" associated="" mood="" in="" group="" only.="" higher="" levels="" asd="" symptomology="" were="" low="" both="" syndrome="" groups="" greater="" insistence="" on="" sameness=""> Conclusions:
Low affect in specific genetic syndromes may be associated with differing lifespan trajectories and behavioural profiles. Specifically, individuals with CdLS appear at risk for experiencing declines in levels of interest and pleasure whereas individuals with FXS show no significant change in the level of affect with age.
Background: It is well documented that mothers of children with intellectual disabilities or autism experience elevated stress, with mental health compromised. However, comparatively little is known about mothers of children with rare genetic syndromes. This study describes mental health and well-being in mothers of children with 13 rare genetic syndromes and contrasts the results with mothers of children with autism.
Methods: Mothers of children with 13 genetic syndromes (n = 646; Angelman, Cornelia de Lange, Down, Fragile-X, Phelan McDermid, Prader-Willi, Rett, Rubenstein Taybi, Smith Magenis, Soto, Tuberous Sclerosis Complex, 1p36 deletion and 8p23 deletion syndromes) and mothers of children with autism (n = 66) completed measures of positive mental health, stress and depression. Using Bayesian methodology, the influence of syndrome, child ability, and mother and child age were explored in relation to each outcome. Bayesian Model Averaging was used to explore maternal depression, positive gain and positive affect, and maternal stress was tested using an ordinal probit regression model.
Results: Different child and mother factors influenced different aspects of mental well-being, and critically, the importance of these factors differed between syndromes. Maternal depression was influenced by child ability in only four syndromes, with the other syndromes reporting elevated or lower levels of maternal depression regardless of child factors. Maternal stress showed a more complex pattern of interaction with child ability, and for some groups, child age. Within positive mental health, mother and child age were more influential than child ability. Some syndromes reported comparable levels of depression (SMS, 1p36, CdLS) and stress (SMS, AS) to mothers of children with autism.
Conclusions:Bayesian methodology was used in a novel manner to explore factors that explain variability in mental health amongst mothers of children with rare genetic disorders. Significant proportions of mothers of children with specific genetic syndromes experienced levels of depression and stress similar to those reported by mothers of children with autism. Identifying such high-risk mothers allows for potential early intervention and the implementation of support structures.
Background: Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its behavioural phenotype is in its infancy. In this study, reported behavioural and psychological characteristics of individuals with PTHS were investigated in comparison with the reported behaviour of age-matched individuals with Angelman syndrome (AS) and Cornelia de Lange syndrome (CdLS).
Methods: Questionnaire data were collected from parents/caregivers of individuals with PTHS (n = 24), assessing behaviours associated with autism spectrum disorder (ASD), sociability, mood, repetitive behaviour, sensory processing, challenging behaviours and overactivity and impulsivity. For most measures, data were compared to data for people with AS (n = 24) and CdLS (n = 24) individually matched by adaptive ability, age and sex. Results: Individuals with PTHS evidenced significantly higher levels of difficulties with social communication and reciprocal social interaction than individuals with AS, with 21 of 22 participants with PTHS meeting criteria indicative of ASD on a screening instrument. Individuals with PTHS were reported to be less sociable with familiar and unfamiliar people than individuals with AS, but more sociable with unfamiliar people than individuals with CdLS. Data also suggested areas of atypicality in sensory experiences. Challenging behaviours were reported frequently in PTHS, with self-injury (70.8%) occurring at significantly higher rates than in AS (41.7%) and aggression (54.2%) occurring at significantly higher rates than in CdLS (25%). Individuals with PTHS also evidenced lower reported mood than individuals with AS.
Conclusions: Behaviours which may be characteristic of PTHS include those associated with ASD, including deficits in social communication and reciprocal social interaction. High rates of aggression and self-injurious behaviour compared to other genetic syndrome groups are of potential clinical significance and warrant further investigation. An atypical sensory profile may also be evident in PTHS. The specific aetiology of and relationships between different behavioural and psychological atypicalities in PTHS, and effective clinical management of these, present potential topics for future research.
Individuals with Cornelia de Lange syndrome (CdLS) have been reported to show comparatively high levels of flat and negative affect but there have been no empirical evaluations. In this study, we use an objective measure of facial expression to compare affect in CdLS with that seen in Cri du Chat syndrome (CDC) and a group of individuals with a mixed aetiology of intellectual disabilities (ID).
Observations of three groups of 14 children with CdLS, CDC and mixed aetiology of ID were undertaken when a one-to-one interaction was ongoing. Results: There was no significant difference between the groups in the duration of positive, negative or flat affect. However, the CdLS group displayed a significantly lower ratio of positive to negative affect than children in the other groups.
This difference partially confirms anecdotal observations and could be due to the expression of pain caused by health problems associated with CdLS or neurological expression of the CdLS gene in facial muscles related to expression of positive affect. However, further research is needed to directly test these possible associations.