
Dr Joanna Moss
Academic and research departments
Faculty of Health and Medical Sciences, School of Psychology, Development, Education, Language and Outreach in Psychology (DevELOP) Research Group.About
Biography
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 Academy of Medical Sciences, 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 UK and Ireland. Please visit my research lab website for more information: www.ndevresearchlab.com
ResearchResearch interests
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, Cornelia de Lange Syndrome Foundation UK and Ireland and the Academy of Medical Sciences.
If you are interested in studying for a PhD with me please get in touch.
Research interests
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, Cornelia de Lange Syndrome Foundation UK and Ireland and the Academy of Medical Sciences.
If you are interested in studying for a PhD with me please get in touch.
Teaching
I teach on the first and second year Developmental Psychology modules of the Undergraduate Psychology course.
I convene and teach the final year Undergraduate Psychology module on Neurodevelopmental Disorders.
Publications
Purpose of Review Elevated prevalence of autism characteristics is reported in genetic syndromes associated with intellectual disability. This review summarises recent evidence on the behavioural heterogeneity of autism in the following syndromes: Fragile X, Cornelia de Lange, Williams, Prader-Willi, Angelman, Down, Smith-Magenis, and tuberous sclerosis complex. Key considerations for assessment and support are discussed. Recent Findings The profile and developmental trajectory of autism-related behaviour in these syndromes indicate some degree of syndrome specificity which may interact with broader behavioural phenotypes (e.g. hypersociability), intellectual disability, and mental health (e.g. anxiety). Genetic subtype and co-occurring epilepsy within syndromes contribute to increased significance of autism characteristics. Autism-related strengths and challenges are likely to be overlooked or misunderstood using existing screening/diagnostic tools and criteria, which lack sensitivity and specificity within these populations. Summary Autism characteristics are highly heterogeneous across genetic syndromes and often distinguishable from non-syndromic autism. Autism diagnostic assessment practices in this population should be tailored to specific syndromes. Service provisions must begin to prioritise needs-led support.
Background Anxiety symptomatology is common in individuals with intellectual disability (ID). Symptomatology includes both traditional Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) anxiety disorders and autism spectrum disorder (ASD)-related anxiety traits. Some genetic disorders such as Cornelia de Lange (CdLS) and fragile X syndromes (FXS) are at very high risk of anxiety and afford the opportunity to examine prevalence, profiles and associated person characteristics. However, prevalence and associated characteristics of anxiety in these high-risk groups remain poorly described and understood. The aim of the current study was to examine the prevalence and profile of DSM-5 and ASD-related anxiety symptomatology in individuals with CdLS and FXS and associated behavioural and cognitive characteristics. Methods Questionnaires and interviews assessing DSM-5 and ASD-related anxiety were conducted with caregivers of individuals with CdLS (n = 49) and FXS (n = 36). Results DSM-5 anxiety symptomatology was present in both groups with high co-morbidity across anxiety diagnoses. ASD-related anxiety was also prevalent with specific difficulties related to intolerance of uncertainty identified in both groups. Symptomatology was persistent over the lifespan for both groups. Anxiety type was partially associated with repetitive behaviour but not measures of overall ASD phenomenology in CdLS. Conclusions DSM-5 and ASD-related anxiety are common in these high-risk syndromes associated with ID. Prospective syndrome specific presentations and associations, which may implicate specific underlying mechanisms, are discussed. Clinicians should be aware of the risk and difficulties involved in assessment of anxiety in individuals with ID, including atypical types, to ensure these individuals do not "miss" diagnoses and support in general clinical practice.
While previous reviews have extended descriptions of the behavioural phenotype of Cornelia de Lange syndrome (CdLS) significantly, potential changes with age across the lifespan have been neglected. Age-related difference in the behavioural phenotype constitutes preliminary evidence of change with age. Documenting and understanding the developmental trajectories of behaviours is informative as it enables identification of risk periods for behavioural challenges and compromised mental health.
Research on women with the fragile-X premutation (FX-p) has been underrepresented within the field of behavioural phenotypes. To understand whether the FX-p confers risk for autistic traits, depression and anxiety, independent of maternal status. In study 1, mothers of children with fragile-X syndrome (M-FXp; n = 51, mean age 43 years (s.d. = 5.80)) were compared with mothers of autistic children (M-ASD; n = 59, mean age 42 (s.d. = 5.80)), mothers of children with Smith-Magenis syndrome (M-SMS; n = 27, mean age 39 (s.d. = 7.20)) and mothers of typically developing children (M-TD; n = 44, mean age 40 (s.d. = 4.90)). In study 2, the M-FXp group were compared with non-mothers with the FX-p (NM-FXp; n = 17, mean age 32 (s.d. = 9.20)), typically developed non-mothers (NM-TD; n = 28, mean age 31 (s.d. = 6.80)) and the M-TD group. All participants completed an online survey, including measures of IQ, autistic traits, anxiety, depression and positive affect. In study 1: the M-FXp group reported more autistic traits than the M-TD group (P < 0.05, η2 = 0.046). Anxiety and parental stress were elevated in the M-FXp, M-SMS and M-ASD groups relative to the M-TD group (all P ≤ 0.003, η2 = 0.079-0.322). In study 2: a main effect of premutation status indicated that women with the FX-p report elevated autistic traits and anxiety (P ≤ 0.007, η2 = 0.055-0.060); this did not interact with maternal status. The findings indicate that women with the FX-p show an increased risk for autistic traits and anxiety. This risk is specific to the presence of the FX-p and is not fully accounted for by maternal status or the stress of caring for children with neurodevelopmental disorders.
Background Individuals with genetic syndromes show unique profiles of repetitive behaviours and restricted interests (RRBs). The executive dysfunction account of RRBs suggests that in autistic (AUT) individuals executive function impairments underpin RRBs, but not communication and social interaction autistic characteristics. Aims To 1) describe profiles of behavioural manifestations of executive function (EF behaviours) and 2) explore the relationship between EF behaviours and autistic traits across individuals with Cornelia de Lange (CdLS), fragile X (FXS) and Rubinstein-Taybi syndromes (RTS), and AUT individuals. Method Carers completed the Behavior Rating Inventory of Executive Function – Preschool Version and the Social Communication Questionnaire. Data reporting on 25 individuals with CdLS (Mage = 18.60, SD = 8.94), 25 with FXS (Mage = 18.48, SD = 8.80), 25 with RTS (Mage = 18.60, SD = 8.65) and 25 AUT individuals (Mage = 18.52, SD = 8.65) matched on chronological age and adaptive ability were included in analyses. Results All groups showed impairments across EF behaviours compared to two-to-three-year-old typically developing normative samples with no differences between groups. Different EF behaviours predicted RRBs in the syndrome groups with no associations found in the AUT group. Conclusions Syndrome related differences should be considered when developing targeted interventions that focus on EF behaviours and/or RRBs in these groups.
BackgroundAggressive behaviours are common inpeople with neurodevelopmental conditions,contributing to poorer quality of life and placementbreakdown. However, there is limited empiricalresearch documenting the prevalence and persistenceof aggressive behaviours in autism. In thislongitudinal study, aggressive behaviours wereinvestigated in a sample of autistic individuals over10years.MethodsCaregivers of autistic individuals, both withand without intellectual disability, completedquestionnaires relating to the presence of aggressivebehaviours atT1[N=229, mean age in years11.8,standard deviation (SD)5.9],T2(T1+3years,N=81, mean age in years15.1,SD5.9) andT3(T1+10years,N=54, mean age in years24.5,SD8.1). Analyses examined the presence and persistenceof aggressive behaviours and the predictive value ofestablished correlates of aggression.ResultsAggressive behaviours were common atbaseline (61.6%) but only persistent in30% of thesample over10years. Higher composite scores ofoveractivity and impulsivity atT1were significantlyassociated with the persistence of aggressivebehaviours atT2(P=0.027) andT3(P=0.012) withmedium effect size.ConclusionsAggressive behaviours are common inautism, but reduce with age. Behavioural correlates ofattention deficit hyperactivity disorder(ADHD) predict the presence and persistence ofaggressive behaviour and as such may be usefulclinical indicators to direct proactive interventionresources to ameliorate aggressive behaviours.Keywordsaggressive behaviours, autism,impulsivity, overactivity, persistence, prevalenceBackgroundThe term‘aggressive behaviours’is a broad term thatencompasses behaviours that inflict social, emotionaland physical harm (Farmer & Aman2011). In thiscontext, the term is not intended to imply that theperson showing the behaviour is intending to hurtanother person, but simply that these kinds ofbehaviours have the potential to cause harm. Physicalaggression is common and predicts deleteriousoutcomes for individuals with neurodevelopmentalconditions such as autism (Fitzpatricket al.2016),including an increased likelihood of admission toresidential facilities, physical abuse from caregivers,caregiver burnout, isolation and lower quality of life(Lakin1983; Stormshaket al.1999; Stithet al.2009;1Correspondence: Dr Catherine Laverty, School of Psychology,University of Birmingham,52Pritchatts Road, Edgbaston,Birmingham B15 2TT, UK (e-mail:c.laverty@bham.ac.uk).Journal of Intellectual Disability Researchdoi: 10.1111/jir.13004VOLUME PART©2023The Authors. Journal of Intellectual Disability Research published by MENCAP and International Association of theScientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License,which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial andno modifications or adaptations are made.bs_bs_banner
Unique socio-behavioural phenotypes are reported for individuals with different neurodevelopmental disorders. Here, the effects of adult familiarity and nature of interaction on social anxiety and social motivation were investigated in individuals with fragile X (FXS; n = 20), Cornelia de Lange (CdLS; n = 20) and Rubinstein-Taybi (RTS; n = 20) syndromes, compared to individuals with Down syndrome (DS; n = 20). The Social Anxiety and Motivation Rating Scale was employed whilst participants completed four social tasks, each administered separately by a familiar adult, and also by an unfamiliar adult. Compared to participants with DS, those with FXS and RTS exhibited high levels of social anxiety but similar levels of social motivation. Participants with CdLS showed heightened social anxiety and reduced social motivation only during interactions with an unfamiliar adult when active participation was voluntary.
Age-related behavioural change in Cornelia de Lange syndrome is poorly understood. We report a 7Â year follow-up study of adaptive behaviour, autism spectrum disorder symptomatology, language skills and behavioural characteristics in 30 individuals with Cornelia de Lange syndrome, compared with 18 individuals with Cri du Chat syndrome. The proportion of individuals with Cornelia de Lange syndrome meeting criteria for autism spectrum disorder on the Autism Diagnostic Observation Schedule increased, although patterns of change were complex. For both syndrome groups, absolute levels of adaptive ability were stable and receptive language improved, suggesting that changes over time do not result from an overall decline in ability. Reliable change index scores indicate heterogeneity within both groups in the occurrence of improvement or decline.
Background: 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. Methods: 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). Results: The CdLS group were lower in mood than the FXS group overall (p
Psychopathology is prevalent in Williams (WS), fragile X (FXS) and Prader-Willi (PWS) syndromes. However, little is known about the potential correlates of psychopathology in these groups. A questionnaire study was completed by 111 caregivers of individuals with WS (n = 35); FXS (n = 50) and PWS (n = 26). Mean age was 26 years (range 12-57 years); 74 (67%) were male. Multiple regression analyses indicated that higher rates of health problems and sensory impairments predicted higher psychopathology in WS (p
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.
Background: 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). Method: 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. Discussion: 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.
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.
Background: 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. Methods: 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. Results: 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. Conclusions: 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.
Background: 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. Method: 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). Results: 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. Conclusions: These results further understanding of the relationship between autistic phenomenology and behavioural characteristics in FXS.
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.
Introduction: 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. Methods: 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. Results: 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. Conclusions: 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.
Additional publications
Perry V, Ellis K, Moss J, Beck SR, Singla G, Crawford H, Waite J, Richards C and Oliver C. (In Press). Executive function, repetitive behaviour and restricted interests in neurodevelopmental. Research Developmental Disabilities.
Sloneem, J, Moss, J, Powell, S, Hawkins, C, Fosi, T, Richardson, H & Aylett, S. (2021). The prevalence and profile of autism in Sturge-Weber Syndrome. Journal of Autism and Developmental Disorders. doi: https://doi.org/10.1007/s10803-021-05062-0
Marlborough, M., Welham, A., Jones, C., Reckless, S., & Moss, J. (2021). Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence. Journal of neurodevelopmental disorders, 13(1), 28. https://doi.org/10.1186/s11689-021-09362-5
Pearson, E., Nielsen, E., Kita, S., Groves, L., Nelson, L., Moss, J. & Oliver, C. (2021). Low speech rate but high gesture rate during conversational interaction in people with Cornelia de Lange syndrome. Journal of Intellectual Disability Research. https://doi.org/10.1111/jir.12829
Oliver, C., Adams, D., Allen, D., Crawford, C., Heald, M., Moss, J., Richards, C., Waite, J., Welham, J., Wilde, L., and Woodcock, K. (2020). The behaviour and wellbeing of children and adults with severe intellectual disability and complex needs: the Be-Well checklist for carers and professionals, Paediatrics and Child Health, 30(12) 416-424. https://doi.org/10.1016/j.paed.2020.09.003
Ellis K, Oliver C, Stefanidou C, Apperly I & Moss J (2020). An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes. Journal of Autism and Developmental Disorders, 10.1007/s10803-020-04440-4
Crawford H, Moss J, Groves L, Dowlen R, Nelson L, Reid D & Oliver C (2019). A behavioural assessment of social anxiety and social motivation in fragile X, Cornelia de Lange and Rubinstein-Taybi syndromes. Journal of Autism and Developmental Disorders. doi: 10.1007/s10803-019-04232-5
Watkins A, Bissell S, Moss J, Oliver C, Clayton-Smith J, Haye L, Heald M & Welham A (2019). Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes. Journal of Neurodevelopmental Disorders.
Adams D, Hastings RP, Alston-Knox C, Cianfaglione R, Eden K, Felce D, Griffith G D, Moss J, Stinton C & Oliver C. (2018). Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children. Orphanet Journal of Rare Diseases, 13, 185.
Crawford H, Moss J, Stinton C, Singla G & Oliver C. (2018). Overactivity, impulsivity and repetitive behaviour in males with fragile X syndrome: contrasting developmental trajectories in those with and without elevated autism symptoms. Journal of Intellectual Disability Research, 62, 672-683.
Bell LR, Oliver C, Wittkowski A, Moss J & Hare DJ (2018). Attenuated behaviour in Cornelia de Lange and Fragile X syndromes: Presence and association with features of autism. Journal of Intellectual Disability Research, 62, 486-495
Adams D, Clarke S, Griffith G, Howlin P, Moss J, Petty J, Tunnicliffe P & Oliver C (2018). Mental health and well-being in mothers of children with rare genetic syndromes showing chronic challenging behavior: A cross-sectional and longitudinal study. American Journal on Intellectual and Developmental Disabilities, 123, 241-253.
Wilde L, Wade K, Eden K, Moss J, de Vries PJ & Oliver C (2018). Persistence of self-injury, aggression and property destruction in children and adults with tuberous sclerosis complex. Journal of Intellectual Disability Research. DOI: 10.1111/jir.12472
Waite J, Rose J, Wilde L, Eden K, Stinton C, Moss J & Oliver C (2017). Associations between behaviours that challenge in adults with intellectual disability, parental perceptions and parental mental health. British Journal of Clinical Psychology, 57, 133. DOI: 10.1111/bjc.12146
Reid D, Moss J, Nelson L, Groves L & Oliver C (2017). Executive Function in Cornelia de Lange syndrome: Domain asynchrony and age related performance. Journal of Neurodevelopmental Disorders, 9, 29. doi.org/10.1186/s11689-017-9208-7
Waite J, Rose J, Wilde L, Eden K, Stinton C, Moss J & Oliver C (2017). Associations between challenging behaviour in adults with intellectual disability, parental perceptions and parental mental health, British Journal of Clinical Psychology,56, 408-430.
Moss, J., Penhallow, J., Ansari, M., Barton, S., Bourn, D., FitzPatrick, D. R., ... & Oliver, C. (2017). Genotype–phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age. American Journal of Medical Genetics Part A, 173(6), 1566-1574.
Moss J (2016). Commentary on ‘Prevalence of autism and ADHD in Down syndrome: a population-based study’ by Oxelgren et al. Developmental Medicine and Child Neurology. 59.240
Warner G, Salamone E, Moss J, Charman T & Howlin P (2016). Profiles of children with Down syndrome who meet screening criteria for autism spectrum disorder: a comparison with children with autism. Journal of Intellectual Disability Research.61. 75-82.
Wilde L, Eden K, de Vries PJ, Moss J, Welham A & Oliver C (2016). Self-injury and aggression in adults with tuberous sclerosis complex: frequency, associated person characteristics, and implications for assessment. Research in Developmental Disabilities, 64, 119-130.
Crawford H, Moss J, Oliver C, Elliott N, Anderson GM & McCleery JP (2016). Visual Orienting Preferences for Social versus Non-Social Stimuli in Individuals with Autism or Other Neurodevelopmental Disorders. Molecular Autism, 7:24. DOI: 10.1186/s13229-016-0084-x
Moss J, Nelson L, Powis L, Richards C, Waite J & Oliver C (2016) A comparative study of sociability in Angelman, Cornelia de Lange, Fragile X and Rubinstein Taybi syndromes and autism spectrum disorder. American Journal of Intellectual and Developmental Disabilities, 121:6.
Sheth K, Moss J, Hyland S, Stinton C, Cole T & Oliver C (2015). Behavioral characteristics of Soto syndrome. American Journal of Medical Genetics, 167, 2945-2956.
Welham A, Barth G, Penhallow J, Moss J, Sheth K, Wild L, Wynn S & Oliver C (2015). Behavioral characteristics associated with 19p13.2 microdeletions. American Journal of Medical Genetics, 167, 2334-2343.
Crawford HR, Moss J, Anderson G, Oliver C & McCleery JP (2015). Implicit discrimination of basic facial expressions of positive/negative emotion in Fragile X syndrome and Autism Spectrum Disorder. American Journal on Intellectual and Developmental Disabilities, 120, 328-345.
Cochran L, Moss J, Nelson L & Oliver C (2015). Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X and Cri du Chat syndromes: Results from a 2.5 year follow up. American Journal of Medical Genetics, Part C. 169, 188-197.
Waite J, Moss J, Beck S, Arron K, Burbidge C, Berg K & Oliver C (2015). Repetitive behavior in Rubinstein-Taybi Syndrome: Parallels with autism spectrum phenomenology Journal of Autism and Developmental Disorders, 45, 1238-1253.
Welham A, Lau J, Moss J, Cullen J, Higgs S, Warren G, Wilde L, Marr F, Cook F & Oliver C (2015). Are Angelman and Prader‐Willi syndromes more similar than we thought? Food‐related behavior problems in Angelman, Cornelia de Lange, Fragile X, Prader‐Willi and 1p36 deletion syndromes. American Journal of Medical Genetics Part A, 167, 572-578.
Warner G, Moss J, Smith P & Howlin P (2014). Autism characteristics and behaviour disturbances in 500 children with Down’s syndrome in England and Wales. Autism Research, 7, 433-441.
Eden K, de Vries PJ, Moss J, Richards C & Oliver C (2014). Self injury and aggression in Tuberous Sclerosis Complex; cross syndrome comparison and associated risk markers. Journal of Neurodevelopmental Disorders, 6, 1-11.
Nelson L, Moss J & Oliver C (2014). A longitudinal study of affect in children and adults with Cornelia de Lange syndrome. American Journal on Intellectual and Developmental Disabilities, 119, 235-252.
Oliver C, Adams D, Allen D, Bull L, Heald M, Moss J, Wilde L & Woodcock K. (2013). Causal models of clinically significant behaviors in Angelman, Cornelia de Lange, Prader-Willi and Smith-Magenis syndromes. International Review of Research in Developmental Disabilities, 44, 167-212.
Moss J, Richards C, Nelson L & Oliver (2013). Prevalence of Autism Spectrum Disorder symptomatology and related behaviours in persons with Down syndrome. Autism, 17, 390-404
Moss J, Howlin P, Hastings R, Beaumont S, Griffith G, Petty J, Tunnicliffe P, Yates R, Villa D & Oliver C (2013). Social behavior and characteristics of Autism Spectrum Disorder in Angelman, Cornelia de Lange and Cri du Chat syndromes. American Journal of Intellectual and Developmental Disabilities. 118, 262-283.
Moss J, Oliver C, Richards C, Nelson L, & Hall S (2013). Delineating autism spectrum disorder characteristics in Cornelia de Lange and Fragile X syndromes. American Journal on Intellectual and Developmental Disabilities, 118, 55-73.
Richards C, Nelson L, Moss J & Oliver C (2012). Self-injurious behaviour in individuals with autism spectrum disorder and intellectual disability. Journal of Intellectual Disability Research, 56, 476-489.
Moss J, Magiati I, Howlin P and Oliver C (2012). Characteristics of autism spectrum disorder in Cornelia de Lange syndrome. Journal of Child Psychology and Psychiatry, 53, 883-891.
Hoddell J, Moss J, Woodcock K & Oliver C (2011). Further refinement of the nature of the communication impairment in Cornelia de Lange syndrome. Journal of Mental Health Research in Intellectual Disabilities, 5, 15-25.
Oliver C, Berg K, Moss J, Arron K & Burbidge C (2011). Delineation of behavioural phenotypes in genetic syndromes. Comparison of autism spectrum disorder, affect and hyperactivity. Journal of Autism and Developmental Disorders, 41, 1019-1032
Magiati I, Moss J, Charman T & Howlin P (2011). Patterns of change in children with Autism Spectrum Disorders who received community based comprehensive interventions in their pre-school years: a seven year follow up study. Research in Autism Spectrum Disorders, 5, 1016-1027.
Magiati I, Moss J, Yates R, Charman T & Howlin (2011). Is the Autism Treatment Evaluation Checklist (ATEC) a useful tool for monitoring progress in children with Autism Spectrum Disorders? Journal of Intellectual Disability Research, 55, 302-312. Listed within the top ten downloads in JIDR in 2011 with 1359 full text downloads.
Griffith GM, Hastings RP, Howlin P, Moss J, Oliver C, Petty J & Tunnicliffe P (2011). Psychological distress and well-being in mothers and fathers of children with Angelman, Cornelia de Lange and Cri du Chat syndromes. Journal of Intellectual Disability Research, 55, 397-410.
Griffith GM, Hastings RP, Nash S, Petalas M, Howlin P, Moss J, Oliver C, Petty J & Tunnicliffe, P (2011). ‘You have to sit and explain it all, and explain yourself’. Mothers experiences of caring for an adult with a rare genetic intellectual disability syndrome. Journal of Genetic Counseling, 20, 165-177.
Arron K, Oliver C, Berg K, Moss J & Burbidge C (2011). Delineation of behavioural phenotypes in genetic syndromes. Prevalence, phenomenology and correlates of self-injurious and aggressive behaviour. Journal of Intellectual Disability Research, 55, 109-120.
Burbidge C, Oliver C, Moss J, Arron K, Berg K, Hill L, Trusler K & Furniss F (2010). The association between repetitive behaviours, impulsivity and hyperactivity in people with intellectual disability. Journal of Intellectual Disability Research, 54, 1078-1092.
Moss J & Howlin P (2009). Invited Annotation - Autism spectrum disorders in genetic syndromes: Implications for diagnosis, intervention and understanding the wider ASD population. Journal of Intellectual Disability Research, 53, 852-872. 3rd most cited and 4th most downloaded article published in JIDR for 2010 with 1249 full text downloads.
Richards C, Moss J, O’Farrell L, Kaur G & Oliver C (2009). Social anxiety in Cornelia de Lange syndrome. Journal of Autism and Developmental Disorders, 39, 1155-1162.
Moss J, Oliver C, Arron K, Burbidge C & Berg K (2009).The prevalence and phenomenology of repetitive behaviour in genetic syndromes. Journal of Autism and Developmental Disorders, 39, 572-588.
Moss J, Oliver C, Berg K, Kaur G, Jephcott L & Cornish K (2008). Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes. American Journal of Mental Retardation, 113, 278-291.
Moss J, Magiati I, Charman T & Howlin P (2008). Stability of the Autism Diagnostic Interview- Revised from pre-school to elementary school in children with autism spectrum disorders. Journal of Autism and Developmental Disorders, 38, 1081-1091.
Collis L, Moss J, Jutley J, Cornish K & Oliver C (2008). Facial expression of affect in Cornelia de Lange syndrome. Journal of Intellectual Disability Research, 52, 207-215.
Berg K, Arron K, Burbidge C, Moss J & Oliver C (2007). Carer reported contemporary health problems in people with severe learning disability and genetic syndromes. Journal of Policy and Practice in Intellectual Disabilities, 4, 120-128.
Moss J, Oliver C, Hall S, Arron K, Sloneem J & Petty J (2005). The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome. Journal of Intellectual Disability Research, 49, 269-277.