Linda Elisabet Campbell

• PhD (Psychology)
• Lecturer at University of Newcastle Australia

This study investigated TYLES, an iPad app adapting a tile-matrix task to support facial expression recognition in autistic children. The main aims of the study were to create an engaging app, assess user engagement and gauge its appeal with this population. Fifteen autistic children and their caregivers participated. Children used the iPad app dai...

Communication and social skill difficulties are associated with 22q11.2 deletion syndrome (22q11.2DS). This review of studies focused on enhancing the communicative and social skills of people with 22q11.2DS informs evidence-based practice for this population. The present narrative review summarizes five intervention studies that targeted communica...

Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40-50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic homogeneity that can facilitate identification of genetic modifiers. Haploinsufficiency of TBX1, encoding a T-box transcription factor, is one o...

Background: Congenital heart disease (CHD) affecting the conotruncal region of the heart, occur in half of patients with 22q11.2 deletion syndrome. This syndrome is a rare disorder with relative genetic homogeneity that can facilitate identification of genetic modifiers. Haploinsufficiency of TBX1, mapped to the 22q11.2 region, encoding a T-box tra...

Infants diagnosed with autism spectrum disorder (autism) have difficulty engaging in social communication and interactions with others and often experience language impairment. The use of infant-directed speech (IDS), which is the speech register used when interacting with infants, is associated with infant language and socio-communicative developm...

Autism is a neurodevelopmental condition with associated difficulties that present differently across individuals. One such difficulty is recognizing basic and complex facial expressions. Research has previously found that there are many evidence-based support programs available for building non-verbal communication skills. These programs are frequ...

Objectives Differences in the development of autistic children have been observed within the first year of life. Infant siblings of autistic children who are later diagnosed with autism themselves have differences in temperament, social communication, attention, and sensory and motor behaviors by 12 months of age. However, less is known about the e...

Autistic children often have difficulties understanding non-verbal communication, specifically complex facial expressions. The current study aims to explore how an iPad application, which supports skill development in facial expression detection, is perceived my children and their families. A mixed method approach will be undertaken for data collec...

The aim of this review was to present the current state of e-technology support programs for social skills and determine the clinical efficacy and or/effectiveness across studies for people on the spectrum. A core trait for autistic people are difficulties with social communication. The largest support requested by school-aged people on the spectru...

22q11.2 deletion syndrome (22q11DS)—a neurodevelopmental condition caused by a hemizygous deletion on chromosome 22—is associated with an elevated risk of psychosis and other developmental brain disorders. Prior single-site diffusion magnetic resonance imaging (dMRI) studies have reported altered white matter (WM) microstructure in 22q11DS, but sma...

Background Temperament is an important construct that shapes child development. Temperament is suggested to present differently in different groups, such as children with neurodevelopmental disorders. However, it is not known whether there are specific temperament features associated with Autism Spectrum Disorder (ASD). Aim This systematic review...

The 22q11.2 deletion (22q11DS) is a common chromosomal microdeletion and a potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in 22q11DS, but were generally underpowered to characterize neuroanatomic abnormalities associated with psychosis in 22q11DS, and/or neuroanatomic effects of variability in deletion...

Objective: 22q11.2 deletion syndrome (22q11DS) is among the strongest known genetic risk factors for schizophrenia. Previous studies have reported variable alterations in subcortical brain structures in 22q11DS. To better characterize subcortical alterations in 22q11DS, including modulating effects of clinical and genetic heterogeneity, the author...

Background: 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome. Parents of emerging adults with 22q11DS have an intense and ongoing involvement in their child's life. This study explores the lived experience of parents in relation to their child becoming independent and establishing intimate relationships. Method: Inte...

The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have congenital heart disease, mostly of the conotruncal type (CTD), whereas others have normal cardiac anatomy. In this study, we tes...

Objective: We aimed to examine the prevalence and severity of psychological distress of women with asthma in both the prenatal and postnatal periods, and to determine whether asthmatic women with and without mental health problems differ in self-management, medications knowledge, and asthma symptoms. Methods: We assessed spirometry performance and...

Infant-directed speech (IDS) is the speech register used when interacting with infants. Pitch contours are a salient aspect of IDS and facilitate infant language and socio-communicative development. Little research investigates pitch contours within the context of socio-communication or language deficits, such as infants at high-risk (HR) for Autis...

Asthma affects pregnancy, and pregnancy affects asthma. These interrelationships affect the health of both mother and baby and have influences over the future health of the offspring.

The 22q11.2 deletion syndrome is caused by non‐allelic homologous recombination events during meiosis between low copy repeats (LCR22) termed A, B, C, and D. Most patients have a typical LCR22A‐D (AD) deletion of 3 million base pairs (Mb). In this report, we evaluated IQ scores in 1,478 subjects with 22q11.2DS. The mean of full scale IQ, verbal IQ,...

Background People with psychosis die on average 25 years earlier than those in the general population, with cardiovascular disease (CVD) contributing to much of the excess mortality. This cross-sectional study aimed to identify the relationship between lifestyle risk factors for CVD – poor nutrition, smoking and low physical activity levels – and d...

Objective: Maternal asthma during pregnancy is associated with a higher risk of negative perinatal outcomes. However, little is known about the direct effects of maternal asthma on infant cognitive development. We examined the evidence for an impact of maternal asthma during pregnancy on cognitive and behavioral development of the child. Data sou...

Background: The transition to adulthood is a major developmental milestone; a time of self-discovery and increased independence. For young adults (YA) with intellectual disabilities (ID), however, this period is especially challenging. The increased incidence of mental health disorders in this population, such as depression and anxiety, make this...

Parenting an adult child with autism spectrum disorder (ASD) who has intermittent outbursts of aggression may expose parents and other family members to potential physical threat and psychological distress including chronic hypervigilance. However, no known studies have explored the ‘lived’ experience of parenting an adult child diagnosed with ASD...

Objective: Parenthood is central to the personal and social identity of many people. For individuals with psychotic disorders, parenthood is often associated with formidable challenges. We aimed to identify predictors of adequate parenting among parents with psychotic disorders. Methods: Data pertaining to 234 parents with psychotic disorders li...

Background This phenomenological study explores the perceptions, hopes, and dreams of relationships and parenting of women with a genetic intellectual disability. Method Five women with both 22q11.2 deletion syndrome (22q11DS) and intellectual disability took part in semistructured interviews. Their subjective interpretations were analysed using in...

Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demons...

Background: 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome. However, there is little research examining the effect of this multisystem disorder on the family, particularly siblings. The current study was a phenomenological exploration of sense-making in siblings of a person with 22q11.2DS. Method: Interpretative...

Objective: Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this study was to identify additional genetic factors (i.e., "second hits") that may contribute to schizophrenia expression. Method: Through an international consortium, the authors obtained D...

The presentation of 22q11.2 deletion syndrome (22q11DS) is symptomatically variable, presenting diagnostic challenges for paediatricians and anxious uncertainty in parents. The ‘lived’ experience of parenting a small child diagnosed with 22q11DS is unknown particularly how parents make sense, both positive and negative, of their role. A phenomenolo...

We aimed to examine and compare sex-differences in people receiving treatment for psychotic illnesses in community settings, based on long or short duration of illness; expecting association between longer illness-duration and worse outcomes in women and men. Clinical, demographic and service-use data from the Survey of High Impact Psychosis were a...

The unique demands of the foster carer role are associated with high levels of self-reported stress among foster carers. The current study examines the amount of carer stress that can be attributed to certain role specific challenges and how stress from these challenges varies between carers and placements. As a secondary aim the study looks to exa...

This analysis aimed to examine the association of social dysfunction with food security status, fruit intake, vegetable intake, meal frequency and breakfast consumption in people with psychosis from the Hunter New England (HNE) catchment site of the Survey of High Impact Psychosis (SHIP). Social dysfunction and dietary information were collected us...

The current study looked at the association between infant temperament and mothers' infant-directed speech regarding adaptations to fundamental frequency () contours. contours regulate infant attention and affect, and are classified into four contours: rising, bell-shaped, slowly-falling, and rapidly-falling. Eight mother-infant dyads were recruite...

Objectives: 22q11.2 deletion syndrome (22q11DS), a complex genetic syndrome associated with more than 180 features, presents complex challenges for parents including gaining a diagnosis. This phenomenological study sought the "lived" interpretations of parents supporting an adult child with 22q11DS, a poorly researched area. Method: Interpretati...

Background People with 22q11.2 deletion syndrome (22q11DS) have difficulty processing social information including facial identity and emotion processing. However, difficulties with visual and attentional processes may play a role in difficulties observed with these social cognitive skills. Methods A cross-sectional study investigated visual perce...

Background: Social difficulties are often noted among people with intellectual disabilities. Children and adults with 22q.11.2 deletion syndrome (22q11DS) often have poorer social competence as well as poorer performance on measures of executive and social-cognitive skills compared with typically developing young people. However, the relationship...

22q11.2 deletion syndrome (22q11DS, velo-cardio-facial syndrome [VCFS]) is a genetic disorder associated with interstitial deletions of chromosome 22q11.2. In addition to high rates of neuropsychiatric disorders, children with 22q11DS have impairments of face processing, as well as IQ-independent deficits in visuoperceptual function and social and...

Mothers with borderline personality disorder (BPD) have disturbed relationships with their infants, possibly associated with poor nonverbal cue perception. Individuals with BPD are poor at recognizing emotion in adults and tend to misattribute neutral (i.e., no emotion) as sad. This study extends previous research by examining how mothers with BPD...

Systemising” and “Empathising” are two cognitive tendencies that individuals rely on to make sense of the world. Systemising involves the observation of environmental contingencies and the consequent formulation of concrete rules to predict events. Empathising is the drive to attribute affective states to others, and to guide responses based on the...

Research demonstrates that people living with serious mental illness (SMI) contend with widespread public stigma; however, little is known about the specific experiences of stigma that mothers, and in particular fathers, with SMI encounter as parents. This study aimed to explore and compare the experiences of stigma for mothers and fathers with SMI...

Background 22q11.2 deletion syndrome (22q11DS) is associated with a number of physical anomalies and neuropsychological deficits including impairments in executive and sensorimotor function. It is estimated that 25% of children with 22q11DS will develop schizophrenia and other psychotic disorders later in life. Evidence of genetic transmission of i...

Background Research suggests children with genetic disorders exhibit greater coping skills when they are aware of their condition and its heritability. While the experiences parents have at diagnosis may influence their decision to disclose the diagnosis to their children, there is little research into this communication. The aim of the current stu...

Objective: Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion synd...

The Systemiser-Empathiser (S-E) theory of autism proposes two divergent strategies that underpin behaviour. ‘Systemising’ involves the observation of environmental contingencies, and the consequent formulation of concrete rules to predict events. ‘Empathising’ is the drive to attribute affective states to others, and to guide responses based on the...

Individuals with developmental disorders frequently report a range of social cognition deficits including difficulties identifying facial displays of emotion. This study examined the specificity of face emotion processing deficits in adolescents with either autism or 22q11DS compared to typically developing (TD) controls. Two tasks (face emotion re...

22q11.2 deletion syndrome (22q11DS) has a complex phenotype with more than 180 characteristics, including cardiac anomalies, cleft palate, intellectual disabilities, a typical facial morphology, and mental health problems. However, the variable phenotype makes it difficult to predict clinical outcome, such as the high prevalence of psychosis among...

Objective: Being a parent is an important part of one's identity and role. Previous research outlines many challenges associated with parenting by people with severe mental illness. However, there is a limited research describing parenting experiences of mothers and fathers who have psychosis. Method: The second Australian national survey of psy...

Background: Social inclusion is a key priority of the Fourth National Mental Health Plan for Australia (2009-2014), with strong evidence for its protective impact on mental health. Social integration has been associated with enhanced well-being for people with mental illnesses such as psychosis. Objective: To explore the impact of psychosis on a...

People with 22q11.2 deletion syndrome (22q11DS) have deficits in face emotion recognition. However, it is not known whether this is a deficit specific to faces, or represents maladaptive information processing strategies to complex stimuli in general. This study examined the specificity of face emotion processing deficits in 22q11DS by exploring re...

Social dysfunction is intrinsically involved in severe psychiatric disorders such as depression and psychosis and linked with poor theory of mind. Children with 22q11.2 deletion syndrome (22q11DS, or velo-cardio-facial syndrome) have poor social competence and are also at a particularly high risk of developing mood (40%) and psychotic (up to 30%) d...

Young people with 22q11 Deletion Syndrome (22q11DS) are at substantial risk for developing psychosis and have significant differences in white matter (WM) volume. However, there are few in vivo studies of both WM microstructural integrity (as measured using Diffusion Tensor (DT)-MRI) and WM volume in the same individual. We used DT-MRI and structur...

Velo-cardio-facial syndrome or 22q11.2 deletion syndrome (22q11DS) is the most common known microdeletion syndrome. One of the genes in the deleted region is the catechol-O-methyltransferase (COMT) gene, which is thought to have significant effects on cognition through its influence on dopamine metabolism. The aim of the present study was to better...

Previous research demonstrates that people with 22q11.2 deletion syndrome (22q11DS) have social and interpersonal skill deficits. However, the basis of this deficit is unknown. This study examined, for the first time, how people with 22q11DS process emotional face stimuli using visual scanpath technology. The visual scanpaths of 17 adolescents and...

We investigated structural brain morphology of intellectually disabled children with Williams (WS) syndrome and its relationship to the behavioural phenotype. We compared the neuroanatomy of 15 children (mean age:13+/-2) with WS and 15 age/gender-matched healthy children using a manual region-of-interest analysis to measure bulk (white+grey) tissue...

We investigated structural brain morphology of intellectually disabled children with Williams (WS) syndrome and its relationship to the behavioural phenotype. Methods: We compared the neuroanatomy of 15 children (mean age:13 ± 2) with WS and 15 age/gender-matched healthy children using a manual region-of-interest analysis to measure bulk (white + g...

22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with a microdeletion of chromosome 22q11. In addition to high rates of neuropsychiatric disorders such as schizophrenia and attention deficit hyperactivity disorder, children with 22q11DS have a specific neuropsychological profile with particular deficits in visuospatial and worki...

22q11.2 deletion syndrome (22q11DS) is associated with intellectual disability, poor social interaction and a high prevalence of psychosis. However, to date there have been no studies comparing cognition and neuroanatomical characteristics of 22q11DS with other syndromes to investigate if the cognitive strengths and difficulties and neuroanatomical...

Feedforward inhibition deficits have been consistently demonstrated in a range of neuropsychiatric conditions using prepulse inhibition (PPI) of the acoustic startle eye-blink reflex when assessing sensorimotor gating. While PPI can be recorded in acutely decerebrated rats, behavioural, pharmacological and psychophysiological studies suggest the in...

Functional brain imaging of auditory prepulse inhibition - Volume 18 Issue 6 - L Campbell, TW Budd, R Fulham, M Hughes, F Karayanidis, M-C Hanlon, W Stojanov, P Johnston, U Schall

In people with velo-cardio-facial syndrome [or 22q11.2 deletion syndrome (22qDS)], a single interstitial deletion of chromosome 22q11.2 causes a wide spectrum of cognitive deficits ranging from global learning difficulties to specific cognitive deficits. People with 22qDS are also at high risk of developing attention-deficit/hyperactivity disorder...

Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an experienced clinical geneticist even before a clinical examination and genotyping are undertaken. Previously, using visualization and pattern recognition, we showed that dense surface models (DSMs) of full face shape characterize facial dysmorphology in Noon...

Introduction, A major challenge in both clinical practice and research in the field of intellectual disabilities and of learning disorders is to identify the underlying causes: the genetic, chromosomal, and environmental factors that have important influences on a person's development and behavior. Advances in clinical genetics have led to an incre...

Dense surface models can be used to analyze 3D facial morphology by establishing a correspondence of thousands of points across each 3D face image. The models provide dramatic visualizations of 3D face-shape variation with potential for training physicians to recognize the key components of particular syndromes. We demonstrate their use to visualiz...

VCFS, a genetic disorder characterised by congenital heart disease, borderline learning disability and schizophrenia, is associated with variably sized deletions of 22q11. In this study, our aim was to characterise the cognitive profile in VCFS children. We recruited 8 children (6-16 years) and 8 age matched sibling controls. The VCFS group had a m...