Browsing by Subject "ASD"

Now showing 1 - 3 of 3
  • Thumbnail Image
    Item
    Open Access
    Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
    (2020-09-01) de Vries, Petrus J; Belousova, Elena; Benedik, Mirjana P; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; D’Amato, Lisa; Beure d’Augères, Guillaume; Ferreira, José C; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O’Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Kingswood, J. Chris; Jansen, Anna C
    Abstract Background Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have unique, individual patterns that pose significant challenges for diagnosis, psycho-education, and intervention planning. A recent study suggested that it may be feasible to use TAND Checklist data and data-driven methods to generate natural TAND clusters. However, the study had a small sample size and data from only two countries. Here, we investigated the replicability of identifying natural TAND clusters from a larger and more diverse sample from the TOSCA study. Methods As part of the TOSCA international TSC registry study, this embedded research project collected TAND Checklist data from individuals with TSC. Correlation coefficients were calculated for TAND variables to generate a correlation matrix. Hierarchical cluster and factor analysis methods were used for data reduction and identification of natural TAND clusters. Results A total of 85 individuals with TSC (female:male, 40:45) from 7 countries were enrolled. Cluster analysis grouped the TAND variables into 6 clusters: a scholastic cluster (reading, writing, spelling, mathematics, visuo-spatial difficulties, disorientation), a hyperactive/impulsive cluster (hyperactivity, impulsivity, self-injurious behavior), a mood/anxiety cluster (anxiety, depressed mood, sleep difficulties, shyness), a neuropsychological cluster (attention/concentration difficulties, memory, attention, dual/multi-tasking, executive skills deficits), a dysregulated behavior cluster (mood swings, aggressive outbursts, temper tantrums), and an autism spectrum disorder (ASD)-like cluster (delayed language, poor eye contact, repetitive behaviors, unusual use of language, inflexibility, difficulties associated with eating). The natural clusters mapped reasonably well onto the six-factor solution generated. Comparison between cluster and factor solutions from this study and the earlier feasibility study showed significant similarity, particularly in cluster solutions. Conclusions Results from this TOSCA research project in an independent international data set showed that the combination of cluster analysis and factor analysis may be able to identify clinically meaningful natural TAND clusters. Findings were remarkably similar to those identified in the earlier feasibility study, supporting the potential robustness of these natural TAND clusters. Further steps should include examination of larger samples, investigation of internal consistency, and evaluation of the robustness of the proposed natural clusters.
  • Thumbnail Image
    Item
    Open Access
    Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers
    (2014-05-10) Eden, Kate E; de Vries, Petrus J; Moss, Jo; Richards, Caroline; Oliver, Chris
    Abstract Background Research reporting prevalence rates of self-injurious and aggressive behaviour in people with tuberous sclerosis complex (TSC) is limited. No studies have compared rates of these behaviours in TSC with those in other syndrome groups matched for degree of disability or investigated risk markers for these behaviours in TSC. Methods Data from the Challenging Behaviour Questionnaire were collected for 37 children, aged 4 to 15 years, with TSC. Odds ratios were used to compare rates of self-injury and aggression in children with TSC with children with idiopathic autism spectrum disorder (ASD), fragile X, Cornelia de Lange and Down syndromes. Characteristics were measured using the Mood Interest and Pleasure Questionnaire, the Activity Questionnaire, the Social Communication Questionnaire, the Repetitive Behaviour Questionnaire, the Wessex Behaviour Schedule and the revised Non-communicating Children Pain Checklist. Mann-Whitney U analyses were used to compare characteristics between individuals with self-injury and aggression and those not showing these behaviours. Results Rates of self-injury and aggression in TSC were 27% and 50%, respectively. These are high but not significantly different from rates in children with Down syndrome or other syndrome groups. Both self-injury and aggression were associated with stereotyped and pain-related behaviours, low mood, hyperactivity, impulsivity and repetitive use of language. Children who engaged in self-injury also had lower levels of interest and pleasure and showed a greater degree of ‘insistence on sameness’ than children who did not self-injure. Aggression was associated with repetitive behaviour. The majority of these associations remained significant when the association with level of adaptive functioning was controlled for. Conclusions Behavioural profiles can be used to identify those most at risk of developing self-injury and aggression. Further research is warranted to understand the influence of such internal factors as mood, ASD symptomatology and pain on challenging behaviour in people with intellectual disability.
  • Thumbnail Image
    Item
    Open Access
    Towards naturalistic developmental behavioural interventions for autism in Africa: nature and context of caregiver-child interactions in low-resource South African environments
    (2022) Ndlovu, Minkateko; de Vries, Petrus J; Franz, Lauren; Viljoen, Marisa
    Naturalistic developmental behavioural interventions (NDBI) are a group of evidence-based early interventions for autism spectrum disorders (ASD). Caregivers can be trained to deliver NDBI strategies during interactions with their young child with ASD. However, NDBI research predominantly comes from high-income countries, and the evidence base for NDBI in low/middle-income countries (LMICs) and across cultures is lacking. To understand the ‘fit' of an NDBI approach in LMICs, it is crucial to understand and be able to measure the nature of interactions between caregivers and their children with ASD and the context wherein caregiver-child interactions occur. This study sought a) to evaluate the utility of a specific measure of caregiver-child dyadic interactions and b) to examine daily routines in which caregiver-child interactions occurred in low-resource South African contexts. Methodology Children with ASD (between 18-72 months old) and their ≥18-year-old caregivers were recruited under a larger project. Interactions of 21 caregiver-child dyads were video-recorded using a standardised parent-child interaction (PCI) protocol with two 6-minute-long free-play sessions (Part I: child explored the room and available toys while the caregiver remained seated; Part II: caregiver interacted with their child as they would at home). Two research-reliable raters rated the videos using 16 items from the Joint Engagement Rating Inventory (JERI), a 7-point Likert scale behavioural coding system. Reliability and descriptive analyses were conducted. Structured interviews were conducted with ten caregivers using the Parent Survey of Home and Family Experiences (PSHFE) to explore the context of daily routines. Descriptive analyses were performed. Results For caregiver-child interactions, observer agreement for 12 of 16 items was reasonable, with weighted kappas (within 1 scale point) of 0.66-1, an estimated accuracy of 88-99%, and percentage agreements of 75-100% for all items. Ratings for items across Parts I and II of the JERI showed variability without any ceiling effects. Six items showed floor effects. Most caregiver item ratings were at the mid-point of the 7-point Likert scale. In Part II, children used more expressive language and paid more attention to their caregivers. On the PSHFE, most children participated daily in various child routines, play and early literacy activities with mothers as main partners. Most children never participated in spiritual and community activities, typically due to the child's age, safety and other reasons not specified in interview response categories. Conclusion Reliability, floor/ceiling, behavioural and Part I vs Part II profiles suggested that the JERI, used for the first time in a South African context, has potential utility both to describe caregiver-child interactions and be used as an intervention outcome measure in LMICs. The PSHFE results provided contextual data of common daily activities into which NDBI strategies could be embedded to support child generalisation of skills in South Africa.