Petrus J De Vries

University of Cape Town | UCT · Department of Psychiatry and Mental Health

Background Tuberous sclerosis complex (TSC)–associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of TSC. Although TAND affects 90% of individuals with TSC during their lifetime, these manifestations are relatively under-assessed,...

Most autism research has been conducted in high-income countries, with participants typically from White, upper-middle-income families. Given the disparities experienced by autistic individuals living in underserved communities globally, there is a critical need for research to include individuals from culturally, linguistically, socioeconomically,...

Background Current work in the field point to the need to strengthen child and adolescent mental health services (CAMHS) globally, and especially in low- and middle-income countries (LMICs). Policy development, planning and service provision must be relevant to the needs of stakeholders at grassroots level, and should include their perspectives. Th...

Background The South African education system is increasingly unable to meet the growing needs of children with autism spectrum disorder (ASD). Recent studies in the Western Cape, one of the better resourced provinces in South Africa, showed that the pathway to care for children with ASD was an inconsistent and lengthy process, and that many childr...

Digital technologies have the potential to empower individuals with autism and their families. The COVID-19 pandemic emphasized and accelerated the drive towards technology for information, communication, training, clinical care and research, also in the autism community. However, 95% of individuals with autism live in low- and middle-income countr...

There is a large assessment and treatment gap in child and adolescent mental health services, prominently so in low- and middle-income countries, where 90% of the world’s children live. There is an urgent need to find evidence-based interventions that can be implemented successfully in these low-resource contexts. This pre-pilot study aimed to expl...

Background :Child and adolescent mental health services (CAMHS) should be strengthened globally, and especially in low- and middle-income countries (LMICs). Policy development, planning and service provision should be relevant to the needs of stakeholders at grassroots level, and should therefore include their perspectives. This study set out to ex...

This study aimed to examine the factor structure of the Strengths and Difficulties Questionnaire Self‐Report version (SDQ‐S), its psychometric properties and measurement invariance by gender and language spoken at home, among secondary school students in Western Cape, South Africa. A sample of 3,542 adolescents in Grade 8 (Mean age = 13.7 years) co...

Introduction Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder with various TSC-Associated Neuropsychiatric Disorders (TAND) that significantly impact the mental health and wellbeing of individuals with TSC and their caregivers. TAND represents the number one concern to families worldwide, yet is highly under-identified and under-...

Background Even though child and adolescent mental health is a global health priority, services are very limited, particularly in low- and middle-income countries (LMIC), and therefore need comprehensive strengthening. This requires knowledge of the hardware elements of the system (human resources, financing, medicines, technology, organisational s...

In this study, we examined the demographic, disability, referral and service needs profile of children with autism spectrum disorder waiting for school placement in the Western Cape Province of South Africa and combined our findings with those of a previous study on children with autism spectrum disorder attending schools in the province over the s...

Background Tuberous sclerosis complex (TSC), a multi-system genetic disorder often associated with autism spectrum disorder (ASD), is caused by mutations of TSC1 or TSC2 , which lead to constitutive overactivation of mammalian target of rapamycin (mTOR). In several Tsc1+/- and Tsc2+/- animal models, cognitive and social behavior deficits were rever...

Background Tuberous Sclerosis Complex (TSC), a multi-system genetic disorder, is associated with a wide range of TSC-Associated Neuropsychiatric Disorders ( TAND). Individuals have apparently unique TAND profiles, challenging diagnosis, psycho-education, and intervention planning. We proposed that identification of natural TAND clusters could lead...

Objective Epilepsy is highly prevalent in patients with tuberous sclerosis complex (TSC). Everolimus showed higher efficacy than placebo for seizures in the primary analysis of the EXIST-3 study. Here, we present the long-term outcomes of everolimus at the end of the postextension phase (PEP; data cutoff date: October 25, 2017). Methods After comp...

Background Condom use remains the most effective behavioural method for the prevention of HIV and unplanned pregnancies. However, condom use remains inconsistent among young people. Exploring the condom use decision-making processes that adolescents engage in might provide information that would assist in the prevention of many challenges related t...

Background: Epilepsy is the most common neurological manifestation in individuals with tuberous sclerosis complex (TSC). However, real-world evidence on diagnosis and treatment patterns is limited. Here, we present data from TuberOus Sclerosis registry to increase disease Awareness (TOSCA) on changes in patterns of epilepsy diagnosis, treatments, a...

Background Tuberous Sclerosis Complex (TSC), a multi-system genetic disorder, is associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND). Individuals have apparently unique TAND profiles, challenging diagnosis, psycho-education, and intervention planning. We proposed that identification of natural TAND clusters could lead t...

Purpose of review: Most of the world's children and adolescents live in low and middle-income countries (LMICs) where mental health services are very limited. Here, we reviewed literature over the last 18 months describing the current landscape of child and adolescent mental health services and systems (CAMHSS) in LMICs, and present findings from...

Background Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. However, case studies point towards the existence of ra...

Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and recommendations for surveillance and management of disease manifestations. Advances in knowledge and app...

Lay abstract: COVID-19 caused many autism spectrum disorder caregiver-coaching studies to move to telehealth. Telehealth can increase the diversity of people who take part in research. This matters because most autism spectrum disorder studies have included people who have resources, are White, and live in North America and Europe. When study part...

Background Low- and middle-income countries like South Africa carry the greatest suicide burden, with local general population suicide attempt rates of 2.9–22.7%, in comparison to 0.7–9% in international literature. Non-suicidal self-injury (NSSI) commonly co-occurs with suicidal behaviours and estimates range from 5.5% internationally to 19.4% in...

Background Child and Adolescent mental health services (CAMHS) and systems need strengthening globally. This requires knowledge of the hardware elements of the system (human resources, financing, medicines, technology, organisational structure, service infrastructure, and information systems). This study sought to examine these elements of CAMHS in...

This non-interventional post-authorisation safety study (PASS) assessed the long-term safety of everolimus in patients with tuberous sclerosis complex (TSC) who participated in the TuberOus SClerosis registry to increase disease Awareness (TOSCA) clinical study and received everolimus for the licensed indications in the European Union. The rate of...

Background Condom use remains the most effective behavioural method for the prevention of HIV and unplanned pregnancies. However, condom use remains inconsistent among young people. Exploring the condom use decision-making processes that adolescent engage in might provide information that would assist in the prevention of many challenges related to...

The purpose of this study was to assess whether the characteristics of interactions between children with autism spectrum disorder (ASD) and their caregiver, living in a low resource South African setting, change over time in response to 12 x 1-hour Naturalistic Developmental Behavioural Intervention (NDBI) informed caregiver coaching sessions deli...

Background Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disorder caused by pathogenic mutations in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. However, case studies point towards the existe...

Lay abstract: There is very little information about autism spectrum disorder in South Africa and not much is known about children with autism spectrum disorder and their educational needs. In this study, we searched for all children with autism spectrum disorder attending schools in the Western Cape province of South Africa and compared our findi...

Background: Tuberous Sclerosis Complex (TSC), a multi-system genetic disorder often associated with Autism Spectrum Disorder (ASD), is caused by mutations of TSC1 or TSC2, which lead to constitutive overactivation of mammalian Target of Rapamycin (mTOR). In several Tsc1+/- and Tsc2+/- animal models, cognitive and social behavior deficits were rever...

Background: Tuberous Sclerosis Complex (TSC), a multi-system genetic disorder often associated with Autism Spectrum Disorder (ASD), is caused by mutations of TSC1 or TSC2, which lead to constitutive overactivation of mammalian Target of Rapamycin (mTOR). In several Tsc1+/- and Tsc2+/- animal models, cognitive and social behavior deficits were rever...

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...

Renal angiomyolipomas are one of the most common renal manifestations in patients with tuberous sclerosis complex (TSC), with potentially life-threatening complications and a poor prognosis. Despite the considerable progress in understanding TSC-associated renal angiomyolipomas, there are no large scale real-world data. The aim of our present study...

Lay abstract: No paper to date has summarized parents' views on the functional challenges and/or strengths of their children with autism spectrum disorder. In this review we set out to perform a scoping review aiming to (a) find and compare existing research from around the globe on parental perception of functioning and (b) summarize results from...

Research on tuberous sclerosis complex (TSC) to date has focused mainly on the physical manifestations of the disease. In contrast, the psychosocial impact of TSC has received far less attention. The aim of this study was therefore to examine the impact of TSC on health, quality of life (QoL), and psychosocial well-being of individuals with TSC and...

This is the preprint of our chapter in the book 'STARTING AT THE BEGINNING: LAYING THE FOUNDATION FOR LIFE'. In this chapter we outline a range of challenges and opportunities for implementing and evaluating early autism spectrum disorder (ASD) services in resource-limited contexts. The term ‘resource-limited’ was purposefully selected given that t...

Lay abstract: After a diagnosis of autism, it is an important first step to give families information about autism and skills to help them support their child. These interventions are called Parent Education and Training programmes. Little is known about these programmes or if they can make a difference to families, particularly in countries with...

Background: Knowledge is increasing about TSC-Associated Neuropsychiatric Disorders (TAND), but little is known about the potentially confounding effects of intellectual ability (IA) on the rates of TAND across age, sex, and genotype. We evaluated TAND in (a) children vs. adults, (b) males vs. females, and (c) TSC1 vs. TSC2 mutations, after stratif...

BACKGROUND: Estimates of children and adolescents with disabilities worldwide are needed to abstract inform global intervention under the disability-inclusive provisions of the Sustainable Development Goals. We sought to update the most widely reported estimate of 93 million children,15 years with disabilities from the Global Burden of Disease Stud...

Background: Depression and anxiety disorders occur at very high rates among medical students. For instance, international review and meta-analysis data estimated the overall pooled crude prevalence of depression or depressive symptoms at 27.2%. South African data are, however, very limited. Objectives: To determine the rates of depression and anxi...

BACKGROUND. Depressive and anxiety disorders occur at very high rates among medical students. For instance, an international review and meta-analysis estimated the overall pooled crude prevalence of depression or depressive symptoms at 27.2%. However, South African (SA) data are very limited.OBJECTIVES. To determine rates of depression and anxiety...

In this chapter, we discuss the challenges of providing early identification and intervention services for autism spectrum disorders (ASD) in resource-limited contexts. We also highlight opportunities and potential solutions that may address such challenges. To address the need of providing sustainable and scalable services for children with ASD, w...

Background: There is general consensus that child and adolescent mental health services in low- and middle-income countries have an urgent need to be strengthened. However, this require not only a universal understanding of services and service needs, but also in-depth local knowledge to inform relevant service strengthening. This study sought to e...

Introduction: The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to provide insights into the clinical characteristics of patients with Tuberous Sclerosis Complex (TSC). The aims of this study were to identify issues that arose during the design, execution, and publication phases of T...

Despite the need for parent education and training programmes in autism spectrum disorder (ASD), there is no generally-accepted evaluation framework to select programmes for different settings. Here we generated an evaluation framework using a multi-stakeholder, implementation science approach. Purposive sampling identified ASD experts, implementat...

Tuberous Sclerosis Complex (TSC) is a rare autosomal-dominant disorder caused by mutations in the TSC1 or TSC2 genes. Patients with TSC may suffer from a wide range of clinical manifestations; however, the burden of TSC and its impact on healthcare resources needed for its management remain unknown. Besides, the use of resources might vary across c...

Background: A lack of specialists, and insufficient infrastructure and funding to scale early interventions for autism spectrum disorder (ASD) characterize low-resource settings. Integration of early intervention methods that utilize non-specialists, and involve caregivers, into existing systems of care, offers the best hope to address such unmet n...

The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%)...

Background: A lack of specialists, and insufficient infrastructure and funding to scale early interventions for autism spectrum disorder (ASD) characterize low-resource settings. Integration of early intervention methods that utilize non-specialists, and involve caregivers, into existing systems of care, offers the best hope to address such unmet n...

Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). Methods: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented cl...

This poster describes and illustrates the importance of involving stakeholders, and expecting and encouraging adaptations, when implementing and evaluating a caregiver skills training programme for families of children with developmental disabilities in South Africa.

Developing and implementing evidence-based interventions for autism in low- resource settings is a challenging endeavour. A group of researchers at the Centre for Autism Research in Africa (CARA) are focusing on various caregiver education and caregiver coaching interventions. Instead of researchers working in isolation, a decision was made to esta...

Stakeholder perspectives on ASD services in South Africa

Empowering families of children with autism spectrum disorder through education and training is best practice. A wide range of Parent Education and Training programmes are delivered around the globe, but there is limited knowledge about the characteristics of these programmes, or about the research methods and outcomes used to evaluate them, partic...

Functional outcomes in autism spectrum disorder can be highly variable given the heterogeneous nature of autism spectrum disorder and its interaction with environmental factors. We set out to compare parent/caregiver perceptions of functioning in two divergent countries that participated in the International Classification of Functioning Disability...

Coaching caregivers to deliver naturalistic developmental behavioral intervention (NDBI) strategies to their young child with autism spectrum disorder (ASD) is a powerful mechanism to address the provider capacity barrier in sub-Saharan Africa (SSA). Caregiver use of NDBI strategies can promote child joint attention, affective engagement, and langu...

OBJECTIVE To examine the feasibility of a range of ASD-related technologies for low-and middle-income settings. METHODS Six classes of ASD-related technologies were selected: 1) Personal Computers (PC) 2) Sensing Technologies (ST), 3) Robotics (RT); 4) Virtual Reality (VR), 5) Shared Active Surface (SAS), and 6) Mobile Technologies (MT) were evalua...

Background: Coaching caregivers to deliver Naturalistic Developmental Behavioral Intervention (NDBI) strategies to their young child with autism spectrum disorder (ASD) could help address the provider capacity barrier in sub-Saharan Africa. However, the behavioral and developmental research that underpins NDBIs is overwhelmingly drawn from high res...