Guest Editorial: Meeting the complex needs of individuals with rare genetic disorders in South Africa – lessons from tuberous sclerosis complex

No Abstrac

The Strengths and Difficulties Questionnaire (SDQ) in Africa: a scoping review of its application and validation

Child and adolescent mental health in Africa remains largely neglected. Quick and cost-effective ways for early detection may aid early intervention. The Strengths and Difficulties Questionnaire (SDQ) is globally used to screen for mental health problems, but little is known about its use in Africa. We set out to perform a scoping review to examine existing studies that have used the SDQ in Africa

Pilot Validation of the Tuberous Sclerosis-Associated Neuropsychiatric Disorders (TAND) Checklist

AbstractBackgroundTuberous sclerosis complex is a multisystem disorder that includes a range of tuberous sclerosis–associated neuropsychiatric disorders (TAND). The lifetime prevalence rates of TAND are very high; yet surveys suggest that the majority of individuals with tuberous sclerosis never receive appropriate assessment or treatment for TAND. To aid systematic enquiry, a TAND Checklist was developed. Here, we performed pilot validation of the TAND Checklist.MethodMixed methods were used across two stages. In stage 1, we gathered feedback on the Checklist from tuberous sclerosis “expert professionals” and “expert parents and caregivers.” The aim was to examine face and content validity. Stage 2 involved the administration of the refined TAND Checklist to 20 parents of individuals with tuberous sclerosis concurrently with four widely used validated rating scales, to examine external validity and obtain qualitative feedback on face-to-face administration of the TAND Checklist.ResultsTwenty professionals and 62 parents and caregivers from 28 countries participated in the pilot. The TAND Checklist demonstrated good face and content validity with high overall mean and median scores. Qualitative analysis highlighted concerns about the likely use of the TAND Checklist, suggesting that family members and individuals with tuberous sclerosis should drive usage. Stage 2 results showed moderate-to-very good external validity across TAND domain and key subdomains. Internal consistency of domains and subdomains was acceptable to very good. Ninety-three percent of all participants (93%) reported four or more lifetime TAND behavioral difficulties.ConclusionThe pilot validation suggested that the TAND Checklist could provide a useful screening tool in clinical settings

A situational analysis of child and adolescent mental health services and systems in the Western Cape Province of South Africa

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 structure, service infrastructure, and information systems). This study sought to examine these elements of child and adolescent mental health (CAMH) services and systems in the Western Cape Province of South Africa. Methods The World Health Organization Assessment Instrument of Mental Health Systems (WHO-AIMS) version 2.2 of 2005 was adapted to identify key variables of interest in CAMH. Data were collected for the calendar year 2016 and focused on the public health sector. We outlined findings based on best available data across the six domains of the WHO-AIMS. Results In domain 1, we found no provincial CAMH policy or implementation plans to support the national CAMH policy and were unable to identify a CAMH-specific budget. In domain 2, there was no dedicated provincial leadership structure for CAMH, and no dedicated or ‘child- and adolescent-friendly’ mental health services at primary or secondary care levels. At tertiary level, there were only three specialist CAMH teams. The majority of CAMH resources were based in the City of Cape Town, with limited resources in the rural districts. Essential medicines were available in all facilities, and the majority of children and adolescents had access to free services. In domain 3, data were limited about the extent of training offered to primary healthcare staff, and little or no psychosocial interventions were available in primary care. Domain 4 identified a small and variable CAMH workforce across all levels of care. In domain 5, few public health campaigns focused on CAMH, and little evidence of formal intersectoral collaboration on CAMH was identified. Domain 6 identified significant limitations in health information systems for CAMH, including lack of child- and adolescent-specific and disaggregated data to establish baselines for policy development, monitoring, evaluation and CAMH research. Conclusions This study identified significant structural weaknesses in CAMH and presents a clear call for action to strengthen services and systems in the province and in South Africa. it would be important to expand research also to include provider and user perspectives for service strengthening

Child and adolescent mental health services in the Western Cape Province of South Africa: the perspectives of service providers

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. This study set out to explore the perspectives and lived experiences of service providers, including their recommendations to strengthen CAMHS in South Africa. Methods Using focus group discussions (FGDs) and semi-structured individual interviews (SSIIs), qualitative data were collected from 46 purposefully selected multidisciplinary health service providers across the Western Cape, one of the nine provinces of South Africa. Audio-recorded data were entered into NVivo 11 (QSR), and thematic analysis was performed by two independent raters. Results Results highlighted a significant lack of CAMH resources, poor intersectoral collaboration, limited access to training, absence of consistency and uniformity in service delivery, weak support for staff, and high rates of negative attitudes of staff. External factors contributing to poor CAMHS identified by service providers included poor socioeconomic circumstances, high rates of HIV/AIDS, substance use and stigma. The eight recommendations to strengthen CAMHS included a need to (1) increase CAMH staffing, (2) provide dedicated CAMHS at secondary care and child-friendly infrastructure at primary care, (3) review current service focus on number of patients seen versus quality of care provided to children, (4) formalise intersectoral collaborations, (5) increase learning opportunities for trainees, (6) employ a lead professional for CAMHS in the province, (7) increase support for staff, and (8) acknowledge staff initiatives. Conclusions Findings underlined the need for quality improvement, standardisation and scale-up of mental health services for children and adolescents in South Africa. Whilst we used the Western Cape as a ‘case study’, we propose that our findings may also be relevant to other LMICs. We recommend that the perspectives of service users, including children and adolescents, be sought to inform service transformation

“A turn in the road, but still a rough journey” - Parent and child perspectives of outcomes after pre-adolescent inpatient psychiatric admission

Background Research regarding the outcomes of child and adolescent psychiatric inpatients appears insufficient and neglected. Where data are available, the majority of studies focus on adolescents. This study aimed (a) to describe child and parental perspectives of short-, medium- and long-term outcomes of children who have had a pre-adolescent inpatient psychiatric admission, and (b) to analyse these dyadic experiential data to identify outcome variables of importance to families and service users that could be used in future outcomes-based research. Methods The study employed a qualitative methodology, using semi-structured in-depth interviews of ten parent-child dyads to (a) collect the perspectives of children who have had an inpatient psychiatric admission at a pre-adolescent unit and their parents, and (b) to analyse the experiences of inpatient admission and perceived outcomes after discharge using thematic analysis. Results Overall, inpatient psychiatric admission was viewed as a positive and empowering experience by parents and children. Clear short-term benefits were reported as a result of new diagnoses, medications and new skills gained through the admission process. More than half of parent-child dyads reported long-term benefits, but many families commented on ongoing challenges. Thematic analysis identified diagnostic certainty, acquisition of cognitive and behavioural skills, appropriate educational environment, peer relationships, sustained follow-up and medication management, and parent-child relationships, as important contributors to outcomes. Importantly, the presence or lack of these elements influenced outcomes. Conclusions The study explored parent-child dyadic perspectives about their experiences of inpatient mental health admissions for pre-adolescents and perceived outcomes after admission. The majority of families found inpatient admission positive and helpful, and thematic analysis identified a number of functional variables that may predict outcome. However, positive outcomes were associated with ongoing difficulties over time, as indicated by the theme “a turn in the road, but still a rough journey”

Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins.

BACKGROUND: Tuberous sclerosis complex is a multisystem genetic disease, caused by mutation in the TSC1 or TSC2 genes, associated with many features, including intellectual disability (ID). We examined psychometric profiles of patients with TSC1 or TSC2 mutations and tested whether different mutation types were associated with different degrees of intellectual ability. METHODS: One hundred subjects with known TSC1/TSC2 mutations were assessed using a range of IQ or developmental quotient (DQ) measures. Effects of mutations on TSC1/TSC2 proteins were inferred from sequence data and published biochemical studies. RESULTS: Most individuals with TSC1 mutations fell on a normal distribution identical to the general population, with ∼10% showing profound ID. Of individuals with TSC2 mutations, 34% showed profound ID, and the remainder a pattern of IQ/DQ more variable and shifted to the left than in TSC1 or the general population. Truncating TSC1 mutations were all predicted to be subject to nonsense-mediated mRNA decay. Mutations predicted to result in unstable protein were associated with less severe effects on IQ/DQ. There was a statistically significant negative correlation between length of predicted aberrant C-terminal tails arising from frameshift mutations in TSC1 and IQ/DQ; for TSC2 a positive but not statistically significant correlation was observed. CONCLUSION: We propose a model where (i) IQ/DQ correlates inversely with predicted levels and/or deleterious biochemical effects of mutant TSC1 or TSC2 protein, and (ii) longer aberrant C-terminal tails arising from frameshift mutations are more detrimental for TSC1 and less for TSC2. Predictions of the model require replication and biochemical testing.We thank the Tuberous Sclerosis Association, the Wales Gene Park, the National Research Foundation of South Africa and the Struengmann Fund for financial support. We thank Prof Chris Smith for helpful comments on the manuscript.This is the author accepted manuscript. The final version is available from the British Medical Journal via http://dx.doi.org/10.1136/jmedgenet-2015-10315

Non-specialist delivery of the WHO Caregiver Skills Training Programme for children with developmental disabilities:stakeholder perspectives about acceptability and feasibility in rural Ethiopia

Autism and other developmental disabilities (DD) are common in low- and middle-income countries. The World Health Organization (WHO) developed the Caregiver Skills Training (CST) programme to address the needs of families with children with DD globally. This study explored the acceptability and feasibility of the CST facilitated by non-specialists in rural Ethiopia, where contextual factors such as poverty, stigma and low literacy may affect CST delivery. In-depth interviews were conducted with caregivers (n=19) and four focus groups with non-specialist facilitators (n=8) in two rural pilot tests of the CST programme. Results suggested that participants experienced the CST programme as acceptable and relevant for their context but suggested some modifications to improve the programme. Caregivers’ accounts showed that facilitation by non-specialists was acceptable; facilitators emphasised the importance of supervision throughout the programme. Participants indicated that the home visit and group training modalities were acceptable and feasible. Facilitators indicated that some CST topics were difficult to explain to caregivers; the concept of formalised play between caregiver and child was particularly foreign to caregivers. Lack of available toys made it difficult to practise some of the CST exercises. These findings may have relevance to non-specialist delivery of the CST and other parent-mediated interventions in low-resource contexts