In this issue of Research Round Up we have included two very different research reports which we hope will be of interest to our TSC Community.

This is a report on a small pilot study of an evidence-based, parent-mediated behavioral intervention focused on improving early social communication and play skills in five children with TSC, aged 1–3 years. 

Background

This team’s previous study published in 2014, found that infants with TSC demonstrated early delays in nonverbal cognition and social communication skills, and these delays were most prominent in those who develop autism spectrum disorder (ASD). They reported that by just nine months of age, social communication delays differentiated those infants who were later diagnosed with ASD from those without ASD.  The 2014 study also found that TSC infants with ASD demonstrated a significant decline in their nonverbal cognitive abilities from 12 to 36 months of age. 

It is known that early intervention improves outcomes in children with ASD.  There is also a growing body of work demonstrating that interventions targeting nonverbal communication can improve language and social interaction in toddlers at high risk for ASD.   This study was developed to test models of early intervention that may improve developmental trajectories and outcomes in children with TSC.

What was involved in the study?

This study reports on an implementation known as JASPER  - Joint Attention, Symbolic Play, Engagement, and Regulation. JASPER specifically targets the foundations of social communication using strategies to increase the rate and complexity of social communication.  It includes parents as implementers of the intervention.

Five children with TSC and their parents engaged in a 12-week intervention focused on improving social communication and play skills.  The intervention included daily sessions for two weeks, followed by weekly sessions for ten weeks. Parents were first taught to recognize the child’s current level of play and use of social communication gestures. They were then taught strategies for maintaining engagement with their child and facilitating gestures, spoken language, and play behaviors.

What were the outcomes?

The children in the study showed maintenance and sometimes gains in developmental abilities, relative to peers. Parents generally found the intervention to be helpful and were able to administer it. Whilst this is a very small trial, preliminary results demonstrate initial feasibility of an early play-based, parent-mediated intervention and support the need for a large-scale, randomized clinical trial in TSC.

McDonald, N. M., Hyde, C., Choi, A. B., Gulsrud, A. C., Kasari, C., Nelson, C. A., 3rd, & Jeste, S. S. (2020). Improving Developmental Abilities in Infants With Tuberous Sclerosis Complex: A Pilot Behavioral Intervention Study. Infants and young children, 33(2), 108–118.

Full paper available (at extra cost) at: https://doi.org/10.1097/iyc.0000000000000160

This study reports on 90 adults with TSC who attended Centre Hospitalier Universitaire de Bordeaux, between January 2000 and September 2018. Since 2015 this institution has been providing a multidisciplinary team approach to the care of adults with TSC.  It does this through the provision of a TSC day where annual evaluation with a nephrologist, neurologist, dentist, ophthalmologist and psychologist occurs. 

Centre Hopitalier Universitaire de Bordeaux

At the Centre, surveillance is individualised according to need. It includes clinical and dermatological examinations, and imaging. Lung function is assessed based on pulmonary function tests and a 6-minute walk test. Cardiac function is tested using ECG, and kidney function is checked using blood tests and urinalysis. Any issues detected lead to more investigations.  Along with this physical testing, quality of life, anxiety, depression, intellectual impairment and family burden are also measured.

Findings of the study

In the 90 adults with TSC who attended the Centre during the time period:

·        100% had dental lesions with pits

·        97% had cutaneous (skin) lesions

·        89% had neurological manifestations - 81% had tubers and 67% had epilepsy

·        83% had renal manifestations (AML, cyst or chronic kidney disease)

·        68% had sclerotic bone lesions

·        64% had TSC-associated neuropsychiatric disorders (TAND)

·        59% had lymphangioleiomyomatosis (LAM)

·        39% experienced depression

·        22% experienced moderate to high anxiety

The age of people attending the clinic ranged from 27-47.

Physical quality of life for these TSC adults was most affected by fatigue, and mental quality of life was most affected by the presence of TAND. Of interest, although the number of patients with a history of rhabdomyomas was low (13%), they detected a relatively high frequency of heart-related conditions, including conduction disturbance (15%) and arrhythmia (8%).

Summary

This multidisciplinary team approach to the care of adults with TSC represents a model that allows for optimal evaluation and management of TSC in a manner that is convenient for patients with most appointments occurring on one day.   This study also, once again highlights the importance of surveillance and particularly TAND.  Patient satisfaction with the clinic, which was measured through a survey, was high.

Pfirmann P, Aupy J, Jambon E, et al Description of a multidisciplinary model of care in a French cohort of adult patients with tuberous sclerosis complex, Journal of Medical Genetics, Published Online First: 14 May 2020. doi: 10.1136/jmedgenet-2019-106607

Full paper available (at extra cost) at: https://jmg.bmj.com/content/early/2020/05/14/jmedgenet-2019-106607

DISCLAIMER

This information is intended to provide some insights into recent TSC-related research.  It is not intended to, and it should not, constitute medical or other advice.  Readers are warned not to take any action without first seeking medical advice.

FURTHER INFORMATION

Citations (and links where possible) to the full research articles/papers are included for those who would like to know more.  TSA's nurse service is also available and offers a free, confidential information and support service which provides TSC information and links to practical support. You can contact Kim, the TSA nurse, by phoning 1300 733 435, emailing [email protected] or visiting https://tsa.org.au/tsa-nurse/

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