Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration.

Abstract

The Tuberous Sclerosis Complex Autism Center of Excellence Network (TACERN) is a 6-site collaborative conducting longitudinal research on infants with tuberous sclerosis complex (TSC), focused on identifying early biomarkers for autism spectrum disorder (ASD). A multidisciplinary research team that includes the specialties of psychology, neurology, pediatrics, medical genetics, and speech−language pathology, its members work together to conduct studies on neurological status, brain structure and function, neurodevelopmental phenotype, and behavioral challenges in this population. This article provides insights into the roles of the multidisciplinary multisite team and lessons learned from the collaboration, in terms of research as well as training of future researchers and clinicians. In addition, the authors detail the major findings to date, including those related to the identification and measurement of early symptoms of ASD, relationship between seizures and early development, and early biomarkers for epilepsy and developmental delay in infants and young children with TSC.

Resting‐State fMRI Networks in Children with Tuberous Sclerosis Complex

“…The Autism Diagnostic Observation Schedule—Second Edition (ADOS‐2) was conducted at approximately 24 and 36 months of age. ADOS‐2 data from 36 months of age was used in the analyses of this study because it has been already shown that ADOS‐2 scores from 36 month of age had greater diagnostic certainty than the scores collected at 24 months of age . Clinical data regarding past and current history of focal and generalized seizures at the time of MRI was obtained from case record forms since it was important to know the seizure history for the interpretation of the MRI results.…”

“…This project is part of a multisite longitudinal study, conducted by the TSC Autism Center of Excellence Research Network (TACERN), which aims to identify early biomarkers of ASD in infants with TSC . The aim of the current project was to identify the auditory, motor, and medial visual rs‐fMRI networks in children with TSC, to examine rs‐fMRI network differences between TSC children who later develop ASD and those who do not, to examine the effect of seizures on the rs‐fMRI network, and to correlate rs‐fMRI network analyses with neurodevelopmental metrics.…”

Autism and Epilepsy in Patients With Tuberous Sclerosis Complex

“…In terms of further defining the prognostic features of epilepsy and autism within TSC, large prospective studies, such as TACERN or those conducted by the EPISTOP group ( 34 , 51 , 64 ), are helping to identify early biomarkers for treatment.…”

A critical realist synthesis of cross-disciplinary health policy and systems research: defining characteristic features, developing an evaluation framework and identifying challenges

“…Difficulty in developing a shared conceptual framework [29,30,56,67,68,70,80,81] Establishing a CDR learning platform [30,53,67,70,76,82,83] Developing a well thought-out rationale for cross-disciplinary research [54,55,57,60,67] Mentoring for early career researchers [27,53,54,70,76] Disagreement about research methods [56,57,61,67,68,80,82] Piloting multiple methods [53,57,68,76,84] Seeking inputs/counsel from (experienced) external advisors [61,81,85,86] Challenges in maintaining disciplinary balance as the study progresses [56,57,66,67,70,81,87] Sustaining interaction, ...…”

“…Frequent communication breakdowns and disenchantment among team members [19,23,52,66,73,81] Keeping to a shared cross-disciplinary communication plan from the onset [23,57,60,73,92] Ensuring frequent interaction and meetings among team members [23,60,73,81,85] Using interactive media to develop team communication platforms [23,60,73,79] Challenge of accommodating discipline-specific languages of participating disciplines and stakeholders [19,56,59,67,93] Focusing more on development of a shared language than capturing each discipline's specific tone [19,26,67,85,87] Challenge of finding media suitable to participating disciplines and stakeholders [19,56,59,67] Using various communication mediums and strategies [19,26,81] Conflicts over authorship and publication of research output [19,58,59,67,68] Formulating authorship guidelines from the onset of the project [19,…”