Diagnostic Journey for Tuberous Sclerosis Complex-Interviews From a Clinical Trial.
TSC families get fragmented care and struggle to find experts—give them a ready referral sheet.
01Research in Context
What this study did
Moser et al. (2025) talked to caregivers of toddlers with tuberous sclerosis complex (TSC).
They asked how families found out about TSC and what help they got after diagnosis.
All interviews came from families in a clinical drug trial for very young children.
What they found
Parents said information came in pieces, not as a clear plan.
Few doctors knew TSC well, so families had to hunt for clinics on their own.
Most visits focused only on seizures, leaving little time for other needs.
How this fits with other research
Pitchford et al. (2019) heard the same worries from TSC families six years earlier. Both studies call for one-stop TSC clinics.
Hopkins et al. (2023) saw the same patchwork care in Down syndrome, showing the problem crosses diagnoses.
Ten Hoopen et al. (2025) list fifteen barriers that block respite care for any disability. Carly’s families hit the same wall when they looked for TSC-knowledgeable therapists.
Why it matters
If you serve a child with TSC, expect parents to feel lost. Build a short list of local TSC clinics, epilepsy centers, and parent Facebook groups before the next visit. Hand it to them in one sheet. This small step can replace weeks of lonely searching and keeps care from stalling.
Want CEUs on This Topic?
The ABA Clubhouse has 60+ free CEUs — live every Wednesday. Ethics, supervision & clinical topics.
Join Free →Print a one-page list of nearby TSC clinics, epilepsy centers, and parent support groups to hand to families.
02At a glance
03Original abstract
Tuberous sclerosis complex (TSC) is a genetic condition characterized by both medical and neuropsychiatric diagnoses that emerge across the lifespan. As part of a clinical trial, caregivers of children with TSC were interviewed about their experiences navigating medical, school, and social services. Semistructured interviews (N = 20) with caregivers of children with TSC (27-60 months) were conducted upon exit from the study. The interviews covered topics related to experiences following diagnosis, interactions with providers, sources of information, and access to services and treatment. The main themes from the caregiver interviews included: (1) sources of information about TSC and treatment; (2) access to high-quality and expert medical care; (3) perception and diagnosis of TAND; (4) impact of epilepsy on daily life, intervention, and schooling; and (5) access to therapeutic services, compatible providers, and evaluations. Additionally, parents provided recommendations for other caregivers navigating their child's early treatment following diagnosis. These results reflect the importance of current research priorities for TSC stakeholders, including implementation of existing clinical guidelines, improved access to TSC expertise, and coordinated and integrated health care.
American journal on intellectual and developmental disabilities, 2025 · doi:10.1352/1944-7558-130-1-63