SETBP1 Haploinsufficiency Disorder
Speech and language impairments in SETBP1 Haploinsufficiency Disorder (SETBP1-HD) are closely linked to core functional abilities, learning potential, and social engagement. Redenlab’s specialised tools provide objective, sensitive endpoints to monitor developmental change and therapeutic response in rare disease trials.
Speech and language in SETBP1-HD
SETBP1 Haploinsufficiency Disorder (SETBP1-HD) is a rare genetic condition characterised by global developmental delay, significant expressive language impairment, and motor planning difficulties, with many individuals exhibiting lifelong speech challenges. These communication difficulties can affect educational access, social participation, and family interaction, with limited tools available to objectively track speech outcomes over time. Standard assessments often fail to capture the nuanced progress made by minimally verbal individuals or those with complex communication needs. Redenlab delivers speech analysis tools tailored to low-verbal and apraxic profiles, enabling reliable, remote assessment of expressive language and vocal development in clinical and research settings.
Communication markers for SETBP1-HD Trials
Built for expressive language delay and apraxia
Tailored protocols address motor speech planning and phonemic development challenges common in SETBP1-HD.
Sensitive to small gains in communication
Captures incremental changes in vocal output, articulation, and sound complexity, especially valuable in low-verbal or AAC-using individuals.
Supports rare disease trial design
Optimised for small, heterogeneous cohorts with broad developmental variability and limited normative reference data.
Compatible with home-based data collection
Remote, caregiver-facilitated assessments enable frequent tracking without requiring in-person visits.
Objective outcome measures
Provides quantifiable, reproducible metrics aligned with functional communication goals in natural history studies and interventional trials.
Redenlab’s experience in SETBP1 Haploinsufficiency Disorder
Redenlab has played a leading role in advancing the understanding of communication phenotypes in SETBP1 Haploinsufficiency Disorder (SETBP1-HD), a rare genetic condition marked by intellectual disability, expressive language impairment, and high rates of childhood apraxia of speech. In collaboration with international genetic and speech research groups, Redenlab contributed to the first large-scale speech phenotype characterisation of individuals with SETBP1-HD, as reported in the 2021 European Journal of Human Genetics study (Morgan et al., 2021).
Using structured speech sampling, phonetic transcription, and acoustic analysis, Redenlab helped identify persistent deficits in articulation, prosody, and speech motor planning, features that distinguish SETBP1-HD from other neurodevelopmental conditions. These analyses also informed clinical guidance provided through the Genetics of Speech knowledge base, which highlights the prevalence of severe expressive communication challenges, and the importance of augmentative and alternative communication (AAC) supports in this population (Genetics of Speech Consortium, 2022).
Through this work, Redenlab demonstrated the feasibility and clinical value of applying digital speech analytics in ultra-rare, low-verbal cohorts. Our assessments have enabled objective, repeatable measurement of speech function and developmental progress in individuals who are often excluded from traditional outcome measures. These contributions are also reflected in the GeneReviews summary of SETBP1-HD (NIH, 2021), which references speech and language as central diagnostic and prognostic indicators.
