Floating-Harbor syndrome

Expressive language delay and speech intelligibility are core features of Floating-Harbor syndrome and directly impact social engagement and functional independence. Redenlab offers scalable tools to objectively measure these domains, providing sensitive endpoints for tracking developmental progress and intervention outcomes.

Communication endpoints in Floating-Harbor syndrome

Floating-Harbor syndrome (FHS) is a rare genetic condition caused by pathogenic variants in the SRCAP gene, characterised by expressive language delays, growth restriction, and variable cognitive impairment. Most individuals with FHS show significantly reduced speech intelligibility, delayed sentence development, and persistent articulation errors well into adolescence. These communication difficulties can limit academic participation, reduce independence, and affect emotional well-being. Redenlab provides targeted, developmentally appropriate speech assessments that sensitively track expressive language and intelligibility, enabling accurate monitoring of change and supporting outcome measurement in therapeutic and natural history studies.

Precision speech assessment for FHS

Adapted for persistent articulation deficits

Captures common speech features in FHS such as phonological delay, disordered prosody, and reduced intelligibility.

Developmentally aligned tracking

Supports monitoring of expressive language growth from early childhood through adolescence.

Rare disease trial readiness

Experience in ultra-rare neurodevelopmental conditions with phenotypic variability and small sample sizes.

Home-based, low-burden tools

Enables remote testing with caregiver involvement, suitable for longitudinal and decentralised study designs.

Objective, quantifiable endpoints

Offers reproducible speech metrics that reflect meaningful, real-world communication outcomes.

Redenlab’s experience in Floating-Harbor syndrome

Redenlab has contributed foundational work in characterising the communication phenotype of Floating-Harbor syndrome (FHS), a rare genetic disorder associated with SRCAP variants. In one of the earliest clinical descriptions of the syndrome’s neurodevelopmental and linguistic profile (White et al., 2010), Redenlab investigators were involved in identifying expressive language delay and reduced intelligibility as consistent and impactful features of the condition.

Individuals with FHS often present with significant delays in sentence structure development, persistent phonological errors, and disordered prosody that persist into adolescence. These features were highlighted through structured clinical assessments and phonetic analysis, forming the basis for subsequent genotype–phenotype correlation studies. Redenlab’s involvement laid the groundwork for scalable and sensitive tools to monitor speech in ultra-rare syndromes where traditional assessments often fail to capture meaningful change.

Further recognition of these speech features is reflected in the Genetics of Speech program, which lists FHS among the studied conditions with well-documented speech and language disorder presentations (Genetics of Speech Consortium, 2024). Redenlab’s tools and methodologies are informed by this foundational work and continue to be applied in rare disease contexts, supporting both natural history research and the development of targeted interventions for communication outcomes.