Journal article

Severe speech impairment is a distinguishing feature of FOXP1-related disorder

Ruth O Braden, David J Amor, Simon E Fisher, Cristina Mei, Candace T Myers, Heather Mefford, Deepak Gill, Siddharth Srivastava, Lindsay C Swanson, Himanshu Goel, Ingrid E Scheffer, Angela T Morgan



AIM: To delineate the speech and language phenotype of a cohort of individuals with FOXP1-related disorder. METHOD: We administered a standardized test battery to examine speech and oral motor function, receptive and expressive language, non-verbal cognition, and adaptive behaviour. Clinical history and cognitive assessments were analysed together with speech and language findings. RESULTS: Twenty-nine patients (17 females, 12 males; mean age 9y 6mo; median age 8y [range 2y 7mo-33y]; SD 6y 5mo) with pathogenic FOXP1 variants (14 truncating, three missense, three splice site, one in-frame deletion, eight cytogenic deletions; 28 out of 29 were de novo variants) were studied. All had atypical s..

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Awarded by National Health and Medical Research Council (NHMRC) Centre of Research Excellence grant in Speech and Language Neurobiology

Awarded by NHMRC

Funding Acknowledgements

We thank the patients and families who gave their time to take part in this research. This study was supported by a National Health and Medical Research Council (NHMRC) Centre of Research Excellence grant in Speech and Language Neurobiology no. 1116976), which was awarded to DJA, SEF, IES, and ATM. The study is also supported by an NHMRC Practitioner Fellowships awarded to ATM (no. 1105008) and IES (no. 1104831), a project grant (no. 1127144) awarded to ATM, and a program grant (no. 1091593) awarded to IES. RB is supported by a Postgraduate Health Research Scholarship awarded by the Murdoch Children's Research Institute. SEF is funded by the Max Planck Society. This work was supported by the Victorian Government's Operational Infrastructure Support Program and Australian Government NHMRC Independent Research Institute Infrastructure Support Scheme.ROB, DJA, SEF, CM, CTM, HM, HG, and ATM report no disclosures. DG has received speaker honorarium from BioMarin and served as an investigator for Zogenix. IES may accrue future revenue on pending patent no. WO2009/086591 and has a patent for SCN1A testing held by Bionomics and licensed to various diagnostic companies (no. WO/2006/133508); she has a patent (no. WO/2013/059884) with royalties paid. She has served on scientific advisory boards for UCB, Eisai, GlaxoSmithKline, BioMarin, Nutricia, RogCon, Xenon Pharmaceuticals, Chiesi, and Encoded Therapeutics. She has received speaker honoraria from GlaxoSmithKline, UCB, BioMarin, Biocodex, and Eisai. She has received funding for travel from UCB, Biocodex, GlaxoSmithKline, BioMarin, and Eisai. She has served as an investigator for Zogenix, Zynerba, Ultragenyx, GW Pharmaceuticals, UCB, Eisai, Epygenyx, Anavex Life Sciences, Ovid Therapeutics, Encoded Therapeutics, and Marinus. She has consulted for Zynerba, Atheneum Partners, Ovid Therapeutics, Epilepsy Consortium, Care Beyond Diagnosis, and UCB. She receives/has received research support from the NHMRC of Australia, Health Research Council of New Zealand, CURE, Australian Epilepsy Research Fund, Medical Research Future Fund, and National Institutes of Health/National Institute of Neurological Disorders and Stroke.