Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2.

Abstract

Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2-related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected. Here we characterize the phenotype of eight individuals (4 males) with 7q31 deletions (median age 4 years, 3 months, range 1-32 years). Deletion size ranged from 6.8 to 15.2 Mb. All had protracted speech and language milestones, and those with larger deletions had little to no speech. All verbal individuals had childhood apraxia of speech (5/5, 100%). Participants used augmentative and alternative communication (AAC) including key word sign (5/8, 63%), and low-tech (6/8, 75%) and high-tech (4/8, 50%) systems. Oral and written language impairment was universal. The larger the deletion size, the poorer an individual's language skills (p = 0.03, p < 0.05). Daily living, socialization, and motor skills were also impaired. Cognition ranged from average to severely impaired. Childhood feeding impairment (50%), sleep disturbance (38%), structural brain abnormalities (38%), and autism (25%) were noted. All individuals received one or more allied health therapies. Speech and language impairments emphasize the need for early, tailored speech therapy, including literacy and AAC interventions, for individuals with 7q31 deletions.