FOXP2 gene deletion and infant feeding difficulties: a case report

Abstract

Forkhead box protein P2 (FOXP2) is a well-studied gene known to play an essential role in normal speech development. Deletions in the gene have been shown to result in developmental speech disorders and regulatory disruption of downstream gene targets associated with common forms of language impairments. Despite similarities in motor planning and execution between speech development and oral feeding competence, there have been no reports to date linking deletions within the FOXP2 gene to oral feeding impairments in the newborn. The patient was a nondysmorphic, appropriately and symmetrically grown male infant born at 35-wk gestational age. He had a prolonged neonatal intensive care unit stay because of persistent oral feeding incoordination requiring gastrostomy tube placement. Cardiac and neurological imagings were within normal limits. A microarray analysis found an ∼9-kb loss within chromosome band 7q3.1 that contains exon 2 of FOXP2, demonstrating a single copy of this region instead of the normal two copies per diploid gene. This case study expands our current understanding of the role FOXP2 exerts on motor planning and coordination necessary for both oral feeding success and speech–language development. This case report has important consequences for future diagnosis and treatment for infants with FOXP2 deletions, mutations, and varying levels of gene expression.

Manger, respirer, crier, parler, chanter : l’épopée zoologique du langage

“…Dès l'enfance, cette mutation est corrélée à l'incapacité à contrôler les mouvements moteurs faciaux et buccaux lors de l'émission du langage expressif et réceptif. Elle est associée à l'incoordination de l'ingestion alimentaire orale qui se traduit par des fausses routes respiratoires [31]. Les études par imagerie fonctionnelle cérébrale des patients de la famille KE, ainsi que d'autres sujets atteints de façon similaire, ont révélé une réduction des structures tissulaires neurales impliquées dans la genèse du langage, comme l'aire de Broca, le noyau caudé, le striatum et le cervelet [32].…”

“…Le centre moteur frontal pneumo-laryngopharyngo-glosso-buccal du langage de Broca et le gène FOXP2 [8,[28][29][30][31][32] premiers tétrapodes dentés encore muni de branchies, le chaînon manquant avec les poissons dont les descendants sont aujourd'hui les dipneustes 1 australiens et les coelacanthes 2 [16,17]. À partir du Dévonien, les tétrapodes et vertébrés terrestres se sont diversifiés phylétiquement 3 (en amphibiens, reptiles, oiseaux, et en mammifères) [2, [10][11][12][13][14][15].…”

Salivary Diagnostics in Pediatrics: Applicability, Translatability, and Limitations

“…In initial studies, the combined salivary expression profile of these biomarkers was shown to be up to 78% accurate in predicting mature oral feeding skills in the newborn. In addition, our laboratory has been the first to link expression levels of a well-described speech–language gene, FOXP2 , to oral feeding success in the newborn ( 54 , 55 ). These experiments have laid the foundation for future studies to non-invasively explore developmental biology in our youngest patients and offer caregivers an enormous opportunity to utilize salivary transcriptomics to further explore, diagnose, and potentially prevent other areas of neonatal pathology where disrupted development results in unique and often life-threatening diseases including bronchopulmonary dysplasia, necrotizing enterocolitis (NEC), or retinopathy of prematurity.…”