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

Braden, R. O., Amor, D. J., Fisher, S. E., Mei, C., Myers, C. T., Mefford, H., et al. (2021). Severe speech impairment is a distinguishing feature of FOXP1-related disorder. Developmental Medicine & Child Neurology, 63(12), 1417-1426. doi:10.1111/dmcn.14955.

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 Creators:
Braden, Ruth O.1, 2, Author
Amor, David J.1, 2, 3, 4, Author
Fisher, Simon E.5, 6, Author           
Mei, Cristina1, 2, Author
Myers, Candace T.7, Author
Mefford, Heather7, Author
Gill, Deepak8, Author
Srivastava, Siddharth9, Author
Swanson, Lindsay C.9, Author
Goel, Himanshu10, Author
Scheffer, Ingrid E.1, 2, 3, 11, 12, Author
Morgan, Angela T.1, 2, 3, 4, Author
Affiliations:
1Murdoch Children’s Research Institute, Parkville, Parkville, Australia, ou_persistent22              
2University of Melbourne, Parkville, Australia, ou_persistent22              
3The Royal Children’s Hospital, Parkville, Australia, ou_persistent22              
4Victorian Clinical Genetics Service, Parkville, Australia, ou_persistent22              
5Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society, ou_792549              
6Donders Institute for Brain, Cognition and Behaviour, External Organizations, ou_55236              
7University of Washington, Seattle, WA, USA, ou_persistent22              
8The Children’s Hospital at Westmead, Sydney, Australia, ou_persistent22              
9Boston Children’s Hospital , Boston, MA, USA, ou_persistent22              
10John Hunter Hospital, New Lambton Heights, Australia, ou_persistent22              
11Austin Health, Melbourne, Australia, ou_persistent22              
12Florey Institute of Neuroscience and Mental Health, Parkville, Australia, ou_persistent22              

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 Abstract: 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 speech, with 21 being verbal and eight minimally verbal. All verbal patients had dysarthric and apraxic features, with phonological deficits in most (14 out of 16). Language scores were low overall. In the 21 individuals who carried truncating or splice site variants and small deletions, expressive abilities were relatively preserved compared with comprehension.

Interpretation
FOXP1-related disorder is characterized by a complex speech and language phenotype with prominent dysarthria, broader motor planning and programming deficits, and linguistic-based phonological errors. Diagnosis of the speech phenotype associated with FOXP1-related dysfunction will inform early targeted therapy.

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Language(s): eng - English
 Dates: 2021-052021-06-092021-11
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1111/dmcn.14955
 Degree: -

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Title: Developmental Medicine & Child Neurology
Source Genre: Journal
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Pages: - Volume / Issue: 63 (12) Sequence Number: - Start / End Page: 1417 - 1426 Identifier: -