11/7/2022 0 Comments Apraxia of speech![]() ![]() At times, it’s hard to distinguish between them, especially since it’s possible for all three to be present at the same time. Though speech development and intelligibility usually improve over time, a lifelong speech and language impairment might be present.Aphasia, apraxia of speech and oral apraxia are communication disorders that can result from a stroke. However, learning disabilities or behavioral abnormalities may additionally occur. It is usually good in the context of intragenic FOXP2 variants, as clinical aspects are limited to speech and language impairment in most cases. Prognosis depends on the underlying cause of CAS. Augmentative and alternative communication (use of sign language, picture boards or computers) may be useful in some cases. Management and treatmentĪ multidisciplinary team including a speech and language pathologist, a pediatrician, an occupational therapist, and a neuropsychologist is required for evaluation of the phenotypic extent and to determine the individual treatment plan. Recurrence risk for CAS due to FOXP2 alterations is low if the pathogenic variant occurred de novo and 50 % if it is inherited from one of the parents. Recurrence risk for siblings of an affected individual depends on the underlying cause of CAS. In principle possible, if the underlying pathogenic variant in the family is known. CAS, although mostly not isolated, can also occur secondary to intrauterine stroke, infections, or trauma. ![]() intellectual disability, epilepsy, growth phenotypes, malformations) and includes 7q31 microdeletion syndrome, 16p11.2 microdeletion syndrome, 7q11.23 duplication syndrome, KANSL1-related intellectual disability syndrome, and GRIN2A-related disorders. Differential diagnosisĭifferential diagnosis includes syndromic disorders with overlapping, prominent speech and language impairment and a variety of additional clinical aspects (e. Diagnostic methodsĭiagnosis is usually by targeted analysis upon clinical suspicion or by more unbiased approaches such as chromosomal microarray analysis (deletions including FOXP2), multigene panel or exome sequencing. Usually, heterozygous missense variants within the forkhead domain or truncating variants are identified but also larger deletions containing FOXP2 or structural aberrations disrupting FOXP2 have been reported. FOXP2 (7q31.1) encodes forkhead box protein P2, a member of the forkhead box family of transcription factors. The disorder may be idiopathic or due to FOXP2 (7q31.1) haploinsufficiency. Additional manifestations including dysarthria, oral motor dyspraxia, receptive and expressive language impairment, impairment of reading and spelling, global developmental delay, autistic features, and minor facial dysmorphism have been described occasionally for patients with CAS due to FOXP2 variants. Initial signs may include absence of babbling or delay of first words during infancy. ![]() Clinical descriptionĬAS is characterized by the impairment of the precision and consistency of movements underlying speech in the absence of neuromuscular deficits. Moreover, a few individuals with speech and language disorders and larger deletions on chromosome 7 including FOXP2 or other structural variants in or next to FOXP2 have been reported. Regarding CAS due to FOXP2 variants, approximately 35 individuals from 11 families with intragenic, pathogenic variants have been described in the literature so far. ![]() The exact prevalence of isolated childhood apraxia of speech (CAS) is unknown. ![]()
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