Aetiology of childhood apraxia of speech: A clinical practice update for paediatricians

Morgan, Angela; Webster, Richard

doi:10.1111/jpc.14150

Cited by 36 publications

(35 citation statements)

References 41 publications

(93 reference statements)

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“…CAS and dysarthria often co-occur in cases of severe disruption to neurodevelopment White et al, 2010). Further, it is common for children to experience speech impairments other than motor speech disorders (Morgan & Webster, 2018). Children with 16p11.2 deletion, for example, have been found to present with signs of CAS and dysarthria alongside other developmental speech sound disorders of phonological delay, phonological disorder, or articulation disorder (Fedorenko et al, 2015;Mei et al, 2018).…”

Section: Classification Of Developmental Motor Speech Disordersmentioning

confidence: 99%

Motor speech impairment predicts expressive language in minimally verbal, but not low verbal, individuals with autism spectrum disorder

Chenausky

Brignell

Morgan

et al. 2019

Autism & Developmental Language Impairments

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Background and aims: Developmental motor speech impairment has been suspected, but rarely systematically examined, in low-and minimally verbal individuals with autism spectrum disorder. We aimed to investigate the extent of motor speech impairment in this population and its relation to number of different words produced during a semistructured language sample. Methods: Videos of 54 low-verbal and minimally verbal individuals (ages 4;4-18;10) performing portions of a speech praxis test were coded for signs of motor speech impairment (e.g., childhood apraxia of speech). Age, autism spectrum disorder severity, nonspeech oral-motor ability, speech production ability, nonverbal IQ, and receptive vocabulary were compared between groups. Results: Four groups emerged: (1) speech within normal limits (n ¼ 12), (2) non-childhood apraxia of speech impairment (n ¼ 16), (3) suspected childhood apraxia of speech (n ¼ 13), and (4) insufficient speech to rate (n ¼ 13). Groups differed significantly in nonspeech oral-motor ability, speech production ability, nonverbal IQ, and receptive vocabulary. Overall, only speech production ability and receptive vocabulary accounted for significant variance in number of different words. Receptive vocabulary significantly predicted number of different words only in Groups 1 and 2, while speech production ability significantly predicted number of different words only in Groups 3 and 4. Conclusions and implications: If replicated, our findings have important implications for developing much-needed spoken language interventions in minimally verbal individuals with autism spectrum disorder.

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Section: Classification Of Developmental Motor Speech Disordersmentioning

confidence: 99%

Motor speech impairment predicts expressive language in minimally verbal, but not low verbal, individuals with autism spectrum disorder

Chenausky

Brignell

Morgan

et al. 2019

Autism & Developmental Language Impairments

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“…NDDs are often characterized by delays in speech and language development (Morgan and Webster, 2018;Tomblin, 2011). Indeed, variants in genes implicated in ID and ASD, such as the Forkhead box transcription factors (FOXP1/2) and contactin-associated protein-like 2 (CNTNAP2) are also associated with speech-and language-related disorders (Fisher and Scharff, 2009;Hamdan et al, 2015;Morgan and Webster, 2018;Rodenas-Cuadrado et al, 2016). Given that individuals with single allele deletions of the UPF2 locus exhibit NDD (Nguyen et al, 2013), we wondered whether Upf2-mediated NMD might also be implicated in speech and language function.…”

Section: Humans Carrying Pathogenic Variants In Upf2 Exhibit Speech Amentioning

confidence: 99%

“…Although the clinical presentations of ASD associated with dysfunctional NMD are highly heterogeneous, one of the major hallmarks is impairment of language development and verbal communication (Nguyen et al, 2013). Indeed, variants in additional genes shown to be causal for NDDs, including the FOXP transcription factors and CNTNAP2, have also been implicated in speech and language development (Fisher and Scharff, 2009;Hamdan et al, 2015;Morgan and Webster, 2018;Rodenas-Cuadrado et al, 2016). Our data describing UPF2 frameshift variants that impair NMD in cases with varied speech and language deficits (Figure 1) support the idea that mutation of UPF2 and, consequently, impaired NMD may be post-transcriptional causes of communication deficits.…”

Section: Impaired Nmd Leads To Intellectual Disability Asd and Speementioning

confidence: 99%

“…All were assessed by a clinical geneticist and speech and language pathologist. A standard case history and medical interview was conducted with the parents to confirm medical and developmental history (Mei et al, 2018;Morgan and Webster, 2018). Case 3 was non-verbal and was assessed using the Vineland Adaptive Behavior Scales interview format (Sparrow et al, 2005).…”

Section: Experimental Model and Subject Detailsmentioning

confidence: 99%

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Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

Johnson

Stoica

Liu

et al. 2019

Neuron

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In humans, disruption of nonsense-mediated decay (NMD) has been associated with neurodevelopmental disorders (NDDs) such as autism spectrum disorder and intellectual disability. However, the mechanism by which deficient NMD leads to neurodevelopmental dysfunction remains unknown, preventing development of targeted therapies. Here we identified novel proteincoding UPF2 (UP-Frameshift 2) variants in humans with NDD, including speech and language deficits. In parallel, we found that mice lacking Upf2 in the forebrain (Upf2 fb-KO mice) show impaired NMD, memory deficits, abnormal long-term potentiation (LTP), and social and communication deficits. Surprisingly, Upf2 fb-KO mice exhibit elevated expression of immune genes and brain inflammation. More importantly, treatment with two FDA-approved anti-Johnson et al.

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“…Heterozygous mutations of the FOXP2 transcription factor are associated with a speech deficit called developmental verbal dyspraxia (Lai et al, 2001) or childhood apraxia of speech (Morgan and Webster, 2018); FOXP denotes human protein, Foxp rodent, and FoxP all other species (Kaestner et al, 2000). Genes and mRNA are italicized.…”

Section: Introductionmentioning

confidence: 99%

Differential Song Deficits after Lentivirus-Mediated Knockdown of FoxP1, FoxP2, or FoxP4 in Area X of Juvenile Zebra Finches

et al. 2019

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Mutations in the transcription factors FOXP1 and FOXP2 are associated with speech impairments. FOXP1 is additionally linked to cognitive deficits, as is FOXP4. These FoxP proteins are highly conserved in vertebrates and expressed in comparable brain regions, including the striatum. In male zebra finches, experimental manipulation of FoxP2 in Area X, a striatal song nucleus essential for vocal production learning, affects song development, adult song production, dendritic spine density, and dopamine-regulated synaptic transmission of striatal neurons. We previously showed that, in the majority of Area X neurons FoxP1, FoxP2, and FoxP4 are coexpressed, can dimerize and multimerize with each other and differentially regulate the expression of target genes. These findings raise the possibility that FoxP1, FoxP2, and FoxP4 (FoxP1/2/4) affect neural function differently and in turn vocal learning. To address this directly, we downregulated FoxP1 or FoxP4 in Area X of juvenile zebra finches and compared the resulting song phenotypes with the previously described inaccurate and incomplete song learning after FoxP2 knockdown. We found that experimental downregulation of FoxP1 and FoxP4 led to impaired song learning with partly similar features as those reported for FoxP2 knockdowns. However, there were also specific differences between the groups, leading us to suggest that specific features of the song are differentially impacted by developmental manipulations of FoxP1/2/4 expression in Area X.

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Aetiology of childhood apraxia of speech: A clinical practice update for paediatricians

Cited by 36 publications

References 41 publications

Motor speech impairment predicts expressive language in minimally verbal, but not low verbal, individuals with autism spectrum disorder

Motor speech impairment predicts expressive language in minimally verbal, but not low verbal, individuals with autism spectrum disorder

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

Differential Song Deficits after Lentivirus-Mediated Knockdown of FoxP1, FoxP2, or FoxP4 in Area X of Juvenile Zebra Finches

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