Temporo-occipital spikes: Are they so typical for Kabuki syndrome?

Gennaro, Giancarlo Di; Foti, Sebastiano; Quarato, Pier Paolo; Albertini, G.; Majolini, L.; Onorati, Paolo

doi:10.1016/j.pediatrneurol.2004.07.001

Cited by 5 publications

(8 citation statements)

References 3 publications

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“…Yet no clear pattern of language impairment emerged regarding a particular domain of language. The language deficits seen here may also be linked to the commonly reported brain anomalies in Kabuki syndrome that generally involve frontal or temporal regions, key substrates subserving language [Di et al, 2004;Takano et al, 2009;Lodi et al, 2010;. This finding is in line with previous case series studies that have also reported heterogeneity in language impairment [Defloor et al, 2005;Vaux et al, 2005] and in contrast to a past suggestion of a possible key deficit in morphosyntax [ Van et al, 2000].…”

Section: Languagementioning

confidence: 99%

“…Children with Kabuki syndrome may present with oro-facial structural anomalies, hearing loss (mixed, sensorineural, or conductive), and central nervous system involvement, including epileptic seizures in frontal and temporal regions [Grunseich et al, 2001;Di et al, 2004;Takano et al, 2010;, amongst other features. Hypotonia is present in most affected individuals.…”

Section: Introductionmentioning

confidence: 99%

“…Hypotonia is present in most affected individuals. Brain anomalies or lesions [Grunseich et al, 2001;Di et al, 2004;Takano et al, 2010; lead to disorders of neural control of speech or language including dysarthria and dyspraxia [Li egeois and Morgan, 2012;Morgan et al, 2013;Li egeois et al, 2014]. Structural manifestations such as velopharyngeal incompetence or cleft palate may affect oral-nasal resonance and articulation [see Kummer, 2011 for review].…”

Section: Introductionmentioning

confidence: 99%

“…Structural manifestations such as velopharyngeal incompetence or cleft palate may affect oral-nasal resonance and articulation [see Kummer, 2011 for review]. Brain anomalies or lesions [Grunseich et al, 2001;Di et al, 2004;Takano et al, 2010; lead to disorders of neural control of speech or language including dysarthria and dyspraxia [Li egeois and Morgan, 2012;Morgan et al, 2013;Li egeois et al, 2014]. Hearing impairment disrupts speech and language input, with negative impacts on acquisition of these skills [e.g., Wake et al, 2004;Moeller et al, 2010].…”

Section: Introductionmentioning

confidence: 99%

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Speech and language in a genotyped cohort of individuals with Kabuki syndrome

Morgan

Mei

Costa

et al. 2015

American J of Med Genetics Pt A

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Speech and language deficits are commonly associated with Kabuki syndrome. Yet little is known regarding the specific symptomatology of these disorders, preventing use of targeted treatment programs. Here we detail speech and language in 16 individuals with Kabuki syndrome (thirteen with KMT2D mutations, one with a KDM6A mutation, and two mutation-negative cases), aged 4-21 years. The most striking speech deficit was dysarthria, characterised by imprecise consonants, harsh vocal quality, hypernasality, reduced rate and stress, and distorted pitch. Oromotor functioning was also impaired. Delayed, rather than disordered, articulation and phonology was common. Both receptive and expressive language abilities were reduced in the majority and deficits were noted across all language sub-domains (i.e., semantics, syntax, morphology, and pragmatics) with no clear differentiation or specific language profile. Individuals with Kabuki syndrome present with a heterogenous pattern of oromotor, speech, and language deficits. This variability fits with the multisystem nature of the disorder, which may encompass neurological, orofacial structural, hearing, and cognitive deficits, any or all of which may contribute to speech or language impairment. Our results suggest that all individuals with Kabuki syndrome have some level of communication deficit, warranting speech pathology involvement in all cases.

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Section: Languagementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Speech and language in a genotyped cohort of individuals with Kabuki syndrome

Morgan

Mei

Costa

et al. 2015

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…At the moment, one research project is oriented in improving expert software to allow children with high degree of motor deficits and good mental performances to interact with the environment by a computer (Human Computer Interface). Another study is oriented in defining the risk factors for epilepsy (Di Gennaro et al., 2004a; 2004b) in children with motor deficits and intrapartum asphyxia. This Centre is involved, together with the main Centre of Rome “San Raffaele Pisana”, in the follow‐up of people with Down syndrome and children affected by CP by using volumetric magnetic resonance imaging (MRI) of the brain.…”

mentioning

confidence: 99%