Evaluation for language and speech development in Kabuki make-up syndrome: A case report

Muluk, Nuray Bayar; Yalçinkaya, Fulya; Budak, Bilgehan; Gündüz, Selen; Ayas, K

doi:10.1016/j.ijporl.2009.09.041

Cited by 6 publications

(7 citation statements)

References 14 publications

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“…The distinctive facial features of KS, such as arched eyebrows, eversion of the lower eyelids, and long palpebral fissures, are major signs of this syndrome, and the term "Kabuki syndrome" is derived from these characteristics. Patients with 22q11.2 deletion syndrome have complications similar to those of KS patients; however, these patients do not have such distinctive facial features [17].…”

Section: Discussionmentioning

confidence: 98%

A case of Kabuki syndrome with a large palatal fistula and malocclusion

Yoshida

Saito

Kamiyama

et al. 2015

Journal of Oral and Maxillofacial Surgery, Medicine, and Pathol

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Section: Discussionmentioning

confidence: 98%

A case of Kabuki syndrome with a large palatal fistula and malocclusion

Yoshida

Saito

Kamiyama

et al. 2015

Journal of Oral and Maxillofacial Surgery, Medicine, and Pathol

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“…PRS includes a micrognatia or underdevelopment of the mandible which causes glossoptosis, a relatively enlarged tongue relative to the space within the oral cavity. The glossoptosis interferes with the fusion of the palatal shelves during the early embryonic period (4 -12 weeks) resulting in a sub -total cleft of the secondary palate [12][13][14][15][16][17][18][19][20][21][22].…”

Section: Cleft Palate and Submucous Cleft Palatementioning

confidence: 99%

“…It is characterized by distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows with the lateral one third dispersed or sparse, depressed nasal tip, and prominent ears), skeletal anomalies, dermatoglyhphic abnormalities, short stature and intellectual impairment. A number of other manifestations involving other organ systems can aid in the diagnosis and management of KS [17]. KS is caused by mutations of the KMT2D gene, located on the 12 chromosome (12q13.12).…”

Section: Kabuki Syndromementioning

confidence: 99%

“…KS is caused by mutations of the KMT2D gene, located on the 12 chromosome (12q13.12). The diagnosis is made by FISH or micro -array tests [17,26].…”

Section: Kabuki Syndromementioning

confidence: 99%

“…Most patients with KS have a history of delayed speech and language development. Articulation errors, including compensatory articulation patterns are highly frequent [17,19].…”

Section: Kabuki Syndromementioning

confidence: 99%

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Diagnosis and Management of Velopharyngeal Insufficiency Associated with Chromosomal Syndromes

Ysunza

Craniofacial²,

Lozon³

2013

Clon Transgen

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All congenital structural defects in the body are the result of an error in morphogenesis. Morphogenesis takes place around 25 to 29 days of intrauterine life. Chromosomal syndromes involve a phenotypically significant structural and/or numerical chromosomal abnormality.An insufficient function of the velopharyngeal sphincter induces excessive nasal resonance during speech. This abnormal resonance is called hypernasality. A deficient seal of the velopharyngeal sphincter creates an airflow leaking into the rhinopharynx, resulting in abnormal air turbulence through the nasal cavities which can be easily perceived and is called nasal emission. Hypernasality and nasal emission are the clinical signs of velopharyngeal insufficiency (VPI). In other words, VPI is the velopharyngeal inability to create an efficient seal during speech.Most chromosomal syndromes cause VPI as a consequence of a cleft palate. However, when patients with a chromosomal abnormality and VPI are being clinically assessed, it is essential to keep in mind that an apparently and morphologically intact uvula and velum do not rule out the possibility of a sub mucous cleft palate.Several chromosomal syndromes can be associated with VPI, including: 22q11.2 deletion syndrome (22q11.2DS) or velocardiofacial syndrome among other names, Opitz G/BBB syndrome (OS), Kabuki syndrome (KS) and Jacobsen syndrome (JS). Pierre -Robin sequence (PRS) can be associated with some chromosomal syndromes. In these cases, PRS is referred as syndromic PRS.In this paper, the diagnosis and management of VPI in the most common chromosomal syndromes is discussed.

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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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Evaluation for language and speech development in Kabuki make-up syndrome: A case report

Cited by 6 publications

References 14 publications

A case of Kabuki syndrome with a large palatal fistula and malocclusion

A case of Kabuki syndrome with a large palatal fistula and malocclusion

Diagnosis and Management of Velopharyngeal Insufficiency Associated with Chromosomal Syndromes

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

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