Kabuki Syndrome - a case report: Draft of a two-stage diagnostic procedure for verbal children with combined physical and mental disabilities
The case report presents a girl aged 10.5 years who was diagnosed with Kabuki syndrome. The inheritance of this syndrome is autosomal-dominant. The main clinical features include facial stigmata, malformations and congenital organ malformations, short stature and dysphagia. Phenotypic features inclu...
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| Format: | Article |
| Language: | ces |
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Association of Speech-Language Pathologists of Czech Republic
2023-06-01
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| Series: | Listy klinicke logopedie |
| Online Access: | https://casopis.aklcr.cz/en/artkey/lkl-202301-0001_kabuki-syndrome-a-case-report-draft-of-a-two-stage-diagnostic-procedure-for-verbal-children-with-combined-ph.php |
| _version_ | 1797769905441865728 |
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| author | Barbora Červenková Michaela Sedláčková |
| author_facet | Barbora Červenková Michaela Sedláčková |
| author_sort | Barbora Červenková |
| collection | DOAJ |
| description | The case report presents a girl aged 10.5 years who was diagnosed with Kabuki syndrome. The inheritance of this syndrome is autosomal-dominant. The main clinical features include facial stigmata, malformations and congenital organ malformations, short stature and dysphagia. Phenotypic features include impaired language skills and reasoning. Most children with this diagnosis have intellectual disability. The aim of this case report is to present a two-stage diagnostic procedure, applicable to individuals with symptomatic speech impairment based on combined intellectual and physical disabilities, so that the subsequent therapeutic approach can be targeted. Firstly, the level of activity and participation in the basic areas of psychomotor development (gross motor, fine motor, speech) was assessed, using tools from the ICF (International Classification of Functional Abilities, Disability and Health). The results obtained were correlated with those for eating, thinking and play, to determine whether or not development was uniform. Subsequently, the procedure for a more detailed analysis of communication skills was presented. The therapeutic section includes a description of the specific therapeutic procedure. |
| first_indexed | 2024-03-12T21:15:47Z |
| format | Article |
| id | doaj.art-4d1f3da894ef407f85bf24bf1a5a6e0b |
| institution | Directory Open Access Journal |
| issn | 2570-6179 |
| language | ces |
| last_indexed | 2024-03-12T21:15:47Z |
| publishDate | 2023-06-01 |
| publisher | Association of Speech-Language Pathologists of Czech Republic |
| record_format | Article |
| series | Listy klinicke logopedie |
| spelling | doaj.art-4d1f3da894ef407f85bf24bf1a5a6e0b2023-07-29T11:51:37ZcesAssociation of Speech-Language Pathologists of Czech RepublicListy klinicke logopedie2570-61792023-06-017141010.36833/lkl.2023.003lkl-202301-0001Kabuki Syndrome - a case report: Draft of a two-stage diagnostic procedure for verbal children with combined physical and mental disabilitiesBarbora Červenková0Michaela Sedláčková1Mgr. Michaela Sedláčková, Státní léčebné lázně Janské Lázně, Dětská léčebna Vesna, Česká republika. E-mail: michaela.sedlackova@janskelazne.com.Mgr. Michaela Sedláčková, Státní léčebné lázně Janské Lázně, Dětská léčebna Vesna, Česká republika. E-mail: michaela.sedlackova@janskelazne.com.The case report presents a girl aged 10.5 years who was diagnosed with Kabuki syndrome. The inheritance of this syndrome is autosomal-dominant. The main clinical features include facial stigmata, malformations and congenital organ malformations, short stature and dysphagia. Phenotypic features include impaired language skills and reasoning. Most children with this diagnosis have intellectual disability. The aim of this case report is to present a two-stage diagnostic procedure, applicable to individuals with symptomatic speech impairment based on combined intellectual and physical disabilities, so that the subsequent therapeutic approach can be targeted. Firstly, the level of activity and participation in the basic areas of psychomotor development (gross motor, fine motor, speech) was assessed, using tools from the ICF (International Classification of Functional Abilities, Disability and Health). The results obtained were correlated with those for eating, thinking and play, to determine whether or not development was uniform. Subsequently, the procedure for a more detailed analysis of communication skills was presented. The therapeutic section includes a description of the specific therapeutic procedure.https://casopis.aklcr.cz/en/artkey/lkl-202301-0001_kabuki-syndrome-a-case-report-draft-of-a-two-stage-diagnostic-procedure-for-verbal-children-with-combined-ph.php |
| spellingShingle | Barbora Červenková Michaela Sedláčková Kabuki Syndrome - a case report: Draft of a two-stage diagnostic procedure for verbal children with combined physical and mental disabilities Listy klinicke logopedie |
| title | Kabuki Syndrome - a case report: Draft of a two-stage diagnostic procedure for verbal children with combined physical and mental disabilities |
| title_full | Kabuki Syndrome - a case report: Draft of a two-stage diagnostic procedure for verbal children with combined physical and mental disabilities |
| title_fullStr | Kabuki Syndrome - a case report: Draft of a two-stage diagnostic procedure for verbal children with combined physical and mental disabilities |
| title_full_unstemmed | Kabuki Syndrome - a case report: Draft of a two-stage diagnostic procedure for verbal children with combined physical and mental disabilities |
| title_short | Kabuki Syndrome - a case report: Draft of a two-stage diagnostic procedure for verbal children with combined physical and mental disabilities |
| title_sort | kabuki syndrome a case report draft of a two stage diagnostic procedure for verbal children with combined physical and mental disabilities |
| url | https://casopis.aklcr.cz/en/artkey/lkl-202301-0001_kabuki-syndrome-a-case-report-draft-of-a-two-stage-diagnostic-procedure-for-verbal-children-with-combined-ph.php |
| work_keys_str_mv | AT barboracervenkova kabukisyndromeacasereportdraftofatwostagediagnosticprocedureforverbalchildrenwithcombinedphysicalandmentaldisabilities AT michaelasedlackova kabukisyndromeacasereportdraftofatwostagediagnosticprocedureforverbalchildrenwithcombinedphysicalandmentaldisabilities |