Purpose: Joubert
Syndrome (JS) is a rare syndrome with the autosomal recessive transition. It is
reported that the prevalence is 1/80.000-1/100.000 in live births. Individuals
with JS experience problems in general development and language skills as well
as general health problems. However, studies on the language skills of these individuals
are quite limited. Furthermore, any studies examining the play skills could not
be reached. The aim of this study was to evaluate the general development,
language development, and play skills of a child with JS. Method: The study was
designed as a case study. The subject of this study was a 50 months-old boy.
Data were gathered using Ankara Developmental Screening Inventory (Savaşır,
Sezgin and Erol, 1994), The Turkish Version of the “MacArthur–Bates
Communicative Development Inventory (Acarlar et al., 2009), Test of Early
Language Development-Third Edition: Turkish Version (Topbaş and Güven, 2011),
and Play Skills Observation Form, developed by the first author. The play skills observation form
included skills in developmental order such as sensory-motor play skills (e.g.,
shaking, throwing, mouthing..), placing objects in a pattern (e.g., sequencing,
organizing..), naming objects and/or using them appropriately, using objects
appropriately in relation to others, and different types of symbolic play. Results:
The results revealed that the participant had significant delays in all
areas assessed (general development, communication, language, and play
skills), however, the language and play
skills developed in parallel with each other. Conclusion: Research findings show similarities with other studies
on general development and language characteristics of JS. There is a need for
more studies assessing language and play skills of individuals with JS.
Keywords
Joubert Syndrome, language skills, language assessment, play skills, play assessment
References
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