Purpose: Stickler Syndrome (STL) is a connective tissue disorder which occurs congenitally and affects several areas of development in childhood. This study aims to review the studies in the literature on STL and compile information about the general characteristics, clinical features, language and speech characteristics, diagnostic processes, and treatment of the syndrome. Method: The articles published between 1990 and 2021 were examined using the review method. “Stickler Sendromu”, “Stickler Syndrome”, “Stickler Syndrome speech and language”, “Stickler Syndrome clinical features”, “Stickler Syndrome genetic”, “Stickler Syndrome treatment”, “Stickler Syndrome diagnosis”, “Pierre Robin Sequence Stickler Syndrome” keywords were used to find related articles. Studies published in peer-reviewed journals and containing information about the clinical features of STL were included in the review. Results: The reviewed articles were compiled under three main headings: clinical features, diagnosing processes, and treatment of STL. The clinical features are covered under five sub-headings: craniofacial abnormalities, hearing loss, speech and language features, ocular abnormalities, and skeletal abnormalities. There are some research results related to STL under every heading. The genes affected seem to differ by the type of SLT observed. STL’s characteristic visual features include a flat nose with a raised tip, visable nostrils and micrognatia (Baker et al. 2011; Robin et al., 2017; Snead and Yates, 1999). The flat facial features are highly detectable in early childhood but become less so as the child grows. Micrognatia is considered as a part of PRS (Pierre Robin Sequence). In addition to micrognatia, PRS is characterised by cleft palate (60-90%) and glossoptosis (Robin et al., 2017). When the clinical characteristics of Stickler Syndrome are considered, it is observed that the condition frequently affects auditory, ocular, and craniofacial systems. Along with micrognathia, cleft palate, bifid uvula, and hearing loss are some of the other most frequent differences. In particular, the differences in craniofacial systems affect the language and speech development of children with STL. Conclusion: It is significant for speech and language therapists to recognize the distinguishing characteristic features of STL. Speech and language therapists should definitely evaluate the children who are seen at the clinic with cleft palate or PRS with the suspicion of STL. The treatment of the individuals with STL should be planned with the needs of the individual, thereby considering all developmental deficiencies, adopting a multidisciplinary approach. Intervention with the right timing is required particularly for craniofacial anomalies for the speech and language development of the children with STL.
Keywords
language, speech, speech and language therapist, craniofacial, Stickler Syndrome
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