Leiden University Student Repository

van der Salm, Julia (2025)

Taalbegrip en expressieve taal bij kinderen met het Coffin-Siris syndroom: De verschillen op gedragsniveau tussen de typen van het Coffin-Siris syndroom

Master thesis | Education and Child Studies (MSc)

Background. Coffin-Siris syndrome (CSS) is a rare genetic syndrome characterized by coarse facial features, physical impairments, and cognitive delays. The phenotypes of individuals with CSS can vary widely. In literature, a distinction is made between three subtypes of CSS based on genetic mutations. Most people with CSS experience language problems. This study looked into language comprehension and expressive language by children with CSS. It is known in literature that language problems can cause behavioral problems. The aim of this study is to investigate language comprehension and expressive language in children with CSS to gain a better understanding of these abilities across the different subtypes of CSS and to see if there is a difference between the subtypes. Methods. The study population consisted of 35 participants aged between 4;1 and 18;0 years old, who completed standardized assessments of language comprehension (Peabody Picture Vocabulary Test, PPVT) and expressive...Show moreBackground. Coffin-Siris syndrome (CSS) is a rare genetic syndrome characterized by coarse facial features, physical impairments, and cognitive delays. The phenotypes of individuals with CSS can vary widely. In literature, a distinction is made between three subtypes of CSS based on genetic mutations. Most people with CSS experience language problems. This study looked into language comprehension and expressive language by children with CSS. It is known in literature that language problems can cause behavioral problems. The aim of this study is to investigate language comprehension and expressive language in children with CSS to gain a better understanding of these abilities across the different subtypes of CSS and to see if there is a difference between the subtypes. Methods. The study population consisted of 35 participants aged between 4;1 and 18;0 years old, who completed standardized assessments of language comprehension (Peabody Picture Vocabulary Test, PPVT) and expressive language (Clinical Evaluation of Language Fundamentals, CELF Preschool/CELF-4). The developmental age was determined by using standardized cognitive tests. Behavioral problems were assessed using the Child Behavior Checklist (CBCL). Language scores were compared to both chronological and developmental age with a paired t-test and an independent t test. A single correlation was used to determine if language comprehension and expressive language are predictors of behavioral problems. The differences between the subtypes of CSS investigated were investigated with an ANOVA. Results and conclusion. Children with CSS showed significant delays in language comprehension and expressive language compared to the chronological age of the participants. Expressive language was particularly affected when compared to developmental age. Some children remained nonverbal. A strong correlation was found between language comprehension and expressive language, but neither measure predicted behavioral problems. Among the three CSS subtypes, only type 1 showed a significant difference between language comprehension and expressive language.Show less

Coffin-Siris syndrome, language comprehension, expressive language

Author

van der Salm, Julia

Faculty

Faculty of Social & Behavioural Sciences

Specialisation

Orthopedagogiek

Supervisors

Verhoef, M.E.
Van Rijn, S.

ECTS Credits

20

Language

nl