Leiden University Student Repository

Tavasszy, Louise (2024)

Algemeen Dagelijkse Levensverrichtingen; en het Executief Functioneren bij Mensen met het Coffin-Siris Syndroom: de Invloed van Verschillende Genmutaties

Master thesis | Education and Child Studies (MSc)

This study investigated Activities of Daily Living (ADL) and Executive Functioning (EF) in people with Coffin-Siris Syndrome (CSS) in the Netherlands. The main research question was wether differences in ADL and EF existed CSS-patients different types of genetic mutations. The differences between the groups of genetic mutations were examined taking into account the intercorrelation of ADL and EF, and the age of the (groups of) patients. In the study, 73 patients with Coffin-Siris Syndrome participated (N=73), divided into 2 groups: one group with the genetic mutation ARID1B and 1 group with other genetic mutations. The study data was obtained through the de Voorbereidende vragenlijst Coffin Siris Syndroom poli. This study revealed that no distinction could be made between different genetic mutations with respect to EF, F(1,26) = .21; p = .652. The same is true for ADL, F(1,31) =1.29; p = .264. On average, the groups with different genetic mutations did not score significantly...Show moreThis study investigated Activities of Daily Living (ADL) and Executive Functioning (EF) in people with Coffin-Siris Syndrome (CSS) in the Netherlands. The main research question was wether differences in ADL and EF existed CSS-patients different types of genetic mutations. The differences between the groups of genetic mutations were examined taking into account the intercorrelation of ADL and EF, and the age of the (groups of) patients. In the study, 73 patients with Coffin-Siris Syndrome participated (N=73), divided into 2 groups: one group with the genetic mutation ARID1B and 1 group with other genetic mutations. The study data was obtained through the de Voorbereidende vragenlijst Coffin Siris Syndroom poli. This study revealed that no distinction could be made between different genetic mutations with respect to EF, F(1,26) = .21; p = .652. The same is true for ADL, F(1,31) =1.29; p = .264. On average, the groups with different genetic mutations did not score significantly different from each other to distinguish between them. It was also found that when corrected for age, no distinction could be made between the different genetic mutations. There were no significant influences of age in either EF (p= .478) or ADL (p= .214). When looking at the entire target group of CSS patients, rather than the groups of genetic mutations, the study found that initially there does not appear to be a relationship between EF and ADL, r = .33, p = .053. However, the study does show a significant positive weak relationship between EF and ADL when adjusted for age, r = .35, p = .049. Thus the study did not find sufficient results to imply a distinction between different gene mutations in ADL and EF in clinical practice. However, there does seem to be a relationship between EF and ADL in CSS patients. Research with larger groups of CSS-patients with the ARID1B- and other mutations is necessary in order to reveal potential differences. This study investigated Activities of Daily Living (ADL) and Executive Functioning (EF) in people with Coffin-Siris Syndrome (CSS) in the Netherlands. The main research question was wether differences in ADL and EF existed CSS-patients different types of genetic mutations. The differences between the groups of genetic mutations were examined taking into account the intercorrelation of ADL and EF, and the age of the (groups of) patients. In the study, 73 patients with Coffin-Siris Syndrome participated (N=73), divided into 2 groups: one group with the genetic mutation ARID1B and 1 group with other genetic mutations. The study data was obtained through the de Voorbereidende vragenlijst Coffin Siris Syndroom poli. This study revealed that no distinction could be made between different genetic mutations with respect to EF, F(1,26) = .21; p = .652. The same is true for ADL, F(1,31) =1.29; p = .264. On average, the groups with different genetic mutations did not score significantly different from each other to distinguish between them. It was also found that when corrected for age, no distinction could be made between the different genetic mutations. There were no significant influences of age in either EF (p= .478) or ADL (p= .214). When looking at the entire target group of CSS patients, rather than the groups of genetic mutations, the study found that initially there does not appear to be a relationship between EF and ADL, r = .33, p = .053. However, the study does show a significant positive weak relationship between EF and ADL when adjusted for age, r = .35, p = .049. Thus the study did not find sufficient results to imply a distinction between different gene mutations in ADL and EF in clinical practice. However, there does seem to be a relationship between EF and ADL in CSS patients. Research with larger groups of CSS-patients with the ARID1B- and other mutations is necessary in order to reveal potential differences.Show less

Activities of Daily Living, Executive Functioning, Coffin-Siris Syndrome

Author

Tavasszy, Louise

Faculty

Faculty of Social & Behavioural Sciences

Specialisation

Orthopedagogiek

Supervisors

Stephan Huijbregts

ECTS Credits

20

Language

nl