Background: Rett Syndrome is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births. Severe physical, language, and social impairments impose a wide range of limitations in the assessment of the abilities of Rett patients. This study proposes an analysis and first validation of a Global Assessment and Intervention in Rett syndrome (GAIRS) Checklist for assessing behavioral, intellectual, academic, neuropsychological and psychosocial manifestations in patients with Rett Syndrome. We administered the GAIRS Checklist to 113 Italian patients with Rett Syndrome aged 4–42. Aims of this study: To examine the psychometric characteristics of the GAIRS Checklist. Moreover, the aim is also to examine the validity of GAIRS with test–retest correlation, convergent validity with similar functional measurements, such as the Vineland scales, and divergent validity with severity of disease scale, such as the RARS scale and severity of neuropsychiatric evaluations. Results: All 10 subscales of GAIRS were positively and significantly related to each other and to the total GAIRS score, and the subscales showed high levels of Cronbach’s alpha values (from.77 to.95). Principal axis factoring suggested two factors that explain 60% of the variance. Test–retest reliability is 0.82. This means that psychometric properties are reliable. Correlation for Concurrent validity with Vineland score was high and Divergent Validity with RARS was also high. Conclusion: The GAIRS Checklist used for Rett syndrome is acceptable and feasible to complete assessment in a clinical setting. Moreover, it can detect the complexity of this disease and may suggest the next step in terms of specific training in Rett syndrome.

Fabio, R. A., Semino, M., Giannatiempo, S., The GAIRS Checklist: a useful global assessment tool in patients with Rett syndrome, <<ORPHANET JOURNAL OF RARE DISEASES>>, 2022; 17 (1): 116-N/A. [doi:10.1186/s13023-022-02259-z] [http://hdl.handle.net/10807/207467]

The GAIRS Checklist: a useful global assessment tool in patients with Rett syndrome

Fabio, R. A.
Primo
;
Giannatiempo, S.
Ultimo
2022

Abstract

Background: Rett Syndrome is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births. Severe physical, language, and social impairments impose a wide range of limitations in the assessment of the abilities of Rett patients. This study proposes an analysis and first validation of a Global Assessment and Intervention in Rett syndrome (GAIRS) Checklist for assessing behavioral, intellectual, academic, neuropsychological and psychosocial manifestations in patients with Rett Syndrome. We administered the GAIRS Checklist to 113 Italian patients with Rett Syndrome aged 4–42. Aims of this study: To examine the psychometric characteristics of the GAIRS Checklist. Moreover, the aim is also to examine the validity of GAIRS with test–retest correlation, convergent validity with similar functional measurements, such as the Vineland scales, and divergent validity with severity of disease scale, such as the RARS scale and severity of neuropsychiatric evaluations. Results: All 10 subscales of GAIRS were positively and significantly related to each other and to the total GAIRS score, and the subscales showed high levels of Cronbach’s alpha values (from.77 to.95). Principal axis factoring suggested two factors that explain 60% of the variance. Test–retest reliability is 0.82. This means that psychometric properties are reliable. Correlation for Concurrent validity with Vineland score was high and Divergent Validity with RARS was also high. Conclusion: The GAIRS Checklist used for Rett syndrome is acceptable and feasible to complete assessment in a clinical setting. Moreover, it can detect the complexity of this disease and may suggest the next step in terms of specific training in Rett syndrome.
Inglese
Fabio, R. A., Semino, M., Giannatiempo, S., The GAIRS Checklist: a useful global assessment tool in patients with Rett syndrome, <<ORPHANET JOURNAL OF RARE DISEASES>>, 2022; 17 (1): 116-N/A. [doi:10.1186/s13023-022-02259-z] [http://hdl.handle.net/10807/207467]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/207467
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