INS NYC 2024 Program

Poster	Poster Session 01 Program Schedule 02/14/2024 02:30 pm - 03:45 pm Room: Shubert Complex (Posters 1-60) Poster Session 01: Cognitive, Psychotherapeutic, and Psychosocial Intervention/Rehabilitation Final Abstract #34 Math and Visuospatial Skills Among Females with Fragile X Premutation: A Cross-Sectional Analysis Amanda Kenepp, Queens College, CUNY, Flushing, United States Shira Russell-Giller, Queens College, CUNY, Flushing, United States Bella Weiss, Queens College, CUNY, Flushing, United States Elizabeth Yakubova, Queens College, CUNY, Flushing, United States Kina Brailsford, Queens College, CUNY, Flushing, United States Tatyana Adayev, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, United States Anne Glicksman, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, United States Nicole Tortora, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, United States Emily Allen, Emory University School of Medicine, Atlanta, United States Lisa Shubeck, Emory University School of Medicine, Atlanta, United States Jessica Hunter, RTI International, Research Triangle Park, United States Veronica Hinton, Queens College, CUNY, Flushing, United States Category: Genetics/Genetic Disorders Keyword 1: fragile X syndrome Keyword 2: mathematics ability Keyword 3: visuospatial functions Objective: The fragile x premutation (PM) (defined as 55-200 expanded CGG repeats in the X-linked FMR1 gene) is present in approximately 1.5 million people in the US. Adult with a fragile X PM allele have been shown to have subtle yet significant weaknesses in math and visuospatial skills, although findings across studies have been equivocal. Adults with a PM are at increased risk for a late life neurodegenerative disorder (FXTAS, Fragile X-Associated Tremor/Ataxia syndrome) often associated with weak executive functioning and memory problems. Women with a fragile X PM are at further risk of developing fragile X-associated primary ovarian insufficiency (FXPOI). The mechanism underlying these disorders is believed to be related to accumulation of cellular mRNA and its downstream effects. Whether children with a PM have a cognitive profile associated with the PM is unknown. This study aims to examine these questions cross-sectionally among females with a PM allele. The goals are to: 1) identify if there are any differences in math and visuospatial skills between school-aged girls with a PM and non-PM controls, and 2) compare math and visuospatial skills in school-aged girls and adult women with a PM allele. Participants and Methods: Participants included 12 girls with a PM (age=10.81±1.08 years), 15 non-PM control girls (age=10.90±1.44 years), and 16 adult women with a PM (age=39.88±4.32 years). Standardized assessment measures included Woodcock Johnson-IV (WJ-IV) Tests of Achievement- Calculation (WJ-Calc), WJ-IV Tests of Cognitive Abilities- Number Series (WJ-NS) and Visualization (WJ-Vis). Between group comparisons were run using independent samples t-tests. Results: No significant differences in demographic variables (age, race/ethnicity, maternal education) were noted between girls with a PM and non-PM controls. On cognitive measures, no significant differences were noted between girls with a PM and controls on WJ-Calc (PM=102.50, 11.19; control=103.07, 14.98; t=0.109, p=0.457), WJ-NS (PM=104.08, 17.05; control=105.33, 12.44; t=0.220, p=0.414), or WJ-Vis (PM=100.08, 11.935; control=101.93, 17.074; t=0.363, p=0.360). When comparing girls and women with a PM, no significant differences were noted on any measures: WJ-Calc (child=102.50, 11.19; adult=100.69, 9.45; t=0.464, p=0.323), WJ-NS (child=104.08, 17.05; adult=110.12, 8.43; t=-1.235, p=0.114), or WJ-Vis (child=100.08, 11.935; adult=103.94, 14.553; t=-0.747, p=0.431). Conclusions: The findings generally do not support the hypotheses that the PM allele is associated with a distinct cognitive profile. Children with a PM did not perform more poorly than controls on measures examined nor was there evidence of a worsening in cognitive performance over time. Girls and women with a PM had mean math and visuospatial scores in the average range, and the groups performed similarly to each other.

Poster

02/14/2024
02:30 pm - 03:45 pm
Room: Shubert Complex (Posters 1-60)

Poster Session 01: Cognitive, Psychotherapeutic, and Psychosocial Intervention/Rehabilitation

Final Abstract #34

Math and Visuospatial Skills Among Females with Fragile X Premutation: A Cross-Sectional Analysis

Amanda Kenepp, Queens College, CUNY, Flushing, United States
Shira Russell-Giller, Queens College, CUNY, Flushing, United States
Bella Weiss, Queens College, CUNY, Flushing, United States
Elizabeth Yakubova, Queens College, CUNY, Flushing, United States
Kina Brailsford, Queens College, CUNY, Flushing, United States
Tatyana Adayev, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, United States
Anne Glicksman, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, United States
Nicole Tortora, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, United States
Emily Allen, Emory University School of Medicine, Atlanta, United States
Lisa Shubeck, Emory University School of Medicine, Atlanta, United States
Jessica Hunter, RTI International, Research Triangle Park, United States
Veronica Hinton, Queens College, CUNY, Flushing, United States

Category: Genetics/Genetic Disorders

Keyword 1: fragile X syndrome
Keyword 2: mathematics ability
Keyword 3: visuospatial functions

Objective:

The fragile x premutation (PM) (defined as 55-200 expanded CGG repeats in the X-linked FMR1 gene) is present in approximately 1.5 million people in the US. Adult with a fragile X PM allele have been shown to have subtle yet significant weaknesses in math and visuospatial skills, although findings across studies have been equivocal. Adults with a PM are at increased risk for a late life neurodegenerative disorder (FXTAS, Fragile X-Associated Tremor/Ataxia syndrome) often associated with weak executive functioning and memory problems. Women with a fragile X PM are at further risk of developing fragile X-associated primary ovarian insufficiency (FXPOI). The mechanism underlying these disorders is believed to be related to accumulation of cellular mRNA and its downstream effects. Whether children with a PM have a cognitive profile associated with the PM is unknown. This study aims to examine these questions cross-sectionally among females with a PM allele. The goals are to: 1) identify if there are any differences in math and visuospatial skills between school-aged girls with a PM and non-PM controls, and 2) compare math and visuospatial skills in school-aged girls and adult women with a PM allele.

Participants and Methods:

Participants included 12 girls with a PM (age=10.81±1.08 years), 15 non-PM control girls (age=10.90±1.44 years), and 16 adult women with a PM (age=39.88±4.32 years). Standardized assessment measures included Woodcock Johnson-IV (WJ-IV) Tests of Achievement- Calculation (WJ-Calc), WJ-IV Tests of Cognitive Abilities- Number Series (WJ-NS) and Visualization (WJ-Vis). Between group comparisons were run using independent samples t-tests.

Results:

No significant differences in demographic variables (age, race/ethnicity, maternal education) were noted between girls with a PM and non-PM controls. On cognitive measures, no significant differences were noted between girls with a PM and controls on WJ-Calc (PM=102.50, 11.19; control=103.07, 14.98; t=0.109, p=0.457), WJ-NS (PM=104.08, 17.05; control=105.33, 12.44; t=0.220, p=0.414), or WJ-Vis (PM=100.08, 11.935; control=101.93, 17.074; t=0.363, p=0.360). When comparing girls and women with a PM, no significant differences were noted on any measures: WJ-Calc (child=102.50, 11.19; adult=100.69, 9.45; t=0.464, p=0.323), WJ-NS (child=104.08, 17.05; adult=110.12, 8.43; t=-1.235, p=0.114), or WJ-Vis (child=100.08, 11.935; adult=103.94, 14.553; t=-0.747, p=0.431).

Conclusions:

The findings generally do not support the hypotheses that the PM allele is associated with a distinct cognitive profile. Children with a PM did not perform more poorly than controls on measures examined nor was there evidence of a worsening in cognitive performance over time. Girls and women with a PM had mean math and visuospatial scores in the average range, and the groups performed similarly to each other.