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22 Adaptive Functioning in 22q11.2 Deletion Syndrome Across the Lifespan: Where are the Social Determinants of Health?
- Karen A Dorsman, Joy Neumann, Mary Hershberger, Kelli N Triplett, Sarah E Messiah, Veronica Bordes Edgar
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- Journal:
- Journal of the International Neuropsychological Society / Volume 29 / Issue s1 / November 2023
- Published online by Cambridge University Press:
- 21 December 2023, pp. 630-631
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Objective:
22q11.2 Deletion Syndrome (22q11DS) is a multi-systemic disorder with great clinical heterogeneity. It is the most common microdeletion syndrome and one of the most common genetic causes of developmental delays (e.g., motor/speech). 22q11DS is estimated to occur between 1/2,000-4,000 live births. However, the diverse clinical presentation of 22q11DS and health inequities that impact ethnically, racially, linguistically, and economically marginalized groups, make early identification, diagnosis, and access to beneficial early interventions (e.g., speech/behavioral therapy) even more challenging. Therefore, 22q11DS’ true prevalence may be larger than documented. Challenges associated with diagnosis, as well as neurocognitive, psychiatric, and medical co-morbidities associated with 22q11DS have been reported to affect the quality of life and well-being of people living with 22q11DS and their families. Yet, there is limited longitudinal data on lifelong functional outcomes of this population and the social factors that may shape them. This study aimed to 1) review the extant literature on adaptive functioning across the lifespan in 22q11DS and 2) report on relevant social and structural variables considered in the literature to contextualize adaptive functioning.
Participants and Methods:A scoping review was conducted between January-June 2022 across six electronic databases: PubMed, Scopus, PsycINFO, Ovid MEDLINE, EBSCO, and Embase. The 'building block’ method was used to identify and design a comprehensive search strategy used to scan publications’ titles, keywords, and abstracts. Citation mining strategy was utilized to identify additional relevant studies. The following inclusion criteria was met: 1) empirical studies conducted in humans, 2) participants with confirmed diagnosis of 22q11DS, 3) evaluation of adaptive functioning, 4) use of at least one standardized measure of adaptive functioning and 5) written or translated into English or Spanish.
Results:Eighty-four records were initially identified. After deduplication, abstract screening, and full record reviews, a total of twenty-two studies met inclusion criteria for this review. Only eight publications explored adaptive skills as one of their primary outcomes. Clinically significant symptoms of anxiety, withdrawal, anhedonia, and flat affect were associated with worse functional outcomes. Fifteen studies reported between one and three demographic variables (e.g., race/ethnicity, years of education), and only two studies documented mental health treatment status/history. Most studies reported lower adaptive abilities in participants with 22q11DS independent from their cognitive abilities, but the majority of participants scored between the below average range and exceptionally low range on measures of intellectual functioning. Nonetheless, information on contextual variables (e.g., educational/occupational opportunities) that may help to interpret these findings was lacking.
Conclusions:Methodological differences (e.g., definition and measurement of adaptive functioning), recruitment bias (small, clinic-based identified samples) and lack of information regarding contextual level factors, may be limiting our understanding of the neurocognitive and neuropsychiatric trajectories of people with 22q11DS. It is vital to increase representative samples in epidemiological/clinical studies, as well as research examining the social and structural factors (e.g., access to healthcare, socioeconomic position) that impact functional outcomes in this population to promote public health policies that can improve brain health across the lifespan.
57 Validation of a List Learning Task for Monolingual Spanish Speaking Older Adults
- Valentina E Diaz, Lucia Lopez, Gloria Aguirre, Karen A Dorsman, Anne-Marie Rodriguez, Jorge Archila Puac, Shannon Lee, Stefanie D Pina-Escudero, Serggio Lanata, Kaitlin Casaletto, Joel H Kramer
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- Journal:
- Journal of the International Neuropsychological Society / Volume 29 / Issue s1 / November 2023
- Published online by Cambridge University Press:
- 21 December 2023, pp. 734-735
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Objective:
The prevalence of dementia is higher among minoritized Hispanic/Latino populations in the U.S. Development of linguistically relevant and validated cognitive assessments are urgently needed to adequately address the care needs of this at-risk group. List learning tasks are widely used to evaluate verbal episodic memory and are consistently shown to be sensitive to memory deficits across various
neurologic etiologies. The aim of this study was to validate a Spanish list learning task developed as a linguistically appropriate measure of memory in a diverse sample of Spanish speaking Bay Area older adults who identify as Hispanic/Latino.
Participants and Methods:Cognitive scores were assessed in 72 Spanish-speaking older adults living in the Bay Area, California, originally from different countries across South and Central America [(n=29 with CDR scores of 0; n=31 with CDRs of 0.5; and n=12 with CDR of 1), aged 54-96, 30% male)], who completed the Spanish list learning task and a brief neuropsychological battery. The list learning task contains 9 words, 3 words from 3 different semantic categories. Category exemplars were excluded. Administration includes three immediate recall trials, a 30-second delay free recall, 10-minute delay free and cued recall, and yes/no recognition. In this initial validation study, we selected the 10-minute delay recall trial as our primary variable and looked at several indices of construct validity. We hypothesized delayed free recall would: 1) correlate highly with other episodic memory tasks, and minimally with non-memory tests (controlling for CDR sum of boxes), and 2) show step-wise declines as total CDR increased from 0 to 1 (controlling for age, sex, and education).
Results:Delayed recall scores of 30-seconds and 10-minutes showed step-wise declines as CDR scores increased (CDR 0 vs. 1, p<0.001 and CDR 0.5 vs. 1, p=0.001). There were no differences in delayed recall between CDR 0 vs. CDR 0.5 (p>0.05). 10-minute delay showed medium-to-large correlations with UDS Craft Story Delayed Recall (partial r =0.45, p<0.001) and Benson Complex Figure Recall (partial r=0.63, p<0.001). Nonsignificant, weaker associations were observed with measures of executive (F Word Verbal Fluency partial r=0.10, Digit Span Forward partial r=0.12), and language (Animal Fluency partial r=0.18) function.
Conclusions:Although there is heterogeneity within Hispanic/Latino populations in the U.S., findings begin to support ecological and construct validity of the Spanish list learning task as a measure of verbal memory in older Spanish-speaking adults in the Bay Area. Supporting ecological validity, delayed recall scores significantly differentiated functionally impaired (CDR=1) from functionally mild or unimpaired older adults (CDR=0 or 0.5), though evidenced less sensitivity differentiating unimpaired from mild stages of illness. The Spanish list learning task evidenced strong construct validity as a measure of episodic memory, including strong correlations with other validated memory tasks, and non-significant correlations with non-memory tasks. Larger studies should account for diversity of Spanish speakers in the U.S to see how region of origin, education, and differences between first- and second-generation Spanish speakers influences performance on the task. Future work incorporating imaging markers of brain structure may help further validate the Spanish list learning task as an appropriate measure of memory.