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.
