Functional outcomes of adults with 22q11.2 deletion syndrome

Abstract

Purpose: The 22q11.2 deletion syndrome is a common multisystem genomic disorder with congenital and later-onset manifestations, including congenital heart disease, intellectual disability, and psychiatric illness, that may affect long-term functioning. There are limited data on adult functioning in 22q11.2 deletion syndrome. methods:We used the Vineland Adaptive Behavior Scales to assess functioning in 100 adults with 22q11.2 deletion syndrome (n = 46 male; mean age = 28.8 (standard deviation = 9.7) years) where intellect ranged from average to borderline (n = 57) to mild intellectual disability (n = 43).Results: More than 75% of the subjects scored in the functional deficit range. Although personal, vocational, and financial demographics confirmed widespread functional impairment, daily living skills and employment were relative strengths. Intelligence quotient was a significant predictor (P < 0.001) of overall and domainspecific adaptive functioning skills. A diagnosis of schizophrenia was a significant predictor (P < 0.05) of overall adaptive functioning, daily living skills, and socialization scores. Notably, congenital heart disease, history of mood/anxiety disorders, sex, and age were not significant predictors of functioning.conclusion: Despite functional impairment in adulthood that is primarily mediated by cognitive and psychiatric phenotypes, relative strengths in activities of daily living and employment have important implications for services and long-term planning. These results may help to inform expectations about outcomes for patients with 22q11.2 deletion syndrome. 2012:14(10):836-843 Genet Med

Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome

“…• Optimization of health conditions pre-conception • Reassessment of treatment plan, considering the potential for disease exacerbations from pregnancy, teratogenicity of medications, patient non-adherence, and negative maternal and fetal consequences of untreated morbidities (Negro and Mestman 2011;Seeman 2013;Thorne 2004) • Antenatal care, delivery, neonatal evaluation, and postpartum care in a high-risk obstetric center with an experienced multidisciplinary team Hatton et al 2012;Seeman 2013) • Appropriate screening during pregnancy, including early fetal echocardiogram to screen for congenital heart disease (Rasiah et al 2006) Social support • Awareness of potential sources of conflict between patient and partner/family (Finucane 2010;Karas et al 2014) • Tailoring of support based on the individual patient's needs and his/her existing supports (e.g., social work, child care resources, child protection services, financial resources) (Butcher et al 2012;Finucane 2010;Karas et al 2014) Sexual and reproductive health…”

“…provision of written information in addition to verbal discussion (Butcher et al 2012;Finucane 2010) …”

The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review

“…Yet, patient psychosocial perspectives were limited; limited findings highlighted patients’ desires to obtain independence, challenges to achieving individualism, and transitioning into adulthood. Reasons for this may include limitations in patients’ social functioning disproportionate to their capabilities in other aspects of daily living (Angkustsiri et al, 2012; Bassett et al, 2011; Butcher et al, 2012; Ho et al, 2012), difficulty maintaining social relationships (Abery & Fahnestock, 1994; May & Simpson, 2003), and having small social circles (Amando, 1993; Knox & Hickson, 2001). However, these patterns were not necessarily found for all 22q11DS patients included in this review: a number of female patients in (Phillips et al, 2017) express strong desires to marry and become good parents.…”

“…Six studies were qualitative in nature (Bales et al, 2010a; Goodwin, Alam, et al, 2017; Goodwin & Mccormack, 2017; Goodwin, McCormack, et al, 2017; Klingberg et al, 2010; Phillips et al, 2017), seven used mixed methods (Butcher et al, 2012; Chan et al, 2015; Cohen et al, 2017; Hercher & Bruenner, 2008; Karas et al, 2014; Martin et al, 2012; Okashah et al, 2015), and two exclusively quantitative papers were included (Briegel et al, 2008; Reilly et al, 2015). Qualitative methods used included interviews, surveys, and questionnaires.…”

Post‐transplant adaptive function in childhood cerebral adrenoleukodystrophy

“…Measures of adaptive functioning, such as the VABS, quantify key attributes of how a person interacts with their world and have demonstrated associations with life satisfaction in a variety of clinical populations 32, 33. Adaptive function is also an important correlate of academic achievement and employment/income independence 34, 35. Given this tangible significance for patients and families, adaptive functioning is of great importance to medical teams and caregivers facing difficult treatment‐related decisions.…”