Patient and Family Experiences and Opinions on Adding 22q11 Deletion Syndrome to the Newborn Screen

Abstract

22q11 deletion syndrome (22qDS) has recently been proposed for addition to the newborn screening panel in Wisconsin and it seems likely that it may soon be considered in other states as well. Input from patients with 22qDS and their family was gathered from 21 phone interviews. Cardiac, palate, hypocalcemia, and multiple anomalies were common reasons for involved patients to be diagnosed, though age at diagnosis ranged from birth to adulthood. Many commented on their struggles with 22qDS, including worries about the future and the patient's independence. In general, respondents favored newborn screening for 22qDS because it would help prevent some medical problems, increase access to services, explain existing problems, and identify mild cases. However, a minority expressed reservations, including concerns that it would disrupt bonding, could be too costly, and would not be useful for mild cases.

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

“…Thirteen studies revealed negative and positive emotions experienced amongst families, caregivers, and patients (Bales et al, 2010a; Briegel et al, 2008; Chan et al, 2015; Costain et al, 2012; Goodwin, Alam, et al, 2017; Goodwin & Mccormack, 2017; Goodwin, McCormack, et al, 2017; Hercher & Bruenner, 2008; Karas et al, 2014; Klingberg et al, 2010; Okashah et al, 2015; Phillips et al, 2017; Reilly et al, 2015). Three subthemes were identified: emotions experienced by parents and caregivers, emotional experiences faced by siblings, shared emotional experiences.…”

“…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.…”

“…The 14 included studies were conducted between 2008 and 2017 (Bales et al, 2010a; Briegel et al, 2008; Chan et al, 2015; Cohen, McCartney, & Crampin, 2017; Costain, Chow, Ray, & Bassett, 2012; Goodwin, Alam, et al, 2017; Goodwin & Mccormack, 2017; Goodwin, McCormack, et al, 2017; Hercher & Bruenner, 2008; Karas, Costain, Chow, & Bassett, 2014; Klingberg, Hallberg, & Óskarsdóttir, 2010; Martin et al, 2012; Okashah et al, 2015; Phillips, Goodwin, Johnson, & Campbell, 2017; Reilly et al, 2015), with the majority published between 2016 and 2017 ( n  = 5).…”

“…Six studies had mixed samples of parents, caregivers, siblings, patients, and professionals ( n  = 6) (Bales et al, 2010a; Cohen et al, 2017; Costain et al, 2012; Karas et al, 2014; Martin et al, 2012; Okashah et al, 2015). Six studies focused on experiences of parents and/or caregivers ( n  = 5) (Briegel et al, 2008; Goodwin & Mccormack, 2017; Goodwin, McCormack, et al, 2017; Hercher & Bruenner, 2008; Klingberg et al, 2010; Reilly et al, 2015), two studies focused exclusively on patients ( n  = 2) (Chan et al, 2015; Phillips et al, 2017), and one study focused on sibling (Goodwin, Alam, et al, 2017).…”

“…Its symptoms are complex and affecting multiple body systems, ranging from intellectual disability, psychiatric illness, cardiac abnormalities, immunodeficiencies to epilepsy (Bales, Zaleski, & McPherson, 2010a; Hallberg, Óskarsdóttir, & Klingberg, 2010). The challenges associated with these complex clinical presentations are likely to have a significant effect on the psychosocial well‐being of patients as well as their families.…”