Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Bassett, Anne S.; McDonald‐McGinn, Donna M.; Devriendt, Koenraad; Digilio, María Cristina; Goldenberg, Paula; Habel, Alex; Marino, Bruno; Óskarsdóttir, Sólveig; Philip, Nicole; Sullivan, Kathleen E.; Swillen, Ann; Vorstman, Jacob

doi:10.1016/j.jpeds.2011.02.039

Cited by 539 publications

(751 citation statements)

References 42 publications

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“…Patients are diagnosed with 22q11DS at different stages in their lives and early recognition can significantly change the medical management, follow‐up and genetic counseling, which are useful for the patient, family, and clinicians (Bassett et al, 2011; Kapadia & Bassett, 2008). Across the included studies, many parents reported feelings of powerlessness and frustration as a result of having to wait years for a diagnosis for their child (Bales et al, 2010a; Cohen et al, 2017; Costain et al, 2012), which resulted in increased uncertainty about the child's future (Bales et al, 2010a; Cohen et al, 2017; Costain et al, 2012; Goodwin & Mccormack, 2017; Goodwin, McCormack, et al, 2017; Karas et al, 2014; Martin et al, 2012).…”

Section: Resultsmentioning

confidence: 99%

“…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.…”

Section: Discussionmentioning

confidence: 99%

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

McNeill

Vogt

2018

American J of Med Genetics Pt A

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The 22q11 deletion syndrome (22q11DS) is one of the most common genomic disorders in humans, affecting around 1:2,000 to 1: 4,000 people. 22q11DS affects multiple body systems and is associated with multiple physical problems. Given the high rate of physical morbidity associated with the 22q11DS, it was hypothesized that it would exert a high psychosocial impact on patients and their relatives. To investigate this, a systematic review of the literature and narrative synthesis was performed. Three major themes emerged. First, the complex and conflicting emotions experienced by family members resulting from the diagnosis. Second, the pervasive educational and health‐care challenges associated with the diagnosis and third that people affect by 22q11DS strived for individualism. The results of this review help to inform clinical management of families with 22q11DS.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

McNeill

Vogt

2018

American J of Med Genetics Pt A

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“…The 22q11.2DS is the most common microdeletion syndrome and is characterized by broad phenotypic heterogeneity including multiple congenital anomalies, such as tetralogy of Fallot and cleft palate (Bassett et al, 2011; McDonald‐McGinn et al, 2015). Due to these conditions, often requiring urgent medical/surgical attention, possible orthopedic features tend to be overshadowed, as shown by the fact that there are no studies on the treatment of orthopedic manifestations within 22q11.2DS (Homans et al, 2017; Homans et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

“…However, this is just a small portion of all the associated anomalies within 22q11.2DS (Bassett et al, 2011; McDonald‐McGinn et al, 2015). Stone et al performed a long‐term study on the associated anomalies found in patients with presumed idiopathic club foot (Stone et al, 2017).…”

Section: Discussionmentioning

confidence: 99%

“…(McDonald‐McGinn et al, 2015) However, these are just a few of the large number of (congenital) clinical characteristics that can be part of the 22q11.2DS. (Bassett et al, 2011; McDonald‐McGinn et al, 2015) Recently, 69 orthopedic manifestations have been described as being part of the 22q11.2DS. One of these manifestations, (congenital) club foot, has attained little attention so far (Homans et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

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Club foot in association with the 22q11.2 deletion syndrome: An observational study

Homans

Crowley

Chen

et al. 2018

American J of Med Genetics Pt A

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The 22q11.2 Deletion Syndrome (22q11.2DS) occurs in ~1:3,000–6,000 individuals. Features less typically associated with 22q11.2DS, such as orthopedic manifestations, may be overlooked or may not lead to appropriate diagnostic testing. Club foot has a general population prevalence of ~1:1,000 and has been occasionally described in association with 22q11.2DS. Our hypothesis is that the prevalence of club foot is higher in patients with 22q11.2DS. We performed a retrospective review in two specialized 22q11.2DS centers to determine the prevalence of club foot. “True club foot” requires treatment (either conservative or surgical), therefore we only included those patients with proof of treatment. We investigated whether congenital heart disease (CHD) and/or cleft palate were associated with the presence of club foot within 22q11.2DS. The records of 1,466 patients were reviewed. Of these, 48 (3.3%) had confirmation of club foot (95% Confidence Interval: 2.4–4.3): 22 (46%) had a bilateral, 12 (25%) left, and 14 (29%) right club foot. Within our study, neither a CHD and/or a cleft palate were associated with a club foot. The prevalence of club foot in 22q11.2DS is 30 times higher than that observed in the general population. This suggests the diagnosis of club foot, especially in the face of other typically associated abnormalities of 22q11.2DS, should provoke consideration of 22q11.2DS as an underlying diagnosis, particularly in the neonatal setting.

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Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders

Martin

Ledbetter

2017

JAMA

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Children with neurodevelopmental disorders, including developmental delay, intellectual disability, autism spectrum disorder(ASD), or congenital anomalies may have genetic abnormalities that traditionally were detected using G-banded karyotype analysis. Karyotyping identifies clinically relevant genetic abnormalities in approximately 5% of children with these disorders. 1 However, Karyotyping has now been replaced by chromosomal microarray analysis (CMA), which detects unbalanced chromosomal rearrangements like G-banded karotyping but also detects smaller chromosome abnormalities, increasing the diagnostic yield to approximately 20% of patients. 1,2 Because of its greater sensitivity, CMA tests should now be considered by any clinician evaluating a child with otherwise unexplained developmental delay, intellectual disability, ASD, or congenital anomalies (Audio) (Figure).

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Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Abstract: [No abstract available

Cited by 539 publications

References 42 publications

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

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

Club foot in association with the 22q11.2 deletion syndrome: An observational study

Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders

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