Velo‐cardio‐facial syndrome: A review of 120 patients

Goldberg, Rosalie; Motzkin, Beth; Marion, Robert W.; Scambler, Peter J.; Shprintzen, Robert J.

doi:10.1002/ajmg.1320450307

Cited by 381 publications

(259 citation statements)

References 30 publications

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“…12 It reports now on 112 preschool children which triples the study population of the previous reports. The consistency of these findings with the earlier accounts by Gerdes et al, 12 Shprintzen et al, 13,14 Swillen et al, 15 and Goldberg et al 16 affirms that the early descriptions of this population were accurate. There is a wide range of expression of developmental and behavioral findings.…”

Section: Discussionsupporting

confidence: 82%

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

Gerdes

Solot

Wang

et al. 2001

Genetics in Medicine

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Purpose: The purpose of this study is to review the neurodevelopmental outcome of infants and preschoolers with a 22q11.2 microdeletion and to discuss the our clinical observations of clinical implications for educational and therapeutic interventions. Methods: One hundred twelve children (4 to 70 mos) with the 22q11.2 deletion were assessed using standardized tests (Bayley Scales of Infant Development-II, Preschool Language Scales, WechslerPreschool and Primary Scales of Intelligence-Revised). Results: Fifty-four percent of the children were significantly delayed, 24% had mild delay, 22% had average cognitive development, and 80% were below average in language development. Delays are not explained by cardiac defects or palatal defects. Conclusion: Developmental delays, mild hypotonia, language and speech delays, and feeding disorders are common, and this finding indicates the need for early intervention services beginning in infancy for children with the 22q11.2 deletion. Genetics in Medicine, 2001:3(1):40 -44.

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Section: Discussionsupporting

confidence: 82%

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

Gerdes

Solot

Wang

et al. 2001

Genetics in Medicine

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“…Previously, treatment would be discontinued by 1 year of age with no subsequent monitoring. However, a high prevalence (~60 %) and serious associated symptoms of hypocalcemia in adolescents and adults (Bassett et al 2005;Goldberg et al 1993;Sykes et al 1997) have lead to recommendations for continued surveillance of calcium levels, especially during times of biological stress such as surgeries, and for ongoing treatment after initial diagnosis ).…”

Section: Discussionmentioning

confidence: 99%

22q11.2 Deletion Syndrome: Attitudes towards Disclosing the Risk of Psychiatric Illness

Martin

Mikhaelian²,

Cytrynbaum

et al. 2012

Journal of Genetic Counseling

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Abstract22q11.2 Deletion Syndrome (22q11.2DS) is a common microdeletion syndrome with multisystem features. There is a strong association with psychiatric disorders. One in every four to five patients develop schizophrenia. Despite studies showing that early diagnosis and treatment are likely to lead to improved outcome, genetic counselors may be reluctant to discuss the risk of psychiatric illness. The aim of this research was to explore parental attitudes and genetic counselors' perspectives and practice regarding disclosure of the clinical manifestations of 22q11.2DS, particularly the risk of psychiatric illness. We delivered a questionnaire to genetic counselors via established list-serves, 54 of which were completed. We also conducted interviews with four parents of adults with 22q11.2DS and schizophrenia. The majority of counselors and parents felt that the increased risk to develop a psychiatric illness is important to disclose. However, in the CIHR Author Manuscript CIHR Author Manuscript CIHR Author Manuscriptinitial counseling session when the diagnosis was made in infancy genetic counselors were significantly less likely to discuss the risk of psychiatric disorders compared to other later onset features such as hypothyroidism (41 % vs. 83 %, p=0.001). When the diagnosis of 22q11.2DS was made in infancy, counselors' responses in regard to timing of disclosure about psychiatric illnesses were fairly evenly divided between infancy, childhood and adolescence. In contrast, for other major features of 22q11.2DS, disclosure would predominantly be in infancy. The respondents reported that the discussion of psychiatric issues with parents was challenging due to the stigma associated with mental illness. Some also noted limited knowledge about psychiatric illness and treatment. These results suggest that genetic counselors could benefit from further education regarding psychiatric illness in 22q11.2DS and best strategies for discussing this important subject with parents and patients.

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“…DiGeorge Syndrome, alternatively called 22q‐deletion syndrome (22q11DS) or Velo‐facial syndrome, is a rare genetic deletion syndrome, caused by hemizygous deletion of the q11.2 part of chromosome 22 (Goldberg, Motzkin, Marion, Scambler, & Shprintzen, 1993; Swillen, Vogels, Devriendt, & Fryns, 2000). It is thought to be the most common microdeletion syndrome in man (Shprintzen, 2008), and is estimated to occur in 1 in 4,000 live births (Botto et al, 2003; Devriendt, Mortier, Van Thienen, Keymeulen, & Fryns, 1999; Oskarsdottir, 2004)…”

Section: Introductionmentioning

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 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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Velo‐cardio‐facial syndrome: A review of 120 patients

Cited by 381 publications

References 30 publications

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

22q11.2 Deletion Syndrome: Attitudes towards Disclosing the Risk of Psychiatric Illness

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

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