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Sleep in Children with Neurodevelopmental Disabilities pp 241–252Cite as

22q11.2 Deletion Syndrome

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Abstract

The term 22q11.2 deletion syndrome (22q11DS) includes several clinical syndromes, most notably DiGeorge syndrome and velocardiofacial syndrome (VCFS), whose phenotypes reflect the breadth of phenotype and severity of this syndrome. Cardinal abnormalities include conotruncal heart defects, thymus hypoplasia or aplasia causing cellular immunodeficiency, parathyroid insufficiency with hypocalcemia, and palate defects or velopharyngeal insufficiency. Patients with 22q11DS can have congenital defects and comorbidities in virtually any body system, many of which interfere with sleep.

There are recent studies reporting high levels of sleep-disordered breathing and obstructive sleep apnea in this population, possibly up to 55%, in comparison to the general population prevalence of 1–2% among children. Growing pains out of proportion to those described among children in the general population are reported by parents but have not yet been studied. Physicians caring for patients with 22q11DS should have a low threshold for polysomnographic evaluation with this population, including consideration for irritability and behavioral disturbance in children.

Sleep is the golden chain that ties health and our bodies together—Thomas Dekker

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Notes

  1. 1.

    Online Mendelian Inheritance in Man, http://www.omim.org

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  1. Medical Genetics, Massachusetts General Hospital, Boston, MA, USA

    Paula Goldenberg

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  1. Paula Goldenberg
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Correspondence to Paula Goldenberg .

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  1. Departments of Pediatrics and Neurology, Virginia Commonwealth University School of Medicine, Richmond, VA, USA

    Jennifer A. Accardo

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Goldenberg, P. (2019). 22q11.2 Deletion Syndrome. In: Accardo, J. (eds) Sleep in Children with Neurodevelopmental Disabilities. Springer, Cham. https://doi.org/10.1007/978-3-319-98414-8_21

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  • DOI: https://doi.org/10.1007/978-3-319-98414-8_21

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  • Online ISBN: 978-3-319-98414-8

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