Published online July 14, 2008
PEDIATRICS Vol. 122 No. 2 August 2008, pp. e376-e382 (doi:10.1542/peds.2007-2584)

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet Download to citation manager Request Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Philippe, A. Articles by Munnich, A. Search for Related Content PubMed PubMed Citation Articles by Philippe, A. Articles by Munnich, A. Related Collections Genetics & Dysmorphology Social Bookmarking                         What's this?

ARTICLE

Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood

Anne Philippe, MD, PhD^a, Nathalie Boddaert, MD, PhD^b, Laurence Vaivre-Douret, PhD^c,d, Laurence Robel, MD, PhD^c, Laurent Danon-Boileau, PhD^e, Valérie Malan, MD^a, Marie-Christine de Blois, MD^a, Delphine Heron, MD^f, Laurence Colleaux, PhD^a, Bernard Golse, MD^c, Monica Zilbovicius, MD, PhD^b and Arnold Munnich, MD, PhD^a

^a National Institute of Health and Medical Research and Department of Genetics, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France
^b National Institute of Health and Medical Research, Mixed Unit of Research 0205, Atomic Energy Commission, Orsay, France
^c National Institute of Health and Medical Research and Department of Psychiatry, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France
^d Paris 11 University, Paris 5 University, Mixed Unit of Research-S0669, Paris 10 University, Nanterre and Department of Obstetrics and Gynaecology, Assistance Publique-Hôpitaux de Paris, Paris, France
^e National Center for Scientific Research, Mixed Unit of Research 7114, Paris, France
^f Department of Genetics, Pitié Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France

OBJECTIVE. The 22q13.3 deletion syndrome (Online Mendelian Inheritance in Man No. 606232) is a neurodevelopmental disorder that includes hypotonia, severely impaired development of speech and language, autistic-like behavior, and minor dysmorphic features. Although the number of reported cases is increasing, the 22q13.3 deletion remains underdiagnosed because of failure in recognizing the clinical phenotype and detecting the 22qter deletion by routine chromosome analyses. Our goal is to contribute to the description of the neurobehavioral phenotype and brain abnormalities of this microdeletional syndrome.

METHODS. We assessed neuromotor, sensory, language, communication, and social development and performed cerebral MRI and study of regional cerebral blood flow measured by positron emission tomography in 8 children carrying the 22q13.3 deletion.

RESULTS. Despite variability in expression and severity, the children shared a common developmental profile characterized by hypotonia, sleep disorders, and poor response to their environment in early infancy; expressive language deficit contrasting with emergence of social reciprocity from ages 3 to 5 years; sensory processing dysfunction; and neuromotor disorders. Brain MRI findings were normal or showed a thin or morphologically atypical corpus callosum. Positron emission tomography study detected a localized dysfunction of the left temporal polar lobe and amygdala hypoperfusion.

CONCLUSIONS. The developmental course of the 22q13.3 deletion syndrome belongs to pervasive developmental disorders but is distinct from autism. An improved description of the natural history of this syndrome should help in recognizing this largely underdiagnosed condition.

---

Key Words: 22q13.3 deletion • pervasive developmental disorders • autism • regression • language deficit • neuromotor disturbances • sensory abnormalities • thin corpus callosum

Abbreviations: ADI-R—Autism Diagnostic Interview-Revised • DSM-IV—Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition • rCBF—cerebral blood flow • PET—positron emission tomography

---

Accepted Mar 11, 2008.

CiteULike    Connotea    Del.icio.us    Digg    Facebook    Reddit    Technorati    Twitter    What's this?