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 approximately 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.
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 approximately 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.
Authors: S Hossein Fatemi; Kimberly A Aldinger; Paul Ashwood; Margaret L Bauman; Charles D Blaha; Gene J Blatt; Abha Chauhan; Ved Chauhan; Stephen R Dager; Price E Dickson; Annette M Estes; Dan Goldowitz; Detlef H Heck; Thomas L Kemper; Bryan H King; Loren A Martin; Kathleen J Millen; Guy Mittleman; Matthew W Mosconi; Antonio M Persico; John A Sweeney; Sara J Webb; John P Welsh Journal: Cerebellum Date: 2012-09 Impact factor: 3.847
Authors: S U Dhar; D del Gaudio; J R German; S U Peters; Z Ou; P I Bader; J S Berg; M Blazo; C W Brown; B H Graham; T A Grebe; S Lalani; M Irons; S Sparagana; M Williams; J A Phillips; A L Beaudet; P Stankiewicz; A Patel; S W Cheung; T Sahoo Journal: Am J Med Genet A Date: 2010-03 Impact factor: 2.802
Authors: Sara M Sarasua; Luigi Boccuto; Julia L Sharp; Alka Dwivedi; Chin-Fu Chen; Jonathan D Rollins; R Curtis Rogers; Katy Phelan; Barbara R DuPont Journal: Hum Genet Date: 2014-01-31 Impact factor: 4.132
Authors: Xiaoming Wang; Portia A McCoy; Ramona M Rodriguiz; Yanzhen Pan; H Shawn Je; Adam C Roberts; Caroline J Kim; Janet Berrios; Jennifer S Colvin; Danielle Bousquet-Moore; Isabel Lorenzo; Gangyi Wu; Richard J Weinberg; Michael D Ehlers; Benjamin D Philpot; Arthur L Beaudet; William C Wetsel; Yong-Hui Jiang Journal: Hum Mol Genet Date: 2011-05-10 Impact factor: 6.150
Authors: Kimberly A Aldinger; Jillene Kogan; Virginia Kimonis; Bridget Fernandez; Denise Horn; Eva Klopocki; Brian Chung; Annick Toutain; Rosanna Weksberg; Kathleen J Millen; A James Barkovich; William B Dobyns Journal: Am J Med Genet A Date: 2012-12-07 Impact factor: 2.802