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

Philippe, Anne; Boddaert, Nathalie; Vaivre‐Douret, Laurence; Robel, Laurence; Danon‐Boileau, Laurent; Malan, Valérie; Blois, Marie‐Christine de; Héron, Delphine; Colleaux, Laurence; Golse, Bernard; Zilbovicius, Mônica; Münnich, Arnold

doi:10.1542/peds.2007-2584

Cited by 102 publications

(108 citation statements)

References 29 publications

(46 reference statements)

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“…The traditional approach would ignore the difference in frequency and identify 22q13.33 as being the only candidate region. In previous works on PMS, there was a general impression that patients with larger deletions were more seriously affected, but genotype-phenotype studies were hampered by small sample size, low resolution genotyping, or reliance on statistical measures of linear association (correlation coefficients, linear regression), 4,8,9,23,24 whereas the present study overcomes these limitations.…”

Section: Discussionmentioning

confidence: 84%

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome

Sarasua

Dwivedi

Boccuto

et al. 2014

Genetics in Medicine

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Section: Discussionmentioning

confidence: 84%

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome

Sarasua

Dwivedi

Boccuto

et al. 2014

Genetics in Medicine

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“…Although some genomic disorders have been associated with a specific neurobehavioral profile, [43][44][45] and the relative contribution that other CNVs, such as 16p11.2 microdeletions and microduplications, to ASD is being described, 11,14,16,46,47 the roles, if any, that most CNVs play in ASD etiology have not been defined. Some of these CNVs are implicated in disease, even when inherited from a normal parent, 24,30 a paradigmatic shift from traditional cytogenetic orthodoxy.…”

Section: Discussionmentioning

confidence: 99%

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

Rosenfeld

Ballif

Torchia

et al. 2010

Genetics in Medicine

120

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Purpose: Autism spectrum disorders represent a range of neurodevelopmental disorders that have been shown to have a strong genetic etiological component. Microarray-based comparative genomic hybridization and other molecular cytogenetic techniques are discovering an increasing number of copy number variations in individuals with autism spectrum disorder. Methods: We examined the yield of abnormal microarray-based comparative genomic hybridization findings in our laboratory for individuals referred for testing for autism spectrum disorder. We also examined the presence of autistic features among 151 additional individuals who were referred for microarray-based comparative genomic hybridization testing for indications other than autism spectrum disorder but had genomic alterations overlapping those found in cases referred for autism spectrum disorder. Results: We identified 1461 individuals referred for testing for autism spectrum disorder, with likely significant abnormalities reported in approximately 11.6% of individuals analyzed with whole-genome arrays. These abnormalities include alterations that encompass novel candidate genes such as SNTG2, SOX5, HFE, and TRIP38. A minority of individuals with overlapping abnormalities (19%) had autistic features, and many of the copy number variations identified in our study are inherited (69% among those found in individuals with autism spectrum disorder). Conclusions: Our results suggest these copy number variations are one of multiple factors contributing to the development of an autism spectrum disorder phenotype. Additionally, the broad phenotypic spectrum of the patients with these copy number variations suggests that these copy number variations are not autism spectrum disorder-specific but likely more generally impair neurodevelopment. Genet Med 2010:12(11):694 -702. Key Words: autism, ASD, microarray, CNV, neurodevelopmentA utism spectrum disorders (ASDs, OMIM 209850) describe a range of behaviors that involve varying degrees of impaired language development, socialization, and interests. Individuals with autism, or autistic disorder, at the severe end of the spectrum, have findings before 3 years of age in three categories: impaired reciprocal social interaction, impaired communication, and restricted, repetitive, or stereotyped behaviors. Individuals with Asperger syndrome have all characteristic impairments except for language deficits, manifesting before 3 years of age. For those with impairments in only two of the three categories or impairments manifesting after 3 years of age, a diagnosis of pervasive developmental delay (PDD) not otherwise specified is given. 1 ASD is estimated to have an incidence of approximately 0.6% in the general population, although a recent study suggests the prevalence of ASD may be increasing, nearing 1%. 2,3 ASD occurs more commonly in males, with a recent study demonstrating a 4.5:1 male-to-female ratio. 2,3 The genetics of ASD are heterogeneous and not fully understood. Only 10 -20% of individuals with ASD have a known etiolog...

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“…Most patients with PMS have limited means of communication and cannot follow more than simple commands. Some reports have also described a regression in motor, language, and behavioral skills in the context of seizure onset or exacerbation and structural brain abnormalities [10,11,50,[55][56][57].…”

Section: Medical Featuresmentioning

confidence: 99%

“…The reported prevalence of seizures in PMS ranges up to approximately 40 % [10,26,45,46,52,54,56,[58][59][60][61], but most case series are retrospective relying on parent report or medical record review instead of prospective analysis of electroencephalographic results. Brain magnetic resonance imaging is typically recommended because structural brain abnormalities have been reported in approximately 75 % of patients described in the literature [10,26,45,55,62]. Nonspecific white matter changes, including delayed myelination and generalized white matter atrophy, are the most common Fig.…”

Section: Medical Featuresmentioning

confidence: 99%

Phelan–McDermid Syndrome and SHANK3: Implications for Treatment

Costales

Kolevzon

2015

Neurotherapeutics

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

Abstract: 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.

Cited by 102 publications

References 29 publications

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

Phelan–McDermid Syndrome and SHANK3: Implications for Treatment

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