Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

Fine, Sarah E.; Weissman, Alison; Gerdes, Marsha; Pinto‐Martin, Jennifer; Zackai, Elaine H.; McDonald‐McGinn, Donna M.; Emanuel, Beverly S.

doi:10.1007/s10803-005-5036-9

Cited by 195 publications

(152 citation statements)

References 47 publications

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“…313 This technology can detect a wide variety of abnormalities, including some such as 22q13.3 deletion, that have been reported in a subset of children with ASDs. 314,315 Several studies that examined the yield of subtelomere FISH screening in ASD failed to detect a single abnormality, which suggests that it may not be helpful in the routine evaluation of these patients. 89,305 However, additional studies are needed.…”

Section: Comprehensive Evaluation (See Step 82a)mentioning

confidence: 99%

Identification and Evaluation of Children With Autism Spectrum Disorders

Johnson

Myers²

2007

Pediatrics

1,677

1,038

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Autism spectrum disorders are not rare; many primary care pediatricians care for several children with autism spectrum disorders. Pediatricians play an important role in early recognition of autism spectrum disorders, because they usually are the first point of contact for parents. Parents are now much more aware of the early signs of autism spectrum disorders because of frequent coverage in the media; if their child demonstrates any of the published signs, they will most likely raise their concerns to their child's pediatrician. It is important that pediatricians be able to recognize the signs and symptoms of autism spectrum disorders and have a strategy for assessing them systematically. Pediatricians also must be aware of local resources that can assist in making a definitive diagnosis of, and in managing, autism spectrum disorders. The pediatrician must be familiar with developmental, educational, and community resources as well as medical subspecialty clinics. This clinical report is 1 of 2 documents that replace the original American Academy of Pediatrics policy statement and technical report published in 2001. This report addresses background information, including definition, history, epidemiology, diagnostic criteria, early signs, neuropathologic aspects, and etiologic possibilities in autism spectrum disorders. In addition, this report provides an algorithm to help the pediatrician develop a strategy for early identification of children with autism spectrum disorders. The accompanying clinical report addresses the management of children with autism spectrum disorders and follows this report on page 1162 [available at www.pediatrics.org/cgi/content/full/120/5/1162]. Both clinical reports are complemented by the toolkit titled “Autism: Caring for Children With Autism Spectrum Disorders: A Resource Toolkit for Clinicians,” which contains screening and surveillance tools, practical forms, tables, and parent handouts to assist the pediatrician in the identification, evaluation, and management of autism spectrum disorders in children.

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Section: Comprehensive Evaluation (See Step 82a)mentioning

confidence: 99%

Identification and Evaluation of Children With Autism Spectrum Disorders

Johnson

Myers²

2007

Pediatrics

1,677

1,038

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“…With regard to the syndromes associated with a microdeletion of chromosome 22q11.2 (e.g., velocardiofacial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome), autistic features and AD have been described in these syndromes. 43 However, in a sample of 103 subjects with a strict diagnosis of autism, no single subject with a deletion of 22q11.2 has been found. 44 Recently, a deletion on chromosome 22q13.3 has been suspected as cause of AD.…”

Section: Cytogenetic Findings and Genetic Syndromes In Admentioning

confidence: 99%

The genetics of autistic disorders and its clinical relevance: a review of the literature

2006

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Twin and family studies in autistic disorders (AD) have elucidated a high heritability of the narrow and broad phenotype of AD. In this review on the genetics of AD, we will initially delineate the phenotype of AD and discuss aspects of differential diagnosis, which are particularly relevant with regard to the genetics of autism. Cytogenetic and molecular genetic studies will be presented in detail, and the possibly involved aetiopathological pathways will be described. Implications of the different genetic findings for genetic counselling will be mentioned.

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“…The microdeletion at chromosome 22q11.2 that gives rise to 22q11.2DS is one of the most significant genetic risks for cortical circuit disorders (11)(12)(13). Postmortem studies of the cerebral cortex from 22q11.2DS patients implicate abnormal neuronal migration (14); imaging demonstrates related cortical anomalies including polymicrogyria and region-selective gray matter thinning (15,16); and magnetic resonance spectroscopic studies show reduced GABA function (17).…”

mentioning

confidence: 99%

Cxcr4 regulation of interneuron migration is disrupted in 22q11.2 deletion syndrome

Meechan

Tucker

Maynard

et al. 2012

Proc. Natl. Acad. Sci. U.S.A.

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Interneurons are thought to be a primary pathogenic target for several behavioral disorders that arise during development, including schizophrenia and autism. It is not known, however, whether genetic lesions associated with these diseases disrupt established molecular mechanisms of interneuron development. We found that diminished 22q11.2 gene dosage-the primary genetic lesion in 22q11.2 deletion syndrome (22q11.2 DS)-specifically compromises the distribution of early-generated parvalbumin-expressing interneurons in the Large Deletion (LgDel) 22q11.2DS mouse model. This change reflects cellautonomous disruption of interneuron migration caused by altered expression of the cytokine C-X-C chemokine receptor type 4 (Cxcr4), an established regulator of this process. Cxcr4 is specifically reduced in LgDel migrating interneurons, and genetic analysis confirms that diminished Cxcr4 alters interneuron migration in LgDel mice. Thus, diminished 22q11.2 gene dosage disrupts cortical circuit development by modifying a critical molecular signaling pathway via Cxcr4 that regulates cortical interneuron migration and placement.

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Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

Cited by 195 publications

References 47 publications

Identification and Evaluation of Children With Autism Spectrum Disorders

Identification and Evaluation of Children With Autism Spectrum Disorders

The genetics of autistic disorders and its clinical relevance: a review of the literature

Cxcr4 regulation of interneuron migration is disrupted in 22q11.2 deletion syndrome

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