Critical region within 22q11.2 linked to higher rate of autism spectrum disorder
| Autor: | Alisa R. Zoltowski, Robert T. Schultz, Tara L. Wenger, Benjamin E. Yerys, Lauren Mitteer, Beverly S. Emanuel, John C. Carey, Ashley de Marchena, Jennifer R. Bertollo, Judith Miller, Elaine H. Zackai, Donna M. McDonald-McGinn, Caitlin C. Clements |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Pediatrics Neurology Chromosomes Human Pair 22 Syndromic autism urologic and male genital diseases lcsh:RC346-429 Cohort Studies 0302 clinical medicine Gene Duplication Nested Activities of Daily Living Autism spectrum disorder Child Social Communication Disorder Oligonucleotide Array Sequence Analysis Neuropsychology Nuclear Proteins Diagnostic classification female genital diseases and pregnancy complications Psychiatry and Mental health Exact test Child Preschool embryonic structures Screening Female Chromosome Deletion Psychology 22q11.2 duplication syndrome Adult Risk medicine.medical_specialty Adolescent Psychometrics Catechol O-Methyltransferase Young Adult 03 medical and health sciences Developmental Neuroscience Chart review Face processing medicine Humans Molecular Biology lcsh:Neurology. Diseases of the nervous system Research Infant Newborn Infant medicine.disease bacterial infections and mycoses Human genetics RANBP1 Prosopagnosia 030104 developmental biology 22q11.2 deletion syndrome human activities 030217 neurology & neurosurgery Atypical Developmental Biology |
| Zdroj: | Molecular Autism, Vol 8, Iss 1, Pp 1-17 (2017) Molecular Autism |
| ISSN: | 2040-2392 |
| DOI: | 10.1186/s13229-017-0171-7 |
| Popis: | Background Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. Methods We recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11.2, including LCR-A to B (n del = 11), LCR-A to C (n del = 4), LCR-B to D (n del = 14; n dup = 8), LCR-C to D (n del = 4; n dup = 2), and smaller nested regions (n = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher’s exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires. Results Individuals with deletions involving LCR-A to B showed a 39–44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies. Conclusions Children with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed. Electronic supplementary material The online version of this article (10.1186/s13229-017-0171-7) contains supplementary material, which is available to authorized users. |
| Databáze: | OpenAIRE |
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