Tetrasomy 18p: Report of cognitive and behavioral characteristics

Our purpose was to describe intellectual and behavioral characteristics of persons with tetrasomy 18p. This is a more detailed investigation into the cognitive and behavioral characteristics of our previously reported tetrasomy 18p cohort of 43 plus six additional participants. We evaluated the inte...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2015-07, Vol.167A (7), p.1474-1482
Main Authors: O'Donnell, Louise, Soileau, Bridgette T., Sebold, Courtney, Gelfond, Jonathan, Hale, Daniel E., Cody, Jannine D.
Format: Article
Language:English
Subjects:
Adaptation, Psychological - physiology
Adolescent
Aneuploidy
Child
Child, Preschool
chromosome 18
chromosome abnormality
Chromosomes, Human, Pair 18 - genetics
Chromosomes, Human, Pair 18 - physiology
Cognition Disorders - physiopathology
Comparative Genomic Hybridization
Executive Function - physiology
Female
Humans
Infant
isochromosome 18p
Longitudinal Studies
Male
Phenotype
Surveys and Questionnaires
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by cdi_FETCH-LOGICAL-c5056-be8cb4788db24724fb53c37c8c7d8900e2a97cac95ccd60a945044e42c945b643
cites cdi_FETCH-LOGICAL-c5056-be8cb4788db24724fb53c37c8c7d8900e2a97cac95ccd60a945044e42c945b643
container_end_page 1482
container_issue 7
container_start_page 1474
container_title American journal of medical genetics. Part A
container_volume 167A
creator O'Donnell, Louise
Soileau, Bridgette T.
Sebold, Courtney
Gelfond, Jonathan
Hale, Daniel E.
Cody, Jannine D.
description Our purpose was to describe intellectual and behavioral characteristics of persons with tetrasomy 18p. This is a more detailed investigation into the cognitive and behavioral characteristics of our previously reported tetrasomy 18p cohort of 43 plus six additional participants. We evaluated the intellectual functioning using standard measures of cognitive ability, measures of executive functioning, adaptive and maladaptive behaviors. Intellectual abilities ranged from mild impairment/borderline normal to severe/profound impairment calling into question the assumption that severe cognitive limitation is always a feature of tetrasomy 18p. For persons with tetrasomy 18p with mild cognitive deficits, the main barriers to successful functioning stems from limited social and metacognitive skill development and behavior regulation problems rather than being solely determined by cognitive deficits alone. © 2015 Wiley Periodicals, Inc.
doi_str_mv 10.1002/ajmg.a.37036
format article
fullrecord <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1701502799</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1701502799</sourcerecordid><originalsourceid>FETCH-LOGICAL-c5056-be8cb4788db24724fb53c37c8c7d8900e2a97cac95ccd60a945044e42c945b643</originalsourceid><addsrcrecordid>eNqF0U1PGzEQBmCrKioUeusZrcSFA5uOv21uAdoA4kOitD1aXq8DG3bjYG8o-fcYAjn0QE-ewzOvxjMIfcUwwADkm510NwM7oBKo-IA2MOekZIrSj6ua8HX0OaUJAAUuxSe0TrgG0IA30PDa99Gm0C0KrGb7xZWfhdgXYVy4cDNt-ubBF3ZaF5W_tQ9NiLYt3K2N1vU-NqlvXNpCa2PbJv_l9d1Ev358vz48Ls8uRyeHw7PSceCirLxyFZNK1RVhkrBxxamj0ikna5Wn8cRq6azT3LlagNWMA2OeEZerSjC6iXaXubMY7uc-9aZrkvNta6c-zJPBEjAHIrX-PxUaBAdKeaY7_9BJmMdp_khWSufBmBJZ7S2ViyGl6MdmFpvOxoXBYJ6vYJ6vYKx5uULm26-h86rz9Qq_rT0DtgR_m9Yv3g0zw9Pz0fAtt1y25c37x1WbjXdGSCq5-XMxMge_z_FPMToynD4BhZmgYA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1689900486</pqid></control><display><type>article</type><title>Tetrasomy 18p: Report of cognitive and behavioral characteristics</title><source>Wiley-Blackwell Read &amp; Publish Collection</source><creator>O'Donnell, Louise ; Soileau, Bridgette T. ; Sebold, Courtney ; Gelfond, Jonathan ; Hale, Daniel E. ; Cody, Jannine D.</creator><creatorcontrib>O'Donnell, Louise ; Soileau, Bridgette T. ; Sebold, Courtney ; Gelfond, Jonathan ; Hale, Daniel E. ; Cody, Jannine D.</creatorcontrib><description>Our purpose was to describe intellectual and behavioral characteristics of persons with tetrasomy 18p. This is a more detailed investigation into the cognitive and behavioral characteristics of our previously reported tetrasomy 18p cohort of 43 plus six additional participants. We evaluated the intellectual functioning using standard measures of cognitive ability, measures of executive functioning, adaptive and maladaptive behaviors. Intellectual abilities ranged from mild impairment/borderline normal to severe/profound impairment calling into question the assumption that severe cognitive limitation is always a feature of tetrasomy 18p. For persons with tetrasomy 18p with mild cognitive deficits, the main barriers to successful functioning stems from limited social and metacognitive skill development and behavior regulation problems rather than being solely determined by cognitive deficits alone. © 2015 Wiley Periodicals, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.37036</identifier><identifier>PMID: 25900901</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Adaptation, Psychological - physiology ; Adolescent ; Aneuploidy ; Child ; Child, Preschool ; chromosome 18 ; chromosome abnormality ; Chromosomes, Human, Pair 18 - genetics ; Chromosomes, Human, Pair 18 - physiology ; Cognition Disorders - physiopathology ; Comparative Genomic Hybridization ; Executive Function - physiology ; Female ; Humans ; Infant ; isochromosome 18p ; Longitudinal Studies ; Male ; Phenotype ; Surveys and Questionnaires ; Young Adult</subject><ispartof>American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1474-1482</ispartof><rights>2015 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5056-be8cb4788db24724fb53c37c8c7d8900e2a97cac95ccd60a945044e42c945b643</citedby><cites>FETCH-LOGICAL-c5056-be8cb4788db24724fb53c37c8c7d8900e2a97cac95ccd60a945044e42c945b643</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25900901$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>O'Donnell, Louise</creatorcontrib><creatorcontrib>Soileau, Bridgette T.</creatorcontrib><creatorcontrib>Sebold, Courtney</creatorcontrib><creatorcontrib>Gelfond, Jonathan</creatorcontrib><creatorcontrib>Hale, Daniel E.</creatorcontrib><creatorcontrib>Cody, Jannine D.</creatorcontrib><title>Tetrasomy 18p: Report of cognitive and behavioral characteristics</title><title>American journal of medical genetics. Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>Our purpose was to describe intellectual and behavioral characteristics of persons with tetrasomy 18p. This is a more detailed investigation into the cognitive and behavioral characteristics of our previously reported tetrasomy 18p cohort of 43 plus six additional participants. We evaluated the intellectual functioning using standard measures of cognitive ability, measures of executive functioning, adaptive and maladaptive behaviors. Intellectual abilities ranged from mild impairment/borderline normal to severe/profound impairment calling into question the assumption that severe cognitive limitation is always a feature of tetrasomy 18p. For persons with tetrasomy 18p with mild cognitive deficits, the main barriers to successful functioning stems from limited social and metacognitive skill development and behavior regulation problems rather than being solely determined by cognitive deficits alone. © 2015 Wiley Periodicals, Inc.</description><subject>Adaptation, Psychological - physiology</subject><subject>Adolescent</subject><subject>Aneuploidy</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>chromosome 18</subject><subject>chromosome abnormality</subject><subject>Chromosomes, Human, Pair 18 - genetics</subject><subject>Chromosomes, Human, Pair 18 - physiology</subject><subject>Cognition Disorders - physiopathology</subject><subject>Comparative Genomic Hybridization</subject><subject>Executive Function - physiology</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>isochromosome 18p</subject><subject>Longitudinal Studies</subject><subject>Male</subject><subject>Phenotype</subject><subject>Surveys and Questionnaires</subject><subject>Young Adult</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><recordid>eNqF0U1PGzEQBmCrKioUeusZrcSFA5uOv21uAdoA4kOitD1aXq8DG3bjYG8o-fcYAjn0QE-ewzOvxjMIfcUwwADkm510NwM7oBKo-IA2MOekZIrSj6ua8HX0OaUJAAUuxSe0TrgG0IA30PDa99Gm0C0KrGb7xZWfhdgXYVy4cDNt-ubBF3ZaF5W_tQ9NiLYt3K2N1vU-NqlvXNpCa2PbJv_l9d1Ev358vz48Ls8uRyeHw7PSceCirLxyFZNK1RVhkrBxxamj0ikna5Wn8cRq6azT3LlagNWMA2OeEZerSjC6iXaXubMY7uc-9aZrkvNta6c-zJPBEjAHIrX-PxUaBAdKeaY7_9BJmMdp_khWSufBmBJZ7S2ViyGl6MdmFpvOxoXBYJ6vYJ6vYKx5uULm26-h86rz9Qq_rT0DtgR_m9Yv3g0zw9Pz0fAtt1y25c37x1WbjXdGSCq5-XMxMge_z_FPMToynD4BhZmgYA</recordid><startdate>201507</startdate><enddate>201507</enddate><creator>O'Donnell, Louise</creator><creator>Soileau, Bridgette T.</creator><creator>Sebold, Courtney</creator><creator>Gelfond, Jonathan</creator><creator>Hale, Daniel E.</creator><creator>Cody, Jannine D.</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201507</creationdate><title>Tetrasomy 18p: Report of cognitive and behavioral characteristics</title><author>O'Donnell, Louise ; Soileau, Bridgette T. ; Sebold, Courtney ; Gelfond, Jonathan ; Hale, Daniel E. ; Cody, Jannine D.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5056-be8cb4788db24724fb53c37c8c7d8900e2a97cac95ccd60a945044e42c945b643</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Adaptation, Psychological - physiology</topic><topic>Adolescent</topic><topic>Aneuploidy</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>chromosome 18</topic><topic>chromosome abnormality</topic><topic>Chromosomes, Human, Pair 18 - genetics</topic><topic>Chromosomes, Human, Pair 18 - physiology</topic><topic>Cognition Disorders - physiopathology</topic><topic>Comparative Genomic Hybridization</topic><topic>Executive Function - physiology</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>isochromosome 18p</topic><topic>Longitudinal Studies</topic><topic>Male</topic><topic>Phenotype</topic><topic>Surveys and Questionnaires</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>O'Donnell, Louise</creatorcontrib><creatorcontrib>Soileau, Bridgette T.</creatorcontrib><creatorcontrib>Sebold, Courtney</creatorcontrib><creatorcontrib>Gelfond, Jonathan</creatorcontrib><creatorcontrib>Hale, Daniel E.</creatorcontrib><creatorcontrib>Cody, Jannine D.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium &amp; Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>O'Donnell, Louise</au><au>Soileau, Bridgette T.</au><au>Sebold, Courtney</au><au>Gelfond, Jonathan</au><au>Hale, Daniel E.</au><au>Cody, Jannine D.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Tetrasomy 18p: Report of cognitive and behavioral characteristics</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2015-07</date><risdate>2015</risdate><volume>167A</volume><issue>7</issue><spage>1474</spage><epage>1482</epage><pages>1474-1482</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>Our purpose was to describe intellectual and behavioral characteristics of persons with tetrasomy 18p. This is a more detailed investigation into the cognitive and behavioral characteristics of our previously reported tetrasomy 18p cohort of 43 plus six additional participants. We evaluated the intellectual functioning using standard measures of cognitive ability, measures of executive functioning, adaptive and maladaptive behaviors. Intellectual abilities ranged from mild impairment/borderline normal to severe/profound impairment calling into question the assumption that severe cognitive limitation is always a feature of tetrasomy 18p. For persons with tetrasomy 18p with mild cognitive deficits, the main barriers to successful functioning stems from limited social and metacognitive skill development and behavior regulation problems rather than being solely determined by cognitive deficits alone. © 2015 Wiley Periodicals, Inc.</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>25900901</pmid><doi>10.1002/ajmg.a.37036</doi><tpages>9</tpages></addata></record>
fulltext fulltext
identifier ISSN: 1552-4825
ispartof American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1474-1482
issn 1552-4825
1552-4833
language eng
recordid cdi_proquest_miscellaneous_1701502799
source Wiley-Blackwell Read & Publish Collection
subjects Adaptation, Psychological - physiology
Adolescent
Aneuploidy
Child
Child, Preschool
chromosome 18
chromosome abnormality
Chromosomes, Human, Pair 18 - genetics
Chromosomes, Human, Pair 18 - physiology
Cognition Disorders - physiopathology
Comparative Genomic Hybridization
Executive Function - physiology
Female
Humans
Infant
isochromosome 18p
Longitudinal Studies
Male
Phenotype
Surveys and Questionnaires
Young Adult
title Tetrasomy 18p: Report of cognitive and behavioral characteristics
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-25T06%3A57%3A49IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Tetrasomy%2018p:%20Report%20of%20cognitive%20and%20behavioral%20characteristics&rft.jtitle=American%20journal%20of%20medical%20genetics.%20Part%20A&rft.au=O'Donnell,%20Louise&rft.date=2015-07&rft.volume=167A&rft.issue=7&rft.spage=1474&rft.epage=1482&rft.pages=1474-1482&rft.issn=1552-4825&rft.eissn=1552-4833&rft_id=info:doi/10.1002/ajmg.a.37036&rft_dat=%3Cproquest_cross%3E1701502799%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c5056-be8cb4788db24724fb53c37c8c7d8900e2a97cac95ccd60a945044e42c945b643%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=1689900486&rft_id=info:pmid/25900901&rfr_iscdi=true