SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study
To comprehensively investigate the neurodevelopmental profile and clinical characteristics associated with SETBP1 haploinsufficiency disorder (SETBP1‐HD) and SETBP1‐related disorders (SETBP1‐RD). We reported genetic results on 34 individuals, with behavior and clinical data from 22 with SETBP1‐HD an...
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| Veröffentlicht in: | Clinical genetics 2024-10, Vol.106 (4), p.448-461 |
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| creator | Oyler, Haley O. Hudac, Caitlin M. Chung, Wendy K. Green Synder, LeeAnne Robertson, Stephanie Srivastava, Siddharth Geye, Trina |
| description | To comprehensively investigate the neurodevelopmental profile and clinical characteristics associated with SETBP1 haploinsufficiency disorder (SETBP1‐HD) and SETBP1‐related disorders (SETBP1‐RD). We reported genetic results on 34 individuals, with behavior and clinical data from 22 with SETBP1‐HD and 5 with SETBP1‐RD, by assessing results from medical history interviews and standardized adaptive, clinical, and social measures provided from Simons Searchlight. All individuals with SETBP1‐HD and SETBP1‐RD exhibited neurological impairments including intellectual disability/developmental delay (IDD), attention‐deficit/hyperactivity disorder, autism spectrum disorder, and/or seizures, as well as speech and language delays. While restricted interests and repetitive behaviors present challenges, a relative strength was observed in social motivation within both cohorts. Individuals with SETBP1‐RD reported a risk for heart issues and compared to SETBP1‐HD greater risks for orthopedic and somatic issues with greater difficulty in bowel control. Higher rates for neonatal feeding difficulties and febrile seizures were reported for individuals with SETBP1‐HD. Additional prominent characteristics included sleep, vision, and gastrointestinal issues, hypotonia, and high pain tolerance. This characterization of phenotypic overlap (IDD, speech challenges, autistic, and attention deficit traits) and differentiation (somatic and heart issue risks for SETBP1‐RD) between the distinct neurodevelopmental disorders SETBP1‐HD and SETBP1‐RD is critical for medical management and diagnosis.
This paper investigated the neurodevelopmental and clinical characteristics associated with 22 individuals with SETBP1 haploinsufficiency disorder (SETBP1‐HD) and 5 with SETBP1‐related disorders (SETBP1‐RD) by accessing Simons Searchlight data. Individuals exhibited neurological impairments including intellectual disability/developmental delay, attention‐deficit/hyperactivity disorder, autism spectrum disorder, speech/language delays, and seizures. |
| doi_str_mv | 10.1111/cge.14579 |
| format | Article |
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This paper investigated the neurodevelopmental and clinical characteristics associated with 22 individuals with SETBP1 haploinsufficiency disorder (SETBP1‐HD) and 5 with SETBP1‐related disorders (SETBP1‐RD) by accessing Simons Searchlight data. Individuals exhibited neurological impairments including intellectual disability/developmental delay, attention‐deficit/hyperactivity disorder, autism spectrum disorder, speech/language delays, and seizures.</description><identifier>ISSN: 0009-9163</identifier><identifier>ISSN: 1399-0004</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/cge.14579</identifier><identifier>PMID: 38923504</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>adaptive behavior ; Attention deficit hyperactivity disorder ; Autism ; Haploinsufficiency ; Intellectual disabilities ; intellectual disability ; Neonates ; Neurodevelopmental disorders ; Phenotypes ; phenotypic variability ; Risk assessment ; Seizures ; SET‐binding protein ; Social behavior ; Speech ; speech or language developmental disorder</subject><ispartof>Clinical genetics, 2024-10, Vol.106 (4), p.448-461</ispartof><rights>2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c2439-d6ce3bdf417f51f9feb26183af295bb054ee6cfcce60abe072b52101a1491d693</cites><orcidid>0009-0000-7448-9986</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fcge.14579$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fcge.14579$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38923504$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Oyler, Haley O.</creatorcontrib><creatorcontrib>Hudac, Caitlin M.</creatorcontrib><creatorcontrib>Chung, Wendy K.</creatorcontrib><creatorcontrib>Green Synder, LeeAnne</creatorcontrib><creatorcontrib>Robertson, Stephanie</creatorcontrib><creatorcontrib>Srivastava, Siddharth</creatorcontrib><creatorcontrib>Geye, Trina</creatorcontrib><title>SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>To comprehensively investigate the neurodevelopmental profile and clinical characteristics associated with SETBP1 haploinsufficiency disorder (SETBP1‐HD) and SETBP1‐related disorders (SETBP1‐RD). We reported genetic results on 34 individuals, with behavior and clinical data from 22 with SETBP1‐HD and 5 with SETBP1‐RD, by assessing results from medical history interviews and standardized adaptive, clinical, and social measures provided from Simons Searchlight. All individuals with SETBP1‐HD and SETBP1‐RD exhibited neurological impairments including intellectual disability/developmental delay (IDD), attention‐deficit/hyperactivity disorder, autism spectrum disorder, and/or seizures, as well as speech and language delays. While restricted interests and repetitive behaviors present challenges, a relative strength was observed in social motivation within both cohorts. Individuals with SETBP1‐RD reported a risk for heart issues and compared to SETBP1‐HD greater risks for orthopedic and somatic issues with greater difficulty in bowel control. Higher rates for neonatal feeding difficulties and febrile seizures were reported for individuals with SETBP1‐HD. Additional prominent characteristics included sleep, vision, and gastrointestinal issues, hypotonia, and high pain tolerance. This characterization of phenotypic overlap (IDD, speech challenges, autistic, and attention deficit traits) and differentiation (somatic and heart issue risks for SETBP1‐RD) between the distinct neurodevelopmental disorders SETBP1‐HD and SETBP1‐RD is critical for medical management and diagnosis.
This paper investigated the neurodevelopmental and clinical characteristics associated with 22 individuals with SETBP1 haploinsufficiency disorder (SETBP1‐HD) and 5 with SETBP1‐related disorders (SETBP1‐RD) by accessing Simons Searchlight data. Individuals exhibited neurological impairments including intellectual disability/developmental delay, attention‐deficit/hyperactivity disorder, autism spectrum disorder, speech/language delays, and seizures.</description><subject>adaptive behavior</subject><subject>Attention deficit hyperactivity disorder</subject><subject>Autism</subject><subject>Haploinsufficiency</subject><subject>Intellectual disabilities</subject><subject>intellectual disability</subject><subject>Neonates</subject><subject>Neurodevelopmental disorders</subject><subject>Phenotypes</subject><subject>phenotypic variability</subject><subject>Risk assessment</subject><subject>Seizures</subject><subject>SET‐binding protein</subject><subject>Social behavior</subject><subject>Speech</subject><subject>speech or language developmental disorder</subject><issn>0009-9163</issn><issn>1399-0004</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><recordid>eNp10E9LwzAYBvAgipvTg19ACl700C1p-i9HHXMKAwXnTShp8sZldE1NWqXf3rhND4K5vCT55SE8CJ0TPCZ-TcQbjEmcZOwADQllLMQYx4do6AcLGUnpAJ04t_ZbmiXsGA1oziKa4HiIXp9ny9snEqx4Uxldu04pLTTUog94LQMLFW9BBlI7YyVYF4hK11rwantdQ2dNCSv-oY31Z80KatP2DQSu7WR_io4Urxyc7ecIvdzNltP7cPE4f5jeLEIRxZSFMhVAS6likqmEKKagjFKSU64ilpQlTmKAVCghIMW8BJxFZRIRTDiJGZEpoyN0tcttrHnvwLXFRjsBVcVrMJ0rqH-SsTzDuaeXf-jadLb2v_OKsQTnLE69ut4pYY1zFlTRWL3hti8ILr4rL3zlxbZyby_2iV25Afkrfzr2YLIDn7qC_v-kYjqf7SK_AGwmi0I</recordid><startdate>202410</startdate><enddate>202410</enddate><creator>Oyler, Haley O.</creator><creator>Hudac, Caitlin M.</creator><creator>Chung, Wendy K.</creator><creator>Green Synder, LeeAnne</creator><creator>Robertson, Stephanie</creator><creator>Srivastava, Siddharth</creator><creator>Geye, Trina</creator><general>Blackwell Publishing Ltd</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0009-0000-7448-9986</orcidid></search><sort><creationdate>202410</creationdate><title>SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study</title><author>Oyler, Haley O. ; Hudac, Caitlin M. ; Chung, Wendy K. ; Green Synder, LeeAnne ; Robertson, Stephanie ; Srivastava, Siddharth ; Geye, Trina</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2439-d6ce3bdf417f51f9feb26183af295bb054ee6cfcce60abe072b52101a1491d693</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>adaptive behavior</topic><topic>Attention deficit hyperactivity disorder</topic><topic>Autism</topic><topic>Haploinsufficiency</topic><topic>Intellectual disabilities</topic><topic>intellectual disability</topic><topic>Neonates</topic><topic>Neurodevelopmental disorders</topic><topic>Phenotypes</topic><topic>phenotypic variability</topic><topic>Risk assessment</topic><topic>Seizures</topic><topic>SET‐binding protein</topic><topic>Social behavior</topic><topic>Speech</topic><topic>speech or language developmental disorder</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Oyler, Haley O.</creatorcontrib><creatorcontrib>Hudac, Caitlin M.</creatorcontrib><creatorcontrib>Chung, Wendy K.</creatorcontrib><creatorcontrib>Green Synder, LeeAnne</creatorcontrib><creatorcontrib>Robertson, Stephanie</creatorcontrib><creatorcontrib>Srivastava, Siddharth</creatorcontrib><creatorcontrib>Geye, Trina</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Oyler, Haley O.</au><au>Hudac, Caitlin M.</au><au>Chung, Wendy K.</au><au>Green Synder, LeeAnne</au><au>Robertson, Stephanie</au><au>Srivastava, Siddharth</au><au>Geye, Trina</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2024-10</date><risdate>2024</risdate><volume>106</volume><issue>4</issue><spage>448</spage><epage>461</epage><pages>448-461</pages><issn>0009-9163</issn><issn>1399-0004</issn><eissn>1399-0004</eissn><abstract>To comprehensively investigate the neurodevelopmental profile and clinical characteristics associated with SETBP1 haploinsufficiency disorder (SETBP1‐HD) and SETBP1‐related disorders (SETBP1‐RD). We reported genetic results on 34 individuals, with behavior and clinical data from 22 with SETBP1‐HD and 5 with SETBP1‐RD, by assessing results from medical history interviews and standardized adaptive, clinical, and social measures provided from Simons Searchlight. All individuals with SETBP1‐HD and SETBP1‐RD exhibited neurological impairments including intellectual disability/developmental delay (IDD), attention‐deficit/hyperactivity disorder, autism spectrum disorder, and/or seizures, as well as speech and language delays. While restricted interests and repetitive behaviors present challenges, a relative strength was observed in social motivation within both cohorts. Individuals with SETBP1‐RD reported a risk for heart issues and compared to SETBP1‐HD greater risks for orthopedic and somatic issues with greater difficulty in bowel control. Higher rates for neonatal feeding difficulties and febrile seizures were reported for individuals with SETBP1‐HD. Additional prominent characteristics included sleep, vision, and gastrointestinal issues, hypotonia, and high pain tolerance. This characterization of phenotypic overlap (IDD, speech challenges, autistic, and attention deficit traits) and differentiation (somatic and heart issue risks for SETBP1‐RD) between the distinct neurodevelopmental disorders SETBP1‐HD and SETBP1‐RD is critical for medical management and diagnosis.
This paper investigated the neurodevelopmental and clinical characteristics associated with 22 individuals with SETBP1 haploinsufficiency disorder (SETBP1‐HD) and 5 with SETBP1‐related disorders (SETBP1‐RD) by accessing Simons Searchlight data. Individuals exhibited neurological impairments including intellectual disability/developmental delay, attention‐deficit/hyperactivity disorder, autism spectrum disorder, speech/language delays, and seizures.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>38923504</pmid><doi>10.1111/cge.14579</doi><tpages>14</tpages><orcidid>https://orcid.org/0009-0000-7448-9986</orcidid></addata></record> |
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| subjects | adaptive behavior Attention deficit hyperactivity disorder Autism Haploinsufficiency Intellectual disabilities intellectual disability Neonates Neurodevelopmental disorders Phenotypes phenotypic variability Risk assessment Seizures SET‐binding protein Social behavior Speech speech or language developmental disorder |
| title | SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study |
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