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Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up
CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inheritance, but also information about the developme...
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| Published in: | American journal of medical genetics. Part C, Seminars in medical genetics Seminars in medical genetics, 2017-12, Vol.175 (4), p.407-416 |
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| container_title | American journal of medical genetics. Part C, Seminars in medical genetics |
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| creator | Hefner, Margaret A. Fassi, Emily |
| description | CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inheritance, but also information about the developmental implications of CS features, referral to appropriate resources, and assistance with psychosocial adaptation to this information. CS should be considered in patients with any of the major diagnostic features: coloboma, choanal atresia, semicircular canal anomalies, or cranial nerve anomalies. The prime candidates in the differential are 22q11.2 deletion and Kabuki syndromes. Evaluation of features of CS, dysmorphology examination, and genetic testing can usually distinguish between the three conditions. Genetic counseling is important from early on, to help the family understand the process of genetic diagnosis, to interpret information coming from other specialists and to provide support and resources. Parents can easily be overwhelmed with the complexity of issues facing their child at diagnosis and in the future. CS is a substantial burden on a child, with high early mortality, multiple illnesses, hospitalizations and surgeries, and apparent medical fragility throughout life. The medical complexity of CS disrupts family life and contributes to delayed development. Multiple sensory deficits (impaired vision, hearing, and balance) further contribute to delayed motor and language development despite many individuals with CS having normal intelligence. Early referral to specialists in deafblindness and sensory deficits is essential. Resources are available to assist genetic counselors in diagnosis, follow‐up, and management of patients with CS. |
| doi_str_mv | 10.1002/ajmg.c.31589 |
| format | article |
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Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inheritance, but also information about the developmental implications of CS features, referral to appropriate resources, and assistance with psychosocial adaptation to this information. CS should be considered in patients with any of the major diagnostic features: coloboma, choanal atresia, semicircular canal anomalies, or cranial nerve anomalies. The prime candidates in the differential are 22q11.2 deletion and Kabuki syndromes. Evaluation of features of CS, dysmorphology examination, and genetic testing can usually distinguish between the three conditions. Genetic counseling is important from early on, to help the family understand the process of genetic diagnosis, to interpret information coming from other specialists and to provide support and resources. Parents can easily be overwhelmed with the complexity of issues facing their child at diagnosis and in the future. CS is a substantial burden on a child, with high early mortality, multiple illnesses, hospitalizations and surgeries, and apparent medical fragility throughout life. The medical complexity of CS disrupts family life and contributes to delayed development. Multiple sensory deficits (impaired vision, hearing, and balance) further contribute to delayed motor and language development despite many individuals with CS having normal intelligence. Early referral to specialists in deafblindness and sensory deficits is essential. Resources are available to assist genetic counselors in diagnosis, follow‐up, and management of patients with CS.</description><identifier>ISSN: 1552-4868</identifier><identifier>EISSN: 1552-4876</identifier><identifier>DOI: 10.1002/ajmg.c.31589</identifier><identifier>PMID: 29088501</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>22q11.2 deletion syndrome ; Anomalies ; Birth defects ; CHARGE syndrome ; CHD7 ; Choanal atresia ; Complexity ; Congenital defects ; deafblind, genetic counseling ; Diagnosis ; Diagnostic systems ; Evaluation ; Families & family life ; Fragility ; Genetic counseling ; Genetic disorders ; Genetic screening ; Genetics ; Hearing ; Heredity ; Illnesses ; Intelligence ; Kabuki syndrome ; Multiple births ; Parents ; Patients ; resources ; sensory deficits ; Skull ; Smell ; Vision</subject><ispartof>American journal of medical genetics. 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Part C, Seminars in medical genetics</title><addtitle>Am J Med Genet C Semin Med Genet</addtitle><description>CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inheritance, but also information about the developmental implications of CS features, referral to appropriate resources, and assistance with psychosocial adaptation to this information. CS should be considered in patients with any of the major diagnostic features: coloboma, choanal atresia, semicircular canal anomalies, or cranial nerve anomalies. The prime candidates in the differential are 22q11.2 deletion and Kabuki syndromes. Evaluation of features of CS, dysmorphology examination, and genetic testing can usually distinguish between the three conditions. Genetic counseling is important from early on, to help the family understand the process of genetic diagnosis, to interpret information coming from other specialists and to provide support and resources. Parents can easily be overwhelmed with the complexity of issues facing their child at diagnosis and in the future. CS is a substantial burden on a child, with high early mortality, multiple illnesses, hospitalizations and surgeries, and apparent medical fragility throughout life. The medical complexity of CS disrupts family life and contributes to delayed development. Multiple sensory deficits (impaired vision, hearing, and balance) further contribute to delayed motor and language development despite many individuals with CS having normal intelligence. Early referral to specialists in deafblindness and sensory deficits is essential. Resources are available to assist genetic counselors in diagnosis, follow‐up, and management of patients with CS.</description><subject>22q11.2 deletion syndrome</subject><subject>Anomalies</subject><subject>Birth defects</subject><subject>CHARGE syndrome</subject><subject>CHD7</subject><subject>Choanal atresia</subject><subject>Complexity</subject><subject>Congenital defects</subject><subject>deafblind, genetic counseling</subject><subject>Diagnosis</subject><subject>Diagnostic systems</subject><subject>Evaluation</subject><subject>Families & family life</subject><subject>Fragility</subject><subject>Genetic counseling</subject><subject>Genetic disorders</subject><subject>Genetic screening</subject><subject>Genetics</subject><subject>Hearing</subject><subject>Heredity</subject><subject>Illnesses</subject><subject>Intelligence</subject><subject>Kabuki syndrome</subject><subject>Multiple births</subject><subject>Parents</subject><subject>Patients</subject><subject>resources</subject><subject>sensory deficits</subject><subject>Skull</subject><subject>Smell</subject><subject>Vision</subject><issn>1552-4868</issn><issn>1552-4876</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><recordid>eNp90DFPwzAQBWALgSgUNmZkiYWBFDuxk5itCqUFFZAQzFZiX9JUiV3ihqr_npSWDgxMd8N3T6eH0AUlA0qIf5vO62KgBgHlsThAJ5Rz32NxFB7u9zDuoVPn5oQEhEfxMer5gsQxJ_QEvYzBwLJUWNnWOKhKU-DS4GQyfBuPsFsb3dga7vB9mRbGuo2Er7Rq02VpDV7OGtsWM5zbqrIr3C7O0FGeVg7Od7OPPh5G78nEm76OH5Ph1FOM-MJjWQYRMB1QFTMBmoTAiBBCMcUFhAFoDZQSIDpSAjJBM_B5ACnoMNcszII-ut7mLhr72YJbyrp0CqoqNWBbJ6ngMWfdTdDRqz90btvGdN91KuJh9w_ZqJutUo11roFcLpqyTpu1pERuepabnqWSPz13_HIX2mY16D3-LbYDbAtWZQXrf8Pk8Ol5nGxzvwEjrImn</recordid><startdate>201712</startdate><enddate>201712</enddate><creator>Hefner, Margaret A.</creator><creator>Fassi, Emily</creator><general>Wiley Subscription Services, Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QO</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-4097-4286</orcidid><orcidid>https://orcid.org/0000-0002-9783-0013</orcidid></search><sort><creationdate>201712</creationdate><title>Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up</title><author>Hefner, Margaret A. ; Fassi, Emily</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4029-4bbe7e4d31c849ed06e40999c4c59e63edde110e0d7c9eb91be253eaed6fd46b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>22q11.2 deletion syndrome</topic><topic>Anomalies</topic><topic>Birth defects</topic><topic>CHARGE syndrome</topic><topic>CHD7</topic><topic>Choanal atresia</topic><topic>Complexity</topic><topic>Congenital defects</topic><topic>deafblind, genetic counseling</topic><topic>Diagnosis</topic><topic>Diagnostic systems</topic><topic>Evaluation</topic><topic>Families & family life</topic><topic>Fragility</topic><topic>Genetic counseling</topic><topic>Genetic disorders</topic><topic>Genetic screening</topic><topic>Genetics</topic><topic>Hearing</topic><topic>Heredity</topic><topic>Illnesses</topic><topic>Intelligence</topic><topic>Kabuki syndrome</topic><topic>Multiple births</topic><topic>Parents</topic><topic>Patients</topic><topic>resources</topic><topic>sensory deficits</topic><topic>Skull</topic><topic>Smell</topic><topic>Vision</topic><toplevel>online_resources</toplevel><creatorcontrib>Hefner, Margaret A.</creatorcontrib><creatorcontrib>Fassi, Emily</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Biotechnology Research Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & 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 C, Seminars in medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hefner, Margaret A.</au><au>Fassi, Emily</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up</atitle><jtitle>American journal of medical genetics. Part C, Seminars in medical genetics</jtitle><addtitle>Am J Med Genet C Semin Med Genet</addtitle><date>2017-12</date><risdate>2017</risdate><volume>175</volume><issue>4</issue><spage>407</spage><epage>416</epage><pages>407-416</pages><issn>1552-4868</issn><eissn>1552-4876</eissn><notes>ObjectType-Article-2</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-3</notes><notes>content type line 23</notes><notes>ObjectType-Review-1</notes><abstract>CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inheritance, but also information about the developmental implications of CS features, referral to appropriate resources, and assistance with psychosocial adaptation to this information. CS should be considered in patients with any of the major diagnostic features: coloboma, choanal atresia, semicircular canal anomalies, or cranial nerve anomalies. The prime candidates in the differential are 22q11.2 deletion and Kabuki syndromes. Evaluation of features of CS, dysmorphology examination, and genetic testing can usually distinguish between the three conditions. Genetic counseling is important from early on, to help the family understand the process of genetic diagnosis, to interpret information coming from other specialists and to provide support and resources. Parents can easily be overwhelmed with the complexity of issues facing their child at diagnosis and in the future. CS is a substantial burden on a child, with high early mortality, multiple illnesses, hospitalizations and surgeries, and apparent medical fragility throughout life. The medical complexity of CS disrupts family life and contributes to delayed development. Multiple sensory deficits (impaired vision, hearing, and balance) further contribute to delayed motor and language development despite many individuals with CS having normal intelligence. Early referral to specialists in deafblindness and sensory deficits is essential. Resources are available to assist genetic counselors in diagnosis, follow‐up, and management of patients with CS.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>29088501</pmid><doi>10.1002/ajmg.c.31589</doi><tpages>10</tpages><orcidid>https://orcid.org/0000-0002-4097-4286</orcidid><orcidid>https://orcid.org/0000-0002-9783-0013</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | 22q11.2 deletion syndrome Anomalies Birth defects CHARGE syndrome CHD7 Choanal atresia Complexity Congenital defects deafblind, genetic counseling Diagnosis Diagnostic systems Evaluation Families & family life Fragility Genetic counseling Genetic disorders Genetic screening Genetics Hearing Heredity Illnesses Intelligence Kabuki syndrome Multiple births Parents Patients resources sensory deficits Skull Smell Vision |
| title | Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up |
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