Genetic developmental disability diagnosed in adulthood: a case report.
Background: Developmental disabilities (DD) are an umbrella term for conditions associated with functional impairments in physical, learning, language, or behavior areas. Intellectual disability (ID) is a type of developmental disability that results in delays in cognitive or intellectual functionin...
| Publicado en: | Journal of Medical Case Reports Vol. 15; no. 1; pp. 1 - 6 |
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| Autores principales: | , , |
| Formato: | case study Journal Article |
| Publicado: |
BioMed Central
1/25/2021
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=148320268&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 148320268 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 17521947 8X8Q jtl: Journal of Medical Case Reports issn: 17521947 maglogo: N pubinfo: dt: 1/25/2021 vid: 15 iid: 1 pid: 24147 pub: BioMed Central artinfo: ui: 148320268 148320268 NLM33494837 148320268 10.1186/s13256-020-02590-8 NLM33494837 148320268 ppf: 1 ppct: 5 formats: tig: atl: Genetic developmental disability diagnosed in adulthood: a case report. aug: au: Langenfeld, Adam Schema, Lynn Eckerle, Judith K. affil: Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, 717 Delaware Street SE, 55414, Minneapolis, MN, USA sug: subj: Intellectual Disability Developmental Disabilities Intellectual Disability Diagnosis Developmental Disabilities Diagnosis Microarray Analysis Child, Preschool Female Chromosomes Adolescence Adult Child Mutation Caregiver Strain Index Checklists Short Portable Mental Status Questionnaire Death Depression Scale Clinical Assessment Tools Social Readjustment Rating Scale Child, Preschool: 2-5 years Adolescent: 13-18 years Adult: 19-44 years Child: 6-12 years Female ab: Background: Developmental disabilities (DD) are an umbrella term for conditions associated with functional impairments in physical, learning, language, or behavior areas. Intellectual disability (ID) is a type of developmental disability that results in delays in cognitive or intellectual functioning, such as reasoning, learning, and problem-solving, and adaptive behaviors including social and practical life skills. DD can be due to a variety of factors, ranging from environmental exposures to genetic mutations, and studies suggest that up to 40% of DDs may be caused by genetic issues.Case Presentation: In this case study, we present an 18-year-old internationally adopted female Chinese American patient with a known history of developmental delay, intellectual disability, strabismus, and a congenital heart defect who had not been tested for genetic causes of her delay prior to presentation. When evaluated with chromosomal microarray, the patient demonstrated a deletion on the short arm of chromosome 5, an area associated with Cri-du-chat syndrome. This chromosomal deletion was a likely explanation for her history of developmental delays, intellectual disability, and congenital heart defect, in addition to her history of institutionalization and the trauma of multiple caregiver transitions in early childhood. The patient was referred for further evaluation by a geneticist and genetic counselor.Conclusions: This case highlights that the underlying cause of developmental delay is often multifactorial, and underscores the importance of a full medical evaluation, including genetic testing, for children with intellectual disability. Using this approach, healthcare professionals can identify potential diagnoses and provide more targeted resources to families. pubtype: Academic Journal doctype: case study Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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