| Clinical report: a male with Down syndrome, fragile X syndrome, and autism. | |
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MedLine Citation:
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PMID: 20453578 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A case of a 14-year-old boy with both fragile X syndrome and Down syndrome is described. This is the third reported case of a patient with fragile X syndrome plus Down syndrome and the first reported case in a male. Facial features are generally consistent with Down syndrome; however, a prominent forehead and jaw and maccroorchidism were consistent with fragile X syndrome. Joint laxity is also present, which is consistent with both disorders. Cognitive impairment is more significant than in his siblings with fragile X syndrome, and he meets criteria for autistic disorder. Ongoing behavioral dysregulation has been significant, leading to disruption of home and school environments despite many attempted psychopharmacologic and behavioral strategies and a supportive family. Identification and treatment of underlying medical problems (esophagitis) led to improvements in sleep and behavior. We emphasize discussion of challenges in his behavioral management and present a collaborative approach to behavioral management. |
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Authors:
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Lindsay Stevens; Nicole Tartaglia; Randi Hagerman; Karen Riley |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Journal of developmental and behavioral pediatrics : JDBP Volume: 31 ISSN: 1536-7312 ISO Abbreviation: J Dev Behav Pediatr Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-05-10 Completed Date: 2010-08-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8006933 Medline TA: J Dev Behav Pediatr Country: United States |
Other Details:
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Languages: eng Pagination: 333-7 Citation Subset: IM |
Affiliation:
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Lucile Packard Children's Hospital at Stanford, Palo Alto, CA, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Autistic Disorder / complications, therapy* Behavior Therapy / methods Child Behavior Disorders / complications, therapy Cognition Disorders / complications, therapy Down Syndrome / complications, therapy* Esophagitis / complications, therapy European Continental Ancestry Group Fragile X Syndrome / complications, therapy* Humans Male Treatment Outcome |
| Grant Support | |
ID/Acronym/Agency:
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90DD0596/DD/NCBDD CDC HHS; HD03671/HD/NICHD NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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