title: Clinical report: a male with Down syndrome, fragile X syndrome, and autism.
abstract: 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.
authors.affiliation: Lucile Packard Children's Hospital at Stanford, Palo Alto, CA, USA.
authors.forename: Lindsay
authors.initials: L
authors.lastname: Stevens
authors.forename: Nicole
authors.initials: N
authors.lastname: Tartaglia
authors.forename: Randi
authors.initials: R
authors.lastname: Hagerman
authors.forename: Karen
authors.initials: K
authors.lastname: Riley
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000150:complications / Q000628:therapy*; D001521:Behavior Therapy / Q000379:methods; D002653:Child Behavior Disorders / Q000150:complications / Q000628:therapy; D003072:Cognition Disorders / Q000150:complications / Q000628:therapy; D004314:Down Syndrome / Q000150:complications / Q000628:therapy*; D004941:Esophagitis / Q000150:complications / Q000628:therapy; D005600:Fragile X Syndrome / Q000150:complications / Q000628:therapy*; D006801:Humans; D008297:Male; D016896:Treatment Outcome; D044465:White People
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