Lindsay Stevens

Publication Details

  • Clinical Report A Male With Down Syndrome, Fragile X Syndrome, and Autism JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS Stevens, L., Tartaglia, N., Hagerman, R., Riley, K. 2010; 31 (4): 333-337


    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.

    View details for DOI 10.1097/DBP.0b013e3181d5aa56

    View details for Web of Science ID 000277769600010

    View details for PubMedID 20453578

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