Two children with autism and Klinefelter syndrome (KS) (47, XXY) are presented. Both qualify for the diagnosis of autism based on DSM-IV with severely delayed and disordered language, difficulties with social interaction, and a restricted range of interests and activities. Both also have abnormal EEGs, and one patient has had what appear to be clinical seizures. Trials of antiepileptic medications have not been beneficial in either patient. We report the clinical and EEG findings of each patient, and discuss the implications of this combination of disorders.
机构:
Stanford Univ, Sch Med, Dept Genet, Stanford, CA USA
Verily Life Sci, San Francisco, CA USAStanford Univ, Sch Med, Dept Genet, Stanford, CA USA
Ahlawat, Nivedita
Elliott, Kathryn
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Stanford Univ, Sch Med, Dept Genet, Stanford, CA USA
Kaiser Permanente San Francisco, San Francisco, CA USAStanford Univ, Sch Med, Dept Genet, Stanford, CA USA
Elliott, Kathryn
Ormond, Kelly E.
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机构:
Stanford Univ, Sch Med, Dept Genet, Stanford, CA USA
Stanford Univ, Stanford Ctr Biomed Eth, Sch Med, Stanford, CA USA
Swiss Fed Inst Technol, Dept Hlth Sci & Technol, Hlth Eth & Policy Lab, Zurich, SwitzerlandStanford Univ, Sch Med, Dept Genet, Stanford, CA USA
Ormond, Kelly E.
Allyse, Megan A.
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机构:
Mayo Clin, Quantitat Hlth Sci, Jacksonville, FL USA
Mayo Clin, Obstet & Gynecol, Rochester, MN USA
Mayo Clin, Biomed Eth Res Program, 200 First S SW, Rochester, MN 55905 USAStanford Univ, Sch Med, Dept Genet, Stanford, CA USA
Allyse, Megan A.
Riggan, Kirsten A.
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h-index: 0
机构:
Mayo Clin, Biomed Eth Res Program, 200 First S SW, Rochester, MN 55905 USAStanford Univ, Sch Med, Dept Genet, Stanford, CA USA
机构:
George Washington Univ, Dept Pediat, Washington, DC 20052 USA
Florida Int Univ, Dept Human & Mol Genet, Miami, FL 33199 USA
Focus Fdn, 820 W Cent Ave 190, Davidsonville, MD 21035 USAGeorge Washington Univ, Dept Pediat, Washington, DC 20052 USA
Samango-Sprouse, Carole A.
Counts, Debra R.
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h-index: 0
机构:
Sinai Hosp, Pediat Endocrinol, 2401 W Belvedere Ave, Baltimore, MD 21215 USAGeorge Washington Univ, Dept Pediat, Washington, DC 20052 USA
Counts, Debra R.
Tran, Selena L.
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h-index: 0
机构:
Focus Fdn, 820 W Cent Ave 190, Davidsonville, MD 21035 USAGeorge Washington Univ, Dept Pediat, Washington, DC 20052 USA
Tran, Selena L.
Lasutschinkow, Patricia C.
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h-index: 0
机构:
Focus Fdn, 820 W Cent Ave 190, Davidsonville, MD 21035 USAGeorge Washington Univ, Dept Pediat, Washington, DC 20052 USA
Lasutschinkow, Patricia C.
Porter, Grace F.
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h-index: 0
机构:
Focus Fdn, 820 W Cent Ave 190, Davidsonville, MD 21035 USAGeorge Washington Univ, Dept Pediat, Washington, DC 20052 USA
Porter, Grace F.
Gropman, Andrea L.
论文数: 0引用数: 0
h-index: 0
机构:
George Washington Univ, Dept Neurol, Washington, DC USA
Childrens Natl Med Ctr, Div Neurogenet & Dev Pediat, Washington, DC 20010 USAGeorge Washington Univ, Dept Pediat, Washington, DC 20052 USA
机构:
Emory Univ, Dept Human Genet, Atlanta, GA 30033 USA
Emory Univ, Dept Pediat, Atlanta, GA 30033 USAEmory Univ, Dept Human Genet, Atlanta, GA 30033 USA
Visootsak, Jeannie
Ayari, Natalie
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h-index: 0
机构:
Univ Colorado, Dept Pediat, Sch Med, Aurora, CO USA
Childrens Hosp Colorado, Child Dev Unit, Aurora, CO USAEmory Univ, Dept Human Genet, Atlanta, GA 30033 USA
Ayari, Natalie
Howell, Susan
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h-index: 0
机构:
Univ Colorado, Dept Pediat, Sch Med, Aurora, CO USA
Childrens Hosp Colorado, Child Dev Unit, Aurora, CO USAEmory Univ, Dept Human Genet, Atlanta, GA 30033 USA
Howell, Susan
Lazarus, Joash
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h-index: 0
机构:
Emory Univ, Dept Human Genet, Atlanta, GA 30033 USAEmory Univ, Dept Human Genet, Atlanta, GA 30033 USA
Lazarus, Joash
Tartaglia, Nicole
论文数: 0引用数: 0
h-index: 0
机构:
Univ Colorado, Dept Pediat, Sch Med, Aurora, CO USA
Childrens Hosp Colorado, Child Dev Unit, Aurora, CO USAEmory Univ, Dept Human Genet, Atlanta, GA 30033 USA
机构:
Stanford Univ, Sch Med, Dept Genet, Stanford, CA USA
Verily Life Sci, San Francisco, CA USAStanford Univ, Sch Med, Dept Genet, Stanford, CA USA
Ahlawat, Nivedita
Elliott, Kathryn
论文数: 0引用数: 0
h-index: 0
机构:
Stanford Univ, Sch Med, Dept Genet, Stanford, CA USA
Kaiser Permanente San Francisco, San Francisco, CA USAStanford Univ, Sch Med, Dept Genet, Stanford, CA USA
Elliott, Kathryn
Ormond, Kelly E.
论文数: 0引用数: 0
h-index: 0
机构:
Stanford Univ, Sch Med, Dept Genet, Stanford, CA USA
Stanford Univ, Stanford Ctr Biomed Eth, Sch Med, Stanford, CA USA
Swiss Fed Inst Technol, Dept Hlth Sci & Technol, Hlth Eth & Policy Lab, Zurich, SwitzerlandStanford Univ, Sch Med, Dept Genet, Stanford, CA USA
Ormond, Kelly E.
Allyse, Megan A.
论文数: 0引用数: 0
h-index: 0
机构:
Mayo Clin, Quantitat Hlth Sci, Jacksonville, FL USA
Mayo Clin, Obstet & Gynecol, Rochester, MN USA
Mayo Clin, Biomed Eth Res Program, 200 First S SW, Rochester, MN 55905 USAStanford Univ, Sch Med, Dept Genet, Stanford, CA USA
Allyse, Megan A.
Riggan, Kirsten A.
论文数: 0引用数: 0
h-index: 0
机构:
Mayo Clin, Biomed Eth Res Program, 200 First S SW, Rochester, MN 55905 USAStanford Univ, Sch Med, Dept Genet, Stanford, CA USA
机构:
George Washington Univ, Dept Pediat, Washington, DC 20052 USA
Florida Int Univ, Dept Human & Mol Genet, Miami, FL 33199 USA
Focus Fdn, 820 W Cent Ave 190, Davidsonville, MD 21035 USAGeorge Washington Univ, Dept Pediat, Washington, DC 20052 USA
Samango-Sprouse, Carole A.
Counts, Debra R.
论文数: 0引用数: 0
h-index: 0
机构:
Sinai Hosp, Pediat Endocrinol, 2401 W Belvedere Ave, Baltimore, MD 21215 USAGeorge Washington Univ, Dept Pediat, Washington, DC 20052 USA
Counts, Debra R.
Tran, Selena L.
论文数: 0引用数: 0
h-index: 0
机构:
Focus Fdn, 820 W Cent Ave 190, Davidsonville, MD 21035 USAGeorge Washington Univ, Dept Pediat, Washington, DC 20052 USA
Tran, Selena L.
Lasutschinkow, Patricia C.
论文数: 0引用数: 0
h-index: 0
机构:
Focus Fdn, 820 W Cent Ave 190, Davidsonville, MD 21035 USAGeorge Washington Univ, Dept Pediat, Washington, DC 20052 USA
Lasutschinkow, Patricia C.
Porter, Grace F.
论文数: 0引用数: 0
h-index: 0
机构:
Focus Fdn, 820 W Cent Ave 190, Davidsonville, MD 21035 USAGeorge Washington Univ, Dept Pediat, Washington, DC 20052 USA
Porter, Grace F.
Gropman, Andrea L.
论文数: 0引用数: 0
h-index: 0
机构:
George Washington Univ, Dept Neurol, Washington, DC USA
Childrens Natl Med Ctr, Div Neurogenet & Dev Pediat, Washington, DC 20010 USAGeorge Washington Univ, Dept Pediat, Washington, DC 20052 USA
机构:
Emory Univ, Dept Human Genet, Atlanta, GA 30033 USA
Emory Univ, Dept Pediat, Atlanta, GA 30033 USAEmory Univ, Dept Human Genet, Atlanta, GA 30033 USA
Visootsak, Jeannie
Ayari, Natalie
论文数: 0引用数: 0
h-index: 0
机构:
Univ Colorado, Dept Pediat, Sch Med, Aurora, CO USA
Childrens Hosp Colorado, Child Dev Unit, Aurora, CO USAEmory Univ, Dept Human Genet, Atlanta, GA 30033 USA
Ayari, Natalie
Howell, Susan
论文数: 0引用数: 0
h-index: 0
机构:
Univ Colorado, Dept Pediat, Sch Med, Aurora, CO USA
Childrens Hosp Colorado, Child Dev Unit, Aurora, CO USAEmory Univ, Dept Human Genet, Atlanta, GA 30033 USA
Howell, Susan
Lazarus, Joash
论文数: 0引用数: 0
h-index: 0
机构:
Emory Univ, Dept Human Genet, Atlanta, GA 30033 USAEmory Univ, Dept Human Genet, Atlanta, GA 30033 USA
Lazarus, Joash
Tartaglia, Nicole
论文数: 0引用数: 0
h-index: 0
机构:
Univ Colorado, Dept Pediat, Sch Med, Aurora, CO USA
Childrens Hosp Colorado, Child Dev Unit, Aurora, CO USAEmory Univ, Dept Human Genet, Atlanta, GA 30033 USA