Gail A Spiridigliozzi

Summary

Affiliation: Duke University Medical Center
Country: USA

Publications

  1. doi request reprint Early cognitive development in children with infantile Pompe disease
    Gail A Spiridigliozzi
    Division of Child Development and Behavioral Health, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Mol Genet Metab 105:428-32. 2012
  2. doi request reprint Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up
    Gail A Spiridigliozzi
    Durham Child Development and Behavioral Health Clinic, Duke University Medical Center, Durham, NC 27707, USA
    Am J Med Genet C Semin Med Genet 160:22-9. 2012
  3. doi request reprint Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17
    Priya S Kishnani
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet A 152:3028-35. 2010
  4. ncbi request reprint Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: a clinical report series
    Gail A Spiridigliozzi
    Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Med Genet A 143:1408-13. 2007
  5. pmc Influence of genetic risk information on parental role identity in adolescent girls and young women from families with fragile X syndrome
    Allyn McConkie-Rosell
    Division of Medical Genetics, Department of Pediatrics, Duke University Health System, Durham, NC 27710, USA
    J Genet Couns 21:59-71. 2012
  6. pmc Safety and efficacy of rivastigmine in adolescents with Down syndrome: a preliminary 20-week, open-label study
    James H Heller
    Department of Surgery, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Child Adolesc Psychopharmacol 16:755-65. 2006
  7. pmc Safety and efficacy of rivastigmine in adolescents with Down syndrome: long-term follow-up
    James H Heller
    Department of Surgery, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Child Adolesc Psychopharmacol 20:517-20. 2010
  8. doi request reprint The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome
    Priya S Kishnani
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet A 149:1641-54. 2009
  9. ncbi request reprint Clinical trials in children with Down syndrome: issues from a cognitive research perspective
    James H Heller
    Department of Surgery, Duke University Medical Center DUMC, Box 3528, 244 Bell Building, Durham, NC 27710, USA
    Am J Med Genet C Semin Med Genet 142:187-95. 2006
  10. pmc When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families
    Ramsey M Wehbe
    Department of Pediatrics, Duke University Health System, Durham, North Carolina 27710, USA
    Am J Med Genet A 149:1190-9. 2009

Collaborators

Detail Information

Publications15

  1. doi request reprint Early cognitive development in children with infantile Pompe disease
    Gail A Spiridigliozzi
    Division of Child Development and Behavioral Health, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Mol Genet Metab 105:428-32. 2012
    ..Continued investigation of the cognitive development of older survivors is warranted...
  2. doi request reprint Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up
    Gail A Spiridigliozzi
    Durham Child Development and Behavioral Health Clinic, Duke University Medical Center, Durham, NC 27707, USA
    Am J Med Genet C Semin Med Genet 160:22-9. 2012
    ..The implication of these findings on our understanding of a possible relationship between CNS status in children with Pompe and their adaptive and cognitive function is discussed...
  3. doi request reprint Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17
    Priya S Kishnani
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet A 152:3028-35. 2010
    ..0001), with no significant between-group differences. This trial failed to demonstrate any benefit for donepezil versus placebo in children and adolescents with DS, although donepezil appeared to be well tolerated...
  4. ncbi request reprint Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: a clinical report series
    Gail A Spiridigliozzi
    Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Med Genet A 143:1408-13. 2007
    ..It also supports the need for larger, double-blind studies of the safety and efficacy of donepezil and other cholinesterase inhibitors for children with DS...
  5. pmc Influence of genetic risk information on parental role identity in adolescent girls and young women from families with fragile X syndrome
    Allyn McConkie-Rosell
    Division of Medical Genetics, Department of Pediatrics, Duke University Health System, Durham, NC 27710, USA
    J Genet Couns 21:59-71. 2012
    ..Findings offer valuable insight into the impact of genetic risk information on developing perceptions of the parental role and offer new directions for genetic counseling with adolescents and young women with a family history of FXS...
  6. pmc Safety and efficacy of rivastigmine in adolescents with Down syndrome: a preliminary 20-week, open-label study
    James H Heller
    Department of Surgery, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Child Adolesc Psychopharmacol 16:755-65. 2006
    ..These results underscore the need for larger, controlled studies employing a carefully constructed test battery capable of measuring the full scope of performance across multiple domains and a wide range of functional levels...
  7. pmc Safety and efficacy of rivastigmine in adolescents with Down syndrome: long-term follow-up
    James H Heller
    Department of Surgery, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Child Adolesc Psychopharmacol 20:517-20. 2010
    ..The discussion addresses the challenge of assessing cognitive change in clinical trials using adolescents with Down syndrome as subjects and the use of group versus individual data to evaluate the relevance of medication effects...
  8. doi request reprint The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome
    Priya S Kishnani
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet A 149:1641-54. 2009
    ..Outcomes in post hoc analyses suggested efficacy in some, but not all subjects, consistent with phenotypic variability of DS. Additional studies are required to confirm potential benefits of donepezil in this population...
  9. ncbi request reprint Clinical trials in children with Down syndrome: issues from a cognitive research perspective
    James H Heller
    Department of Surgery, Duke University Medical Center DUMC, Box 3528, 244 Bell Building, Durham, NC 27710, USA
    Am J Med Genet C Semin Med Genet 142:187-95. 2006
    ..It is hoped that this article will raise awareness of the unmet need for clinical research in the cognitive and adaptive function of individuals with DS, especially children with DS...
  10. pmc When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families
    Ramsey M Wehbe
    Department of Pediatrics, Duke University Health System, Durham, North Carolina 27710, USA
    Am J Med Genet A 149:1190-9. 2009
    ..Study findings suggest that decisions regarding the timing to inform about genetic risk and offer testing should be tailored to the individual needs of the child and his/her family...
  11. pmc Living with genetic risk: effect on adolescent self-concept
    Allyn McConkie-Rosell
    Division of Medical Genetics, Department of Pediatrics, Duke University Health System, Durham, NC 27710, USA
    Am J Med Genet C Semin Med Genet 148:56-69. 2008
    ..Certainty related to genetic risk status appears to make a positive difference for some girls by allowing them the opportunity to face the challenge of their genetic risk status and to begin to consider the meaning of this information...
  12. pmc Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome
    Allyn McConkie-Rosell
    Division of Medical Genetics, Duke University Health System, Durham, NC 27710, USA
    J Genet Couns 18:313-25. 2009
    ..Girls who had been tested and knew their actual carrier status were more likely to report an open communication pattern than girls who knew only that they were at-risk...
  13. ncbi request reprint "Family matters": a conceptual framework for genetic testing in children
    Allyn McConkie-Rosell
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Genet Couns 13:9-29. 2004
    ....
  14. ncbi request reprint Arithmetic difficulties in females with the fragile X premutation
    Ave M Lachiewicz
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet A 140:665-72. 2006
    ..This information is important both for counseling purposes and to understand whether a mathematics deficit is evidence of low expression of the FMR1 gene in the premutation state...
  15. pmc Donepezil for the treatment of language deficits in adults with Down syndrome: a preliminary 24-week open trial
    James H Heller
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet A 116:111-6. 2003
    ..The results support the need for large-scale controlled studies of the effects of donepezil treatment on language and on other cognitive domains in DS...