The use by alabama pediatricians of genetics consultation in the evaluation of developmental delay

American Journal of Medical Genetics, Part A

Volumn 146, Issue 4, 2008, Pages 421-425

  Chen, Min Jye ^a   Holt, Cheryl L ^b   Lose, Edward J ^c   Robin, Nathaniel H ^c,d  

^a UNIVERSITY OF ALABAMA SCHOOL OF MEDICINE   (United States)

^b University of Alabama at Birmingham   (United States)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^d UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

Alabama; Developmental delay; General pediatricians; Genetic testing; Genetics evaluation

Indexed keywords

ARTICLE; BIRTH DEFECT; CLINICAL PRACTICE; CONSULTATION; DEVELOPMENTAL DISORDER; DEVELOPMENTAL GENETICS; FAMILY HISTORY; GENETIC ANALYSIS; HEALTH SURVEY; HEREDITY; HUMAN; PATIENT CARE; PATIENT REFERRAL; PEDIATRICIAN; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROGNOSIS; QUESTIONNAIRE; RECURRENCE RISK; RISK FACTOR; RURAL AREA; STANDARD; SUBURBAN AREA; UNITED STATES; URBAN AREA;

ALABAMA; CHILD; DEVELOPMENTAL DISABILITIES; GENETIC SERVICES; HEALTH SERVICES ACCESSIBILITY; HUMANS; PEDIATRICS; PHYSICIANS, FAMILY; QUESTIONNAIRES; REFERRAL AND CONSULTATION;

EID: 38849185386     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32150     Document Type: Article

References (13)

1. American Academy of Pediatrics Committee on Children with Disabilities. 2001. Developmental surveillance and screening of infants and young children. Peds 108:192-195.
2. Burke W, Acheson L, Botkin J, Bridges K, Davis A, Evans J, Frias J, Hanson J, Kahn R, Lanier D, Pinsky LE, Press N, Lloyd-Puryear MA, Rich E, Stevens N, Thomson E, Wartman S, Wilson M. 2002. Genetics in primary care: A USA faculty development initiative. Comm Genet 5:138-146.
3. Curry CJ, Stevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, Cunniff C, Graham JM, Jones MC, Kaback MM, Moeschler J, Schaefer GB, Schwartz S, Tarleton J, Opitz J. 1997. Evaluation of mental retardation: Recommendations of a consensus conference - American College of Medical Genetics. Am J Med Genet 72:468-477.
4. Delgado C, Vagi SJ, Scott KG. 2006. Tracking preschool children with developmental delay: Third grade outcomes. Am J Mental Retard 111:299-306.
5. Glascoe FP. 2000. Early detection of developmental and behavioral problems. Pediatr Rev 21:272-279.
6. Majnemer A, Shevell MI. 1995. Diagnostic yield of the neurologic assessment of the developmentally delayed child. J Pediatr 127:193-199.
7. Moeschler JB, Shevell M, American Academy of Pediatrics Committee on Genetics. 2006. Clinical genetic evaluation of the child with mental retardation or developmental delays. Peds 117:2304-2316.
8. Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, Zenker M, Hüffmeier U, Thiel C, Rüschendorf F, Nürnberg P, Reis A, Trautmann U. 2006. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet Part A 140A:2063-2074.
9. Robin NH. 2006. It does matter: The importance of making the diagnosis of a genetic syndrome. Curr Opin Pediatr 18:595-597.
10. Sand N, Silverstein M, Glascoe FP, Tonniges T, Gupta B, O'Connor K. 2005. Pediatricians' reported practices regarding developmental screening: Are guidelines used? Do they help? Peds 116:174-179.
11. Silverstein M, Sand N, Glascoe F, Gupta V, Tonninges TP, O'Connor KG. 2006. Pediatrician practices regarding referral to Early Intervention Services: Is an established diagnosis important? Amb Peds 6:105-109.
12. Simeonsson RJ, Sharp MC. 1992. Developmental delays. In: Hoekelman RA, Friedman SB, Nelson NM, Seidel HM, Weitzman ML, Wilson MEH, editors. Primary pediatric care. St. Louis: Mosby-Year Book. p 867-870.
13. Van Karnebeek C, Jansweijer M, Leenders A, Offringa M, Hennekam R. 2005. Diagnostic investigations in individuals with metal retardation: A systematic literature review of their usefulness. Eur J Hum Genet 13:6-25.