Published online July 3, 2006
PEDIATRICS Vol. 118 No. 1 July 2006, pp. 139-145 (doi:10.1542/peds.2005-2702)

This Article Full Text Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in Web of Science Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Web of Science (2) Citing Articles via Google Scholar Google Scholar Articles by Srour, M. Articles by Shevell, M. I. Search for Related Content PubMed PubMed Citation Articles by Srour, M. Articles by Shevell, M. I. Related Collections Developmental/Behavior Social Bookmarking                         What's this?

Analysis of Clinical Features Predicting Etiologic Yield in the Assessment of Global Developmental Delay

Myriam Srour, MD, CM^a, Barbara Mazer, BSc (OT), PhD^b and Michael I. Shevell, MD, CM^a

^a Division of Pediatric Neurology, Montreal Children's Hospital-McGill University Health Center, Departments of Neurology/Neurosurgery and Pediatrics, Montreal, Quebec, Canada
^b School of Physical and Occupational Therapy, McGill University, Montreal, Quebec, Canada

OBJECTIVE. Global developmental delay is a common reason for presentation for neurologic evaluation. This study examined the role of clinical features in predicting the identification of an underlying cause for a child's global developmental delay.

METHODS. Over a 10-year inclusive interval, the case records of all consecutive children <5 years of age referred to a single ambulatory practice setting for global developmental delay were systematically reviewed. The use of clinical features in predicting the identification of a specific underlying cause for a child's delay was tested using ² analysis.

RESULTS. A total of 261 patients eventually met criteria for study inclusion. Mean age at initial evaluation was 33.6 months. An underlying cause was found in 98 children. Commonest etiologic groupings were genetic syndrome/chromosomal abnormality, intrapartum asphyxia, cerebral dysgenesis, psychosocial deprivation, and toxin exposure. Factors associated with the ability to eventually identify an underlying cause included female gender (40 of 68 vs 58 of 193), abnormal prenatal/perinatal history (52 of 85 vs 46 of 176), absence of autistic features (85 of 159 vs 13 of 102), presence of microcephaly (26 of 40 vs 72 of 221), abnormal neurologic examination (52 of 71 vs 46 of 190), and dysmorphic features (44 of 84 vs 54 of 177). In 113 children without any abnormal features identified on history or physical examination, routine screening investigations (karyotype, fragile X molecular genotyping, and neuroimaging) revealed an underlying etiology in 18.

CONCLUSIONS. Etiologic yield in an unselected series of young children with global developmental delay is close to 40% overall and 55% in the absence of any coexisting autistic features. Clinical features are readily apparent that may enhance an expectation of a successful etiologic search. Screening investigations may yield an underlying cause.

---

Key Words: etiology • developmental delay • evaluation

Abbreviations: GDD—global developmental delay • PDD—pervasive developmental delay • PVL—term periventricular leukomalacia

---

Accepted Jan 24, 2006.

CiteULike    Connotea    Del.icio.us    Digg    Facebook    Reddit    Technorati    Twitter    What's this?

This article has been cited by other articles:

				J. E. Roberts, J. B. Mankowski, J. Sideris, B. D. Goldman, D. D. Hatton, P. L. Mirrett, G. T. Baranek, J. S. Reznick, A. C. J. Long, and D. B. Bailey Jr Trajectories and Predictors of the Development of Very Young Boys with Fragile X Syndrome J. Pediatr. Psychol., September 1, 2009; 34(8): 827 - 836. [Abstract] [Full Text] [PDF]

				R. C. Tervo and M. Asis Parents' Reports Predict Abnormal Investigations in Global Developmental Delay Clinical Pediatrics, June 1, 2009; 48(5): 513 - 521. [Abstract] [PDF]

				C. P. Johnson, S. M. Myers, and and the Council on Children With Disabilities Identification and Evaluation of Children With Autism Spectrum Disorders Pediatrics, November 1, 2007; 120(5): 1183 - 1215. [Abstract] [Full Text] [PDF]

				A. Parmeggiani, A. Posar, C. Antolini, M. C. Scaduto, M. Santucci, and P. Giovanardi-Rossi Epilepsy in Patients With Pervasive Developmental Disorder Not Otherwise Specified J Child Neurol, October 1, 2007; 22(10): 1198 - 1203. [Abstract] [PDF]

				E. G. Puffenberger, K. A. Strauss, K. E. Ramsey, D. W. Craig, D. A. Stephan, D. L. Robinson, C. L. Hendrickson, S. Gottlieb, D. A. Ramsay, V. M. Siu, et al. Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5 Brain, July 1, 2007; 130(7): 1929 - 1941. [Abstract] [Full Text] [PDF]

				S. Baron-Cohen About 1% of children in the South Thames region have an autistic spectrum disorder Evid. Based Ment. Health, February 1, 2007; 10(1): 28 - 28. [Full Text] [PDF]

				Journal Watch Arch. Dis. Child., February 1, 2007; 92(2): 181 - 182. [Full Text] [PDF]

				Unraveling the Causes of Global Developmental Delay Journal Watch Pediatrics and Adolescent Medicine, November 1, 2006; 2006(1101): 2 - 2. [Full Text]