Developmental delay: When to suspect and how to investigate for an inborn error of metabolism

Archives of Disease in Childhood

Volumn 90, Issue 11, 2005, Pages 1128-1132

  Cleary, M A ^a   Green, A ^b  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANAMNESIS; DEVELOPMENTAL DISORDER; HUMAN; INBORN ERROR OF METABOLISM; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; PATIENT COUNSELING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RECURRENT DISEASE; REVIEW; SPEECH DISORDER;

BIOLOGICAL MARKERS; CHILD; DEVELOPMENTAL DISABILITIES; HUMANS; MEDICAL HISTORY TAKING; METABOLISM, INBORN ERRORS; PHYSICAL EXAMINATION; RISK FACTORS;

EID: 27644527305     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.2005.072025     Document Type: Review

References (6)

1. Shevell MI, Ashwal S, Donley D, et al. Practice Parameter: Evaluation of the child with global developmental delay: Report of the quality standards subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2003;60:367-80.
2. Majnemer A, Shevell MI. Diagnostic yield of the neurologic assessment of the developmentally delayed child. J Pediatr 1995;127:193-9.
3. Curry CJ, Stevenson RE, Aughton D, et al. Evaluation of mental retardation: recommendations of a consensus conference: American College of Medical Genetics. Am J Med Genet 1997;72:468-77.
4. Gringras P. Choice of medical investigations for developmental delay: a questionnaire survey. Child Care Health Dev 1998;24:267-76.
5. Cleary MA, Wraith JE. Management of mucopolysaccharidosis type III. Arch Dis Child 1993;69:403-6.
6. Zytkovicz TH, Fitzgerald EF, Marsden D, et al. Tandem mass spectrometric analysis for amino, organic and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem 2001;46:1945-55.