BIG News - New Practice Guidelines On Genetic and Metabolic Evaluations in Developmental Delay

BIG News -  New Practice Guidelines On Genetic and Metabolic Evaluations in Developmental  Delay

Hopefully, this will help coverage for standard of care evaluations. JR

Benefits of Testing

• An etiologic diagnosis for GDD or ID only occasionally leads to a specific therapy that improves the child’s outcome; however, it often leads to other benefits for the child and the child’s family. These benefits include the following⁴:

• Relieving caregivers of anxiety and uncertainty
• Empowering caregivers to become involved in support and research networks
• Limiting further diagnostic testing that may be costly or invasive
• Improving understanding of treatment and prognosis
• Anticipating and managing associated medical and behavioral comorbidities
• Allowing for counseling regarding recurrence risk
• Preventing recurrence through screening for carriers and prenatal testing 

Clinical Context

• The evaluation of children with neurodevelopmental disabilities is evolving as previously unrecognized disease mechanisms are uncovered and novel and increasingly sensitive methods for diagnosis are introduced, improving etiologic yields.⁵ 
• Physicians who develop their familiarity with the clinical features and testing of genetic and metabolic disorders will likely be more efficient in their patient evaluations, ordering fewer tests rather than more.   
• Many children seen for GDD/ID do not present with syndromic features or a positive family history.
• Microarray is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. The resolution of the current generation of commercially available, genome-wide, oligonucleotide-based microarray testing is 700 base pairs, 30 to 40 times higher than the oligo-based tests previously used in studies of GDD/ID and 1000 times higher than older BAC-based microarrays. 
• Laboratories now offer single nucleotide polymorphism sensitive microarray that detects and describes consanguinity or uniparental disomy. Studies on the yield of these more advanced microarray tests are anticipated in the near future.

Patient Information
Clinical Pathway
Evidence Report: Genetic and metabolic testing on children with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology SocietyNeurology September 28, 2011WNL.0b013e3182345896; published ahead of print September 28, 2011,