‘Therapeutic yield’ is gaining on pure diagnostics as grounds for testing in this rapidly evolving field, and children with suspected GDD/ID are sure to benefit from the newer approaches described here.The following recommendations are based on evidence-based clinical practice guidelines and expert opinion.This position statement has been reviewed by the Community Paediatrics Committee and the Early Years Task Force of the Canadian Paediatric Society.© 2020 Canadian Paediatric Society. Please enable scripts and reload this page. Etiologies of both conditions are highly heterogeneous. Any conflicts have been resolved through a process approved by the Board of Directors. By contrast, other pathways propose an approach based on checklists and likelihood ratio models, stopping investigation when the clinician feels that it would not alter outcome, even without a diagnosis In one recent review, an etiological diagnosis based on history and physical examination was found in 12.5% to 38.6% of cases The use of chromosome microarray (CMA, also referred to as comparative genomic hybridization or CGH) as a first-line investigation in children with GDD/ID, is endorsed by the AAP, the AAN, the International Standard Cytogenetic Array and the American College of Medical Genetics The use of standard karyotyping is not recommended as a first-line test, because its sensitivity is less than one-half that of CMA in children diagnosed with GDD/ID. In the early techniques, 2 genomes were cohybridized, typically onto a glass microscope slide on which cloned or synthesized control DNA fragments had been immobilized. 0000009202 00000 n Consider biotinidase testing when severe hypotonia, seizures are present.Hypothyroidism is a common, reversible cause of GDD/ID, with an incidence of approximately 1 out of 3,500 live births. For more information, please call 901-287-7337.

The American Academy of Pediatrics, the American Academy of Neurology and the British Columbia-based Treatable Intellectual Disability Endeavor (TIDE) protocol have each proposed multitiered investigations of GDD/ID to guide physicians toward an understanding of etiology that optimizes therapeutic yield.

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“developmental assessment”, “developmental delay”, “disability”, “mental retardation”, “developmental screening tools”, “screening”, and “diagnosis”.

This protocol does not address these patients; manage and refer as per local circumstances.As above are arranged and completed and negative, refer to medical genetics and hold on additional diagnostic testing until consultation completed. Because the clinical phenotype is often nonspecific in infants and young children with Fragile X, AAP and AAN guidelines both recommend that Fragile X DNA (FMR1) testing be considered as part of first-line investigation for boys and girls with GDD/ID as defined in the DSM-5 Rett syndrome is found in 1.5% of girls with moderate-to-severe ID Whole-exome sequencing permits analysis of coding regions for known genes and the identification of causal mutations in up to 40% of patients with severe ID Red flags suggestive of an inborn error of metabolism (IEM) are listed in While rapid access to a clinical geneticist or metabolic specialist for an evaluation identifying the most probable IEM would be ideal, it is not a reality in most of Canada. An electroencephalogram is justified when there is clinical suspicion of seizures, speech regression or neurodegenerative disorder A stepwise approach, based on the AAP’s 2014 policy statement, AAN’s 2011 guidelines and the TIDE protocol, with some modifications arising from the literature and expert consensus, is outlined above (GDD and ID are common disorders in children, and paediatricians are often involved in the etiological workup needed for diagnosis and next steps.

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Current recommendations range from performing brain imaging on all patients with GDD/ID,Early studies on the use of CT in the evaluation of children with idiopathic IDIf neuroimaging is performed in only selected cases, such as children with an abnormal head circumference or an abnormal focal neurologic finding, the rate of abnormalities detected is increased further than when used on a screening basis in children with a normal neurologic examination except for the documentation of developmental delay. The AAP recommends that developmental monitoring should be a part of every well-child preventive care visit.

The goals and the process of the diagnostic evaluation are unchanged: to improve the health and well-being of those with GDD/ID. 2020 Developmental-Behavioral Pediatrics Course: An Intensive Clinical Update for Primary and Sub-specialty Care. These panels examine many genes in 1 “test sample.” The problem for the clinical evaluation is in which patient to use which test panel, because there is no literature on head-to-head performance of test panels, and the test panels differ somewhat by genes included, test methods used, and the rate of a true pathogenic genetic diagnosis. 0000008602 00000 n 0000021035 00000 n The Developmental Delays Program Developmental delay is one of the most frequent problems we see in the Division of Pediatric Neurology. If “yes,” measure parental head circumferences and review the family history for affected and unaffected members. 0000029815 00000 n

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