Evaluating a Child with Partial Developmental Delay (ParDD), Global Developmental Delay (GDD)/Mental Retardation (MR): Clinical Expertise Based or Evidence-Based?
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作者:
Wong, Virginia C. N.
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Univ Hong Kong, Div Neurodev Paediat, Hong Kong, Hong Kong, Peoples R ChinaUniv Hong Kong, Div Neurodev Paediat, Hong Kong, Hong Kong, Peoples R China
Wong, Virginia C. N.
[1
]
Chung, Brian H. Y.
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Univ Hong Kong, Div Neurodev Paediat, Hong Kong, Hong Kong, Peoples R ChinaUniv Hong Kong, Div Neurodev Paediat, Hong Kong, Hong Kong, Peoples R China
Chung, Brian H. Y.
[1
]
机构:
[1] Univ Hong Kong, Div Neurodev Paediat, Hong Kong, Hong Kong, Peoples R China
Developmental delay (DD) is a commonly encountered clinical problem. Nearly most children with neurodevelopmental disorders present with developmental delay. The ultimate diagnosis may take months or even years to be confirmed. The final verdict may be purely developmental with a benign outcome, or there might be slow deterioration ending up in a more sinister cause like neurodegenerative diseases. At times, the developmental course might plateau off with the final developmental outcome underachieved. With standardized assessment at a later age, these children could then be labeled as suffering from "mental retardation' (MR) or "intellectual disability" (ID). Thus, the crucial issue during the process of making the final diagnosis for any child presenting with developmental delay is when can one decide that an etiological diagnosis can confidently be made during the phase of development. When can one be really sure that there is no underlying organic cause to account for the developmental delay. Often than not, the clinician is faced with the dilemma of how exhaustive one should persue in investigating a case of DD, and when to stop investigating further. It is very important for us to develop a logical and practical approach in managing these DD children at the "first" presentation and to establish one's clinical judgment to find the " Best timing" for referral or diagnostic workup. The first step to the approach is the awareness and the differentiation of Partial Developmental Delay (ParDD) from Global Developmental Delay (GDD). We aim to provide the readers an understanding of a practical and evidence based approach for the diagnostic evaluation of a child with DD/MR. We hope this approach can help to improve the diagnostic yield of DD/MR.
机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Kaminsky, Erin B.
Kaul, Vineith
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Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Kaul, Vineith
Paschall, Justin
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Natl Ctr Biotechnol Informat, Bethesda, MD USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Paschall, Justin
Church, Deanna M.
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Natl Ctr Biotechnol Informat, Bethesda, MD USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Church, Deanna M.
Bunke, Brian
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Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Bunke, Brian
Kunig, Dawn
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Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Kunig, Dawn
Moreno-De-Luca, Daniel
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Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Moreno-De-Luca, Daniel
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Moreno-De-Luca, Andres
Mulle, Jennifer G.
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Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Mulle, Jennifer G.
Warren, Stephen T.
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Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Emory Univ, Sch Med, Dept Pediat, Atlanta, GA 30322 USA
Emory Univ, Sch Med, Dept Biochem, Atlanta, GA 30322 USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Warren, Stephen T.
Richard, Gabriele
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GeneDx, Gaithersburg, MD USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Richard, Gabriele
Compton, John G.
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GeneDx, Gaithersburg, MD USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Compton, John G.
Fuller, Amy E.
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GeneDx, Gaithersburg, MD USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Fuller, Amy E.
Gliem, Troy J.
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Mayo Clin, Coll Med, Dept Lab Med & Pathol, Rochester, MN USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Gliem, Troy J.
Huang, Shuwen
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Salisbury Dist Hosp, Wessex Reg Genet Lab, Natl Genet Reference Lab Wessex, Salisbury, Wilts, EnglandEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Huang, Shuwen
Collinson, Morag N.
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机构:Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Collinson, Morag N.
Beal, Sarah J.
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机构:Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Beal, Sarah J.
Ackley, Todd
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Michigan Med Genet Labs, Ann Arbor, MI USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Ackley, Todd
Pickering, Diane L.
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Univ Nebraska, Med Ctr, Human Genet Lab, Omaha, NE USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Pickering, Diane L.
Golden, Denae M.
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Univ Nebraska, Med Ctr, Human Genet Lab, Omaha, NE USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Golden, Denae M.
Aston, Emily
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Univ Utah, Sch Med, Salt Lake City, UT USA
ARUP Labs, Salt Lake City, UT USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Aston, Emily
Whitby, Heidi
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Univ Utah, Sch Med, Salt Lake City, UT USA
ARUP Labs, Salt Lake City, UT USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Whitby, Heidi
Shetty, Shashirekha
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Univ Utah, Sch Med, Salt Lake City, UT USA
ARUP Labs, Salt Lake City, UT USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Shetty, Shashirekha
Rossi, Michael R.
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Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Rossi, Michael R.
Rudd, M. Katharine
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Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Rudd, M. Katharine
South, Sarah T.
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Univ Utah, Sch Med, Salt Lake City, UT USA
ARUP Labs, Salt Lake City, UT USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
South, Sarah T.
Brothman, Arthur R.
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Univ Utah, Sch Med, Salt Lake City, UT USA
ARUP Labs, Salt Lake City, UT USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Brothman, Arthur R.
Sanger, Warren G.
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Univ Nebraska, Med Ctr, Human Genet Lab, Omaha, NE USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Sanger, Warren G.
Iyer, Ramaswamy K.
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Michigan Med Genet Labs, Ann Arbor, MI USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Iyer, Ramaswamy K.
Crolla, John A.
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Salisbury Dist Hosp, Wessex Reg Genet Lab, Natl Genet Reference Lab Wessex, Salisbury, Wilts, EnglandEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Crolla, John A.
Thorland, Erik C.
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Mayo Clin, Coll Med, Dept Lab Med & Pathol, Rochester, MN USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Thorland, Erik C.
Aradhya, Swaroop
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GeneDx, Gaithersburg, MD USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Aradhya, Swaroop
Ledbetter, David H.
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Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Ledbetter, David H.
Martin, Christa L.
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Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USAEmory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
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Loma Linda Univ, Sch Med, Dept Pediat, Loma Linda, CA USA
Loma Linda Univ, Sch Med, Dept Neurol, Loma Linda, CA USALoma Linda Univ, Sch Med, Dept Pediat, Loma Linda, CA USA
Michelson, D. J.
Shevell, M. I.
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McGill Univ, Dept Neurol, Montreal, PQ H3A 2T5, Canada
McGill Univ, Dept Neurosurg, Montreal, PQ H3A 2T5, Canada
McGill Univ, Dept Pediat, Montreal, PQ H3A 2T5, CanadaLoma Linda Univ, Sch Med, Dept Pediat, Loma Linda, CA USA
Shevell, M. I.
Sherr, E. H.
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Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA
Univ Calif San Francisco, Dept Pediat, San Francisco, CA USALoma Linda Univ, Sch Med, Dept Pediat, Loma Linda, CA USA
Sherr, E. H.
Moeschler, J. B.
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Dartmouth Hitchcock Med Ctr, Div Med Genet, Dept Pediat, Lebanon, NH 03766 USALoma Linda Univ, Sch Med, Dept Pediat, Loma Linda, CA USA
Moeschler, J. B.
Gropman, A. L.
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George Washington Univ, Dept Pediat, Sch Med & Hlth Sci, Childrens Natl Med Ctr, Washington, DC 20052 USA
George Washington Univ, Dept Neurol, Sch Med & Hlth Sci, Childrens Natl Med Ctr, Washington, DC USALoma Linda Univ, Sch Med, Dept Pediat, Loma Linda, CA USA
Gropman, A. L.
Ashwal, S.
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Loma Linda Univ, Sch Med, Dept Pediat, Loma Linda, CA USA
Loma Linda Univ, Sch Med, Dept Neurol, Loma Linda, CA USALoma Linda Univ, Sch Med, Dept Pediat, Loma Linda, CA USA