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Metabolic evaluation of children with global developmental delay.

Eun SH, Hahn SH - Korean J Pediatr (2015)

Bottom Line: Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients.Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known.Appropriate and cost-effective strategies including up-to-date information for the early identification of the "treatable" causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.

ABSTRACT
Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients. Inborn metabolic errors are one of the main targets for the treatment of GDD, although only a small proportion of GDD patients have this type of error. Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known. Appropriate and cost-effective strategies including up-to-date information for the early identification of the "treatable" causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes.

No MeSH data available.


Related in: MedlinePlus

An approach to inherited metabolic diseases with chronic encephalopathy. CNS, central nervous system; MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome; MPS, mucopolysaccharidosis. Adapted from Clarke. A clinical guide to inherited metabolic diseases. 2006:337).
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Figure 2: An approach to inherited metabolic diseases with chronic encephalopathy. CNS, central nervous system; MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome; MPS, mucopolysaccharidosis. Adapted from Clarke. A clinical guide to inherited metabolic diseases. 2006:337).

Mentions: Age at onset and clinical course often provide important clues to the metabolic nature of the disease, and the involvement of other organs is frequent. The major affected areas outside the central nervous system include organs such as the liver and spleen, as well as the muscles, bones, skin, and connective tissues (Fig. 2). An initial evaluation for children with undifferentiated developmental delay includes thorough developmental assessment and neurological examination, brain imaging, electrophysiological studies (auditory brainstem responses, visual evoked potentials, somatosensory evoked potentials, nerve conduction studies, electromyogram), radiographs of the hands, chest, and lateral view of the spine for evidence of dysostosis multiplex, plasma amino acid analysis, urinary amino acid analysis, urinary organic acid analysis, even in the absence of overt metabolic acidosis, plasma ammonium, preferably two hours after a normal meal of protein-containing food, plasma lactate, urinary MPS screening, and urinary oligosaccharide screening test. It also includes tests for determining the extent and degree of neurological damage, ensuring that the early stages of some treatable IEM are not missed, and establishing a baseline for monitoring the natural history of the disease 7).


Metabolic evaluation of children with global developmental delay.

Eun SH, Hahn SH - Korean J Pediatr (2015)

An approach to inherited metabolic diseases with chronic encephalopathy. CNS, central nervous system; MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome; MPS, mucopolysaccharidosis. Adapted from Clarke. A clinical guide to inherited metabolic diseases. 2006:337).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4414625&req=5

Figure 2: An approach to inherited metabolic diseases with chronic encephalopathy. CNS, central nervous system; MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome; MPS, mucopolysaccharidosis. Adapted from Clarke. A clinical guide to inherited metabolic diseases. 2006:337).
Mentions: Age at onset and clinical course often provide important clues to the metabolic nature of the disease, and the involvement of other organs is frequent. The major affected areas outside the central nervous system include organs such as the liver and spleen, as well as the muscles, bones, skin, and connective tissues (Fig. 2). An initial evaluation for children with undifferentiated developmental delay includes thorough developmental assessment and neurological examination, brain imaging, electrophysiological studies (auditory brainstem responses, visual evoked potentials, somatosensory evoked potentials, nerve conduction studies, electromyogram), radiographs of the hands, chest, and lateral view of the spine for evidence of dysostosis multiplex, plasma amino acid analysis, urinary amino acid analysis, urinary organic acid analysis, even in the absence of overt metabolic acidosis, plasma ammonium, preferably two hours after a normal meal of protein-containing food, plasma lactate, urinary MPS screening, and urinary oligosaccharide screening test. It also includes tests for determining the extent and degree of neurological damage, ensuring that the early stages of some treatable IEM are not missed, and establishing a baseline for monitoring the natural history of the disease 7).

Bottom Line: Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients.Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known.Appropriate and cost-effective strategies including up-to-date information for the early identification of the "treatable" causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.

ABSTRACT
Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients. Inborn metabolic errors are one of the main targets for the treatment of GDD, although only a small proportion of GDD patients have this type of error. Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known. Appropriate and cost-effective strategies including up-to-date information for the early identification of the "treatable" causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes.

No MeSH data available.


Related in: MedlinePlus