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American Academy of Pediatrics

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From the American Academy of PediatricsClinical Report

Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays

John B. Moeschler, Michael Shevell and COMMITTEE ON GENETICS
Pediatrics September 2014, 134 (3) e903-e918; DOI: https://doi.org/10.1542/peds.2014-1839
John B. Moeschler
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Michael Shevell
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    FIGURE 1

    Diagnostic process and care planning. Metabolic test 1: blood homocysteine, acylcarnitine profile, amino acids; and, urine organic acids, glycosaminoglycans, oligosaccharides, purines, pyrimidines, GAA/creatine metabolites. Metabolic test 2 based on clinical signs and symptoms. FH, family history; MH, medical history; NE, neurologic examination; PE, physical and dysmorphology examination.

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    TABLE 1

    The Purposes of the Comprehensive Medical Genetics Evaluation of the Young Child With GDD or ID

    1. Clarification of etiology
    2. Provision of prognosis or expected clinical course
    3. Discussion of genetic mechanism(s) and recurrence risks
    4. Refined treatment options
    5. Avoidance of unnecessary or redundant diagnostic tests
    6. Information regarding treatment, symptom management, or surveillance for known complications
    7. Provision of condition-specific family support
    8. Access to research treatment protocols
    9. Opportunity for comanagement of appropriate patients in the context of a medical home to ensure the best health, social, and health care services satisfaction outcomes for the child and family
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    TABLE 2

    Metabolic Screening Tests

    SpecimenaTestNotes
    BloodAmino acidsSee Table 3
    Homocysteine
    Acylcarnitine profile
    UrineOrganic acids
    GAA/creatine metabolites
    Purines and pyrimidines
    Mucopolysaccharide screen
    Oligosaccharide screen
    • See Fig 1.

    • ↵a Serum lead, thyroid function studies not included as “metabolic tests” and to be ordered per clinician judgment.

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    TABLE 3

    Metabolic Conditions Identified by Tests Listed

    PAAsP-HCYAcylcarnUOAUPPUGAA/CrUMPSUOligo
    Argininosuccinic aciduriaaCobalamin C deficiencyCobalamin C deficiencyβ-ketothiolase deficiencyPyrimidine 5′nucleotidase superactivityAGAT deficiencyHurlerα-mannosidosis
    CitrullinemiaaCobalamin D deficiencyCobalamin D deficiencyCobalamin A deficiencyMolybdenum cofactor type A deficiencyGAMT deficiencyHunterAspartylglucosaminuria
    Citrullinemia, type IIaCobalamin F deficiencyCobalamin F deficiencyCobalamin B deficiencyCreatine transporter defectSanfilippo A, B, C
    CPS deficiencyaCobalamin E deficiencyEthylmalonic encephalopathyCobalamin C deficiencySly (MPS VI)
    ArgininemiaaCobalamin G deficiencyIsovaleric acidemiaaCobalamin D deficiency
    HHH syndromeMTHFR deficiencya3-methylcrotonyl glycinuriaCobalamin F deficiency
    Maple syrup urine disease, variantHomocystinuriaPPAaEthylmalonic encephalopathy
    NAGS deficiencyaTyrosinemia, type IIGA, type I
    MTHFR deficiencyaGA, type II
    OTC deficiencyaHMG-CoA Lyase deficiency
    PKUHolocarboxylase synthetase deficiency
    PDH complex deficiencyHomocystinuria
    Tyrosinemia, type IIIsovaleric acidemiaa
    3-methylcrotonyl glycinuria
    3-methylglutaconic aciduria
    MMAa
    MHBD deficiency
    PPAa
    SCOT deficiency
    SSADH deficiency
    Tyrosinemia, type II
    • Adapted from van Karnebeek and Stockler.41

    • Acylcarn, acylcarnitine profile; CPS, carbamyl phosphate synthetase; GA, glutaric acidemia; HHH, hyperornithinemia-hyperammonemia-homocitrullinuria; HMG-CoA, 3-hydroxy-3-methylglutaryl-coenzyme A; MHBD, 2-methyl-3-hydroxybutyryl CoA dehydrogenase; MMA, methylmalonic acidemia; MTHFR, methylenetetrahydrofolate reductase; NAGS, N-acetylglutamate synthase; OTC, ornithine transcarbamylase; PAA, plasma amino acids; PDH, pyruvate dehydrogenase; P-HCY, plasma homocysteine; PKU; phenylketonuria; PPA, propionic acid; SCOT, succinyl-CoA:3-ketoacid CoA transferase; SSADH, succinic semialdehyde dehydrogenase; UGAA/creat; urine guanidino acid/creatine metabolites; UMPS, urine mucopolysaccharides qualitative screen (glycosaminoglycans); UOA, urine organic acids; UOGS, urine oligosaccharides; UPP, urine purines and pyrimidines.

    • ↵a Late-onset form of condition listed; some conditions are identified by more than 1 metabolic test.

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    TABLE 4

    Common Recognizable XLID Syndromes

    SyndromeCommon ManifestationsGene, Location
    Aarskog syndromeShort stature, hypertelorism, downslanting palpebral fissures, joint hyperextensibility, shawl scrotumFGD1, Xp11.21
    AdrenoleukodystrophyVariable and progressive vision and hearing loss, spasticity, neurological deterioration associated with demyelination of the central nervous system and adrenal insufficiencyABCD1, Xq28
    Aicardi syndromeAgenesis of the corpus callosum, lacunar chorioretinopathy, costovertebral anomalies, seizures in females_____, Xp22
    Allan–Herndon syndromeGeneralized muscle hypoplasia, childhood hypotonia, ataxia, athetosis, dysarthria, progressing to spastic paraplegiaMCT8 (SLC16A2), Xq13
    ARX-related syndromes (includes Partington, Proud, West, XLAG syndromes and nonsyndromal XLMR)Partington: dysarthria, dystonia, hyperreflexia, seizures. West: infantile spasms, hypsarrhythmia. Proud: microcephaly, ACC, spasticity, seizures, ataxia, genital anomalies. XLAG: lissencephaly, seizures, genital anomaliesARX, Xp22.3
    ATRX syndrome (includes ARTX, Chudley–Lowry, Carpenter–Waziri, Holmes–Gang, and Martinez spastic paraplegia syndromes and nonsyndromal XLMR)Short stature, microcephaly, hypotonic facies with hypertelorism, small nose, open mouth and prominent lips, brachydactyly, genital anomalies, hypotonia, in some cases hemoglobin H inclusions in erythrocytesXNP, (XH2) Xq13.3
    Christianson syndromeShort stature, microcephaly, long narrow face, large ears, long straight nose, prominent mandible, general asthenia, narrow chest, long thin digits, adducted thumbs, contractures, seizures, autistic features, truncal ataxia, ophthalmoplegia, mutism, incontinence, hypoplasia of the cerebellum, and brain stemSLC9A6, Xq26
    Coffin–Lowry syndromeShort stature, distinctive facies, large soft hands, hypotonia, joint hyperextensibility, skeletal changesRSK2, Xp22
    Creatine transporter deficiencyNondysmorphic, autistic, possibly progressiveSLC6A8, Xq28
    Duchenne muscular dystrophyPseudohypertrophic muscular dystrophyDMD, Xp21.3
    Fragile X syndromeProminent forehead, long face, recessed midface, large ears, prominent mandible, macroorchidismFMR1, Xq27.3
    Hunter syndromeProgressive coarsening of face, thick skin, cardiac valve disease, joint stiffening, dysostosis multiplexIDS, Xq28
    Incontinentia pigmentiSequence of cutaneous blistering, verrucous thickening, and irregular pigmentation. May have associated CNS, ocular abnormalitiesNEMO (IKB6KG), Xq28
    Lesch–Nyhan syndromeChoreoathetosis, spasticity, seizures, self-mutilation, uric acid urinary stonesHPRT, Xq26
    Lowe syndromeShort stature, cataracts, hypotonia, renal tubular dysfunctionOCRL, Xq26.1
    MECP2 duplication syndromeHypotonia, progressing to spastic paraplegia, recurrent infectionsMECP2, Xq28
    Menkes syndromeGrowth deficiency, full cheeks, sparse kinky hair, metaphyseal changes, limited spontaneous movement, hypertonicity, seizures, hypothermia, lethargy, arterial tortuosity, death in early childhoodATP7A, Xpl3.3
    Pelizaeus–Merzbacher diseaseNystagmus, truncal hypotonia, progressive spastic paraplegia, ataxia, dystoniaPLP, Xq21.1
    Renpenning syndrome (includes Sutherland–Haan, cerebropalatocardiac, Golabi–Ito–Hall, Porteous syndromeShort stature, microcephaly, small testes. May have ocular or genital abnormalitiesPQBP1, Xp11.3
    Rett syndromeXLMR in girls, cessation and regression of development in early childhood, truncal ataxia, autistic features, acquired microcephalyMECP2, Xq28
    X-linked hydrocephaly-MASA spectrumHydrocephalus, adducted thumbs, spastic paraplegiaL1CAM, Xq28
    • Reproduced with permission from Stevenson and Schwartz.46

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Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
John B. Moeschler, Michael Shevell, COMMITTEE ON GENETICS
Pediatrics Sep 2014, 134 (3) e903-e918; DOI: 10.1542/peds.2014-1839

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Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
John B. Moeschler, Michael Shevell, COMMITTEE ON GENETICS
Pediatrics Sep 2014, 134 (3) e903-e918; DOI: 10.1542/peds.2014-1839
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    • Abstract
    • Intellectual Disability
    • Chromosome Microarray
    • Screening for Inborn Errors of Metabolism
    • Genetic Testing for Mendelian Disorders
    • Male Gender
    • Genetic Testing for Nonspecific XLID
    • Boys With Suspected or Known XLID
    • Female Gender and MECP2 Testing
    • Advances in Diagnostic Imaging
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