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Diagnosis

Diagnosis. Very important Helps to decide the treatment Starting adequate management/treatment Establishing the health maintenance plan Helps to establish recurrence risk Predicting prognosis. DEVELOPMENTAL DISORDER/ MENTAL RETARDATION. DYSMORPHIC OTHER NON NON

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Diagnosis

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  1. Diagnosis • Very important • Helps to decide the treatment • Starting adequate management/treatment • Establishing the health maintenance plan • Helps to establish recurrence risk • Predicting prognosis

  2. DEVELOPMENTAL DISORDER/MENTAL RETARDATION DYSMORPHIC OTHER NON NON NEURO SIGNS DYSMORPHIC Diagnosed unknown Karyotype Diagnosis Cherry red spot Hepatomegaly Diagnosed

  3. DEVELOPMENTAL DISORDER/MENTAL RETARDATION DYSMORPHIC OTHER NON NON NEURO SIGNS DYSMORPHIC • Microcephalic Normocephaic • Macrocephalic • Neuro signs + Neuro signs N • CT/MRI Metabolic work up Non Specific MR • Diagnose Diagnose Fragile X syndrome

  4. EPIDEMIOLOGY • MCA/MR syndrome 26% • (Chromosome and others) • Metabolic disorders 6% • CNS Developmental defects 16% • CP/Seizure/Hypotoni group 34% • Environmentally-Caused 13% • PureMR±Autism 5% Wisconsin study 1978

  5. Chromosomal (including fragile X) 30% • MCA syndrome 4-5% • Metabolic disorders 3-5% • CNS Developmental defects 10-15% • Aquired causes/ injuries 15-20% • Unknown cause 25-38% • McLaren & Bryson 1987

  6. summary 5 major causes of DD/MR • MCA syndrome • CNS Malformation • Metabolic disorder • Aquired conditions • “Pure/Non specific” MR

  7. RATIONALE EVALUATION OF DD/MR Clinical Evaluation • 3 generation pedigree • Pre, peri, post natal history • Physical examination (Minor anomaly) • Neurological evaluation • Assessment of behavioral phenotype

  8. Laboratory testing • CBC • Blood sugar • Serum calcium • Serum inorganic phosphorus • Creatinine in plasma & urine (Increased level on creatinine found in urine and plasma in X linked creatinine-transporter gene (SLC6A8) defect – mild MR, severe speech delay, hypotonia) • Metabolic testing – as indicated by clinical examination • Urine ferric chloride test • Urine DPNH test • Amino acid profile in urine / plasma

  9. Laboratory testing • SPECT HMPAO/ ECD • Karyotyping • Fish analysis • Fibroblast karyotype • Fragile X in both male and female • Neuroimaging • Fundus examination

  10. Laboratory testing • Arginine:Glycine amidinotransferase deficiency: • (Mild MR. Severe speech delay, with normal examination/OFC and blood creatinine levels. MRS disclosed the total absence of creatinine/phosphocreatinine peak in multiple brain areas Creatinine monohydrate oral administration restored brain creatinine levels along with improvement of the patient disability

  11. X linked Mental retardation • 5 – 14% of MR • 130 X – Linked syndromes • MRX – 75 gene loci • Fragile X ¼ - 6,000 males • Am J Med Genet 2000, 97 (3):1

  12. Good indicators for subtelomeric defects • Family history of MR • Prenatal onset of growth retardation • Post natal poor growth/over growth • 2 or more facial dysmorphic features • 1 or more non facial dysmorphic features and/or congenital abnormalities

  13. Differential diagosis DD/MR Physical, neurological examination Normal finding abnormal finding Do Karyotyping/DNA fra(X) 47,xxy,fra (x) Normal results Idiopathic MR

  14. DD/MRPhysical, Neurological examinationAbnormal finding with No major, minor anomaly

  15. DD/MRPhysical, Neurological examinationAbnormal finding with major, minor anomaly i.e MCA/MR Subtelomeric Chromosome Diagnosis Normal results Idiopathic MCA/MR

  16. RATIONALE EVALUATION OF DD/MR CONCLUSIONS • Through physical examination + awareness of the existence of definite patterns of malformations Newer diagnostic techniques Diagnosis

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