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Symptoms » Mental retardation » Diagnostic Tests
 

Diagnostic Tests for Mental retardation

Diagnostic Test list for Mental retardation:

The list of diagnostic tests mentioned in various sources as used in the diagnosis of Mental retardation includes:

  • General appearance
    • Looking for any characteristic dysmorphic ( abnormality of shape) features of face and body - e.g. Down syndrome, Cornelia de Lange syndrome, Prader-Willi syndrome, Soto's syndrome.
    • Observe the child's behavior and interaction with yourself. If child is alert, interested in new objects, keen to explore and relates in a friendly manner, a developmental problem is more likely because of an isolated condition rather than global retardation
  • Physical examination
    • Growth - including head circumference.
    • Observe infant health clinic booklet - to check growth patterns of weight, height and head circumference.
    • Examine for any skin pigment abnormalities - e.g. tuberous sclerosis is characterized by patches of hypopigmentation; decreased skin pigment may also suggest phenylketonuria; neurofibromatosis is characterized by large numbers of café au lait spots (localized area of hyperpigmentation); Sturge-Weber syndrome is characterized by a unilateral port wine colored lesion over one side of the face.
    • Inspect for abnormal secondary sexual characteristics. These findings would suggest Klinefelter's syndrome, Turner's syndrome and Laurence-Moon_bardet-Biedl syndrome
    • Examine for any abnormalities of the skull. Findings of any deformities or enlargement of the skull may suggest rickets, microcephaly, hypertelorism (abnormal distance between two paired organs), oxycephaly and hydrocephalus
    • Abdominal examination feeling for an enlarged liver or spleen which may suggest galactosemia, Hurler's disease, Gaucher's disease
    • Assessment of vision and hearing
    • Neurological examination to look for focal neurological signs and papilledema. Abnormalities may suggest Tay-Sachs disease, congenital syphilis, Arnold-Chiari malformation and cerebral diplegia
  • Blood tests
    • Full blood count and ESR
    • Biochemistry
    • Thyroid function tests
    • Cytogenetics for karyotyping - e.g. looking for genetic syndromes e.g. Down's syndrome, Fragile-X syndrome, Klinefelter's syndrome.
    • Serology for congenital infections in a child - (e.g. rubella, toxoplasmosis).
    • Serum Creatinine phosphokinase in child not walking be 18 months if suspect Duchenne muscular dystrophy
    • Serum galactose, if suspect galactosemia
    • Syphilis serology, if suspected
  • Urine tests
    • Urine metabolic screening in children if suspect metabolic and storage diseases (screen for carbohydrates, amino acids and organic acids)
  • Radiological investigations
    • CT scan or MRI brain can detect many different causes of mental retardation
    • Skull X-Ray - if there are deformities of the skull.
  • IQ test
  • Denver developmental screening test in children - compares all aspects of a child's development with a population of normal children at the same age.
  • Electroencephalogram (EEG) - to detect associated epilepsy.

Home Diagnostic Testing

These home medical tests may be relevant to Mental retardation causes:


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