Medical Workup of Children

Medical Workup of Children with Autistic Disorder

Physical examination (include measurement of head circumference, examination for minor physical anomalies and inspection of skin for adenoma sebaceum and hypo- and hyperpigmented areas)

  • Neurological examination
  • Neuropsychological testing
  • Hearing test
  • Test of visual acuity
  • Magnetic resonance imaging (MRI)
  • Electroencephalogram (EEG)
  • Cytogenetic study for chromosomal abnormalities, including fragile X screen
  • Blood lead level
  • Blood tests for inborn errors of metabolism, including phenylalanine and uric acid levels
  • 24-hour urine collection for mucopolysaccharidoses, uric acid, calcium

Nonverbal communication is also impaired. Autistic children often do not use body gestures to communicate; they may not shake their head no or nod yes or wave good-bye. They are especially deficient in using expressive gestures to communicate their own emotional state or to acknowledge the emotional states of others such as by giving a pat on the back to give comfort, shrugging the shoulders to express resignation, or raising the eyebrows to convey suspicion.

Delays, deficits, and abnormalities in play are seen in autistic children. Play is stereotyped and repetitive and not creatively elaborated. Instead of building with blocks, autistic children may determinedly line them in rows. Instead of creating and elaborating imaginary roles, they may repetitively mimic a character from a television show. Autistic children show deficits in imaginative activity at different levels of symbolization. Some children never play appropriately with toys: Instead of pretending to dress or feed a doll, the child may bang it on a table; instead of rolling a toy truck along the ground, the autistic child may spin its wheels. Other autistic children are not as oblivious to the representational nature of toys and may play with them appropriately. More impaired is the ability to substitute one object for another, particularly if the substitute object bears no physical resemblance to the represented object (for example, using a stick to represent a horse).

Markedly restricted repertoire of activities and interests

Autistic children resist change in their environment and new routines. For example, the child may exhibit distress if the usual route to the supermarket is not taken or the bowl he or she is accustomed to eating from is not provided. New toys may be avoided for weeks. They may impose routines on others; one boy would cry if, when climbing up stairs, his mother did not start with her right foot. They may insist that parents repeat certain words or phrases. Interests are narrow, often idiosyncratic, and repetitive. For example, autistic children may spend hours flipping light switches, spinning bottles, watching sand flow through their fingers, collecting sticks, or memorizing the subway routes in the city. They may become attached to unusual objects and refuse to leave the house without them, as exemplified by the boy who carried around a dustpan. Children may not use objects correctly and instead may be preoccupied with parts of the object or with its sensory characteristics and may smell, mouth, or stroke the object.

Stereotypies are present in almost all autistic children and may include jumping up and down and hand flapping when excited, wiggling their fingers in front of their eyes, body rocking, or grimacing. They may enjoy spinning objects, twirling, and watching fans or washing machines rotate.

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