Childhood disintegrative disorder

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Tests and diagnosis

By Mayo Clinic staff

Your child's doctor should perform developmental screenings at well-child visits or if you suspect that there's a delay in your child's development or a loss of age-appropriate skills. The purpose of a developmental screening is to identify whether your child has the signs or symptoms of a developmental delay and needs referral for a comprehensive evaluation.

Developmental screening tools are designed to use parent reports and observations along with direct observations by a doctor of your child's language, social, motor, play and self-help skills to determine if they're developing normally.

If your doctor sees signs or symptoms of a developmental disorder or delay during the screening, your child will be referred to a specialist for a formal evaluation and diagnosis. Further referrals may be needed as a result of this evaluation.

A formal and comprehensive evaluation is performed by a team of doctors and health care specialists that usually includes a child psychologist, a child psychiatrist, a doctor who specializes in conditions of the brain and nervous system (neurologist), a pediatrician specializing in behavioral and developmental problems, a hearing specialist (audiologist), a speech therapist, a physical therapist and an occupational therapist.  These professionals may perform some or all of the following tests:

  • Medical history. This is an extensive birth, developmental, medical and family health history with special emphasis on when developmental milestones were reached and the age at which previously learned skills were lost. You may find it helpful to look at baby books, family photo albums and videotapes so that you can accurately remember when your child reached specific developmental milestones.
  • Neurological examination. A neurologist performs a physical examination to look for abnormalities in your child's brain and nervous system. Your neurologist may order tests including computerized tomography (CT), magnetic resonance imaging (MRI) and an electroencephalogram (EEG). CT and MRI are imaging techniques that provide doctors with pictures of the brain's anatomy. An EEG is a test that measures the brain's electrical activity to determine the presence of seizures.
  • Genetic tests. These tests usually involve a blood test to study your child's chromosomes and determine if there's an inherited family condition or disease.
  • Communication and language tests. In-depth tests can measure how your child communicates with words and nonverbal gestures (facial expressions, posture, rhythm of speech, gestures) and how your child interacts with others (understanding words, body language, social cues, tone of voice).
  • Lead screening. A blood test is performed to check for lead poisoning. Lead exposure in children causes damage to the nervous system, developmental delays, hearing loss and behavior problems.
  • Hearing (audiology) test. This is an examination to check for hearing loss or hearing-related problems.
  • Vision test. This examination checks for vision loss or vision-related problems.
  • Behavior inventory. Doctors use formal rating scales and checklists to document the occurrence of specific behaviors such as repetitive movements, oversensitive or undersensitive responses to normal sights, sounds and touch sensations in the environment as well as social interactions and play skills.

Developmental tests
Your doctor will also want to have your child undergo a number of developmental tests to measure how your child performs skills compared with other children of the same age. These tests will measure the following skills:

  • Large-motor skills. This includes walking, running, jumping, throwing and climbing.
  • Fine-motor skills. This is the use of the hands and fingers for the manipulation of small objects such as buttons, pencils and scissors.
  • Sensory skills. This is how the brain and body organize and respond to a variety of everyday sounds, sights, smells, tastes and tactile (touch) experiences in the environment.
  • Play skills. This involves how your child plays with toys and other objects as well as children and adults. The style and type of play behavior (imaginative, varied, purposeful, goal-directed) are observed.
  • Self-care skills. These skills include toileting, feeding, dressing and brushing teeth.
  • Cognitive skills. These skills include attention, following directions, thinking, concentration and problem-solving abilities.

The results of your child's tests will allow your health care team to look for any underlying medical or neurological conditions that may be causing your child's signs and symptoms, rule out other conditions or diseases that may share the same features as childhood disintegrative disorder, and make an accurate diagnosis. An accurate diagnosis helps the team of health professionals develop the best treatment plan for your child.

DS00801

Sept. 16, 2008

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