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Tests and diagnosis

By Mayo Clinic staff

Diagnostic criteria
For a child to be diagnosed with childhood disintegrative disorder, he or she must meet the criteria in the Diagnostic and Statistical Manual of Mental Disorders (DSM) published by the American Psychiatric Association, summarized below. This manual is used by mental health providers to diagnose mental conditions and by insurance companies to reimburse for treatment.

Normal development for at least the first 2 years of life
Normal development includes age-appropriate verbal and nonverbal communication, social relationships, and motor, play and self-care skills.

Significant loss of previous skills
Loss of previous skills, after at least two years of normal development, in at least two of the following areas:

• Ability to say words or sentences (expressive language)
• Ability to understand verbal and nonverbal communication (receptive language)
• Social skills and self-care skills (adaptive behavior)
• Bowel and bladder control
• Play skills
• Motor skills (ability to voluntarily move the body in a purposeful way)

Lack or loss of normal function
Lack or loss of normal function occurs in at least two of the following areas:

• Social interaction. This may include a wide range of problems with social connectedness. Your child may have difficulty with nonverbal interactions, may not make friends with peers, and may lack the ability to share, recognize, understand and respond to others' social cues and feelings.
• Communication. This may include a delay or loss in the ability to speak or to start and maintain conversations. Your child also may use the same words over and over, and may not "get" imaginative or make-believe play.
• Repetitive and stereotyped patterns of behavior, interests and activities. Your child may flap his or her hands, rock or spin (motor stereotypes and mannerisms); may become attached to specific routines and rituals; or may have difficulty with transitions or changes in routine. Many children with the disorder develop a fixed posture or body position (catatonia) and may become preoccupied with certain objects or activities.

Screening
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.

If your doctor sees signs or symptoms of a developmental disorder or delay, your child may be referred to one or more specialists for evaluation and diagnosis. These may include 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 interview with special emphasis on when developmental milestones were reached and the age at which previously learned skills were lost. Baby books, family photo albums and videotapes may help you accurately remember when your child reached specific developmental milestones.
• Neurological exam. A neurologist performs a physical exam to look for abnormalities in your child's brain and nervous system. Your neurologist may order imaging tests of the brain and tests that measure the brain's electrical activity.
• 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 exam to check for hearing loss or hearing-related problems.
• Vision test. This exam 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 may also want your child to have several developmental tests to measure how your child performs skills compared with other children of the same age. These tests measure the following skills:

• Large motor skills. This includes walking, running, jumping, throwing and climbing.
• Fine motor skills. This is the use of 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 touch (tactile) experiences in the environment.
• Play skills. This involves how your child plays with toys and other objects as well as with 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 the ability to pay attention, follow directions, think, concentrate and solve problems.

Test results allow your health care team to look for underlying medical or neurological conditions that may be causing your child's signs and symptoms, rule out other conditions or diseases, and make an accurate diagnosis. Then the team can develop the best treatment plan for your child.

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