Handbook of Genetic Counseling/Autism-3

Autism (and/or Asperger Disorder)

Contracting edit

  • Introductions, acknowledge any prior contact
  • Assess main concerns of patient
  • Why are they visiting Genetics today?
  • What do they hope to gain from the session?
  • Assess knowledge of diagnosis
  • Overview of today's session
  • Restate patient's concerns
  • Medical history, family history, diagnosis, genetics, recurrence risk, testing options and limitations

Pediatric Intake edit

  • Pregnancy and Medical History
    • focus on possible rubella during pregnancy, PKU, infantile spasms, seizures, balance problems, fragile X testing?
  • Developmental History
    • Social skills? (delay in play ~ 2 years old? Prefers to spend time alone? Friendship group? Eye contact?)
    • Communication skills? (Attaches usual meanings to words? Communicates more with gestures? Short attention span?)
    • Behaviors? (Overactive? Passive? Aggressive? Obsession with a certain subject matter? Repetitive routines?)
    • I.E.P. at school?
  • Family History
  • Any relatives with diagnosed autism or Aspergers, Fragile X, Tuberous Sclerosis, mental retardation, learning disabilities, developmental delay (speech problems), seizures, PKU, balance problems, infant deaths, miscarriages?

What is "Asperger Disorder" or "Asperger's Syndrome"? edit

  • A type of autism that involves a developmental disorder of brain function
  • Autism in general involves three areas:
    • communication (verbal and non-verbal)
    • socialization (interactions with others)
    • behavior
  • diagnosis of a type of autism depends on differences in language development, severity of symptoms, age of onset, and clinical features
  • Symptoms
  • severity is highly variable
  • repetitive movements (i.e., rocking) and routines
  • reduced pain sensitivity
  • aggressive behavior
  • can injure themselves (i.e., biting, head-banging)
  • inability to form emotional bonds with people
  • social and communication skills impaired
  • unusual responses to stimuli (sensitive to sound, light, touch)
  • clumsy movements
  • seizures (1/3 of people with autism will have them)
  • children with "Asperger Disorder" or "Asperger's Syndrome" do not show a history of language delay
  • intelligence is usually normal
    • Etiology
  • caused by abnormalities in brain structure or function, sometimes combined with environmental factors
  • brain cells may migrate to the wrong place in the brain
  • parts of the communication network may fail to form due to problems with neural pathways
  • coordination of thoughts, feelings, and actions may be impaired
  • a number of candidate genes that may play a role in causing Asperger Disorder have been identified and are currently being researched

Genes and Chromosomes edit

  • inheritance is likely multifactorial (genes plus environment)
  • candidate genes found on chromosomes 6,7,9, 15, X
  • Incidence and Carrier Frequency (autism)
  • 1-2 people per 1,000
  • 2,000 to 4,000 children born each year
  • affects all races, ethnicities, and social classes at equal rates
  • 3X to 4X more common in boys that in girls
  • often associated with other genetic disorders
  • Fragile X (found in 10% of people with autism)
  • Tuberous Sclerosis (1/4 of those affected have autism)

Recurrence risks edit

  • overall = up to 8.5%
  • affected male = 7%
  • affected female = 14.5%

Natural History edit

  • symptoms of autism usually appear between 24 and 36 months of age
  • symptoms of Asperger Disorder typically appear later in childhood
  • loss of social skills they may have already developed
  • aggressiveness may increase
  • obsession with a particular subject
  • no cure
  • normal life expectancy

Testing edit

  • currently, there is no medical test to differentiate between the types of autism (diagnosis must be done clinically)
  • chromosome analysis might detect ~5% of autism (associated with abnormalities on the 6,9, 7, 15, and X chromosomes)

Management edit

  • ~60% of people with autism will need care throughout adulthood
    • Education
  • Special educational services?
  • I.E.P? Use of visual aids, structured schedule, teacher-to-student ratio? Positive reinforcement? Step-related tasks?
  • Behavior-based interventions at school?
  • Routine; clear consequences?
    • Behavior
  • Behavior Management Specialist
  • reinforcement of routine/rules both at home and at school
  • regular positive reinforcement and rewards
  • Support system for parents?
  • coping mechanisms may include planning for time away from the child, joining support groups, becoming an active advocate for people with autism, planning for the future once they are gone

Treatment edit

  • some drugs are available to treat symptoms and behavioral problems
    • please note that none of these drugs has been specifically approved for use with people with autism by the F.D.A. and should be taken only under close consultation with a physician *
  • drugs used to treat anxiety and depression (Prozac, Luvox, Zoloft, Anafranil) may relieve some symptoms
  • Anafranil (clomipramine) may reduce obsessive, repetitive behaviors
  • Ritalin may reduce hyperactivity (has been shown to be more effective in those who are higher-functioning and do not have seizures)
  • Vitamin B6 may stimulate brain activity

Psychosocial Issues edit

  • impending adolescence will likely bring a new awareness that the person is somehow different from their peers
  • may result in feelings of social isolation, loneliness, anxiety, sadness
  • lowering of self-confidence and withdrawal may occur
  • stress levels of caregivers may be high due to:
    • expectations
    • desire for a "normal" child (feelings of guilt, denial, anger)
    • too high or too low for the child?
    • frustration, shame, or disappointment that they are not met
    • pressure to socialize with others? (denial)
    • feeling like other parents don't know what you are dealing with or going through
    • sadness at loss of hopes and dreams for the child
    • frustration with possible changing diagnosis?
    • dealing with challenging behaviors of children (anger, frustration, helplessness)
  • coordinating services (time and energy commitment)
  • maintaining continuity/routine
  • communicating child's needs to the school
  • financial strain
  • does insurance cover any therapy?
  • lack of personal support system (partner, family, church, friends?)
  • lack of or inability to attend community support groups

References edit

  • Exploring Autism
  • NIH website and Autism booklet
  • Centerwall, S.A. and Erickson, K.R. "An Introduction to Your Child Who Has Autism." Light the Way Series, Booklet #29. 1986
  • Autism Society of America brochure
  • Harper, P.S. Practical Genetic Counseling, 4th Edition. P.171-172 and 185-190. Butterworth Heinemann.

"Asperger Disorder" or "Asperger's Syndrome" Support Groups and Resources edit

Autism Support Groups and Resources edit

  • Autism Society of America
    • provides information and education to assist parents and educators
    • information packages, phone line for questions
    • focuses on the importance of individualizing the management and treatment programs for each person with autism
    • provides information on a range of available intervention options
    • local chapters arrange meetings and may publish a newsletter
7910 Woodmont Ave, #650
Bethesda, MD 20814-3015
(301) 657-0881
1-800-3-AUTISM (toll-free line)
  • Exploring Autism
  • good overview of the genetics of autism
  • includes frequently asked questions, family stories, a history of autism, and related links
  • Society for Autistic Children of Greater Cincinnati
contact number = 948 -1142
  • Indiana Resource Center on Autism
Institute for the Study of Developmental Disabilities, Indiana University
2853 East Tenth Street
Bloomington, IN 47408-2601
(812) 855-6508
  • offers publications, films and videocassettes on a range of topics related to autism

Notes edit

The information in this outline was last updated in 2002.