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Genetic counseling: Autism-3

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Autism (and/or Asperger Disorder)


  • 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 IntakeEdit

  • 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?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 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 my 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 ChromosomesEdit

  • 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 risksEdit

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

Natural HistoryEdit

  • 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


  • 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)


  • ~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


  • 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 IssuesEdit

  • 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


  • [1]
  • 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.

Autism Support Groups and ResourcesEdit

  • 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)
  • [3]
  • 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

See alsoEdit

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