Handbook of Genetic Counseling/Autism-3
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Autism (and/or Asperger Disorder)
[edit] Contracting
- 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
[edit] Pediatric Intake
- 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?
[edit] What is "Asperger Disorder" or "Asperger's Syndrome"?
- 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
[edit] Genes and Chromosomes
- 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)
[edit] Recurrence risks
- overall = up to 8.5%
- affected male = 7%
- affected female = 14.5%
[edit] Natural History
- 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
[edit] Testing
- 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)
[edit] Management
- ~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
[edit] Treatment
- 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
[edit] Psychosocial Issues
- 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
[edit] References
- 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.
[edit] "Asperger Disorder" or "Asperger's Syndrome" Support Groups and Resources
- Asperger's related general support site, with forum.
- Asperger's related forum for anyone having a child with behaviour described in this article
- Asperger's related site with various features that are described on the site
[edit] Autism Support Groups and Resources
- 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
[edit] Notes
The information in this outline was last updated in 2002.
