# Handbook of Genetic Counseling/Autism-3

Autism (and/or Asperger Disorder)

## 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

## 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?

## 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

## 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)

## Recurrence risks

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

## 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

## 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)

## 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

## 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

## 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

## 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.

## "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

## 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

## Notes

The information in this outline was last updated in 2002.