Genetic counseling: Autism-3

Clinical: Approaches · Group therapy · Techniques · Types of problem · Areas of specialism · Taxonomies · Therapeutic issues · Modes of delivery · Model translation project · Personal experiences ·

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?

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 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

[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 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)

[2]

[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