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.