Autism Update and Lifetime Care Considerations

Transcription

1 Autism Update and Lifetime Care Considerations February 2008 By Susan Carpenter MD, FRCPC History of Autism Kanner first introduced the syndrome of autism in This allowed researchers to differentiate autism from other diagnoses, (particularly childhood psychosis) 1950 s and 1960 s focused on describing the nature of autism ie. behavior characters, cognitive aspects, prognosis. Treatment focused on psychoanalytic intervention (refrigerator parents). History 1970 s 1nd 1980 s More defined diagnostic criteria of autism and standardized diagnostic tools were produced. Differentiation was made for Rett s Syn., Fragile X Syn., and Asperger s Syn. Medical etiologies and genetic studies were explored. Psychoanalytic interventions were discarded. Educational Rx. Implemented eg TEACCH History 1980 s and 1990 s Etiology of Autism further advanced. Genetic underpinnings explored. Neuroanatomy and neurophysiology explored. Clarification of milder forms of Autism and Asperger s syndrome occurred. Neuropsychological studies gained insight into cognitive deficits. Rx. By behavior programs, Lovass, home based programs. History Late 1990 s and 2000 Further genetic and medical studies of etiology. Rx. approaches span the lifetime. Prevalence of Autism In per 1000 = 8 per 2000 In the 1960 s 1 per 2000 Autism Spectrum Disorders have a prevalence of per 10,000 children Referrals are increasing for ASD 1

2 Prevalence Studies (Why the Increase?) Previous estimates may have been too low. (Asperger s Disorder may not have been included because of detection often as late as age 10-11years) Diagnostic instruments may be more sensitive There is a real increase! Diagnosis of Autism, a Neurodevelopmental Disorder Onset is usually insidious not abrupt Families become gradually aware there is a problem Diagnosis is often exclusionary: eg. developmental language disorders, neurological disorders Pervasive Developmental Disorders (Autism Spectrum Disorders) Autistic Disorder Rett s Disorder Asperger s Disorder Childhood Disintegrative Disorder Pervasive Developmental Disorder-Not Otherwise Specified Core Characteristics of Autism Impairment of reciprocal social interaction Impairment of verbal and nonverbal communication, including problems with imaginative activity Impairment of behavior including a markedly restricted repertoire of activities and interests, and repetitive behaviors Some impairment in development occurs before age 3 Social Interactions Misinterpret or unaware of other people s behavior and feelings which can lead to inappropriate behavior in social situations. Impaired eye contact is classically present and can be taught with early intervention 2

3 Verbal and Nonverbal Communication Failure to understand the purpose of language to influence their surroundings Echolalia, Pronoun Reversal Literal comprehension of language (abstract concepts very difficult to understand) Behavior Impairment Repetitive stereotyped movements Fascination with odd objects (eg. string) Compulsive activities, routines, rituals Need for sameness May have tantrums, hyperactivity, selfinjury, screaming May have sleeping problems May have eating problems (eg. texture, taste) 3

4 Concept of Multifactorial Causes of Autism Multiple genes perhaps acting synergistically + Possible epigenetic factors + Non-genetic Influences query specific environmental risks query developmental perturbations Is Autism a Disease Entity or a Syndrome (a collection of signs and symptoms without a specific known cause) There are multiple associated medical conditions Genetics There is not a single gene for autism but several genes that in combination, give rise to an increased vulnerability to autism Except for Chr. 14, disorders of other chr. have all been reported to have some association with autism (Gillberg and Coleman 2000) 4

5 Included: Fragile X ( 3% of ASD; 15 to 30% of boys with Fragile X have ASD) Tuberous sclerosis (many have temporal lobe tubers and temporal lobe EEG abnormalities) Neurofibrmomatosis Down Syndrome (rare ASD) (chr. 21) Chromosome 15 abnormalities (Angelman s Syn. Maternal, Prader-Willi Syn. Paternal) Smith-Lemli Opitz Syn. (microcephaly, multiple anomolies) Smith-Magenis Syndrome (chr. 17) severe self injurious behavior,mood instability, disturbed sleep Rett s Syn. (chr. Xq28) Mobius Syndrome (cranial nerve palsy) William s Syn. (chr. 7) (social disinhibition, later anxiety and social withdrawal) Etc. Genetic Strong Influences Chromosome 2q Chromosome 7q Chromosome 16p Medical Conditions Seizure Disorders 1/3 of children with autism have a seizure disorder. The presentation of seizures peaks in early childhood and adolescence By Adulthood 1/3 of persons with autism will have had at least 2 unprovoked seizures Many children who are diagnosed with autism have also other brain abnormalities 5

6 Neuroimaging and Neuroanatomy Hypotheses ASD children may have increased cerebellar volume, but hypoplasia of parts of cerebellum Neuroimaging has produced inconsistent results Early brain stem injury may play a role in autism Gastrointestinal Problems Gastrointestinal symptoms are common. Theory of abnormal intestine permeability and absorption of harmful peptides Although there is no clear evidence of celiac disease, gluten free diets are sometimes attempted Also lactose free diets are attempted Some children improve with these special diets Secretin Theory Speculation that secretin, a gastrointestinal hormone, played a role in autism It has been disproved that intravenous injection of secretin is helpful in treating autism.(13 randomized trials). Other Physical Issues There is a higher incidence of hearing impairment with autism There is frequently altered pain tolerance. Often this is an increased pain tolerance which causes vulnerability. Immunological Theories These theories maintain there is altered immune systems. There may be production of cytokines. There is no evidence to conclude this theory is valid 6

7 Vitamin Deficiency Theory No specific vitamin deficiency has been found. Research using pyridoxine (Vit B6) and magnesium as a treatment seems to have produced improvement in some patients. The mechanism of the positive responses remains unclear. Furthur research is needed. MMR Vacine MMR vaccine was implicated, but has now been disproved as a cause for autism. The theory was that MMR vaccine leads to an abnormal immunological response that causes a leaky gut allowing peptides to enter the blood stream and cause damage to the brain. MMR and Thimerosol The theory is that thimerosol, an ethyl mercury preservative, poisons the brain through the bolus effect of the immunization (a large immediate rise in mercury level), and a cumulative effect of repeated immunizations. Endorphins Endorphins are naturally occuring neuropeptides in the brain (attach to opioid receptors) Plasma Beta-endorphins correlated to stereotypies and self-injury in autistic children Outside Factors Timing of the outside factors may be important during the course of the pregnancy Eg. Valproate tetragenicity (8.9% of children exposed to valproate had ASD or autism) 7

8 Mortality Study (2001) from California Dept. Developmental Services. (Chavelle, 2001) Reduced life expectancy There are factors of other neurological and physical disorders. Mortality ratio correlates with degree of Mental Handicap Life Expectancy Study (2001-Chavelle) from california Dept. Developmental services. All autistic persons served Life expectancy for 5 year old boy reduced by 6+ yrs. And for girls 12+ yrs. Mortality correlates with degree of Intellectual Disability Many have other neurological and physical disorders Concept of Multifactorial Causes of Autism Multiple genes perhaps acting synergistically + Possible epigenetic factors + Non-genetic Influences query specific environmental risks query developmental perturbations Now in Calgary Calgary has a large population of autistic people because of attraction of resources. The cities capacity to serve these patients is less than the demand. The Residential Treatment of severe and profoundly Handicapped Children at HECA previously Margaret House of the Society of Treatment of Autism,has reduced capacity since Dec Successful Transitions Group Begun in 2006 to address the transition from childrens to adult services. FSCD, CHR (adult and child mental health, home care), PDD, Arnika Centre Gap Clients need to be addressed. (not under PDD mandate of IQ<70, gross impairment of adaptive function, Mental illness as classified in DSM) 8

9 Why There is a Crisis in Care For about 1 ½ to 2 years hiring of front line caregivers is difficult to impossible. Hull closed one cottage, Wood s closed a program HECA Discharged 6 children The Last Resort Emergency Room Acute Care Psychiatry The Next Step Recognize the problem Establish resources other than emergency and acute care hospitalization Reexamine Cornerstones of returning all patients to generic community resources. Should there be congregated care settings? 9