Autism based on kaplan & sadocks
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Autism is a developmental disorder characterized by impaired social interaction and communication skills, as well as restricted and repetitive behaviors. It typically emerges in the first 3 years of life. Males are diagnosed with autism 3-7 times more often than females. While its exact causes are unknown, autism is considered to have a strong genetic component. Diagnosis involves assessing social, communication and behavioral criteria. Treatments aim to improve core symptoms and functions through educational, behavioral and medical interventions.
![Neurochemistry
• One-third of autistic subjects have elevated whole blood
serotonin [5-HT], but not specific to autistic disorder.
• Severity of Autism § HVA (homovanillic acid)/
5-HydroxyIndoleAceticAcid (metabolite of serotonin)
• Other neurotransmitters (dopamine [DA],
norepinephrine [NE], glutamate, gamma-aminobutyric
acid [GABA]) and neuropeptides (oxytocin, secretin,
beta-endorphins) have been implicated, but the
evidence is not as reproducible.](https://image.slidesharecdn.com/autismbasedonkaplansadocks-130825025031-phpapp02/85/Autism-based-on-kaplan-sadocks-8-320.jpg)
Autism based on kaplan & sadocks
- 1. Autism
- 2. Definition of Autism Autism is a developmental disorder that appears in the first 3 years of life, and affects the brain's normal development of social and communication skills. markedly abnormal or impaired development in: - social interaction - communication and markedly restricted repertoire of activities and interests.
- 3. Epidemiology • In 2007 a CDC surveillance network found that an average of 6.7 per 10000 (0.06%), 8-year-olds in 2002 had autism spectrum disorders (ASDs), including pervasive developmental disorder (PDD) and Asperger syndrome. • The ratio of males to females with ASDs ranged from roughly 3:1 to roughly 7:1. Autism occurs equally across various races and socioeconomic statuses. • At one time, it was more widely diagnosed in higher socioeconomic groups, probably due to referral biases.
- 4. Etiology • The cause of autism is unknown but it is thought to be a disorder of genetic origins, with a heritability of about 90% with as few as 2 and as many as 15+ genes involved. • Neurocognitive studies suggest lack of connectivity may explain many of the cognitive and emotional deficits. • Syndromic autism is seen at high rates in various genetic disorders (Tuberous sclerosis (2%), Fragile X (1%), 15q11-q13 duplications, Down syndrome and single gene disorders of metabolism such as adenylate lyase deficiency).
- 5. Etiology… • However, environmental influences are also important, as concordance in monozygotic twins has been found (36-91% monozygotic twins concordance v/s 10% dizygotic twins concordance) and the phenotypic expression of the disorder varies widely. • Environmental factors include pre/ post-natal infectious agents (congenital rubella, CMV), chemical toxins (thiomerasol), autoimmune disorders (MMR- anecdotal, not proven), obstetric complications.
- 6. Neuropathology • Neuropathology studies show; - increased cell packing in the limbic system, - reduced numbers of Purkinje cells in the cerebellum, - age-related changes in the cerebellar nuclei and inferior olives, - cortical dysgenesis,
- 7. Neuropathology… - increased brain size, especially in the young autistic child (as measured by head circumference), - ventricular enlargement on CT scan (in 20- 25%), - Increased MRI brain volume, and postmortem brain weight. • 4-32% pt’s have grandmal Seizures at some time. • a/w rubella, PKU, and Tuberus Sclerosis.
- 8. Neurochemistry • One-third of autistic subjects have elevated whole blood serotonin [5-HT], but not specific to autistic disorder. • Severity of Autism § HVA (homovanillic acid)/ 5-HydroxyIndoleAceticAcid (metabolite of serotonin) • Other neurotransmitters (dopamine [DA], norepinephrine [NE], glutamate, gamma-aminobutyric acid [GABA]) and neuropeptides (oxytocin, secretin, beta-endorphins) have been implicated, but the evidence is not as reproducible.
- 9. Core Behavioral Features of Autism • The first key feature Kanner described was that his patients were oblivious to the social world, not unaware but uninterested. • They ignored speech to such an extent that some were considered to be deaf, although none had a hearing impairment. • The children ignored the comings and goings of their parents, the presence of strangers, and the presence of other children (Kanner 1943 ). • Kanner described what is now considered to be the most severe form of a continuum of impairment in reciprocal social relatedness.
- 10. • Wing (1981) has suggested three main types of relatedness impairments in ASD: -aloof (as Kanner described), -passive (responsive to others interactions but not initiating interactions themselves), -and active but odd (clearly interested in social interaction but very unusual in the way they go about it).
- 11. • Children demonstrate social reciprocity in a variety of ways, including patterns of eye gaze, shared emotional expressions, social body postures, and gestures. • This capacity is present in human development from the first few months of life, in gestures such as raising arms up to be lifted, use of eye contact to communicate, and use of facial expressions directed to others to communicate feelings. • These are all affected in autism across age and spectrum of ability levels.
- 12. • A second key feature of autism involves abnormal development and use of language. • This may involve abnormal rhythm, rate, and prosody of speech. • A significant number (50%) of children with autism do not acquire speech. • This group typically does not develop an alternative communication system of gestures or icons without extensive instruction. • Thus, this subgroup lacks verbal and nonverbal communicative behaviors.
- 13. • For those who develop speech in the preschool period, speech appears less a system for sharing thoughts, feelings, desires, and experiences with others and more a system of naming objects. • Children with autism rely much more heavily on repetition, or echolalia, for language learning than others. • Development of sentences is typically delayed and marked by echolalia (repetition of other’s sentences), with resulting pronoun confusion. More verbal children eventually master the syntactic rules, but for them language is very literal and they often have difficulty with metaphor, irony, and humor (Tager-Flusberg et al 2005 ).
- 14. • 3rd key feature is lack of variation in daily behaviors of children with autism. • They have a narrow range of activities and interests and devote large amounts of time to repetitive and ritualized behaviors. • Motor stereotypies such as hand flapping, toe walking, finger movements, odd visual behaviors, repetitive words, or other vocalizations are also common. • Rituals and routines may involve consistent patterns of grouping objects or insisting that household objects not be moved or changed.
- 15. • Many children and adults with autism have unusual reactions to the sensory world. • Many children with autism respond strongly to loud noises and moving objects, although they themselves could make just as loud noises without being upset. • Fascination with moving objects, water, watching the wheels of cars and trains spin, elevator doors, and feeling textures may go hand in hand with severe aversions to clothing textures, food textures, certain sounds, and negative reactions to haircuts or hair washing.
- 16. ICD-10 classification; F84 Pervasive developmental disorders; F84.0 Childhood autism F84.1 Atypical autism F84.2 Rett's syndrome F84.3 Other childhood disintegrative disorder F84.4 Overactive disorder associated with mental retardation and stereotyped movements F84.5 Asperger's syndrome F84.8 Other pervasive developmental disorders F84.9 Pervasive developmental disorder, unspecified
- 17. ICD-10 DIAGNOSTIC GUIDELINES F84.0 chilhood autism; • Presence of abnormal & / or impaired development before 3 yrs of age • No prior period of normal development • Qualitative impairment in reciprocal social interactions, communication and restricted, repetitive behaviour • Occurs in boys 3-4 times more often
- 18. F84.1 atypical autism; • First time manifestation only after 3yrs of age • Insufficient demonstrable abnormalities in one/two of the three areas of psychopathology. • Often in profoundly retarded individuals, little scope for exhibition of specific autistic behaviour due to very low level of functioning.
- 19. DSM-IV TR Category 299: PDD’s Pervasive Developmental Disorders Autistic Disorder (autism) Rett’s Disorder Childhood Disintegrative Disorder Asperger’s Disorder PDD- Not Otherwise Specified • PDDs are characterized by severe and pervasive impairment in 3 main areas; 1. Social interaction 2. Communication 3. Repetitive and restricted behaviors
- 20. DSM-IV-TR criteria (299.00) A. According to DSM-IV-TR criteria, children with autism have to have a total of at least six of the following symptoms before age three, with specific numbers from each the three broad categories: 1. At least two symptoms of abnormal social relatedness: – impaired nonverbal interactive behaviors (e.g. poor eye contact, inappropriate facial expressions and gestures). – failure to develop peer relationships. – reduced interest in shared enjoyment. – lack of social or emotional reciprocity.
- 21. DSM-IV-TR autism criteria… 2. At least one symptom of abnormal communication or play: – Delayed or lack of spoken language. – Difficulty initiating or sustaining conversations. – Stereotypic, repetitive or idiosyncratic language. – Lack of imaginative or imitative play. 3. At least one symptom of abnormal behaviors: – Stereotyped/restricted, obsessive interests. – Rigid adherence to non-functional routines or rituals. – Stereotypic/repetitive motor mannerisms (e.g. toe- walking, hand flapping, body rocking). – Preoccupation with parts of objects.
- 22. DSM-IV-TR autism criteria… B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age three years- 1. social interaction. 2. language as used in social communication. 3. symbolic & imaginative play. C. The disturbance is not better accounted for by Rett’s disorder or childhood disintegrative disorder.
- 23. • In DSM-V, Autism Spectrum Disorder 299.00 is a new disorder encompassing the previous DSM-IV autistic disorder (autism), Asperger’s disorder, childhood disintigrative disorder, Rett’s disorder and pervasive developmental disorder not otherwise specified. • It is characterized by deficits in two core domains; 1. deficits in social communication and social interaction 2. restricted repetitive patterns of behaviour, interests and activities.
- 24. Diagnostic Practices and Tools • A detailed history from parental interviews, • parental description of current functioning in typical situations, and • clinical observation and assessment of the child’s behavior.
- 25. • The most common assessment tools are:- – autism diagnostic inventory (ADI-R), – an experimenter-administered interview, – the social communication questionnaire, – a parent questionnaire with key questions from ADI-R, – the autism diagnostic observational scale-Generic (ADOS-G), – an interactive semistructured interview with the child or adult being diagnosed, – and the childhood autism rating scales (CARSs), an examiner behavior rating system completed after a developmental evaluation.
- 26. Intellectual Functioning • About 70 -75 % of children with autistic disorder function in the mentally retarded range of intellectual function. • About 30 % of children function in the mild to moderate range, • and about 45-50 % are severely to profoundly mentally retarded.
- 27. • studies show that the risk for autistic disorder increases as the IQ decreases. • About 1/5 of all autistic children have a normal, nonverbal intelligence. • The IQ scores of autistic children tend to reflect most severe problems with verbal sequencing and abstraction skills, with relative strengths in visuospatial or rote memory skills. This finding suggests the importance of defects in language-related functions.
- 28. Differential Diagnosis • Autism must first be differentiated from one of the other pervasive developmental disorders- – Asperser's disorder – and pervasive developmental disorder not otherwise specified
- 29. D/D… • Michael Rutter & Lionel Hersov gave a stepwise approach to D/D- 1. schizophrenia with childhood onset; -scz is rare in children under 5. -it is accompanied by delusions or hallucinations. -it has lower incidence of seizers or MR. 2. mental retardation with Behavioural Symptoms; -children with MR relates to adults, use the language and exhibit a relatively even profile of impairments without splinter functions
- 30. D/D… 3. Mixed Receptive-Expressive language disorders; -it has almost equal sex ratio, -nonverbal communication & imaginative play is present in child, -autistic behaviours, impaired social life and stereotypies are absent in these children. 4. Acquired aphasia with convulsions; -these children are normal for several years before losing both receptive and expressive language over aperiod of wks or mths.
- 31. D/D… 5. congenital deafness or severe hearing impairment; -these children have h/o relatively normal babbling that gradually taper and may stop at age of ½-1 yr of age, -deaf child respond only to loud sounds while autistic child may ignore loud or normal sound and respond to soft or low sounds. -audiogram indicate significant hearing loss in these children. -deaf children relate to parents, seek their attention and enjoy being held as infants.
- 32. D/D… 6. psychosocial deprivation; these children almost always improve when placed in a favorable environment but such improvement not seen in autistic children.
- 33. Medical and other Comorbid Features • Seizures- the proportion of patients reported to demonstrate comorbid seizure disorder varies from 5-44% (Tuchman and Rapin 2002 ). • A recent study (Hara 2007 ) carried out a follow- up of 135 patients with idiopathic autism. Of these, 33 of the follow-up group (25%) exhibited epileptic seizures, which had an onset between 8-26 years of age.
- 34. Medical and other Comorbid Features… • Two types of seizure were observed: partial seizures with secondarily generalized seizure (in 61%) and generalized seizure. • While 18% of the nonepileptic group exhibited epileptic discharges on EEG, 68% of the epileptic group revealed epileptiform EEG findings before the onset of epilepsy.
- 35. Medical and other Comorbid Features… • Some studies have found an association between low IQ and the occurrence of epilepsy (Pavone et al 2004) or low IQ and motor deficit and epilepsy (Tuchman et al. 1991). • While the presence of seizure disorder and its association with other aspects of autism may provide interesting clues to the underlying pathophysiology, it remains unclear to what extent epileptiform activity is a core attribute of autism spectrum disorders.
- 36. Anxiety • In Kanner’s original description of autism (1943), he noted unusual fear or anxiety in several of his young patients. • One child, Herbert, was “tremendously frightened by running water, gas burners, and many other things.” He became upset by any change of an accustomed pattern. “If he notices change, he is very fussy and cries.”
- 37. • Another child did a “good deal of worrying.” He was upset because the moon did not always appear in the sky at night. He preferred to play alone and would get down from a play apparatus as soon as another child approached. • Kanner noted that although many individuals with autism learn to tolerate changes in routine and interactions with other people in their environment as adults, these interruptions cause a great deal of anxiety in young children with autism. • Social interactions with other people are an unwelcome intrusion to the child with autism.
- 38. Gastrointestinal Disorders • Children with autism have a higher incidence of gastroin-testinal (GI) problems than typically developing children or children with developmental delays (Valicenti-McDermott et al. 2006 ). • GI problems are a common complaint of parents of children with autism and has been one of the factors that have prompted the use of complementary and alternative medicines (Harrington et al. 2006 ).
- 39. Autoimmune Disorders • Immune dysfunction may play an important role in a subset of pervasive developmental disorder cases (van Gent et al. 1997). • Some patients with pervasive developmental disorder demonstrate abnormalities and/or deficits of immune system function leading to inappropriate or ineffective immune response to pathogen challenge (Ashwood and Van de Water 2004).
- 40. Autoimmune disorders… • For example, children with autism or pervasive developmental disorder often have recurrent infections (Stern et al. 2005 ), peripheral immune abnormalities (Ashwood et al. 2003), or neuroinflammatory responses in the central nervous system (Vargas et al. 2005 ). • studies have also reported that autoimmune disorders are more common in family members of ASD patients compared to typically developing controls. • Antibodies directed against CNS proteins have been found in the sera of autistic children.
- 41. Autoimmune disorders… • Antibodies from serum of mothers who have children with pervasive developmental disorder have been shown to react to antigens on lymphocytes from their affected children (Warren et al. 1990 ). • Van de Water and colleagues have identified a common pattern of autoantibody production to fetal brain tissue in the serum of mothers who have two or more children with pervasive developmental disorder (Braunschweig et al).
- 42. Treatment strategies for PDDs: summary • Educational and vocational interventions: most will be eligible for individualized educational plan with accommodations and services to address their special needs. • Behavioral interventions: include behavior modification, social skills training, and CBT methods. • Family interventions: educational, support, advocacy.
- 43. t/t strategy… • Speech and language therapy, occupational therapy. • Pharmacotherapy: symptom management, eg. atypical antipsychotics for stereotypies and aggressive agitation; SSRIs or clomipramine for compulsive and self-harming behaviors, depression/anxiety; stimulants for ADHD symptoms. • Treat medical conditions (eg. epilepsy).
- 44. Behavioral treatment • Behavioral/ psycho-educational interventions have been used to treat the core symptom features of autism in the realms of communication and social interaction. • Applied Behavioral Analysis (ABA)- A strategy for developing social skills based on the idea that rewarded behaviors will be repeated. • Treatment and Education of Autistic and Related Communication of Handicapped Children (TEACCH). Structured teaching approach that uses the child's visual and rote memory strengths to improve communication, social and coping skills.
- 45. Behavioral t/t… • Picture Exchange Communication System (PECS)- Helps nonverbal children express themselves, reduces maladaptive behaviors. • Play therapy- counseling to help children express themselves through toys. • Social stories- an intervention to address behavior difficulties.
- 46. Behavioral t/t… • Sensory integration- provides controlled sensory input with the goal increased adaptive behaviors/responses and less agitation. • Speech therapy- teaches how to communicate more effectively- how to hold a conversation, thinking about what the other person in a conversation understands and believes, and tuning in to the meta-linguistic signals of the other person.
- 47. Pharmacotherapy • Specific forms of medication treatment have been shown to produce significant improvements in problem behaviors associated with autism in double blind placebo-controlled trials in autistic patients. • Anxiety symptoms, repetitive behaviors as seen in patients who have obsessions or compulsions, self- injurious behaviors, and perhaps social avoidance/withdrawal have been significantly reduced with the use of SSRIs (fluoxetine, sertraline, clomipramine, fluvoxamine) and atypical antidepressants (mirtazapine and venlafaxine).
- 48. • Neuroleptics have been shown to reduce irritability, hyperactivity (risperidone), aggression (haloperidol low doses and risperidone). • Stimulants, NMDA antagonists, and alpha-2 noradrenergic receptor agonists have been shown to decrease hyperactivity and inattention (methylphenidate, amantadine, clonidine).
- 49. • The sometimes exquisite sensitivity of patients who have autism requires careful initiation, titration, and monitoring of any psychopharmacologic/ pharmacologic treatments. Treatment of associated disorders such as epilepsy and GI problems should also be carefully monitored. • In 2006 first time the FDA has approved, risperidone for the treatment of irritability associated with autistic disorder, including symptoms of aggression toward others, deliberate self-injuriousness, temper tantrums, and quickly changing moods, in children and adolescents ages 5 to 16 years.
- 51. Conclusions • Autism is a spectrum disorder that is defined behaviorally as consisting of social and communication impairments and the presence of stereotyped behaviors and/or circumscribed interests. • There is a general consensus that autism has a variety of etiologies that consist of different proportions of genetic and environmental contributions.
- 52. • While some 10% of autism cases are associated with a defined medical condition such as fragile X syndrome, the causes of the remainder of idiopathic autism are currently unknown. • Autism affects the development of several brain systems. The most common biological finding is precocious brain development of the cerebral cortex and amygdala.
- 53. • Beyond the nervous system, there appears to be a variety of dysregulated functions in the immune system of some individuals with autism and some mothers of individuals with autism. • Finally, autism is generally agreed to be a polygenic disorder, with multiple genes showing weak association.
- 58. Philosophy “If you would help me, don’t try to change me to fit your world. Don’t try to confine me to some tiny part of the world that you can change to fit me. Grant me the dignity of meeting me on my own terms – recognise that we are equally alien to each other, and that my ways of being are not merely damaged versions of yours. Question your assumptions. Define your terms. Work with me to build more bridges between us.” (J. Sinclair : Personal Essay – High Functioning individuals with autism E. Schopler, G. Mesibov, 1992).