Autistic Spectrum Disorders


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Autistic Spectrum Disorders

  1. 1. Mr.Sukesh Kuttan
  3. 3. HISTORY • Henry Maudsley in 1867
  4. 4. Leo Kanner in 1943 coined the term infantile autism in his classic paper “Autistic Disturbances of Affective Contact”
  5. 5. Observations by Leo Kanner • Extreme autistic aloneness • Failure to assume an anticipatory posture • Delayed or deviant language development with echolalia and pronominal reversal (using you for I) • Monotonous repetitions of noises or verbal utterances • Excellent rote memory • Limited range of spontaneous activities, stereotypies, and mannerisms
  6. 6. • Anxiously obsessive desire for the maintenance of sameness and dread of change • Poor eye contact • Abnormal relationships with persons • Preference for pictures and inanimate objects • Kanner suspected that the syndrome was more frequent than it seemed and suggested that some children with this disorder had been misclassified as mentally retarded or schizophrenic.
  7. 7. • Before 1980, children with pervasive developmental disorders were generally diagnosed with childhood schizophrenia.
  8. 8. EPIDEMIOLOGY • Prevalence rates in the range of two per 1000 children. • Seen throughout all socioeconomic levels. • Four times more prevalent in males than females. • Rett disorder exclusively seen in females. • About half of children with autistic disorder are mentally retarded except in childhood disintegrative disorder, in which all affected children are mentally retarded. • ‘Savant’ talents can be seen. (Visuospatial skills and rote memory skills, phenomenal abilities in particular areas such as in memory, calendar calculation or artistic endeavors)
  9. 9. Autism - Prevalence studies in India • No major prevalence studies • Approximately 1 in 500 people NIMHANS study – 1993- among 160 in-patients, ASD was found in 6 cases (3.8%) (Srinath et al) – 1997- among 143 in-patients, ASD was found in 6 cases (4.2%) (Bharath et al) – Unpublished data, 2002- among 309 cases, ASD in 94 (30.4%)(MR cases weren’t included)
  10. 10. ETIOLOGY • Psychosocial theories • Biological theories • Genetic factors • Other medical conditions and autistic disorder • Perinatal factors • Other causes • Neuroanatomical models • Neurochemistry • Immune theories
  11. 11. PSYCHOSOCIAL THEORIES • Kanner's original speculation that emotional factors might be involved in the pathogenesis of autism • Caused by a “refrigerator” mother who was not responsive to the child's emotional needs.(Bruno bettelheim) • Recommends intensive psychotherapy for mother and child or sometimes removal of the child from the family, in an attempt to remediate the basic deficit. • A generation of parents was traumatized by the experience of being blamed for their child's condition.
  12. 12. BIOLOGICAL THEORIES • High rate of mental retardation and seizure disorders and the recognition that various medical or genetic conditions are sometimes associated with the syndrome. • Autistic disorder is a behavioral syndrome caused by one or more factors acting on the central nervous system (CNS).
  13. 13. GENETIC FACTORS • The condition is relatively rare and patients did not seem to reproduce. • Studies of twins indicated high concordance, especially for monozygotic twin pairs, with reduced concordance for fraternal, or dizygotic, same-sex twin pairs. • Evidence also suggested that the high rates of cognitive difficulties in the unaffected monozygotic twin were associated with perinatal complications in the autistic co- twin, suggesting a perinatal insult related to autism in the face of some inherited liability for the disorder.
  14. 14. • Family studies have shown a rate of recurrence in families of approximately 2 to 3 percent of autism among siblings. However, this is 50 to 100 times the rate of autism in the general population. • Parents who are given the early diagnosis and presentation of autism might consciously or unconsciously decide against having additional children. (“stoppage”)
  15. 15. • Even when not affected, siblings are at increased risk for various developmental difficulties, including problems in language and cognitive development. • Recent work on the family members of autistic persons finds higher rates of mood and anxiety problems and increased frequency of social difficulties.
  16. 16. OTHER MEDICAL CONDITIONS AND AUTISTIC DISORDER • Fragile X syndrome and tuberous sclerosis. • Physical signs of the condition include characteristic faces, enlarged testicles, associated mental retardation, and some autistic features. Behavioral difficulties include attention problems, impulsivity, and anxiety. Initially there was great enthusiasm for the notion that a fragile X chromosome might account for most cases of autism in males. This condition remains the second most important known chromosomal cause of mental retardation, after Down syndrome.
  17. 17. • Tuberous sclerosis is characterized by abnormal tissue growth, or benign tumors (hamartomas), that affect various organ systems. • This autosomal dominant disorder is associated with a range of phenotypes including mental retardation and seizure disorder. • Studies find tuberous sclerosis in 0.4 to 2.8 percent of autistic individuals, a significantly higher rate than that in the general population. Rates of autistic disorder in individuals with this disorder are high.
  18. 18. PERINATAL FACTORS • Increased rates of prenatal, perinatal, and neonatal complications in autistic disorder children. • Much of the difference relates to observations that something unusual is noted about the child at birth, which may reflect the operation of both genetic and perinatal factors. • The genetic predisposition to autistic disorder may interact with perinatal factors in producing the syndrome.
  19. 19. OTHER CAUSES • Associated autistic disorder with a host of other conditions. –Autism associated with phenylketonuria, neurofibromatosis, and congenital rubella.
  20. 20. NEUROANATOMICAL MODELS • Some autistic individuals have enlarged brains and heads, whereas others (particularly those more retarded) have smaller heads. • Cellular changes in the hippocampus and the amygdala; increased cell packing has been seen in the amygdala. • Reduced cerebellar size in the neocerebellar vermal lobules VI and VII. • Decreased numbers of purkinje's cells in the cerebellar vermis and hemispheres.
  21. 21. • The severe deficits in language and communication that characterize autistic disorder suggested the possibility of left cortical involvement. Since at least some functions affected in autistic disorder (prosody and language pragmatics) are more likely to be right- hemisphere related, a left hemisphere hypothesis cannot account for all deficits.
  22. 22. • Abnormalities in cortical and subcortical region, neostriatum, sensory processing systems, and the cerebellum. • A role for the medial temporal lobe was suggested by dilatation of the temporal horn in the left lateral ventricle observed in early studies using pneumoencephalogram.
  23. 23. NEUROCHEMISTRY • One third of children with autistic disorder have increased peripheral concentrations of the neurotransmitter serotonin. • Hyperdopaminergic functioning of the brain might explain the over activity and stereotyped movements seen in autism. • Administration of stimulants that increase dopamine concentration typically worsens behavioral functioning in autistic disorder. • Agents that block dopamine receptors are effective in reducing the stereotyped and hyperactive behaviors of many autistic children.
  24. 24. IMMUNE THEORIES • Role of immunological factors in autistic disorder. • There has been a suggestion that maternal antibodies directed against the fetus may be produced in-utero. • There also have been reports of autism associated with viral infections.
  25. 25. 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 • F84.4Overactive 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
  26. 26. F84.0 Childhood autism A pervasive developmental disorder defined by the presence of abnormal and/or impaired development that is manifest before the age of 3 years, and by the characteristic type of abnormal functioning in all three areas of social interaction, communication, and restricted, repetitive behaviour. The disorder occurs in boys three to four times more often than in girls.
  27. 27. F84.2 Rett's syndrome • Identified by Andreas Rett, in 1965 • Rett's disorder is a progressive condition that has its onset after some months of what appears to be normal development. Head circumference is normal at birth and developmental milestones are unremarkable in early life. Between 5 and 48 months of age, generally between 6 months and a year, head growth begins to decelerate. • prevalence of 6 to 7 cases of Rett's disorder per 100,000 girls.
  28. 28. Etiology • Unknown • Hyperammonemia has led to postulation that an enzyme metabolizing ammonia is deficient • Genetic basis. • Complete concordance in monozygotic twins.
  29. 29. Diagnosis and clinical features • During the first 5 months after birth, infants have age-appropriate motor skills, normal head circumference, and normal growth. Social interactions show the expected reciprocal quality. • At 6 months to 2 years of age, children may develop loss of purposeful hand movements, which are replaced by stereotypic motions, such as hand-wringing; the loss of previously acquired speech; psychomotor retardation; and ataxia. Other stereotypical hand movements may occur, such as licking or biting the fingers and tapping or slapping. The head circumference growth decelerates and produces microcephaly.
  30. 30. • All language skills are lost by 6 months and 1 year. • Poor muscle coordination and an apraxic gait with an unsteady and stiff quality develop. • Irregular respiration, with episodes of hyperventilation, apnea, and breath holding. The disorganized breathing occurs in most patients while they are awake; during sleep, the breathing usually normalizes. • Scoliosis. • Spastic to rigid muscle tone. • Children live for well over a decade after the onset of the disorder, after 10 years, many patients are wheelchair-bound, with muscle wasting, rigidity, and virtually no language ability.
  31. 31. Treatment • Symptomatic. • Physiotherapy has been beneficial for the muscular dysfunction. • Anticonvulsant treatment is usually necessary to control the seizures. • Behavior therapy, along with medication.
  32. 32. F84.3 other childhood disintegrative disorder Childhood disintegrative disorder Childhood disintegrative disorder is characterized by marked regression in several areas of functioning after at least 2 years of apparently normal development. • Heller's syndrome and disintegrative psychosis, Epidemiology • One tenth as common as autistic disorder • Prevalence is about 1 in 100,000 boys. • The ratio of boys to girls is between 4 and 8 boys to 1 girl.
  33. 33. Etiology • Unknown • Associated with other neurological conditions, like seizure disorders, tuberous sclerosis, and various metabolic disorders. Diagnosis and clinical features • The onset may be insidious or abrupt, with abilities diminishing in days or weeks. • Restlessness, increased activity level, and anxiety before the loss of function. • Loss of communication skills, marked regression of reciprocal interactions, and the onset of stereotyped movements and compulsive behavior.
  34. 34. F84.4 Overactive disorder associated with mental retardation and stereotyped movements Diagnostic guidelines • Diagnosis depends on the combination of developmentally inappropriate severe overactivity, motor stereotypies, and moderate to severe mental retardation; all three must be present for the diagnosis. If the diagnostic criteria for F84.0, F84.1 or F84.2 are met, that condition should be diagnosed instead.
  35. 35. F84.5 Asperger's syndrome • Asperger's disorder is characterized by impairment and oddity of social interaction and restricted interest and behavior reminiscent of those seen in autistic disorder. Unlike autistic disorder, in Asperger's disorder no significant delays occur in language, cognitive development, or age-appropriate self-help skills • Asperger's disorder occurs in a wide variety of severities, including cases in which very subtle social cues are missed, but overall social interactions are mastered.
  36. 36. Etiology • Unknown • Presence of genetic, metabolic, infectious, and perinatal contributing factors. Diagnosis and clinical features • At least two of the following indications of qualitative social impairment: – markedly abnormal nonverbal communicative gestures, – failure to develop peer relationships – lack of social or emotional reciprocity – impaired ability to express pleasure in other persons' happiness.
  37. 37. Courtesy:
  38. 38. Treatment • Supportive treatment • Shaping interactions so that they better match those of peers. • The tendency of children and adolescents with asperger's disorder to rely on rigid rules and routines can become a source of difficulty for them and be an area that requires therapeutic intervention. • Self-sufficiency and problem-solving techniques are often helpful for these individuals in social situations and in a work setting.
  39. 39. F84.9 pervasive developmental disorder, unspecified Pervasive developmental disorder unspecified • Severe, pervasive impairment in communication skills or the presence of stereotyped behavior, interests, and activities with associated impairment in social interactions. • Some children who receive the diagnosis exhibit a markedly restricted repertoire of activities and interest. • The condition usually shows a better outcome than autistic disorder. Treatment • Mainstreaming in school may be possible. • Psychotherapy.
  40. 40. COMMON CLINICAL FEATURES OF AUTISM SPECTRUM DISORDERS • Physical characteristics • Behavioural characteristics – Qualitative impairments in social interaction – Disturbances of communication and language – Stereotyped behavior – Instability of mood and affect – Response to sensory stimuli – Associated behavioral symptoms • Associated physical illness – Intellectual functioning
  41. 41. Physical characteristics • Do not show any physical signs indicating the disorder • High rates of minor physical anomalies, such as ear malformations, and others that may reflect abnormalities in fetal development of those organs along with parts of the brain. • Autistic children remain ambidextrous at an age when cerebral dominance is established in most children. • Higher incidence of abnormal dermatoglyphics than those in the general population which suggest a disturbance in neuroectodermal development.
  42. 42. Behavioural characteristics • Qualitative impairments in social interaction • Disturbances of communication and language • Stereotyped behavior • Instability of mood and affect • Response to sensory stimuli • Associated behavioral symptoms
  43. 43. Qualitative impairments in social interaction • Do not exhibit the expected level of subtle reciprocal social skills • Lack of social smile and anticipatory posture for being picked up as an adult approaches. • Less frequent or poor eye contact • Impaired attachment behavior. • Do not differentiate important persons in their lives • Extreme anxiety when their usual routine is disrupted • When reached school age, their withdrawal may have diminished and be less obvious, particularly in higher- functioning children.
  44. 44. • Inappropriate and awkward social behaviour • Increased visuo-spatial tasks • Cannot infer the mental state of others around them. • Cannot develop empathy. • Unable to interpret the social behavior of others and leads to a lack of social reciprocation. • In late adolescence, autistic persons often desire friendships, but their difficulties in responding to another's interests, emotions, and feelings are major obstacles in developing them. • Autistic adolescents and adults experience sexual feelings, but their lack of social competence and skills prevents many of them from developing sexual relationships.
  45. 45. Disturbances of communication and language • Language deviance, as much as language delay • difficulty putting meaningful sentences together • their conversations may impart information without providing a sense of acknowledging how the other person is responding. • impaired nonverbal communication skills may also be • In the first year of life, an autistic child's pattern of babbling may be minimal or abnormal. Some children emit noises- “clicks, sounds, screeches, and nonsense syllables,” in a stereotyped fashion, without a seeming intent of communication.
  46. 46. • Exhibit speech that contains echolalia, both immediate and delayed, or stereotyped phrases that seem out of context. • Pronoun reversals. • Difficulties in articulation • Peculiar voice quality and rhythm. • Children with autistic disorder sometimes excel in certain tasks or have special abilities; for example, a child may learn to read fluently at preschool age (hyperlexia), often astonishingly well. • Very young autistic children who can read many words, however, have little comprehension of the words read.
  47. 47. Stereotyped behavior • Exploratory play is absent. • Toys and objects are often manipulated in a ritualistic manner, with few symbolic features. • Do not show imitative play or use abstract pantomime. • The activities and play of these children are often rigid, repetitive, and monotonous. • Ritualistic and compulsive phenomena are common in early and middle childhood.
  48. 48. • Children often spin, bang, and line up objects and may exhibit an attachment to a particular inanimate object. • Exhibit movement abnormalities. • Stereotypies, mannerisms, and grimacing are most frequent when a child is left alone and may decrease in a structured situation. • Resistant to transition and change. Moving to a new house, moving furniture in a room, or a change, such as having breakfast before a bath when the reverse was the routine, may evoke panic, fear, or temper tantrums.
  49. 49. Instability of mood and affect • Sudden mood changes, with bursts of laughing or crying without an obvious reason. • It is difficult to learn more about these episodes if the child cannot express the thoughts related to the affect.
  50. 50. Response to sensory stimuli • Over respond to some stimuli and under respond to other sensory stimuli (e.g. To sound and pain). • Appear deaf, at times showing little response to a normal speaking voice; on the other hand, the same child may show intent interest in the sound of a wristwatch. • Heightened pain threshold or an altered response to pain.
  51. 51. • Some autistic children do not respond to an injury by crying or seeking comfort. • Many autistic children reportedly enjoy music. They frequently hum a tune or sing a song or commercial jingle before saying words or using speech. • Some particularly enjoy vestibular stimulation- ”spinning, swinging, and up-and-down movements.
  52. 52. Associated behavioral symptoms • Hyperkinesis • Hypokinesis alternates with hyperactivity. • Aggression and temper tantrums • Self-injurious behavior includes head banging, biting, scratching, and hair pulling. • Short attention span, poor ability to focus on a task, insomnia, feeding and eating problems, and enuresis are also common among children with autism.
  53. 53. Associated physical illness • Higher-than-expected incidence of upper respiratory infections and other minor infections. • Gastrointestinal symptoms commonly found are excessive burping, constipation, and loose bowel movements. • Increased incidence of febrile seizures • Behavior problems and relatedness seem to improve noticeably during a minor illness, and in some, such changes are clues to physical illness.
  54. 54. Intellectual functioning • 70 to 75 percent of children function in the mentally retarded range of intellectual function. About 30 percent of children function in the mild to moderate range, and about 45 to 50 percent are severely to profoundly mentally retarded. • risk for autistic disorder increases as the IQ decreases. one fifth of all autistic children have a normal, nonverbal intelligence. • most severe problems with verbal sequencing and abstraction skills, with relative strengths in visuospatial or rote memory skills.
  55. 55. • Splinter functions or islets of precocity The abilities, which may exist even in the overall retarded functioning, are referred to as splinter functions or islets of precocity. – Examples are idiot or autistic savants, who have prodigious rote memories or calculating abilities, usually beyond the capabilities of their normal peers. – Hyperlexia, an early ability to read well (although they cannot understand what they read), – Memorizing and reciting, and musical abilities (singing or playing tunes or recognizing musical pieces).
  56. 56. DIFFERENTIAL DIAGNOSIS • Asperger's disorder • Pervasive developmental disorder unspecified. • Mental retardation syndromes • Developmental language disorders. • Schizophrenia with childhood onset, • Congenital deafness or severe hearing disorder, • Psychosocial deprivation, and disintegrative (regressive) psychoses. • Mixed receptive-expressive language disorder • Hearing disorders.
  57. 57. TREATMENT The goals of treatment are • To target behaviors that will improve their abilities to integrate into schools, • Develop meaningful peer relationships • Increase the likelihood of maintaining independent living as adults. • Increase socially acceptable and prosocial behavior, • To decrease odd behavioral symptoms, • to improve verbal and nonverbal communication.
  58. 58. • Language and academic remediation • Intellectually appropriate behavioral interventions to reinforce socially acceptable behaviors and encourage self-care skills. • Support and counseling to parents • Insight-oriented individual psychotherapy • Educational and behavioral interventions are currently considered the treatments of choice.
  59. 59. • Structured classroom training, in combination with behavioral methods • Careful training of parents regarding skills of behavior modification and resolution of the parents' concerns • Rigorous training programs, involving much parental time and a daily program for children for as many hours as feasible is desirable.
  60. 60. • Facilitated communication • The administration of antipsychotic like haloperidol • The atypical antipsychotic agents include risperidone, olanzapine, quetiapine, clozapine and ziprasidone. • Lithium can be administered when antipsychotic medications fail.
  62. 62. NURSING DIAGNOSIS 1 • Impaired social interaction related to delayed development of secure attachment and altered behavioral expression indicating the degree of attachment, abnormal response to sensory inputdisturbance in self-concept, ego development, lack of intuitive skills to comprehend and accurately respond to social cues.
  63. 63. NURSING DIAGNOSIS 2 • Impaired, verbal communication related to neurological impairment, withdrawal into self, inability to trust others, inadequate sensory stimulation; maternal deprivation as evidenced by lack of interactive communication
  64. 64. NURSING DIAGNOSIS 3 • Risk for self-mutilation related to neurological impairment, inability to trust or relate to others, disturbance in self- concept and ego development, abnormal response to sensory input (sensory overload), frustration with inability to get needs met, history of physical, emotional, or sexual abuse, response to demands of therapy, realization of severity of condition, history of self-injury/destructive behavior, indifference to environment or marked distress over changes in environment
  65. 65. NURSING DIAGNOSIS 4 • Disturbed personal identity related to organic brain dysfunction (neurological impairment), lack of development of trust, maternal deprivation, fixation at presymbiotic phase of development
  66. 66. NURSING DIAGNOSIS 5 • Ineffective family coping: compromised/ disabling related to family members unable to express feelings related to having a severely disturbed child, excessive guilt, anger, or blaming among family members regarding child’s condition, ambivalent or dissonant family relationships; disagreements regarding treatment, coping strategies, prolonged coping with problem exhausts supportive ability of family members.
  67. 67. FAMILY ISSUES • Supportive work with the family is mostly needed when parents feel guilt for the condition of their child and they feel depressed appears burnt out. • Psycho education to the family to clarify misconception of the parents and make them understand the nature of the disorder. Importance of training can be emphasized here.
  68. 68. • Family can also be helped with group work interventions. • Groups will help the families to share their feelings and problems in a better way, will make parents aware of the different ways of coping and managing a given concern and will help them overcome their sense of isolation.
  69. 69. • Parents need discussion time with the therapist regarding having another child and related issues like adoption. • Sessions with the couple and sometimes with an individual parent regarding their own needs like sexual and companionship, which are unfulfilled and lead to stress in the marital dyad need discussion.
  70. 70. Autism and parenting
  71. 71. – Learn to be consistent with praise and positive information, while you minimize negative comments and punishment. Children will not learn by being told what not to do -- instead, they need continual and direct guidance on expected behavior. – Celebrate and build upon your child's interests and accomplishments. Be creative, and realize that these interests and strengths could lead to a career. – Set priorities and make a plan. Identify the top few issues and needs for your family, and then develop a plan and enlist others in achieving the plan's priorities.
  72. 72. – You will serve as your child's case manager and lifelong advocate, so organizing information about your child is crucial. – Intensive and ongoing interventions can have a positive long-term impact on your child. In addition to pursuing structured programming/educational options, realize that your child is learning continually. Be prepared to continually teach, coach and guide your child in simple and complex learning and social situations.
  73. 73. – Find leisure and recreational activities that the family can enjoy together. Work with the school to teach skills that will facilitate your child's involvement in these activities. – You can't do it alone, so ask for -- and accept -- help from others. – Work on establishing positive relationships with professionals. You will need to work together closely to resolve difficult issues. Focus your efforts on attacking problems -- not each other.
  74. 74. – Take care of yourself and your health. You need exercise, rest, laughter and time with friends and others. Families comment that having a child with autism is not a death sentence -- it is a life sentence. Maintain your stamina. Practice staying calm and finding humor each day. – Kids grow up, so start early to encourage and enhance behaviors that will help your child become more successful as an adult. Do not encourage behaviors that will minimize opportunities.
  75. 75. – Simplify your life and your child's life. Establish routines and structure, although the demands placed on your child should not be too rigid. Use visual supports in your home to clarify expectations and routines. – Small steps may be major accomplishments for your child. Acknowledge these and celebrate! Courtesy: autism-diagnosis-and-family-stress