Pervasive Developmental Disorders

1. Pervasive Developmental Disorders September 5, 2006 PSYC 4930

2. Pervasive Developmental Disorders • Several disorders are included under the DSM-IV heading of Pervasive Developmental Disorders: • Autistic Disorder • Asperger's Disorder • Rett's Disorder • Childhood Disintegrative Disorder • Pervasive developmental disorder-not otherwise specified (PDD-NOS) • Autism Spectrum Disorders (ASD) • Autistic Disorder Asperger's Disorder Rett's Disorder • Most is known about autism • Relatively early stages of understanding

3. Pervasive Developmental Disorders • PDDs are characterized by severe and pervasive impairments in several areas of development (DSM-IV) • Reciprocal social interactions/skills • Communication • Speech, language, & communication • Stereotyped or repeated behaviors, interests, activities, or routines

4. Pervasive vs. Specific Disorders • PDD are to be distinguished from "Specific Developmental Disorders" (e.g., reading, articulation, arithmetic, and language disorders). • This is because they are characterized by severe disturbances in many basic areas of development. • They may also be reflected in behaviors having no counterpart in normal development. • Thus, children with these conditions often display distorted rather than simply delayed development. • E.G., Echolalia is never developmental typical

5. Why this is important to you? • Prevalence rates for Autism Spectrum Disorders • Between 2 and 6 per 1,000 individuals • Between 1 in 500 to 1 in 166 children have an ASD! • Center for Disease Control and Prevention (CDC)

6. The History of Pervasive Developmental Disorders • Historically disorders of this type have been referred to by a variety of labels such as • atypical psychosis • child psychosis • symbiotic psychosis • childhood schizophrenia • infantile autism

7. Pervasive Developmental Disorders • At one time, conditions referred to as Pervasive Developmental Disorders were often thought to be reflective of Child Psychosis • However, PDDs are not related to the psychotic conditions of adulthood (e.g. Schizophrenia), and are now referred to as "developmental" rather than "psychotic" disorders.

8. Case Example 1 • 7 years-old female • Developmental History • Motor • Sat up without propping at 9 months, walked without assistance at age 3, and showed an early right hand preference. By age 3 ½, she was reportedly able to step over objects, feed herself, and showed a pincer and palmer grip. • Communication • By age 4, attained about a 25-word vocabulary and used 2-word phrases such as “go home”. Her early vocabulary included words such as “go” and “dada”. • Social • At age 3, she reportedly showed appropriate interest in toys and books. • Parent estimated that peak development was at about 4 years of age (Delayed: estimated19-month-old level).

9. Case Example 1 By age 7, regressed to level below 12 months old (Loss of previously acquired skills) • Communication • The only word used at home was “go”. At school she would repeat “good girl” and “good job”, but this was not self-initiated. • Expressive language ~ 5 month old level • Receptive language ~ 6 month old (not readily follow commands) • Motor Skills • Loss of previously acquired purposeful hand skills (i.e., not independently feed herself with fork or spoon, or hold a pencil) • Development of stereotyped hand movements (i.e., hand-wringing) • Loss of locomotion and motor coordination (i.e., no longer walk up stairs). • Lost progress on toilet training previously acquired (i.e., required diapers since 4 years, 9 months old.

10. Case Example 1 • Social Functioning and other symptoms • Diminished interest in previously pleasurable play activities (i.e., playing on a swing, showed no interest when presented with a toy ) • Loss of appropriate social engagement (e.g.,limited eye contact). • Decreased sensitivity to pain, becomes very hyper in new situations, and recently started playing with her feces prior to wringing her hands.

11. Our Diagnosis • Developmental consistent with the IRSA’s description of the “Atypical or Borderline” variant phenotype of Rett Syndrome. • At least 3 of 6 of the main criteria (i.e., absence or reduction of hand skills, monotonous pattern of hand stereotypies, reduction or loss of communication skills) and a number of the supportive criteria (i.e., teeth grinding, harsh sounding type, abnormal locomotion, diminished response to pain).

12. Dr. Andreas Rett in Vienna, Austria Rett Syndrome (Rett’s Disorder) • First described by Dr. Andreas Rett in 1964, but did not receive worldwide recognition until the first English language publication by Dr. Bengt Hagberg in 1983 • Neurodevelopmental disorder • Child appears to be born healthy and have a period of “normal” early development • Onset of symptoms typically occurs as early as 5 months or as late as 48 months. • Occurs in 1:10,000 to 1:23,000 female births • Much rarer than Autism • Often misdiagnosed as autism, cerebral palsy or non-specified developmental delay

13. DSM-IV: Pervasive Developmental Disorder: 299.80 Rett’s Disorder A. All of the following: • Apparently normal prenatal and perinatal development • Apparently normal psychomotor development through the first 5 months after birth • Normal head circumference at birth B. Onset of all of the following after the period of normal development: • Deceleration of head growth between ages 5 and 48 months • Loss of previously acquired purposeful hand skills between ages 5 and 30 months with the subsequent development of stereotyped hand movements (e.g., hand-wringing or hand washing) • Loss of social engagement early in the course (although often social interaction develops later) • Appearance of poorly coordinated gait or trunk movements • Severely impaired expressive and receptive language development with severe psychomotor retardation

14. 2002 Revised Diagnostic criteria for Rett Syndrome • Hagberg B, Hanefeld F, Percy A, Skjeldal O. An update on clinically applicable diagnostic criteria in Rett syndrome. European J of Paediatric Neurology 2002; 6: 293-297 • The International Rett Syndrome Association convened a panel of international experts as part of the European Pediatric Neurology Society. • Based on the correlation between genotypes (gene mutations) and phenotypes (symptoms): • Typical • Atypical or Borderline Variants (15% of of diagnosed cases)

15. Course and Stages of Rett Syndrome STAGE I: Early Onset • Age: 6 months to 1½ years • Duration: months • Stage usually overlooked • Symptoms just emerging and somewhat vague • May be reduced interest in toys, decreased eye contact, delays in gross motor milestones, decelerating head growth,non-specific hand wringing • Often described as a "good" baby, calm and placid

16. STAGE II: Rapid Destructive • Age: 1 to 4 years • Duration: weeks to months • Rapid onset or more gradual • Purposeful hand skills and spoken language are lost • Stereotyped hand movements emerge • Breathing irregularities may emerge • Some girls appear autistic-like • Loss of social interaction and communication • General irritability and sleep irregularity may be seen • Periods of tremulousness, especially when excited • Unsteady gait patterns • Difficulty initiating motor movements • Slowing of head growth is usually noticed from 3 months - 4 years

17. STAGE III: Plateau • Age: Pre-school to school years (2-10 years) • Duration: years • Worsening motor problems • Interfering with every body movement, including eye gaze and speech • Perhaps the most severely disabling feature • Severe seizures • Mental Retardation • Bruxism (teeth grinding) • Improvements in behavior • Less irritability and crying • Less autistic features • Show greater interest in surroundings • Alertness, attention span and communication skills improve • Many remain in Stage III for most of their lifetime

18. Late Motor Deterioration • STAGE IV A (Previously ambulant) or STAGE IV B (Never ambulant) • Age: When stage III ceases, 5-15-25-? years • Duration: up to decades • Usually begins after age 10 • Characterized by reduced mobility • Some stop walking, others have never walked. • Scoliosis is a prominent feature • Muscle Wasting • Rigidity (stiffness) • Dystonia (increased muscle tone with abnormal extremity or trunk positions) • No decline in cognition, communication or hand skills • Repetitive hand movements may decrease. • Eye gaze/contact usually improves • Puberty begins at the expected age in most girls

19. RS: Pathogenesis - Etiology Genetic Disorder • Usually caused by a sporadic mutation (not inherited) or a defective regulatory MECP2 gene on the X chromosome (often father’s sperm) • MECP2 • Tell other genes when to turn off and stop producing their own proteins, failure results in excessive amounts of other proteins • Why is Rett’s seen almost exclusively in females? • Since males have an X and a Y chromosome, they lack a "backup" copy of the X chromosome that can compensate for a defective 1 • Mutations typically lethal to the male fetus • The diagnosis remains a clinical one • Not made solely on the basis of MECP2 mutations. • RS can occur with or without mutations in MECP2, and MECP2 mutations can occur without the diagnosis of RS. • MECP2 gene 70-90% with “classical” RS • MECP2 gene 0-30% with atypical RS

20. Rett Syndrome • Treatment: Multidisciplinary • No cure • Treatment is symptomatic — focusing on the management of symptoms • Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures • Monitoring for scoliosis and possible heart abnormalities • Psychology: Behavioral therapy approaches designed to deal with the behavioral deficits and excesses • Occupational therapy • Physiotherapy • Hydrotherapy may prolong mobility • Nutritionists to help them maintain adequate • Special academic, social, vocational, and support services

21. Rett Syndrome • Long-Term Prognosis • Little is known • Females have a 95% chance of surviving to 25 years old • Morbidity often related to seizure disorder or swallowing difficulties • Future: Stem Cell and Gene Therapy

22. Case Example 2: From the Yale Developmental Disabilities Clinic “John’s early history was within normal limits. By age 2 he was speaking in sentences, and his development appeared to be proceeding appropriately. At age 30 months he was noted to abruptly exhibit a period of marked behavioral regression shortly after the birth of a sibling. He lost previously acquired skills in communication and was no longer toilet trained. He became uninterested in social interaction, and various unusual self-stimulatory behaviors became evident. Comprehensive medical examination failed to reveal any conditions that might account for this development regression. Behaviorally he exhibited features of autism. At follow-up at age 12 he still was not speaking, apart from an occasional single word, and had been placed in a school for the severely disabled.”

23. Pervasive Developmental Disorders:Childhood Disintegrative Disorder • Originally labeled as "dementia infantilis" by Heller (1930), Childhood Disintegrative Disorder is another severe and progressive disorder occurring after a period of normality • Usually develops after age 2, but before age 10 • Involves a rapid regression in behavior where there may be a loss of social, language, motor, and other skills (e.g., play, bladder and bowel control) • Regression or disintegration usually takes place over a period of six to nine months

24. DSM-IV: 299.10 CDD Clinically significant loss of previously acquired skills in two or more of the following areas: • Language: Dramatic regression in expressive and/or receptive language & communication • Deterioration of social skills and/or adaptive skills • Loss of active and or imaginative play / change in method of play becomes ritualistic • Delays in developmental motor skills • Failure to control bowel & bladder functions

25. DSM-IV: 299.10 CDD • Abnormal Functioning in 2 or more of the following areas: • Limited social interactions • E.g., Lack of reciprocal emotion, avoiding eye contact, inability to develop social relationships with same-age peers, and/or inappropriate distress. • Poor communication / language skills • Loss of attained language, failure to initiate or maintain a conversation, involuntary repetition of words or phrases just spoken by others (i.e., Echolalia) • Restricted, repetitive, and stereotyped patterns of behavior • E.g., Lining up toys, no imaginative play • Motor stereotypes and/or mannerisms such as self-stimulation, hand flapping, and tip toe walking.

26. Childhood Disintegrative Disorder • Childhood Disintegrative Disorder is very rare • More common in males than females • May develop slowly or suddenly (between ages of 2 and 10) and its course is variable • Sometimes, after the initial loss of skills, the condition will remain static, with some limited improvement in the area of social behavior • In other cases there is progressive deterioriation • Usually, however, problems in social interaction, communication, and behavior remain relatively constant over time

27. CDD vs. Autism • The obsessional and stereotypic behaviors and the impairment in social interactions that often accompany this disorder can resemble certain aspects of autistic disorder. • 10X less common than Autism • Later age of onset than Autism • Research suggests a generally worse prognosis than Autism

28. Childhood Disintegrative Disorder: Etiology • Little information is available regarding the etiology of this disorder • Central nervous system involvement plays a role • While these findings are suggestive, more definitive investigations into the etiology of this disorder remain to be done.

29. Childhood Disintegrative Disorder:Treatment • Multi-component approach similar to that suggested for the treatment of Rett's disorder might be useful • Use of behavioral approaches to modify problematic behavioral excesses and deficits, along with appropriate special educational approaches

30. Pervasive Developmental Disorders:Asperger’s Disorder • First published account of this disorder by Austrian psychiatrist Hans Asperger in 1944 who initially referred to the condition as "autistic psychopathy“ • However, more recent authors have commented on the similarities between Autism and Asperger’s • Indeed, there is some debate as to whether this disorder is actually distinct from autistic disorder

31. Asperger’s Disorder • Essential features of the disorder: • Severe impairments in social interactions • Restricted and repetitive patterns of interests, activities and/or behaviors • No clinically significant delays in cognitive development, language development, or impairments in adaptive behavior, apart from those related to impairments in social interaction • While not considered a specific symptom of Asperger's Disorder, children with this condition are often delayed in meeting major motor milestones (e.g., crawling, walking) and are frequently characterized as clumsy

32. Asperger’s Disorder • Unlike autism, where social impairments seem to result from an intense desire to withdraw from or avoid social interactions, the social impairment in Asperger’s seems to result from a lack of social skills. • These children seem to have a marked inability to understand and use rules which typically guide social behavior. • The child may show significant problems with: • Nonverbal behaviors such as maintaining appropriate physical proximity to others while interacting • Making and sustaining eye contact • Appropriately usinggestures, facial expression and other nonverbal behaviors to regulate social interactions

33. Asperger’s Disorder • Social behavior often appear quite egocentric and self-centered • Children with Asperger’s may frequently pursue their own highly personalized interests in social encounters without apparent awareness that the other person does not share similar interests • Behavior occurring within the context of two way social interactions often appears as inept, naive and peculiar

34. Asperger’s Disorder • Restricted and repetitive patterns of behaviors, interests, or activities are often striking and may be manifest in a variety of ways: • Some may be preoccupied with specific activities (e.g., spinning objects) or become overly attached to certain objects or familiar places and become intensely upset when separated from them • Others show an inflexible adherence to daily routines

35. Asperger’s Disorder • Commonly, children with this disorder show an extreme all-consuming involvement in some specific area of interest • The child may spend most of his/her time learning facts related to the area • They may collect things having to do with the area, and spend an enormous about of time talking to others about this area whether or not they are interested • While investing a great deal of time learning about their area of interest, the child may have little understanding of the facts that they learn

36. Asperger’s Disorder • Unlike other PDD’s, in Asperger's Disorder • No clinically significant delay in cognitive development or in the area of language • Child may learn to speak at a normal age however, they may show marked peculiarities in language: • May invent words • Use pronouns incorrectly • Repeat words or phrases over and over in a stereotyped manner • Speech content is often overly pedantic, consisting of long one-sided discussions about the child's favorite topic

37. Asperger’s Disorder:Prevalence • Little data on prevalence, but children with Asperger's Disorder are quite rare • Probably more rare than autism • More common in males than in females with sex ratios ranging from 4:1 to 9:1 reported

38. Asperger’s Disorder:Etiology • Originally considered to have a genetic basis (Asperger, 1944). • While no formal studies to assess the possibility of genetic transmission have been published, Wing (1981) has provided relevant case study findings: • Of the 34 cases with this disorder that she studied, 5 of the 16 fathers and 2 of the 24 mothers had, "to a marked degree" behavior resembling that observed in their children • Although not definitive, some support for the role of biological factors in this disorder comes from the fact that these children sometimes show evidence of nonspecific neurological symptoms

39. Asperger’s Disorder:Course and Prognosis • Given higher level of functioning (due to a lack of basic cognitive and language deficits) prognosis appears much better than other PDD’s • Some able to engage in gainful employment and function in a semi-independent manner. • Prognosis is intimately related to treatment and management approaches designed to deal with the child's difficulties

40. Asperger’s Disorder:Treatment • No treatment has been shown to modify the basic underlying impairment • treatment should include behavioral approaches focusing on enhancing the child's ability to function in social situations along with an educational program • Psychotherapy may be useful as the person becomes aware of the degree to which social skills difficulties make it difficult to function

41. Pervasive Developmental Disorders:Autistic Disorder • Infantile autism was first described by Leo Kanner (l943) in his classic paper " Autistic Disturbances of Affective Contact" • In this article, Kanner highlighted the defining characteristics of 11 children seen in his child psychiatry practice at Johns Hopkins University • His views regarding this disorder have heavily influenced present day views of the disorder, emphasized a number of features

42. Autistic Disorder • Unlike certain other severe disorders of childhood, Kanner assumed autism to have an early onset. • He believed the disorder to be present from the beginning of life, or at least to become obvious during the first year • He referred to it as an "inborn disturbance" • He felt that this early onset served to differentiate the disorder from other problems, which at that time, were judged to be manifestations ofchildhood psychosis

43. Autism: Social Deficits • Autistic children have a primary disturbance in social relationships and an apparent inability to relate to others. • They seem aloof, often oblivious to the presence of others, and are often described as being in a world of their own – “Like in a shell”, “Happiest when left alone”, “Acting as though people aren’t there”, etc. • Early life, infants may fail to show anticipatory posturing when the parent attempts to pick them up from the crib, and the failure of the infant to mold him or herself to the body of the parent

44. Autistic Disorder • Kanner suggested that the outstanding fundamental disorder is “the children’s [in]ability to relate themselves in the ordinary way to people and situations from the beginning of life” • He goes on to note that “this is not as in schizophrenic children or adults, a departure from an initially present relationships - it is not a “withdrawal” from formerly existing participation.” • There is from the start, an “extreme aloneness that whenever possible disregards, ignores, shuts out anything that comes to the child from the outside”.

45. Autistic Disorder • All autistic children show evidence of a severe language disorder • Speech is absent in about 50 percent of cases • Those that develop speech typically show unusual features such as echolalia (i.e., the repetition of what someone else has said), pronoun reversal (e.g., referring to oneself as "you" and to others as "I"), or atypical tone (e.g., monotone, inappropriate to content) • Even though some children with autism develop fairly large vocabularies, they usually cannot use speech to communicate with others

46. Autistic Disorder • Kanner noted that although some of his 11 cases developed language, they were no better able to communicate than were those who remained mute • Children with autism who speak often have no difficulty naming objects and may have an aptitude for learning previously constructed verbal materials such as poems, songs, and lists of things • Such learning, however, seems to be without any appreciation of the meaning of these words • There is usually minimal evidence of spontaneous speech that serves a communicative function

47. Autistic Disorder • Kanner and others have noted that autistic children seem to display an desire for the maintenance of sameness • children with autism often get upset when things in their environment are changed ‑ when routines are changed or when toys the child has left in a particular position are moved • This may result in a catastrophic reaction (e.g., tantrum, screaming) lasting until things are returned to their former state • This desire for sameness may lead some children to display a wide range of ritualistic behaviors

48. Autistic Disorder • Other behaviors frequently observed in children with autism: • Stereotyped behaviors (e.g., mouthing objects, flapping arms and hands, rocking, toe-walking). • Over-responsive to environmental stimuli (e.g., light, sound, foods, clothing) • Under-responsiveness and insensitivity to pain and in associated self‑injurious behaviors (e.g,. head banging, scratching, skin picking) • In play, interest in parts of objects and little symbolic play • Often associated with mental retardation • http://www.up-to-date.com/autism.tv/ARI/index.html

49. Autistic Disorder:Prevalence • Although autism is a relatively rare disorder it has been difficult to determine its exact frequency of occurrence. • Varying rates of prevalence are due to: • different diagnostic criteria • frequently confused with other severe disorders of childhood • not all children with autism come to the attention of researchers • Prevalence data from early studies suggested very low rates of occurrence, typically 4 or 5 cases per 10,000 children, and as low as 2 per 10,000 for "classic" cases

50. Autistic Disorder:Prevalence • Gillberg (1990) cites studies, employing differing diagnostic criteria that report figures ranging from 6.6 to 13.6 per 10,000. • The few studies using DSM criteria have reported rates on the order of 10 per 10,000. • The higher rates found in more recent studies has had to do, at least in part, with better detection of autistics among those with severe mental retardation • The disorder is more frequent in boys than in girls, with sex ratios ranging from 2.0 to 1 to 5.7 to 1