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Pervasive Developmental Disorders

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    1. Pervasive Developmental Disorders Psy 610A Gary S. Katz, Ph.D.

    3. Pervasive Developmental Disorders Autistic Disorder Aspergers Disorder Retts Disorder Childhood Disintegrative Disorder Pervasive Developmental Disorder NOS

    4. Pervasive Developmental Disorders Often comorbid with Mental Retardation (coded on Axis II) Often comorbid with a range of chromosomoal abnormalities, congenital infections, structural abnormalities of the CNS (coded on Axis III).

    5. Autistic Disorder (299.00) A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3): (1) qualitative impairment in social interaction, as manifested by at least two of the following: (a) marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction (b) failure to develop peer relationships appropriate to developmental level (c) a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest) (d) lack of social or emotional reciprocity

    6. Autistic Disorder (299.00) A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3): (2) qualitative impairments in communication as manifested by at least one of the following: (a) delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime) (b) in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others (c) stereotyped and repetitive use of language or idiosyncratic language (d) lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level

    7. Autistic Disorder (299.00) A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3): (3) restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following: (a) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus (b) apparently inflexible adherence to specific, nonfunctional routines or rituals (c) stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements) (d) persistent preoccupation with parts of objects

    8. Autistic Disorder (299.00) B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play. C. The disturbance is not better accounted for by Rett's Disorder or Childhood Disintegrative Disorder

    9. Diagnostic Features Markedly abnormal or impaired development in social interaction. Impaired use of multiple nonverbal behaviors Older kids may just not get social interaction Doesnt share interests with others May prefer solitary activities May not participate in simple social play or games May involve others only as a tool or mechanical aid for play May be oblivious to other children (including siblings)

    10. Diagnostic Features Markedly abnormal or impaired development in communication. Delay in or total lack of spoken language Stereotypic use of language When speech does develop, may be atypical in terms of pitch, intonation, rate, rhythm, or stress. Grammar may be immature or stereotyped May have echolalic speech Receptive language may be very delayed; individual may be unable to understand simple questions or directions

    11. Diagnostic Features Markedly restricted repertoire of activity and interests. Often are described as having deep and narrow interests Child may know all about Star Wars or dinosaurs, but nothing about how to use the bathroom. May line up play things or objects in the same manner repeatedly May insist upon sameness and show resistance or catastrophic reactions to changes in routines. May have a repertoire of nonfunctional routines or rituals Stereotypic movements (flapping, clapping, spinning, rocking) Odd postures (tiptoe) Preoccupation with parts of objects rather than the function of the object as a whole Fascination with movement (e.g., spinning wheels, opening/closing doors) Highly attached to some inanimate object

    12. Associated Features Most cases, there is an associated Dx of mental retardation. May be impairment in cognitive skills, sometimes may have special skills (savantism). May have a range of behavioral symptoms Hyperactivity, short attention span, impulsivity Aggressiveness, self-injurious behaviors, temper tantrums Sensory issues Tactile, auditory, visual sensitivity Tags in clothes, loud noises, bright lights May experience a lack of fear In adolescence or early adulthood, may see some depression, particularly in the self-aware / insightful individuals.

    13. Associated Findings If a general medical condition is associated with the Autistic Disorder, you will find medical findings consistent with this general medical condition rather rare. Weight of the evidence indicates that vaccines are not associated with autism. CDC Dietary changes (e.g., elimination diets to address food allergies) also do not have strong case-controlled, peer-reviewed scientific support. Imaging studies do not produce a clear pattern of problems in the brains of children with autism. Can see autism in Fragile-X and tuberous sclerosis Seizures more common in adolescence (25% of cases) When other medical conditions are present, code on Axis III

    14. Age & Gender Features Social impairment changes over time Infants may be stiff and fail to cuddle, lack of eye contact or facial responsiveness Youngsters may be indifferent to parents, use adults as tools to get objects Older children may have some passive interest in social interaction, but may be inappropriately so (e.g., expecting others to respond to ritualized questions in ritualized manner). Males 4-5x higher rate than females; however females with Autistic Disorder are more likely to exhibit more severe Mental Retardation.

    15. Prevalence DSM-IV-TR (2000) cites 5 cases per 10,000 individuals in some epidemiologic studies, ranging from 2 to 20 cases per 10,000 individuals. CDCs Autism and Developmental Disabilities Monitoring Network (ADDM) found a prevalence rate of 1 in 150 8-year-old children in 2000 and 2002. ADDM database may not be representative of the true population of the United States Most prevalence rates in the ADDM ranged from 5.2 to 7.6 per 1000 8-year-old children (1 in 192; 1 in 131, respectively). One state was lower: Alabama 3.3 per 1000 (1 in 303) One state was higher: NJ 10.6 per 1000 (1 in 94) WHY the variation / change in prevalence rates?

    16. Course By definition, onset must be before 3yrs of age. Most parents report something was awry much earlier. Minority of cases have reported normal development until 2yrs of age. In school-aged kids, developmental gains in some areas (e.g., social functioning) are common Some individuals deteriorate behaviorally during adolescence Use of language and intellectual ability are the strongest predictors of ultimate prognosis.

    17. Familial Pattern Increased risk among siblings 5% concordance rate c.f. 1 in 150 rate described previously

    18. Differential Diagnosis Normal developmental regression vs. Autistic Disorder Issues of severity and duration Retts Disorder Sex ratio (Retts only involves females) Head growth deceleration in Retts Motor control issues in Retts Childhood Disintegrative Disorder 2 years of normal development followed by significant regression in CDD Aspergers Disorder Lack of delay in language development in Aspergers

    19. Differential Diagnosis Schizophrenia Positive Sx; hallucinations/delusions Selective mutism Can see appropriate communication in at least one area of functioning Expressive Language / Mixed Receptive-Expressive Language Disorders Language impairment, but not social interaction impairment. Mental Retardation ADHD Stereotypic Movement Disorder

    20. Aspergers Disorder (299.80) A. Qualitative impairment in social interaction, as manifested by at least two of the following: (1) marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction (2) failure to develop peer relationships appropriate to developmental level (3) a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest to other people) (4) lack of social or emotional reciprocity

    21. Aspergers Disorder (299.80) B. Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following: (1) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus (2) apparently inflexible adherence to specific, nonfunctional routines or rituals (3) stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements) (4) persistent preoccupation with parts of objects

    22. Aspergers Disorder (299.80) C. The disturbance causes clinically significant impairment in social, occupational, or other important areas of functioning. D. There is no clinically significant general delay in language (e.g., single words used by age 2 years, communicative phrases used by age 3 years). E. There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behavior (other than in social interaction), and curiosity about the environment in childhood. F. Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia

    23. Diagnostic Features Key feature: no language delay. May have language impairment (e.g., preoccupation with certain topics or verbosity of speech), but no delay or significant impairments specific to Aspergers Disorder. Severe and sustained impairment in social interaction. Often these kids will talk before walking and may appear precocious in terms of their vocabulary, but once exposed to same-aged peers, the social impairment becomes more apparent.

    24. Associated Features Mental retardation rare in Aspergers Disorder. Strengths are often seen in verbal ability with weaknesses in nonverbal areas. May see motor clumsiness, but mild. Many kids receive a Dx of ADHD prior to receiving a Dx of Aspergers Disorder.

    25. Age and Gender Features Social disability becomes more striking over time, as kids become more sophisticated in their social interactions, these kids with Aspergers dont get it. Depression and anxiety common, particularly in those that are more self-aware of their disability. Male : Female ratio is 5:1

    26. Prevalence DSM-IV-TR: Definitive data regarding the prevalence of Aspergers Disorder are lacking. Other research suggests prevalence rates range from 1 in 1000 to 1 in 385 (as of 2003).

    27. Course Like autism, course is continuous and lifelong. Good verbal abilities may mask the disabilities in young children, however as they get older and social interaction is more complex, the disorder becomes more apparent. Good verbal skills may give the impression that the childs behavioral struggles are willful. Older individuals may have an interest in friendship but lack understanding of its conventions. Prognosis is significantly better in Aspergers Disorder than in Autistic Disorder.

    28. Familial Pattern Increased frequency of Aspergers Disorder among family members of those with the disorder. May also be increased risk for Autistic Disorder in this group as well as more general social difficulties.

    29. Differential Diagnosis Autistic Disorder Language issues in Autism Retts Disorder Females only vs. more males Childhood Disintegrative Disorder Developmental regression + 2yrs of normal development Schizophrenia Selective Mutism Expressive / Mixed Receptive-Expressive Language Disorder Obsessive Compulsive Disorder OCD: obsessions are a source of anxiety Aspergers: obsessions are a source of pleasure

    30. Differential Diagnosis In adults, Schizoid Personality Disorder Aspergers social difficulties are more severe and have earlier onset. Social phobia / anxiety disorders Normal social awkwardness Normal age-appropriate interests and hobbies

    31. Retts Disorder (299.80) A. All of the following: (1) apparently normal prenatal and perinatal development (2) apparently normal psychomotor development through the first 5 months after birth (3) normal head circumference at birth B. Onset of all of the following after the period of normal development: (1) deceleration of head growth between ages 5 and 48 months (2) 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) (3) loss of social engagement early in the course (although often social interaction develops later) (4) appearance of poorly coordinated gait or trunk movements (5) severely impaired expressive and receptive language development with severe psychomotor retardation

    32. Diagnostic Features Multiple specific deficits following a period of normal functioning. Head growth deceleration after 5mos of age Loss of purposeful hand skills, social engagement Motor control problems

    33. Associated Features Most recent research points to a genetic abnormality on the X chromosome (MECP2). This explains why no typical males present with Retts Need a functioning X chromosome to survive to term Boys only have one X; girls have 2 There have been very few reported cases of males with Retts; however, almost all of them also had Klinefelters syndrome as well (XXY trisomy). Typically present with Severe or Profound Mental Retardation (coded on Axis II)

    34. Prevalence Most research is case-study oriented; no epidemiologic studies of Retts to date. DSM-IV-TR states only in females Other research points to XXY (Klinefelters) and somatic mosaicism (intersex conditions; some cells have XX, others have XY) as producing phenotypic males with Retts (VERY rare).

    35. Course Developmental regression is the general course after 5mos of age. Loss of skills is persistent and progressive these individuals with Retts get progressively worse, not better. Recovery is quite limited

    36. Differential Diagnosis Autistic Disorder Childhood Disintegrative Disorder Sex ratio, onset, & pattern of deficits RD: female, 5mos onset, specific deficits CDD: male, after 2yrs/before 10yrs onset, range of deficits Aspergers Disorder RD language impairment, head deceleration AD no language impairment, no head deceleration

    37. Childhood Disintegrative Disorder (299.10) A. Apparently normal development for at least the first 2 years after birth as manifested by the presence of age-appropriate verbal and nonverbal communication, social relationships, play, and adaptive behavior. B. Clinically significant loss of previously acquired skills (before age 10 years) in at least two of the following areas: (1) expressive or receptive language (2) social skills or adaptive behavior (3) bowel or bladder control (4) play (5) motor skills

    38. Childhood Disintegrative Disorder (299.10) C. Abnormalities of functioning in at least two of the following areas: (1) qualitative impairment in social interaction (e.g., impairment in nonverbal behaviors, failure to develop peer relationships, lack of social or emotional reciprocity) (2) qualitative impairments in communication (e.g., delay or lack of spoken language, inability to initiate or sustain a conversation, stereotyped and repetitive use of language, lack of varied make-believe play) (3) restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, including motor stereotypies and mannerisms D. The disturbance is not better accounted for by another specific Pervasive Developmental Disorder or by Schizophrenia.

    39. Diagnostic Features Multiple regression in skills after a relatively prolonged period (at least 2yrs) of normal functioning. Most typically, acquired skills are lost in ALL areas. Similar social impairment as seen in Autism

    40. Associated Features Often seen with Severe Mental Retardation (coded on Axis II) EEG abnormalities, seizure disorders increased in frequency Appears likely that there has been some specific insult to the developing CNS, no precise mechanism has been identified Occasionally seen in dystrophies or metabolic storage diseases; most cases have no such condition.

    41. Prevalence Limited epidemiological data. Appears less common than Autistic Disorder Initial research suggested equal sex ratio, later research suggests more common among males.

    42. Course By definition, the course is regressive. Onset typically insidious and abrupt. Usually, loss of skills plateaus, after which some limited improvement may occur rarely significant. Duration is lifelong.

    43. Differential Diagnosis Autistic Disorder Retts Disorder Aspergers Disorder Dementia (onset in infancy or childhood) Requires a general medical condition, CDD does not.

    44. Pervasive Developmental Disorder NOS Used when there is severe and pervasive impairment in the development of reciprocal social interaction with impairment in verbal or nonverbal communication skills or the presence of stereotyped behaviors BUT criteria not met for other PDD

    45. Case Data David S. 5yrs 4mos Caucasian male Referred by local school district for an independent assessment. Receiving behavioral interventions from a private caregiver in the community Currently home-schooled A few significant behavioral/emotional outbursts in public preschool

    46. Case Data David S. Medical history Undiagnosed pre-eclampsia leading to maternal seizures Born very premature (26wks); 2lbs 3oz Experienced Grade I IVH while in NICU Prenatal exposure to cocaine, limited, reported 14 uses Tox screen negative at birth for David.

    47. Case Data David S. Medical history Easy infant and toddler through 18mos VERY colicky at 18mos Did not like changes to his routine nor did he tolerate loud noises or atypical smells (e.g., mom cooking something different, changes in perfume or soap) Currently only eats hamburgers at a fast-food restaurant and any kind of pizza, but is starting to eat tiny bits of fruits and veggies. Developmental milestones very delayed Walking at 15mos, babbling at 20mos, single words at 30mos, clustering words at 36mos Currently has very delayed expressive and receptive language skills as measured by other assessors. Toilet trained at 4yrs, will not use toilet for bowel movement at present.

    48. Case Data David S. Medical history Concerns with gross and fine motor skills; mother feels they are below average. Diagnosed with absence seizures at 3yrs of age, currently medicated. MRI imaging conducted at age 3, no significant structural abnormalities found. David takes medications for the seizures and a range of homeopathic and nutritional supplements.

    49. Case Data David S. Social skills are impaired; David will engage in parallel play with younger peers but no interactive play. No real friends. Family history noncontributory.

    50. Case Data David S.

    51. David S. Diagnostic Impressions?

    52. David S. Diagnostic Impressions

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