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1 The PDD Behavior Inventory (PDDBI)* Ira L. Cohen, Ph.D. Chairman, Psychology Dept. NYS IBR/DD *Cohen and Sudhalter (2005) Psychological Assessment Resources,

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Presentation on theme: "1 The PDD Behavior Inventory (PDDBI)* Ira L. Cohen, Ph.D. Chairman, Psychology Dept. NYS IBR/DD *Cohen and Sudhalter (2005) Psychological Assessment Resources,"— Presentation transcript:

1 1 The PDD Behavior Inventory (PDDBI)* Ira L. Cohen, Ph.D. Chairman, Psychology Dept. NYS IBR/DD *Cohen and Sudhalter (2005) Psychological Assessment Resources, Inc.

2 2 PDD Behavior Inventory (PDDBI) Cohen, I.L., Schmidt-Lackner, S., Romanczyk, R., and Sudhalter, V. (2003). The PDD Behavior Inventory: A rating scale for assessing response to intervention in children with PDD. Journal of Autism and Developmental Disorders, 33(1), Cohen, I.L. (2003). Criterion-related validity of the PDD Behavior Inventory. Journal of Autism and Developmental Disorders, 33(1), Cohen, I.L., and Sudhalter, V. (2005). The PDD Behavior Inventory. Lutz, Fl: Psychological Assessment Resources, Inc.

3 3 Goals of Workshop Understanding why the PDDBI was developed and it’s uses Learning about autism and the related PDDs Learning about administration and scoring of the PDDBI Learning about the reliability and validity of the PDDBI Learning about interpretation of PDDBI score profiles and score discrepancies and their implications for diagnosis and intervention

4 4 Why was the PDDBI Developed? I had clinical and research questions that could not easily be answered with rating scales developed to assess autism –Children’s Psychiatric Rating Scale –Childhood Autism Rating Scale –Autism Behavioral Checklist –Behavioral Summarized Evaluation scale –Global Impression-Type Scales (CGI) –Gilliam Autism Rating Scale –Autism Diagnostic Interview-Revised –Autism Diagnostic Observation Schedule-Generic

5 5 Clinical Questions When a child with autism shows “challenging behaviors”.... Is it because he or she has autism? (i.e., other children with autism show similar problems at the same level of intensity) Is something else going on? (i.e., child’s behavior is beyond what we would expect or is restricted to certain settings) But there’s a problem Assessment tools for autism are not standardized on children with autism Assessment tools for autism are not standardized on different types of informants

6 6 Research/Clinical Questions When a child is treated with medication and repetitive behaviors decrease..... Is there also an improvement in social communication skills? Is there a decrease in social communication skills? But there’s a problem Most assessment tools for autism don’t assess the social communication skills that are important in distinguishing children with autism from typically developing children Instead, they emphasize their problems with communication None are standardized on well-diagnosed samples and none are age-normed

7 7 Clinical Questions When a child with autism has difficulty communicating.... Is it because he or she has autism? (i.e., other children with autism show similar problems at the same skills level) Is something else going on? (i.e., child’s communication is much worse than we would expect or is restricted to certain settings) But there’s a problem Assessment tools for autism are not age-standardized on children with autism Assessment tools for autism are not standardized on different types of informants

8 8 Problems with Existing Assessment Tools 1.Except for the ADI-R and ADOS-G, all of the assessment tools focus exclusively on problem behaviors and do not reflect current research on behaviors that differentiate children with autism from other groups 2.None of the assessment tools are age-normed 3.Only one provides standard scores (GARS) but the diagnostic criteria defining the standardization sample are poorly described 4.Except for the ADI-R and ADOS-G, all focus on behavior problems seen in the more severely affected cases 5.None of the assessment tools are tailored to inputs from teachers/therapists (important for assessing generalization)

9 9 PDD Behavior Inventory (PDDBI) The PDDBI can be used to assess response to intervention, assist in diagnosis and treatment planning, and help with research It: –Assesses both problem behaviors and appropriate social communication behaviors (important in assessing improvement) –Is age-normed (because there is a need to assess change due to age from that due to treatment) –Includes items that are based on the latest research on behaviors that discriminate autism from other conditions –Is standardized on a well-diagnosed autism sample

10 10 Uses of the PDDBI Clinical –Assisting in Diagnosis and Treatment Recommendations –Monitoring Changes at Follow-Ups, etc. Educational –Assisting in Placement Decisions –Assisting in Treatment Planning –Monitoring Students’ Progress, etc. Research –Measuring Response to Novel Treatments –Identifying Meaningful Sub-Groups –Assessing (Endo)phenotypes in Genetic Studies, etc.

11 11 Assisting in Diagnosis Does the child’s profile of domain scores look like someone his/her age with autism? –Is the profile consistent with your observations? –Does the profile suggest an alternate and/or “co- morbid” diagnosis that needs to be considered (diagnostic overshadowing?)? Do the domain profiles of parent and “teacher” agree? –If not, which scores differ? –If they differ, does this say something about diagnosis (e.g., Selective Mutism)?

12 12 Assisting in Placement Decisions Is the child’s problem behavior profile typical of someone his/her age with autism? –If not, are some scores so high that a special treatment setting may be necessary?

13 13 Treatment Planning Is the child’s “social-communication” behavior profile typical of someone his/her age with autism? –If not, do domain scores suggest some other diagnosis should be considered, e.g., Asperger’s?

14 14 Research The PDDBI can be helpful and is being used for measuring meaningful change as a result of intervention (e.g., medication, ABA, dietary, etc.) for people in the autism spectrum –For groups (e.g., Are people in my school improving?; Is my intervention associated with improvement?) –For individuals (Has this person improved?) If so, in what areas? If so, is it a meaningful decrease in autism traits? It is also being used in large scale genetics studies to identify genes associated with certain types of autistic behaviors

15 15 Some Research Programs Using PDDBI Arizona State University Arkansas Children’s Hospital Research Unit ASD-Canadian American Research Consortium Baylor College of Medicine Binghamton University Carlos Albizu University Cleveland Clinic Center for Autism Columbia University - Psychiatric Institute Massachusetts General Hospital M.I.N.D. Institute Mount Sinai Hospital – Seaver Center (Manhattan) National Institute of Mental Health (NIMH) Ohio State University Royal Prince Alfred Hospital, Sydney, Australia St. Mary’s Hospital (Wisconsin) University of California San Diego University of Illinois University of North Carolina – Chapel Hill Washington State University

16 16 PDDBI As will be shown, we have found the PDDBI to be both reliable and valid It can be used for assessing children on the autism spectrum who are between 18 months and 12-1/2 years of age

17 17 Autism and the Related PDDs

18 18

19 19 Autism and the Related PDDs

20 20 Earliest Description of Autism? “If a woman gives birth and the infant rejects the mother” Summa Izbu IV 42 Ancient Mesopotamian medical text (translated by M. Coleman, M.D.)

21 21 Leo Kanner’s Observations (1943) (Kanner, L. Autistic disturbances of affective contact. Nervous Child, 2, ) Sample: 8 boys; 3 girls “inability to relate themselves in the ordinary way to people and situations from the beginning of life” Of 8 speaking children, none used language to convey meaning –echolalia and delayed echolalia –affirmation by repetition –literalness –“personal pronouns are repeated as heard”

22 22 Kanner’s Observations (continued) Excellent rote memories “all powerful need for being left undisturbed” –loud noises and moving objects reacted to with horror “anxiously obsessive desires for the maintenance of sameness” –routines –furniture arrangements

23 23 Kanner’s Observations (continued) Monotonous and repetitive motions and verbal utterances Good relation to objects - not to people “intelligent physiognomies”

24 24 Modern Descriptions of Autism Kanner(1943) British Working Party(1963) Rimland (E-1 and E-2 Scales)(1964) Rutter(1972) Ritvo and Freeman (NSAC)(1977) DSM III(First use of “PDD” term)(1980) DSM-III-R(1987) DSM-IV(1994)

25 25 Diagnostic History of PDD DSM III (1980) –Pervasive Developmental Disorder Infantile Autism Childhood Onset Pervasive Developmental Disorder Atypical Pervasive Developmental Disorder DSM III-R (1987) –Pervasive Developmental Disorder Autistic Disorder Pervasive Developmental Disorder - NOS

26 26 Current Nosology DSM-IV (1994) –Pervasive Developmental Disorder Autistic Disorder Childhood Disintegrative Disorder Rett’s Disorder Asperger’s Disorder Pervasive Developmental Disorder NOS All represent the autism “spectrum”

27 27 Autistic Disorder (DSM-IV) 1) Qualitative impairment in social interaction (Problems with eye contact, facial expression, body posture, gestures, peer relationships, sharing interests, emotional reciprocity) 2) Qualitative impairments in communication (Delay or lack of language, problems with conversational desire/skill, stereotyped language, problems with social and imaginative play) 3) Restricted repetitive and stereotyped patterns of behavior, interests and activities (Preoccupations, inflexible adherence to routines or rituals, stereotyped movements, preoccupation with parts of objects) 4) Onset prior to 3 years; Not Rett’s or Disintegrative

28 28 Candle fixation at birthdays

29 29 “Co-morbid” Features “Anxiety” Problems and Anxiety Disorders Hyperactivity Common Sleeping, Eating, and, sometimes, GI Disturbances “Incongruous” Mood States and Mood Disorders Self-Injurious Behaviors Sometimes Seen Savant Skills in Small Percentage Tics Sometimes Seen Epilepsy in 30% to 40% by adulthood Genetic Syndromes

30 30 PDD-NOS Also known as “Atypical Autism” –Criteria not met for one of the other PDDs due to age of onset, or atypical symptoms, or sub- threshold symptoms or all of these –There is severe and pervasive impairment in development of reciprocal social interaction skills and impairment in communication skills OR presence of stereotyped behaviors, interests, and activities

31 31 Asperger’s Disorder Same characteristics as Autistic Disorder, but: –No general language delay (single words by 2 years; communicative phrases by 3 years) –No delay in cognitive development or self-help skills or curiosity about the environment Not other PDD or schizophrenia “Jerry Espenson” “Boston Legal” ? ?

32 32 Rett’s Disorder Normal pre- and peri-natal development Normal psychomotor development up to 5 mos. Normal HC at birth-HC deceleration 5-48 mos. Loss of purposeful hand skills (hand wringing) Loss of social engagement Poorly coordinated gait and trunk movements Severe language disorder and retardation Breathing abnormalities common Due to MECP2 gene mutation  absence of MECP2 protein  absence of gene suppression –“Leaky genes”

33 33 Childhood Disintegrative Disorder Normal development first 2 years Loss of skills before 10 years in at least 2: –Expressive or receptive language –Social or adaptive skills –Bowel/bladder control –Play –Motor skills Abnormalities in at least 2: –Qualitative social interaction –Qualitative impairment in communication –Repetitive behaviors, restricted interests Not other PDD or schizophrenia

34 34 Differential Diagnosis Issues Receptive-Expressive Language Disorder Mental Retardation without PDD ADHD Deafness/Hearing Impairment Selective Mutism Reactive Attachment Disorder

35 35 Autism/PDD-NOS Characteristics Most are males (about 75%-50%) Developmental delay is common (about 70%) Parents recognize problems around 18 months, sometimes with loss of skills Enlarged head circumference sometimes seen in younger children (about 37%) Genes play a strong role in etiology

36 36 What Causes Autism? Genetic Known/Unknown Pre/Post-Natal Brain Development/Function Autisms (Disorders/Syndromes) (Autism is an etiologically heterogeneous disorder, as is the case with mental retardation) Pre/Post-Natal Environment (viruses, hormones, neurotransmitters, etc.)

37 37 Fragile X Syndrome –About 2 to 8 % in males or females with autism –About 15 % of fragile X males have autism Other Genetic Disorders/Conditions –Untreated Phenylketonuria (PKU) –Tuberous Sclerosis in about 3% of cases –Angelman’s Syndrome –Chromosome 15q11-13 Duplications (maternal origin) (Cook, et al., 1997) - Same region as Prader-Willi (maternal) and Angelman’s (paternal) Deletion Syndromes Known Genetic Conditions Associated With Autism

38 38 Genetics of Autism Twin studies (Bailey, et al 1995) –60% concordance for autism in 25 MZ twins; None in DZ –92% concordance for cognitive impairment in MZ twins; 10% in DZ twins

39 39 The Broader Phenotype Autism, per se, may not be inherited Rather, there appears to be a Spectrum of social and language problems inherited in some families.

40 40 Genetic Factors in Autism Family Studies –Risk of Autism in siblings of proband 5% to 9% –Risk of Autism itself in the population: about 0.5% –Risk of Asperger’s or PDDNOS in siblings ~ 3% –Risk of other social or communication impairments or restricted interests ~20% in siblings Risk of Mood Disorders is elevated in family (siblings, parents, extended family)

41 41

42 42

43 43 Other Medical Issues There is very little evidence for the role of the following in causing autism: –Heavy metals such as mercury –Vaccines such as MMR and DPT –Gastro-intestinal problems Many of these issues are currently being investigated at various centers The role of immune system problems and CNS inflammation in autism are also major questions

44 44 Oxidative Stress Problems in Autism? Levels of transferrin and ceruloplasmin (antioxidants) are lower in children with autism who lost skills relative to sibs

45 45 Administration and Scoring

46 46 Administration Can be completed at home, school, or clinician’s office (should be free from distractions) Ensure confidentiality in reporting Clinician should indicate with an X or check mark whether informant is to complete standard or extended form –Standard: if primary concern is with autism diagnosis- related behaviors (e.g., prevalence studies) –Extended: if concern is with autism behaviors and more generic behavior issues

47 47 General Issues in Administration Give an estimate of amount of time needed to complete the PDDBI (about minutes depending on standard or extended form) Review scoring for: –Question marks (review item with respondent) –Missing responses or multiple responses –Missing dates (birth dates and current date)

48 48 PDDBI Domains Domains were conceptually organized as follows: –Approach/Withdrawal Dimension –Social Communication Skills Domains assess behaviors important for autism (Standard Form) and for associated behavior problems that are not unique to autism (Extended Form) Different versions were created for parents and teachers (a generic term that includes teachers, speech therapists, aides, ABA instructors, etc.)

49 49 PDD Behavior Inventory (PDDBI) Approach-Withdrawal Problems (Repetitive, Ritualistic & Pragmatic Problems) –Sensory/Perceptual Approach Behaviors –Ritualisms/Resistance to Change –Social Pragmatic Problems –Semantic/Pragmatic Problems –Arousal Regulation Problems –Specific Fears –Aggressiveness –Composite Scores (Receptive)/Expressive Communication Skills –Social Approach Behaviors –Expressive Language –Learning, Memory and Receptive Language –Composite Scores Autism Composite Score

50 50 Domains and Item Scoring A “nested approach” was used for each domain Each domain in the PDDBI is made up of a subset of different “clusters” –For example, the Sensory/Perceptual Approach Behaviors domain has 5 clusters in the parent version tapping a variety of repetitive behaviors –Each cluster consists of 4 or more exemplars and each is rated on a Likert scale with the following options: 0 (Does Not Show Behavior); 1 (Rarely Shows Behavior); 2 (Sometimes/Partially Shows Behavior); 3 (Usually/Typically Shows Behavior); and ? (Don’t Understand) Each domain is scored (the raw score) by summing the ratings, taking missing items into account Standard scores are computed from the tables and entered on the Summary Sheet

51 51 PDD Behavior Inventory (PDDBI) Scoring System (T-Scores) Each domain and composite was age-normed and according to a T-score system (mean=50; SD=10) The higher the T-scores for the “Approach-Withdrawal” domains and the Autism Composite Score, the more “severe” or discrepant that child’s scores are from the average child with autism The higher the T-score for the “Receptive/Expressive Social Communication Abilities” domains, the better that child’s skills are relative to the average child with autism

52 52

53 53 Domain Profile Form Standardized T-scores (refer to tables or software) can be plotted on the Profile Form

54 54

55 55 Cluster Score Summary Table Cluster scores within domains can be qualitatively examined along an ordinal dimension for their clinical importance

56 56

57 57 Test Materials Parent Form (PDDBI-P; PDDBI-PX*) –PDDBI-P (124 Items) –PDDBI-PX (188 items) Teacher Form (PDDBI-T; PDDBI-TX*) –PDDBI-T (124 Items) –PDDBI-TX (180 items) Score Summary Sheets Profile Forms (PDDBI-SP – software) X=Extended (if concern is with autism behaviors and with more generic behavior issues)

58 58 Appropriate Populations Any child with a Pervasive Developmental Disorder Ages 18 months through 12 years, 5 months English speaking informants –Flesch-Kincaid Reading Level – Grade 4.7 –Gunning Fog Index – 7.8 (“Reader’s Digest” level)

59 59 Selecting Raters Parent –Parent or legal guardian with the most recent and frequent contact over the previous 6 months (ideally both parents) Teacher –Teacher or other professional (speech therapist; teacher’s aide, etc.) must have had at least daily contact for at least one month or more than 4 weeks of several days per week contact

60 60 Approach-Withdrawal Problems Clusters (Repetitive, Ritualistic & Pragmatic Problems) Sensory/Perceptual Approach Behaviors (Head to Body Arrangement) - SENSORY –Visual Behaviors –Non-Food Taste Behaviors –Touch Behaviors (PDDBI-P) –Noise Making Behaviors (PDDBI-T) –Proprioceptive/Kinesthetic Behaviors –Repetitive Manipulative Behaviors –Gait-Based Kinesthetic Behaviors (PDDBI-T)

61 61 Approach-Withdrawal Problems Clusters (Repetitive, Ritualistic & Pragmatic Problems) Ritualisms/Resistance to Change (RITUAL) –Resistance to Change in the Environment –Resistance to Change in Schedules/Routines –Rituals Social Pragmatic Problems (SOCPP) –Problems with Social Approach –Social Awareness Problems –Inappropriate Reactions to the Approaches of Others

62 62 Approach-Withdrawal Problems Clusters (Repetitive, Ritualistic & Pragmatic Problems) Semantic/Pragmatic Problems (SEMPP) –Aberrant Vocal Quality When Speaking –Problems with Understanding Words (e.g., echolalia) –Verbal Pragmatic Deficits (e.g., problems with conversations or perseverative language)

63 63 Approach-Withdrawal Problems Clusters Arousal Regulation Problems (AROUSE) –Kinesthetic Behaviors –Reduced Responsiveness –Sleep Regulation Problems (PDDBI-P) Specific Fears (FEARS) –Sadness When Away From Caregiver…(PDDBI-P) –Anxiousness When Away From Caregiver…(PDDBI-P) –Auditory Withdrawal Behaviors –Fears and Anxieties –Social Withdrawal Behaviors

64 64 Approach-Withdrawal Problems Clusters Aggressiveness (AGG) –Self-Directed Aggressive Behaviors –Incongruous Negative Affect –Problems when Caregiver…Returns from an Outing or Vacation –Aggressiveness Toward Others –Overall Temperament Problems

65 65 (Receptive)/Expressive Communication Skills Clusters Social Approach Behaviors (SOCAPP) –Visual Social Approach Behaviors –Positive Affect Behaviors –Gestural Approach Behaviors –Responsiveness to Social Inhibition Cues –Social Play Behaviors –Imaginative Play Behaviors –Empathy Behaviors –Social Imitative Behaviors –Social Interaction Behaviors (PDDBI-P)

66 66 (Receptive)/Expressive Communication Skills Clusters Expressive Language (EXPRESS) –Vowel Production –Consonant Production –Diphthong Production –Expressive Language Competence –Verbal Affective Tone –Pragmatic Conversational Skills

67 67 Receptive/Expressive Communication Skills Clusters Learning, Memory, and Receptive Language (LMRL) –General Memory Skills –Receptive Language Competence –Associative Learning (PDDBI-T)

68 68 Composite Scores Approach-Withdrawal Problems (AWP) Repetitive, Ritualistic & Pragmatic Problems (REPRIT) Receptive/Expressive Social Communication Skills (REXSCA) Expressive Social Communication Skills (EXSCA) Autism (SENSORY+RITUAL+SOCPP+SEMPP) – (SOCAPP + EXPRESS)

69 69 Discrepancy Scores  Social Pragmatic Problems – Social Approach Behaviors   Semantic/Pragmatic Problems – Expressive Language   Parent - Teacher 

70 70 Development and Standardization

71 71 “You can observe a lot by just watching” Yogi Berra

72 72 Development Items were selected based on observation and by review of research studies The items were chosen to best represent the cluster to which they were assigned

73 73

74 74 Percent with ADI or ADOS confirmed Autism: 92% (PDDBI-P); 89% (PDDBI-T)

75 75 Reliability Internal Consistency (Alpha) Stability (Test-Retest) Interrater

76 76 Internal Consistency

77 77 Internal Consistency G. Leonard Burns, Ph.D., Washington State University, Pullman, WA Mother Father Teacher Aide Approach-Withdrawal Problems ( ) ( ) ( ) ( ) ( )* ( )* Receptive/Expressive ………( ) ( ) ( ) ( ) ( )* ( )* *PDDBI Manual Data

78 78 Stability

79 79 Interrater (Teacher-Teacher)

80 80 Interrater (Parent-Teacher)

81 81 Interrater G. Leonard Burns, Ph.D., Washington State University, Pullman, WA Mother-Father Teacher-AideMother-Teacher Approach-Withdrawal … ( ) ( ) ( ) ( )( ) Receptive/Expressive … ( ) ( ) ( ) ( )( )

82 82 Validity Internal Structure (intercorrelation matrices) Construct (principal components analyses) Developmental Criterion-Related Clinical

83 83 Internal Structure

84 84 Internal Structure

85 85 Construct Validity

86 86 Factor 1: Confirms Social Communication Dimension Factor 2: Confirms Approach-Withdrawal Dimension

87 87 Developmental Validity y=k*Age^n/(C+Age^n)

88 88 Criterion-Related Validity Childhood Autism Rating Scale (CARS) Nisonger Child Behavior Rating Form (CBRF) Vineland Adaptive Behavior Scales Griffiths Mental Development Scales

89 89

90 90

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93 93 Clinical Validity ADI-R (AGRE* Definitions) –Autism –Not Quite Autism –Broad Spectrum ADOS-G –Autism –Spectrum –Not Spectrum Vineland Adaptive Functioning Level –Adequate/Moderately Low –Mild/Moderate –Severe/Profound Seizure Disorders *http://www.agre.org/agrecatalog/algorithm.cfm

94 94

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98 98 Clinical Interpretation

99 99 PDDBI Profiles For clinical and research purposes, it is important to examine the overall profile of scores, as well as the magnitude of the composite scores, for both parent and teacher observations Such profiles can provide important information about the child, and identify behaviorally-defined sub-groups Remember that the PDDBI is standardized on an autism sample.

100 100 Case 1 - Michael Visit 1 (23 months of age): –Vineland Communication – 6 months Socialization – 11 months Motor Skills – 23 months –ADOS-G: Autism Visit 2 (28 months of age; After 25 hrs/wk of ABA and O.T.): –Vineland Communication – 21 months Socialization – 20 months Motor Skills – 28 months –ADOS-G: Autism Spectrum Disorder

101 101 Kinesthetic BehaviorsReduced ResponsivenessSleep Regulation Problems ModerateVery HighModerate

102 % CI

103 103

104 104 Case 4 - Albert IQ (SB-5): 103 Vineland: –Communication: 89 –Daily Living Skills: 60 –Socialization: 59 Extreme anxiety noted on first observation History of aggressiveness as presenting problem with PDD Positive family history for anxiety and depression Medication: –Visit 1. 5 years, 11 months of age - Dextroamphetamine –Visit 2. 7 years of age - Olanzapine (Zyprexa) – became manic on an SSRI with d-amphetamine Final Diagnoses: BP II; Social Anxiety Disorder; Asperger’s Disorder

105 105

106 106

107 107 Case 5 - Ted Boy, 10 years of age with Fragile X Syndrome Vineland: –Communication: 63 –Daily Living Skills: 46 –Socialization: 65 Medication: Methylphenidate (Ritalin) History of delayed milestones

108 108

109 109 Ted’s Cluster Scores Inappropriate Reactions.. OthersVery High Verbal Pragmatic DeficitsVery High Visual Social ApproachVery High Positive AffectVery High Gestural ApproachVery High Imaginative PlayVery High EmpathyHigh Social ImitativeHigh Social InteractionModerate Social PlayLow SOCPP SOCAPPSOCAPP SEMPP

110 110 Case 6 - Huda Girl, age 3 years, 2 months Rett’s Disorder Vineland: –Communication: 43 –Daily Living Skills: 42 –Socialization: 50 –Motor Skills: 39 ADOS-G: Autism

111 111 Rett’s Disorder Normal pre- and peri-natal development Normal psychomotor development up to 5 mos. Normal HC at birth-HC deceleration 5-48 mos. Loss of purposeful hand skills (hand wringing) Loss of social engagement Poorly coordinated gait and trunk movements Severe language disorder and retardation Breathing abnormalities common Due to MECP2 gene mutation  absence of MECP2 protein  absence of gene suppression –“Leaky genes”

112 112

113 113 Case 7: JM 4 year, 10 month old boy with Costello Syndrome –Grand mal at 3 months of age – stopped breathing –Currently petit mal seizures Tested positive for autism on the ADOS-G Parent report data provided by Dr. G. Hintz (Wisconsin)

114 114 Costello Syndrome Rare multi-organ disorder of unknown etiology Physical characteristics –Growth delay –Short stature –Excessive skin on neck, palms, fingers, soles –Characteristic facial appearance Macrocephaly Low set ears Thick ear lobes and lips, wide nostrils Cognitive delay Behavior – “Warm, sociable, and humorous”

115 115

116 116 Do PDDBI Domains Reflect Improvement?

117 117

118 118 PDD (n=475) vs. Not PDD (n=50; language impaired, emotional problems, typically developing, etc.) - PDDBI-P Autism Composite Area under curve=0.90 (+/-.023); 95% CI: Discriminating PDD from Non-PDD Cases

119 119 Summary The PDDBI is a new reliable and valid tool for measuring treatment effects; assisting in diagnosis, placement, and treatment planning; and analyzing behavioral sub- groups It is sensitive to shifts in diagnostic status It correlates well with other measures of autism and adaptive skills

120 120 PPV and NPV Sensitivity and Specificity=90% Actual PDD Actual Not PDD PPV and NPV % Test Positive for PDD Test Negative for PDD 1090 Base rate N 100

121 121 PPV and NPV Sensitivity and Specificity=90% Actual PDD Actual Not PDD PPV and NPV % Test Positive for PDD Test Negative for PDD Base rate N 10010

122 122 PPV and NPV Sensitivity and Specificity=90% Actual PDD Actual Not PDD PPV and NPV % Test Positive for PDD Test Negative for PDD Base rate N


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