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Pervasive Developmental Disorders

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  1. Pervasive Developmental Disorders Nursing 864 September 24, 2009

  2. Autism Spectrum Disorders • Autism • Asperger’s Syndrome • PDD, NOS • Rett’s disorder • Childhood Disintegrative Disorder

  3. Autism Spectrum Disorders • Prevalence • Approximately 1/150 children • 4.3 : 1 ratio males to females • Increase in prevalence • Causes • Better assessment and diagnostic tools • Improved recognition by health care providers • Increased public awareness

  4. Etiology • Genetic • Multiple genes involved • Rate of occurrence in siblings 2-8% • Monozygotic twins – 60% • Syndromes and Related Health Problems • Occurs in less than 10% • Fragile X • Epilepsy • Tuberous sclerosis • Fetal alcohol syndrome • Mental retardation occurs in approximately 70% of children • Increased rate of perinatal complications in the mother

  5. AutismDiagnosis – DSM- IV-TR criteria • Qualitative impairment in social interaction (at least 2) • Impaired nonverbal behaviors • Failure to develop peer relationships as same age level • Lack of seeking to enjoy interests or achievement • Qualitative impairment in communication (at least one) • Delay or lack of spoken language • Impaired ability to initiate or sustain conversation • Stereotyped and repetitive use of language • Lack of varied or spontaneous play • Restricted repetitive and stereotyped patterns of behavior, interests and activities (at least one) • Preoccupied with one or more stereotyped or restricted interest • Inflexible to nonfunctional routines or rituals • Stereotyped or repetitive movements

  6. Impaired Social Interaction • Low rates or no initiation of social interaction • Little interest in other children • Trouble sustaining social interactions • Little shared interest • No joint attention • Does not imitate • Does not enjoy social games • No social smile • Little shared interest • Poor eye contact and rarely looks for reaction

  7. Communication Deficits • Delay in language development – principal criteria for diagnosis • Difficulty putting meaningful sentences together • Nonverbal communication impaired • Inappropriate gestures • No response to name called (seems deaf) • Difficulty perceiving themes or intent • Does not point to request (proto-imperative) • Does not point to interest (proto-declarative) • Echolalia • Confused pronouns • Very literal and concrete

  8. Restricted Range of Interests/Stereotyped • Preoccupation with topics or intense interest • Preoccupation with sensory experiences • Repetitive movements • Manipulate toys in ritualistic manner • Monotonous play • Spin, bang, line up toys • Rocking motions • Spinning body • Flap hands • Taste or smell unusual objects • Rigid with rules and resistant to transitions

  9. Asperger’s syndrome • Asperger’s syndrome • Qualitative impairment in social interaction (at least two) • Restricted repetitive and stereotyped pattern of behavior, interests and activities (at least one) • No clinically significant language delay • No clinically significant delay in cognitive development, self-help skills or adaptive behavior (other than social interaction)

  10. PDD, NOS • Severe impairment in the development of reciprocal social interaction • Impaired verbal or nonverbal communication skills • Presence of stereotyped behavior, interests, and activities • Criteria are not met for other PDD • Late Onset • Atypical symptomatology • Subthreshold symptomatology

  11. Childhood Disintegrative Disorder • Rare disorder • Occurs in less than 5/10,000 • Occurs after at least two years of normal development • Generally is diagnosed around 4-5 years of age. • Occurs more frequently in males • Along with regression in social skills and communication, there is regression in motor skills • Etiology • Predisposition to genetic and environmental influences • Prognosis guarded

  12. Rett’s Syndrome • Almost exclusively in females • Typically neurogenerative arrest • Etiology - Gene MECP2 located on the X chromosomes • Early clinical features • Deceleration of head growth • Period of developmental stagnation is followed by a period of regression • Loss of purposeful hand skills and oral language • Development of hand stereotypies and gait dyspraxia • Prognosis – 70% 35 year survival rate

  13. Theory of Mind • The ability to understand the thoughts and intentions of others (mental states) • Perspective taking of others • It can determine how an individual acts and react • Lack of ability or reduced ability in Asperger’s and Autistic disorder

  14. Sally-Anne test (Theory of Mind) (Wimmer and Perner, 1983) • In the presence of the child, the experimenter uses two dolls, "Sally" and "Anne". Sally has a basket; Anne has a box. • The experimenters show a skit: • Sally puts a marble in her basket and then leaves the scene. • While Sally is away and cannot watch, Anne takes the marble out of Sally's basket and puts it into her box. • Sally then returns. • The children are asked where they think she will look for her marble. • Children are said to "pass" the test if they understand that Sally will most likely look inside her basket before realizing that her marble isn't there.

  15. Pathophysiology • Neuroanatomical Factors • Enlargement of gray and white matter cerebral volumes • Increased rate of head circumference emerges at about 12 months of age • Increased volumes in the temporal, parietal and occipital region • No differences in size in frontal lobe or cerebellum • Possible mechanisms • Increased neurogenesis • Decreased neuronal death • Increased production of nonneuronal brain tissue

  16. Pathophysiology • Neurotransmitters • Increased brain-derived neurotrophic factor and other neurotrophins • Age –related serotonin synthesis capacity • These may contribute to abnormal brain growth and organization

  17. Screening and Diagnosis • Group of symptoms • Behavioral • No medical tests • Screening and diagnosis involved clinical judgment • Diagnosis requires presence of severe and pervasive impairment across domains • Not every socially awkward or eccentric child has ASD, but never wait and see • Targeted developmental screening – 9,18 & 30 months • Autism specific screening – 18 and 24 months

  18. Screening Tools • Level 1 • Modified Checklist for Autism in Toddler (M-CHAT) • Screen as young as 18 months • Critical items • Peer interest • Pointing • Joint attention • Shared interest • Imitation • Responds to Name

  19. Screening Tools • Level 2 • Child Autism Rating Scale (CARS) • Gilliam Autism Rating Scale (GARS) • Gilliam Asperger’s Disorder Scale (GADS) • Social Communication Questionnaire (SCQ)

  20. Diagnostic Tools • Level 3 • Autism Diagnostic Observation Scale (ADOS) • Autism Diagnostic Interview – Revised (ADIR) • Preschool Language Scales (IV) – by SLP • Adaptive Ratings (i.e., Vineland) • Cognitive Testing

  21. Diagnostic Evaluation • Multidisciplinary Team • Developmental Pediatrics, Psychology, Speech, Genetics, and Education • Medical/Developmental/Behavioral History • Structured Interview • Behavior Ratings Scales • Structured Direct Observation • Direct Interaction/Teaching • Functional Assessment • Standardized Testing (Speech, Genetics, Psychology)

  22. Other Diagnostic Tests • Used primarily for children with cognitive impairment • MRI – with MR • High-resolution chromosomes • Analysis of the number and structure of the chromosomes • Fragile X • DNA Microarray • Investigates the expression levels of thousands of genes simultaneously.

  23. Empirically Supported Treatments • Early Intensive Behavioral Intervention • Based on Applied Behavior Analysis • Systematic modifications of the environment based on principles of behavior identified through experimental analysis • Focuses on the purpose or the function of the behavior • Involves changing antecedents and consequences to change behavior • Uses principals of operant conditioning

  24. Incidental Teaching • To help improve or elaborate language skills • Teaching occurs when child initiates communication • Must create communication temptations • Prompts help the child be successful • Involves labeling and describing that occurs in the adult-child interaction

  25. Picture Exchange Communication System (PECS) • Augmentative communication • Picture exchange for teaching communication skills • Emphasizes teaching functional language • No evidence of children losing established speech

  26. Discrete Trial Training • Precise teaching interactions that emphasize potent and frequent reinforcing consequences • Each skill is taught separately • Prompting helps insure responding and success • Emphasis on high rate of teaching interactions

  27. Naturalistic Teaching Procedures • Teaching procedures that are embedded in their natural activities • Enhances the spontaneity and generalization of language, social and play skills • Demonstrated to be beneficial for children who are developmentally delayed or disadvantaged

  28. Guidelines for Treatment • Combination of ABA procedures • Best outcome between ages 2-5 • Best outcome for 25 hours or more per week • Best outcome when functional communication is established by age 5

  29. Comorbid Conditions • Behavioral • ADHD • Sleep disturbance • Disruptive behaviors • Temper tantrums • Aggression • Self-injury • Anxiety • Generalized, intense worries • Obsessions and compulsions

  30. Neurologic • Seizures – 20-35% • Hypotonia • Gait Abnormalities • Microcephaly – associated with co-existing structural brain malformations • Macrocephaly • Orthopedic • Toe walking

  31. Nutrition • Restricted food choices • Rituals • Poor motor skills • No evidence of dietary restrictions helpful in treatment (gluten or casein) • Pica • Monitor lead levels

  32. Medication Management • Atypical Antipsychotics - Aggression • Risperdal – Only FDA approved medication for children with autism • Abilify • Stimulants- ADHD • Alpha-adrenergic antagonists – • Clonidine & Tenex – impulsivity and sleep • SSRI’s - anxiety

  33. Parent Counseling • Safety • Nutrition • Advocacy in the School System – IEP • Bullying • Parenting Stress • Siblings

  34. Resources • Autism Action Partnership • www.autismaction.org • PTI Nebraska • www.pti-nebraska.org • First Signs • www.firstsigns.org • National Autism Association • http://www.nationalautismassociation.org/ • Munroe-Meyer Institute • Center for Autism Spectrum Disorders • 559-2441