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Pervasive Developmental Disorders Nursing 864 September 24, 2009  Autism Spectrum Disorders  Autism  Asperger’s  PDD, Syndrome NOS Rett’s disorder  Childhood Disintegrative Disorder  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  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 Autism Diagnosis – 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 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 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  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 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) 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 Childhood Disintegrative Disorder  Rare disorder       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   Occurs in less than 5/10,000 Predisposition to genetic and environmental influences Prognosis guarded 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 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 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. 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 Pathophysiology  Neurotransmitters  Increased brain-derived neurotrophic factor and other neurotrophins  Age –related serotonin synthesis capacity  These may contribute to abnormal brain growth and organization 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 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 Screening Tools  Level 2  Child Autism Rating Scale (CARS)  Gilliam Autism Rating Scale (GARS)  Gilliam Asperger’s Disorder Scale (GADS)  Social Communication Questionnaire (SCQ) 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 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) Other Diagnostic Tests  Used primarily for children with cognitive impairment – with MR  High-resolution chromosomes  MRI  Analysis of the number and structure of the chromosomes  Fragile X  DNA Microarray  Investigates the expression levels of thousands of genes simultaneously. 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  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  Picture Exchange Communication System (PECS)  Augmentative communication  Picture exchange for teaching communication skills  Emphasizes teaching functional language  No evidence of children losing established speech  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  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 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 Comorbid Conditions  Behavioral  ADHD  Sleep disturbance  Disruptive behaviors    Temper tantrums Aggression Self-injury  Anxiety  Generalized, intense worries  Obsessions and compulsions  Neurologic – 20-35%  Hypotonia  Gait Abnormalities  Microcephaly – associated with co-existing structural brain malformations  Macrocephaly  Seizures  Orthopedic  Toe walking  Nutrition  Restricted food choices  Rituals  Poor motor skills  No evidence of dietary restrictions helpful in treatment (gluten or casein)  Pica  Monitor lead levels Medication Management  Atypical Antipsychotics - Aggression – Only FDA approved medication for children with autism  Abilify  Risperdal   Stimulants- ADHD Alpha-adrenergic antagonists –  Clonidine  & Tenex – impulsivity and sleep SSRI’s - anxiety Parent Counseling Safety  Nutrition  Advocacy in the School System – IEP  Bullying  Parenting Stress  Siblings  Resources  Autism Action Partnership   PTI Nebraska   www.firstsigns.org National Autism Association   www.pti-nebraska.org First Signs   www.autismaction.org http://www.nationalautismassociation.org/ Munroe-Meyer Institute   Center for Autism Spectrum Disorders 559-2441