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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