PervasivePervasive Developmental pDisordersl k A ti S talso known as Autism Spectrum

Disorders

Dr. Deborah Marks

Pervasive Developmental Disorders

Autistic Disorder ( Autism) - KannerAsperger Syndromep g yPervasive Developmental Disorder-Not Otherwise SpecifiedpRett SyndromeChildhood Disintegrative DisorderChildhood Disintegrative Disorder

Behavioural Definition: Triad of Impairments

social interactionsocial communicationsymbolic thinking / creative playSPECTRUM/CONTINUUM OFSPECTRUM/CONTINUUM OF SYMPTOMS presents differently according to age, gender and IQg g , g QSymptoms present by 3yrs: later presentation if better language skillspresentation if better language skills

Diagnostic ProcessDiagnostic ProcessMulti-disciplinary team together or in sequence

Paediatrician: Diagnosis; symptoms on history, medical conditions, family situation, planning for futureS h P h l i f i l dSpeech Pathologist: functional and formal language skillsP h l i t d l t l l l/IQPsychologist: developmental level/IQ and style of thinking and interaction, adaptive skillsadaptive skillsOccupational therapist: play skills

Criteria for Autistic Disorder -DSM-IV

Qualitative impairment of social interaction( at least 2)

impairment in non-verbal behaviour such as eye contactfailure to develop appropriate peer relationshipslack of spontaneous seeking to share enjoyment and interestsl k f i l ti l i itlack of social or emotional reciprocity

Criteria for Autistic Disorder -DSM-IV

Qualitative impairment of Communication (at least 1)

delay in spoken language without non-verbal communicationinability to sustain conversationlack of social imitative or make-believe playstereotyped, repetitive or idiosyncratic llanguage

Criteria for Autistic Disorder -DSM-IV

Restricted and Repetitive Patterns of Behaviour, Interests and Activities (at least 1)

preoccupations with patterns of interest of b l i t it fabnormal intensity or focus

inflexible adherence to non-functional routinesstereotyped and repetitive motor mannerismspersistent pre-occupation with parts of objects

Asperger SyndromeAsperger Syndrome

S i i f i l i i d fSame criteria for social impairment and for repetitive and behaviour and restricted interestsNo clinically significant language delay defined as sentences + verb by 3 years (disputed)( p )No cognitive delayNormal self-help skills and curiosityOften present lateOften present lateDifference between AS and high functioning autism debated

Pervasive Developmental Disorder-Not Otherwise SpecifiedSpecified

poorly defined group that do not meet criteria for autism or Asperger syndrome but have symptoms and thinking style of hild ith PDDchildren with PDD

alternative often given is Autism Spectrum Di dDisorder

Spectrum of ConditionsSpectrum of Conditions

Pervasive Develop Disorder -NOS

Classic Autism Classic Asperger Syndrome - KannerAsperger Syndrome

Early Indicators of ASDEarly Indicators of ASDLack of social smile and responsive facialLack of social smile and responsive facial expressionLimited social language/babblePreference for solitude: lack of eye contact and social interest Lack of pointing to items of interest (notLack of pointing to items of interest (not needs)Sensory hypersensitivity/hyposensitivity

Potential screening with M-CHAT

Other Key/Common Features

OverfocusingDifficulties retrieving relevant information in

it f d f d t ilspite of good memory for detailPoor understanding of underlying conceptsM t di ti d l i blMotor co-ordination and planning problemsHigh anxiety levelsRegression at 18months 2 years:20 25%Regression at 18months – 2 years:20-25%Unusual sensory reactions

Perceptual AbnormalitiesPerceptual Abnormalities

Sound sensitivityGenerally for machine noise, human voices

Visual ‘obsessions’Visual obsessionsStaring into space or at waterPeripheral visionp

Tactile defensivenessHaircuts and clothing textures

Eating disordersHypersensitivity to flavours and textures

Hyposensitivity to painHyposensitivity to pain

Savant skillsSavant skills

Present in approx 10%HyperlexiaypCalendar calculationPerspective drawingPerspective drawingNumerical calculation

Differential DiagnosisDifferential Diagnosis

L di d i l f ti i dLanguage disorders: social functioning and understanding of others is preservedIntellectual disability especially moderate IDIntellectual disability, especially moderate IDSelective mutism and social avoidance disorders: lack repetitive behaviourspReactive attachment disorder: improves with change in environmentTourette’s SyndromeAttention Deficit Hyperactivity Disorder

Associated ConditionsAssociated Conditions

Intellectual DisabilityEstimates vary from 70 % to 30%

ADHD, Anxiety Disorders, Mood Disorders – 70%M h l 20%Macrocephaly 20%Learning difficulties - commonH i &/ Vi l I iHearing &/or Visual ImpairmentEpilepsy 17%

Proposed mechanismsProposed mechanisms

Systematizing end of Systematizing/empathizing spectrum (previously known as ↓ theory of mind)Central Coherence (ability to extract relevant information) is weakExecutive functions, including planning and impulse control, are deficient.

PathologyPathology

Di d f l ti itDisorder of neuronal connectivitySpread of excitation between cortical minicolumns

Association of MECP2 (Retts Syndrome) andAssociation of MECP2 (Retts Syndrome) and Fragile X with autistic features supports synaptic dysfunctionAccelerated head growth occurs at time of regression/ symptom developmentFMRI implicates mirror neuron deficit and facial recognition areas.

CausesCausesMost are genetic:90% identical twin concordance ratesKnown genetic syndromes present in minority of children ~10%

Fragile X Tuberose Sclerosisduplications 15q1-q13; 16p11p q q p

Intrauterine causes: Valproate (PKU)

TreatmentTreatment Evidence supports educational ppinterventions

Joint attention, communication, and social skillsApplied Behaviour Analysis: discrete trial trainingTreatments centre-based or involve parents e.g. TEEACH

Uncertainty about intensity needed, age of onset

Education and Early Intervention

Focus on joint attention, communication and social skill developmentGeneralist and Specialist typesSpecial education settingsp g

autism specific special schoolsspecial schoolsspecial schoolsmainstream schools with integration aide

General Support MeasuresGeneral Support Measures

Ongoing parent support work, deal with parental depression and anxietyparental depression and anxietyGenetic counsellingIndividual cognitive behaviour therapy g pysometimes effective for Asperger SyndromeRespiteF il tFamily support groupsFinancial assistanceSpecial support at times of transitionSpecial support at times of transition

Long Term NeedsLong Term Needs

Specific training in social skills: supportive therapy in social developmentSpecialized employment and training facilities and supportsSpecific psychological support in sexual developmentTreatment of co-morbid conditions such as anxiety disordersy

Genetic CounsellingGenetic Counselling

Greater risk of subsequent children with autism:

8% if male, 2% if female~25%if have 2 or more sibs with ASD

20-50x risk of recurrence in subsequent pregnancy

Drug TherapyDrug Therapy

NO TREATMENT FOR CORE SYMPTOMS- use for comorbid symptoms such as aggression, mood swings, self-injury‘Treat’ environment firstUse multidisciplinary approachesUse lowest possible doses

Drug TherapyDrug Therapy

Risperidone preferred for aggression -side effects still important, recent PBS listingSSRIs useful for anxiety, depressive and certain rigid thinking patterns

Restlessness, agitation and insomnia may limit use

Drug TherapyDrug Therapy

Stimulants - Ritalinreduces hyperactivity, decreases impulsivity

50% side effects : agitation, irritability, aggressiveness, sleeplessness, increased stereotypies