Autistic Spectrum Disorders. Farjam Farzam, M.D. Pediatric Neurology Department of Neurology University of Kentucky

Transcription

1 Autistic Spectrum Disorders Farjam Farzam, M.D. Pediatric Neurology Department of Neurology University of Kentucky

2 Autistic Spectrum Disorders Objectives: -Discuss the most common clinical presentations of children with ASD. -Appreciate the clinical variability and broad spectrum of ASD. -Discuss the current impressions of etiologies behind ASD.

3 Introduction Autism Autistic Spectrum Disorders (ASD) Pervasive Developmental disorders (PDD) Used interchangeably.

4 Introduction Autistic Spectrum Disorders: -Some of the most common developmental disabilities in children. -Disorders characterized by cognitive dysfunction and neurobehavioral deficits.

5 Autistic Spectrum Disorders Autism: not a disease. It is a syndrome. Characterized by: 1)Deficits in communication (verbal, non-verbal) 2)Deficits in social interaction. 3)Restrictive, repetitive, stereotypic behavior, interests and activities.

6 Historical Perspective 1943: Kanner -11 children: 2-8 years old. -Unique behavior pattern. -Social remoteness, obsessiveness, stereotypy, Echolalia.

7 Historic Perspective : DSM -Autism: a Psychiatric disorder similar to Schizophrenia s: more research and investigations. 1980: DSM-III -Autism distinguished from Schizophrenia. -Lack of delusions and hallucinations.

8 Historic Perspective More recent classifications: 1994: DSM-IV 2000: DSM-IV-TR

9 DSM-IV-TR Classification ASD/PDD a)autistic disorder b)asperger s disorder c)rett Syndrome d)childhood Disintegrative Disorder e)pdd-nos -Atypical Autism.

10 Autistic Spectrum Disorders A wide range of deficits. Not an absolute presence or absence of particular features. Marked variability in severity of symptoms. Profound MR to talented, high IQ scores.

11 Epidemiology ASD: not rare. Rise in cases (late 1980 s) Rates late 1990 s: 1 in 10,000 Current rates: 4-5 in 10,000 Prevalence: 380,000 to 550,000 in U.S. Misdiagnosed, undiagnosed

12 Epidemiology Increasing awareness among health professionals. Changes in the diagnostic criteria and case definitions. Male:Female ratio 4:1 Urban areas>> Rural areas.

13 Epidemiology Average age of recognition by parents: 18 months. Average age of seeking medical attention: 2 years old. Average age of diagnosis by physicians: 6 years old.

14 Autistic Spectrum Disorders Parental complaints/concerns: -Told by physicians: Not to worry Would grow out of it Return if worries persist

15 Autistic Spectrum Disorders Parental concerns/complaints: -No help or suggestions offered -Problems not explained. -Pressure to obtain referrals to specialist.

16 Autistic Disorder: Diagnostic Criteria 1)Qualitative impairement in communication (at least one): -Delay/lack of spoken language. -Infants: lack of cooing and babbling, no facial expressions. -Completely mute: no response to names. -No pointing, hand over hand pointing.

17 Impairment in Communication Speech: poor conversations or dialogues. Fluency: semantic (word meaning) or pragmatic errors (language to communicate). Repetitive, stereotyped, idiosyncratic language: -Immediate/delayed Echolalia. -Rehearsed speech. -Neologism, idiosyncratic words.

18 Autistic Disorder Lack of make believe or imitative play. Repetitive, mechanical play. Line up toys or objects. Can not incorporate new games.

19 Autistic Disorder: Diagnostic Criteria 2)Qualitative impairment in Social interactions: (at least two) a)impairment in non-verbal behavior: -Poor eye to eye contact. -No smiling, cuddling or arm lifting. -No facial expressions or gestures. -Turn head to stare. -Hug or climb laps of strangers.

20 Impairment of Social Interactions b)lack of social/emotional reciprocity: -Passive, parallel players, outside observers. -One friend: limited interests Computers/video games only. c)poor peer relationships: Older friend: follower Younger friend: leader.

21 Impairment of Social interactions d)lack of sharing of enjoyments, interests or achievements with others. -No showing, no pointing or bringing objects.

22 Autistic Disorder: Diagnostic Criteria 3)Restrictive repetitive, stereotyped patterns of behavior, interests, activities (at least one): -Hand flapping, twisting, spinning. -Non-functional routines/rituals: furniture, dishes, places, entrances, clothes, sheets, colors. -Fascinations: Wheel of fortune, Jeopardy.

23 Behavior and interests Rocking, bruxism, running aimlessly, toe walking, odd postures. Frequent touching or smelling. Flicking strings, cords, tapes, elastic bands. Lights, doors, tap water. Line up toys or objects.

24 Diagnostic Criteria Autistic Disorder: -A total of at least 6 items or more from criterias 1, 2, and 3 listed in the previous slides.

25 Asperger s Disorder 1944: Hans Asperger, German Pediatrician. -4 children: milder Autistic features. -Normal speech and verbal IQ. 1980: German articles found. 1994: DSM-IV first report.

26 Asperger s Disorder -Similar social and behavioral deficits as Autistic disorder. -No language delays or deviance. -Verbal vs. non-verbal IQ: 24 points differ. -No significant delays in cognitive develop. -No delays in age appropriate self-help skills

27 Asperger s Disorder No delays in curiosity about environment. OK adaptive behavior. Social impairments: -Naïve, one sided. -Lack of social, emotional reciprocity. -Puzzled when fail peer relationships. Fine motor deficits, clumsy

28 Rett Syndrome Neuro-degenerative disorder. Females 1966: Rett 1983: Hagberg: 35 new cases. Normal prenatal, birth and early infancy.

29 Rett Syndrome 6-8 months old: -Drop in head circumference. -Loss of purposeful hand movements. -Washing, wringing -Poor truncal or gait coordination. -Loss of language, cognitive and social skills. ->30%: seizures.

30 Childhood Disintegrative Disorder Rare: 100 cases reported. Dementia infantilis, Heller s Syndrome. Normal development until 24 months m.o.: loss of language, cognitive, social and motor skills. Restricted repetitive behavior. More severe symptoms than Autistic disorder

31 Autistic Spectrum Disorders PDD-NOS: -Atypical Autism. -Less severe or atypical symptoms -Less than 6 items for diagnostic criteria. -Onset > 36 months.

32 Autistic Spectrum Disorders Etiology: unknown in most cases. Known/suspected causes: -Genetics: X-linked or Autosomal. -Fragile X: 5-25% -Tuberous Sclerosis. -Down Syndrome: up to 10% -Defects Chromosomes 7, 11, 13, 15, 17

33 Autistic Spectrum Disorders Other etiologies: -Maternal Rubella, CMV. -Severe infections in infancy -Obstetric risk factors: no correlations.

34 Neuropathology Majority: normal gross findings. Children: more brain weight gram. -Enlarged neurons Septum, deep cerebellar nuclei, inferior olive. Adults: less brain weight gram. -Small, pale neurons.

35 Neuropathology Abnormal limbic system (small neuron size) -Hippocampus -Amygdala -Mammilary bodies -Septum -Anterior Cingulate -Entorhinal cortex

36 Neuropathology Cerebellar hemispheres: decreased density of Purkinje and granular cells. Cerebellar vermis: lesser extent. MRI/CT: unremarkable. -May show cerebellar atrophy.

37 Neurochemistry Contradictory findings: A)Serotonin: Decreased: anxiety, self injuries, stereotypes. Increased: aggression, violance.

38 Neurochemistry B)Catacholamines: -Dopamine/Homovanillic acid: increased. -Epinephrine/Norepinephrine: increased. C)Opioid System: -Serum beta-endorphins. Severe Autistic: increased Mildly Autistic: decreased.

39 Diagnostic Evaluations History Physical Examination: a)general: dysmorphic features b)skin: Wood s light, Tuberous Sclerosis. c)head Circumference: -Normal at birth. -Early childhood: >> 60 th %

40 Diagnostic Evaluations Neurological examination: *Mental Status: -Social interactions -Play -Language milestones, speech. -Communication function.

41 Diagnostic Evaluations Motor: -Hypotonia (25-35%) -Limb Apraxia -Stereotypes (40%) -Spasticity (5%)

42 Diagnostic Evaluations Hearing and vision tests: usually normal. Serum Chromosomes/Fragile X. SAA, UOA: metabolic disorders Untreated PKU: 2-5% Autistic patients. -Immigrants third world countries. -Improvement with diet. LA, Pyruvate: Mitochondrial disorders.

43 Diagnostic Tests Should be determined on a case by case basis. Using history and examination Specific tests for specific disorders and entities.

44 Diagnostic Evaluations EEG: Non-specific slowing. -30%: Complex Partial seizures. -Many undiagnosed. MRI/CT: normal majority. -Cerebellar hypoplasia (+/-)

45 Diagnostic Evaluations Psychological testing: -Cognitive function. -Verbal and non-verbal IQ. -After 33 months old. Genetic counseling: -Chances of recurrence Male: 4-7%, Female 7-14%

46 Treatments/Managements There is no cure. Chronic, life-long condition. Pharmacological interventions Educational interventions Behavior therapies Early interventions emphasized.

47 Treatment/Managements 1)Pharmacologic: a)anti-psychotics: Haloperidol -Dopamine receptor antagonist -Less aggression, violence, hyperactivity, self abuse, stereotypes. -Improved learning and social relatedness. -Dyskinesia: side effect.

48 Treatments/Managements Risperidone (Risperdal): -Blocks Serotonin and Dopamine (D2) receptors. -Less extrapyramidal side effects. SSRI: Prozac, Paxil, Zoloft, Luvox. Decrease obsessive, compulsive, aggressive behaviors

49 Treatments/Managements Buspirone: 5 HT receptor agonist. Less successful agents: Ritalin Clonidine TCA

50 Treatments/Managements Educational interventions: *Emphasis on: -Social skills -Communication skills: sign language communication boards, picture exchange. -Play therapy. -Behavior therapy: rewards. -Occupational therapy/self help skills.

51 Educational Interventions One-on-one, daily training Intense: 40 hrs/week. Expensive Parental involvement Special education vs. regular classes.

52 Autistic Spectrum Disorders Conclusion: -Take parental concerns seriously. -Make referrals early. -Sufficient time at office visits. -Avoid labels if unsure of diagnosis. -Practical/useful skills for caregivers.