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  1. 1. Pervasive Developmental Disorder Dr.Anurag Fursule,DNB Resident (second year)
  2. 2. • Adjective • Meaning: (especially of an unwelcome influence or physical effect) spreading widely throughout an area or a group of people
  3. 3. Disease Overview Pervasive Developmental Disorders (PDDs) Childhood Disintegrative Disorder (CDD) Autistic Disorder Autism Spectrum Disorders* (ASDs) Asperger’s Disorder Rett’s Disorder Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) *ASD is not a DSM-IV TR definition but reflects categorization in the general public. Tidmarsh L et al. Can J Psychiatry. 2003;48:517-525; DSM-IV TR. Washington, DC: American Psychiatric Association; 2000.
  4. 4. Epidemiology • • • • • • • Increasing steadily since last 15 yrs Prevalence 1/150 Disease specific prevalence 20.6/10000 Asperger syndrome 6/10000 PDD NOS 37.1/10000 Rett disorder 0.5-1/10000 M:F =4:1 or AD 5:1 for asperger
  5. 5. Pathology • Differences in brain structure of children with AD • Initially till 2 months of age HC is normal or smaller • Later show abnormally rapid increase in HC from 6-14 months • Increase in brain volume from 2-4 yr of age • Early accelerated growth in initial years is followed later by abnormally slow or arrested growth • Functional areas (cognitive, language ,emotional,social) are most affected
  6. 6. ETIOLOGY Copy number variations Deletions Microdeletions Gene gene interaction Duplication Gene Environment interaction •Abnormal neuronal and axonal growth •Abnormal synapse formation •Abnormal myelination Inversion Translocation
  7. 7. • In utero insults • Environmental factors cannot be ruled out • No relation between development of AD and MMR vaccine • Premature birth is also a risk factor for AD
  8. 8. Clinical Features • Core features of AD include impairment in 3 symptom domains: 1.Social Interaction 2.Communication 3.Developmentally appropriate behavior, interests and activities • onset of autism is almost always before age 3 • parents typically are concerned between the ages of 12 and 18 months as language fails to develop
  9. 9. Social Interaction • • • • • • • • • • Stereotypical body movements Marked need for sameness Very narrow range of interests Impaired ability to engage in social interaction (hallmark symptom) Abnormal eye contact Lack of interactive play Failure to smile Lack of sharing Lack of interest in other children Some children may show intermittent engagement with environment and inconsistent eye contact , hug , smile • Impairment in joint attention • Deficits in empathy
  10. 10. Communication • Vary in verbal abilities • May be nonverbal to having some speech(capable of imitating songs rhymes) • Speech may have odd prosody or intonation • There may be echolalia, pronoun reversal, non sense rhyming • Absent babbling or gestures by 12 months of age • Absent single word by 16 months • Absent two word purposeful phrases by 2 yrs • Or any loss of social or language skills at any time
  11. 11. Behavior and interests • • • • • • Little symbolic play Ritualistic rigidity Preoccupation with parts of object Restricted and repetitive interest and behavior Child spends hours in solitary play Tantrum like rages can occur if there is any disruption in behavior
  12. 12. • Heightened awareness of and sensitivity to some stimuli and diminished response to pain • Lack of startle response to noises • Intellectual functioning can vary from MR to superior intellectual functioning(splinter skills, savant behavior). • 20% of patients have macrocephaly , enlarged head might not be apparent till age of 2 yrs
  13. 13. • echo what they have heard (echolalia) • Speech tends to be less flexible—for example, there is no appreciation that change in perspective or speaker requires pronoun change; this leads to pronoun reversal. • The child may develop an interest in a repetitive activity—for example, collecting strings and using them for self-stimulation, memorizing numbers, or repeating certain words or phrases. • Stereotyped movements may include toe walking, finger flicking, body rocking, and other mannerisms; these are engaged in as a source of pleasure or selfsoothing. • The child may be preoccupied with spinning objects— for example, he may spend long periods watching a ceiling fan rotate. • prosody is the rhythm, stress, and intonation of speech
  14. 14. Diagnostic Criteria Autism is characterized by deficits in 3 core areas before age 3 At least 6 items are needed for diagnosis* Social Interaction(2) Communication (1) Behavior (1) • Marked impairment in multiple nonverbal behaviors • Delay in, or total lack of, development of spoken language • Failure to have developmentally appropriate peer relationships • Marked impairment in ability to initiate or sustain conversation • Preoccupation with 1/more stereotyped and restricted patterns of interest that are abnormal in intensity or focus • Lack of showing, bringing, or pointing out objects of interest • Lack of social or emotional reciprocity • Stereotyped and repetitive use of language, or use of idiosyncratic language (echolalia, pronoun reversals, odd cadence, scripting) • Lack of varied, spontaneous makebelieve play or social imitative play appropriate to developmental level *DSM-IV TR. Washington, DC: American Psychiatric Association; 2000. • Apparently inflexible adherence to specific, nonfunctional routines or rituals • Stereotyped and repetitive motor mannerisms • Persistent preoccupation with parts of objects
  15. 15. Diagnosis
  16. 16. • • • • AD is diagnosed by clinical examination Detailed developmental history H/o seizures,sensory deficits Or H/S/O any other medical condition : fragile x prader villi SLOS Rett angelmann syn NF Congenital rubella TS untreated PKU • A review of past and present psychotropic medicines
  17. 17. • Gold standard diagnostic tools are a. Autism diagnostic interview-Revised(ADI-R) b.Autism diagnostic observation schedule(ADOS) • Intelligence test should be done to establish cognitive function and eligibility for services • Generally falls in functionally retarded range 30%-60% • A measure of adaptive functioning such vineland adaptive behavioral skills is essential to establish priorities for treatment planning • Medical and genetic evaluation as stated in furthur slides • In absence of any neurologic signs or dysmorphic features any neuroimaging is not indicated.
  18. 18. MEDICAL AND GENETIC EVALUATION OF CHILDREN WITH PERVASIVE DEVELOPMENTAL DISORDERS Required evaluations • Careful physical evaluation to identify dysmorphic features • Macrocepahaly • Woods lamp exam. For tuberous sclerosis • Formal audiologic evaluation • Karyotyping • Molecular DNA testing for Fragile X Syndrome
  19. 19. Consider further investigations if above tests are normal and in children with combined co morbid mental retardation • FISH test for 15q11q13 to rule out duplication of prader villi syndrome • FISH test for telomeric abnormalitites • Test for mutation in MECP2 gene • DNA testing for fragile x syndrome
  20. 20. Other Testing based on clinical features • • • • • Liver enzymes T3, T4 , TSH Biotinidase Complete blood count Ceruloplasmin and serum copper
  21. 21. Metabolic testing to consider based on other clinical features • • • • • • • • • • • • Fasting RBS Plasma AA Ammonia and lactate Fatty acid profile Carnitine Acetyl carnitine Homocystine Plasma dehydrocholesterol (SLOS) Urine amino acids Urine organic acids Urine testing for purines and pyrimidines Urine acyl glycine, random
  22. 22. EEG if following features are noted • Clinically observable seizures are present • H/o significant regression in social and communication function • FISH
  23. 23. Surviellance and Screening Algorithm Autistic Spectrum Disorder
  24. 24. Children and Adolescents With Autistic Disorder: The Treatment Team Child Psychiatrist Psychologist General or Developmental Pediatrician Effective patient care may include an interdisciplinary treatment team Pediatric Neurologist Speech Pathologist Teachers Social Worker Parents The Autism Society. http://www.autism-society.org/site/PageServer?pagename=about_whatis_diagnosis. Accessed 11.15.06
  25. 25. • Early childhood intervention programs are available: -beginning early interventions -intensive interventions -low student to teacher ratio -parent training -promoting opportunities for interaction with peers strategies to apply learned skills to new environments and situation -curricula that address functional spontaneous communication , social skills, adaptive skills, reduction of maladaptive behavior
  26. 26. • Names of some programs - Applied behavioral analysis - Discrete trial training - Treatment and education of autistic and related communication handicapped children
  27. 27. • Parents training includes addressing to child's need, providing emotional support, providing access to needed ongoing services • Older children and adolescents can benefit from more intensive behavioral or cognitive behavioral therapy • Pharmacotherapy can increaseability of person with AD to benefit from ongoing behavioral interventions. • Pharmacotherapy should be initiated if co-morbid conditions are present like aggression, self injurious behavior, hyperactivity, inattention , anxiety, mood lability , irritability, compulsive like behavior, stereotypic behavior, sleep disturbances
  28. 28. Pharmacotherapy • SSRIs: fluoxetine, fluvoxamine, citalopram, escitalopram, paroxetine, sertraline • Stimulants: methylphenidate, dextroamphetamine, mixed amphetamine salts • Atomoxetine • Atypical antipsychotic agents: risperidone, aripiprazole, olanzapine, quetiapine, ziprasidone • α2-Agonists: clonidine, guanfacine • Mood stabilizers (levetiracetam, topiramate, valproic acid) • β-blockers (propranolol, nadolol, metoprolol, pindolol) • Melatonin • Ramelteon • Antihistamines (diphenhydramine, hydroxyzine) • Buspirone • Anticonvulsant mood stabilizers (carbamazepine, gabapentin, lamotrigine, oxcarbazepine, topiramate, valproic acid) • Lithium
  29. 29. Pharmacotherapy • Repetitive behavior, behavioral rigidity,OC symtoms Co existing diagnosis:OCD, Stereotypic movement disorder Rx:SSRI • HIA:Hyperacitvity, inattention,impulsivity Co existing diagnosis: ADHD Rx:Stimulants Atomoxetine Atypical antipsychotics alpha agonists Mood stabilizers SSRI Beta blocker
  30. 30. • Sleep dysfunction Co existing diagnosis: Circadian rhythm sleep disorder NOS Rx: Melatonin ramelteon Antihistaminics alpha agonists Mirtazapine • Anxiety Co existing diagnosis: GAD, Anxiety disorder NOS Rx: SSRI Buspirone Mirtazapine • Depressive phenotype: marked change from base line including social withdrawl, irritability ,sadness or crying spells, decreased energy anorexia , wt loss , sleep dysfunction Co existing diagnosis: Major depressive disorder, depressive disorder NOS Rx: SSRI Mirtazapine
  31. 31. • Depressive phenotype: marked change from base line including social withdrawl, irritability ,sadness or crying spells, decreased energy anorexia , wt loss , sleep dysfunction Co existing diagnosis: Major depressive disorder, depressive disorder NOS Rx: SSRI Mirtazapine • Bipolar phenotype: behavioral cycling with rages and euphoria, decreased need for sleep, manic like hyperactivity, irritability, aggression , self inury, sexual behavior Co existing diagnosis: Bipolar 1 disorder Bipolar disorder NOS Rx: Anticonvulsant mood stabilizers Atypical antipsychotic agents Lithium
  32. 32. Prognosis • with earlier intervention, long-term outcome improves for many individuals, with perhaps 15 percent able to achieve independence and self-sufficiency in adulthood and, perhaps, another 20 percent of individuals able to function with occasional support. • Overall cognitive ability in the normal range is a positive prognostic sign. • During adolescence, some autistic children may exhibit behavioral deterioration; for a minority among these, the decline in language and social skills may be associated with the onset of a seizure disorder.
  33. 33. Asperger Syndrome
  34. 34. • qualitative impairment in the development of reciprocal social interaction • often show repetitive behaviors with restricted, obsessional, and idiosyncratic interests • DSM IV criteria in next slide • history of normal language milestones with single words used by age 2 yr and communicative phrases used by age 3 yr • deficits in nonverbal and pragmatic aspects of communication (facial expressions, gestures) • do not have the severe language delays and impairments that characterize AD. • Neuropsychologic testing can reveal a pattern consistent with nonverbal learning disability. • children appear to others to be peculiar or eccentric
  35. 35. • can be awkward and clumsy and have unusual postures and gait. • often similar traits in family members • represent a form of high-functioning AD (controvversial)
  36. 36. DSM 4 Criteria for Asperger Syndrome • (I) Qualitative impairment in social interaction, as manifested by at least two of the following: (A) marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body posture, and gestures to regulate social interaction (B) failure to develop peer relationships appropriate to developmental level (C) a lack of spontaneous seeking to share enjoyment, interest or achievements with other people, (e.g.. by a lack of showing, bringing, or pointing out objects of interest to other people) (D) lack of social or emotional reciprocity • (II) Restricted repetitive & stereotyped patterns of behavior, interests and activities, as manifested by at least one of the following: (A) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus (B) apparently inflexible adherence to specific, nonfunctional routines or rituals (C) stereotyped and repetitive motor mannerisms (e.g. hand or finger flapping or twisting, or complex whole-body movements) (D) persistent preoccupation with parts of objects • (III) The disturbance causes clinically significant impairments in social, occupational, or other important areas of functioning. (IV) There is no clinically significant general delay in language (E.G. single words used by age 2 years, communicative phrases used by age 3 years) (V) There is no clinically significant delay in cognitive development or in the development of ageappropriate self help skills, adaptive behavior (other than in social interaction) and curiosity about the environment in childhood. (VI) Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia. A child who has some symptoms but who does not meet full criteria for AD or Asperger's disorder is diagnosed as PDD Not Otherwise Specified. This “atypical autism” has a lifelong course with variable outcome and is often associated with comorbid psychiatric disorders.
  37. 37. Treatment • CBT • Group social skills training is an effective intervention • risperidone can improve negative symptoms similar to those seen in schizophrenia
  38. 38. Prognosis • Children with Asperger's disorder tend to improve symptomatically and functionally as they mature, with superior IQ conveying an improved prognosis • 30% of children with this disorder develop comorbid psychiatric disorders.
  39. 39. Retts Disorder
  40. 40. Diagnostic Criteria A. All of the following: (1) apparently normal prenatal and perinatal development (2) apparently normal psychomotor development through the first 5 months after birth (3) normal head circumference at birth B. Onset of all of the following after the period of normal development: (1) deceleration of head growth between ages of 5 and 48 months (2) loss of previously acquired purposeful hand skills between ages of 5 and 30 months, with the subsequent development of stereotyped hand movements (e.g., hand wringing or hand washing) (3) loss of social engagement early in the course (although often social interaction develops later) (4) appearance of poorly coordinated gait or trunk movements (5) severely impaired expressive and receptive language with severe psychomotor retardation
  41. 41. • Estimates of the prevalence of the condition range from 1 in 15,000 to 1 in 22,000 females • Recently, a gene, MECP2, has been found to be involved in most cases. • The lack of social interest and potential for misdiagnosis of autism is greatest in the preschool years • usually, by the time the child reaches school age, the autistic-like features are less prominent and development plateaus for a time(pseudostationary phase) • During this plateau, or “pseudostationary” phase, breathing difficulties, bruxism, motor problems, and early scoliosis may be noted. Apneic episodes may alternate with hyperventilation. • EEG is frequently abnormal and seizures are common.
  42. 42. Course and Prognosis • Rett's syndrome is a progressive neurodegenerative condition. As adults, patients may be nonambulatory due to motor problems and scoliosis. There is increased risk of sudden death.
  43. 43. Rx • no specific treatments for Rett's syndrome • Special education, behavior modification, physical, and respiratory therapies may be useful • caution is needed with use of medications that lower the seizure threshold.
  44. 44. Childhood Disintegrative Disorder • Childhood disintegrative disorder is a rare condition characterized by a marked regression in multiple areas of development after several years of normal development. • originally termed the condition dementia infantilis; subsequently, it has also been termed disintegrative psychosis or Heller's syndrome
  45. 45. • Table 38-6 DSM-IV-TR Criteria for Childhood Disintegrative Disorder A. Apparently normal development for at least the first 2 years after birth, as manifested by the presence of age-appropriate verbal and nonverbal communication, social relationships, play, and adaptive behavior. B. Clinically significant loss of previously acquired skills (before age 10 years) in at least two of the following areas: (1) expressive or receptive language (2) social skills or adaptive behavior (3) bowel or bladder control (4) play (5) motor skills .
  46. 46. C. Abnormalities of functioning in at least two of the following areas: (1) qualitative impairment in social interaction (e.g., impairment in nonverbal behaviors, failure to develop peer relationships, lack of social or emotional reciprocity) (2) qualitative impairments in communication (e.g., delay or lack of spoken language, inability to initiate or sustain a conversation, stereotyped and repetitive use of language, lack of varied make-believe play) (3) restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, including motor stereotypies and mannerisms D. The disturbance is not better accounted for by another specific pervasive developmental disorder or by schizophrenia
  47. 47. • As with autism, use of special education and behavioral treatments is indicated to help encourage reacquisition of skills. There are no specific pharmacological treatments
  48. 48. REFERENCE • Nelson Textbook of Pediatrics 19th Edition • Kaplan's Comprehensive Textbook of Psychiatry 8th Edition