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Developmental Disabilities and Pervasive Developmental disorders

Developmental Disabilities and Pervasive Developmental disorders. Dr. Sophia Hrycko April 15, 2010. Objectives. To review Developmental Disabilities To review Pervasive Developmental Disorders To discuss comorbidity and treatment options. Developmental Disability.

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Developmental Disabilities and Pervasive Developmental disorders

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  1. Developmental Disabilities and Pervasive Developmental disorders Dr. Sophia Hrycko April 15, 2010

  2. Objectives • To review Developmental Disabilities • To review Pervasive Developmental Disorders • To discuss comorbidity and treatment options

  3. Developmental Disability • Often diagnosed in infancy • Mental retardation is the result of a pathological process in the brain characterized by limitations in intellectual and adaptive function. • Areas of function affected: communication, self-care, independence, functional/academic skills, work, health, leisure, safety

  4. DSM-IV-TR • Mental retardation requires intellectual deficits (IQ measured by standardized test) and deficit in adaptive function (use of measure with deficits in at least two areas of deficits, Vineland Adaptive Behavior Scale: communications, daily living skills, socialization and motor skills) • Manifested before age of 18

  5. TABLE 21–3. Clinical features of mental retardation Source.Reprinted from American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, Text Revision. Washington, DC, American Psychiatric Association, 2000. Used with permission.

  6. #1 • DSM-IV-TR lists the prevalence of mental retardation in the US as • A. 1 % • B. 3% • C. 5% • D. 6% • E. None of the above

  7. #1A • DSM-IV-TR lists the prevalence of mental retardation in the US as • A. 1 % • B. 3% • C. 5% • D. 6% • E. None of the above

  8. #2 • When IQ is used as the sole criterion for mental retardation, the prevalence rate is estimated to be: • A. 0.5 % • B. 1% • C. 2 % • D. 3% • E. 10%

  9. #2A • When IQ is used as the sole criterion for mental retardation, the prevalence rate is estimated to be: • A. 0.5 % • B. 1% • C. 2 % • D. 3% • E. 10%

  10. Epidemiology • About 1 % of the population. • 1.5 time more common in men • High mortality rates with severe or profound MR because of complications associated with physical disorders.

  11. Etiology • Genetic • Down syndrome • Fragile X • Prader-Willi syndrome • PKU • Neurofibromatosis • Tuberous sclerosis • Developmental/Acquired • Environmental/social

  12. #3 • Moderate Mental retardation • A. Reflects an IQ range of 25 to 40 • B. Is seen in approximately 3 to 4 % of persons with mental retardation • C. Has an identifiable organic etiology in the vast majority of cases • D. Usually is associated with the ability to achieve academic skills at the second to 3rd grade level • E. All of the above

  13. #3A • Moderate Mental retardation • A. Reflects an IQ range of 25 to 40 • B. Is seen in approximately 3 to 4 % of persons with mental retardation • C. Has an identifiable organic etiology in the vast majority of cases • D. Usually is associated with the ability to achieve academic skills at the second to 3rd grade level • E. All of the above

  14. Acquired/developmental • Prenatal: rubella, CMV, Syphilis, Toxoplasmosis, Herpes, AIDS, fetal alcohol syndrome • Complications of pregnancy • Perinatal • Infection, head trauma, etc.

  15. A. Adrenoleukodystrophy B. Rett’s disorder C. Acquired immune deficiency syndrome AIDS D. Rubella E. Cytomegalic virus CMV F. Toxoplasmosis Mental retardation with periventricular intracerebral calcifications, jaundice, microcephaly and hepatosplenomegaly Progressive encephalopathy and MR in 50% of children born to mother with this disorder An X-linked MR syndrome that is degenerative and affects only females Diffulse demyelination of cerebral cortex leading to visual and intellectual impairment, seizures, and spasticity, and adrenocortical insufficiency MR, microcephay, microphthalmia, congenital heart disease, deafness, cataracts #4

  16. A. Adrenoleukodystrophy B. Rett’s disorder C. Acquired immune deficiency syndrome AIDS D. Rubella E. Cytomegalic virus CMV F. Toxoplasmosis (MR, diffuse intracerebral calcifications, hydrocephalus, seizures and chorioretinitis Mental retardation with periventricular intracerebral calcifications, jaundice, microcephaly and hepatosplenomegaly E Progressive encephalopathy and MR in 50% of children born to mother with this disorder C An X-linked MR syndrome that is degenerative and affects only females B Diffulse demyelination of cerebral cortex leading to visual and intellectual impairment, seizures, and spasticity, and adrenocortical insufficiency A MR, microcephaly, microphthalmia, congenital heart disease, deafness, cataracts D #4A

  17. Comorbidity • Up to 2/3 of individuals with MR have comorbid mental disorders. • The more severe the MR, the higher the risk for other mental disorders. • Disruptive and conduct-disorder behaviors are more frequent in Mild MR • Autistic disorder more common with severely retarded individuals.

  18. #5 • Common manifestations of anxiety in persons with mental retardation include • A. Aggression • B. Agitation • C. Repetitive behaviors • D. Self-injury • E. All of the above

  19. #5A • Common manifestations of anxiety in persons with mental retardation include • A. Aggression • B. Agitation • C. Repetitive behaviors • D. Self-injury • E. All of the above

  20. Evaluation • Complete history and physical exam • Will need to evaluate Intellectual function (WISC or WPPSI) and Adaptive function (Vineland Adaptive Behavior Scale) • Sensory screening ( speech, hearing) • Laboratory studies: • Genetic testing, metabolic testing, thyroid/lead screening, imaging

  21. Practice Parameters: Evaluation of child with Global Develop. Delay • Metabolic screening NOT indicated in initial evaluation (yield 1%) • Routine cytogenetic studies and molecular testing for FRA X mutation recommended (yield 3.5-10%) • Consider Rett syndrome in girls with unexplained moderate to severe delay • Serum lead when identifiable risk • EEG NOT recommended initially unless features of epilepsy • Imaging with MRI > CT if physical findings • Shevell et al Neurology 2003 60: 367-380

  22. Down Syndrome Down syndrome. Note depressed nasal bridge, epicanthal folds, mongoloid slant of eyes, low-set ears, and large tongue. • Trisomy 21, 95% nondisjunction • 1 in 1000 live births • 1 in 80 at 40 yrs • Hypotonia, upward slanted palpebral fissures, midface depression, flat wide nasal bridge, simian crease, short stature, increased incidence of thyroid anomaly and congenital heart disease. • Passive, affable • 25% ADHD • Verbal processing > auditory processing • Increased risk of depression and dementia as adult

  23. Fragile X • Mutation of the FMRI gene at Xq27.3. Full mutation: CGG trinucleotide repeat > 200 to 230 repeats • Prevalence 1/1000 male births and 1/3000 female birth • Second most known cause of MR of genetic origin (10-12% MR in men) • long face, large ears, midface hypoplasia, arched palate

  24. Fragile X • Macroorchidism • Short stature, strabismus, joint laxity • ADHD, anxiety, speech/language delays, shyness, irritability, stereotypies. LD in some female. • Male: moderate to severe MR • Female: mild MR

  25. #6 • Fragile X syndrome • A. Has a phenotype that includes postpubertal microorchidism • B. Affects only males • C. Usually causes severe to profound MR • D. Has a phenotype that includes large head and large ears. • E. All of the above.

  26. #6A • Fragile X syndrome • A. Has a phenotype that includes postpubertal microorchidism • B. Affects only males • C. Usually causes severe to profound MR • D. Has a phenotype that includes large head and large ears. • E. All of the above.

  27. #7 • Which of the following disorders is least often associated with Fragile X syndrome: • A. Autistic disorder • B. Schizotypal personality disorder • C. Attention deficit/hyperactivity disorder • D. Bipolar disorder • E. Social anxiety disorder

  28. #7A • Which of the following disorders is least often associated with Fragile X syndrome: • A. Autistic disorder • B. Schizotypal personality disorder • C. Attention deficit/hyperactivity disorder • D. Bipolar disorder • E. Social anxiety disorder

  29. Praeder-Willi Syndrome • Deletion on long arm of chr. 15q11-15q13 (70% paternal, rest maternal uniparental disomy) • 1 in 15 000 birth • Hyperphagia • Obesity • Small hands/feet • Short stature • Microorchidism • Fair hair/light skin • Almond shaped eyes

  30. Praeder-Willi Syndrome • Obsessions and compulsions • High rates of behavior problems: aggression, temper tantrums, emotional lability, daytime sleepiness • Increased risk for OCD, affective and impulse control disorders.

  31. Phenylketonuria • Autosomal Recessive defect in phenylalanine hydroxylase 12q.24.1 or cofactor 11q22.3-q23.3 • Cause accumulation of phenylalanine if untreated and will result in MR (mild to profound), microcephaly, delayed speech, seizures and behavior problems (self-injury, hyperactivity) • Prevalence 1/12 000 • Fair skin, blue eyes, blond hair

  32. Tuberous Sclerosis • Autosomal Dominant • Mutation in TSC1 gene (hamartin) 9q34 or the TSC2 tumor suppressor gene (tuberin) 16p13 • Prevalence 1/6 000 • Spectrum of MR, none (30%) to profound • Epilepsy, autism, hyperactivity, impulsivity, aggression, self-injurious behaviors, sleep problems

  33. Tuberous Sclerosis Figure 589-2 Tuberous sclerosis. A, CT scan with subependymal calcifications characteristic of tuberous sclerosis. B, The MRI demonstrates multiple subependymal nodules in the same patient (black arrow). Parenchymal tubers are also visible on both the CT and the MRI scan as low-density areas in the brain parenchyma.

  34. Neurofibromatosis type 1 • Autosomal dominant • 17q11.2 • Prevalence 1/3 000 • (NF2 1/33 000, 22q) • Café au lait spots • Neurofibromas • Short stature and macrocephaly in 30- 45% • 10 % with moderate to profound MR • ADHD, anxiety, mood problems

  35. Fetal Alcohol Syndrome

  36. Fetal Alcohol Syndrome • Most common preventable cause of MR • 1/3 000 live birth • Microcephaly, short stature, midface hypoplasia, short palpebral fissure • Thin upper lip, micrognatia, hypoplastic long/smooth philtrum • Mild to moderate MR, irritability, memory impairment

  37. A. Prader-Willi syndrome B. Down’s syndrome C. Fragile X syndrome D. Phenylketonuria Attributed to a deletion in chromosome 15 Most commonly occurs via autosomal recessive transmission Abnormalities involving chromosome 21 Occurs via a chromosomal mutation at Xq27.3 Example of a genomic imprinting #8

  38. A. Prader-Willi syndrome B. Down’s syndrome C. Fragile X syndrome D. Phenylketonuria Attributed to a deletion in chromosome 15 A Most commonly occurs via autosomal recessive transmission D Abnormalities involving chromosome 21 B Occurs via a chromosomal mutation at Xq27.3 C Example of a genomic imprinting A #8A

  39. Pervasive Developmental disorders • Autistic Disorder • Rett’s Disorder • Childhood Disintegrative Disorder • Asperger’s Disorder • Pervasive Developmental disorder NOS

  40. Autistic Disorder • Diagnostic Features • 3 main sets of behavioral characteristics:’ - Social abnormality - Language abnormality - Stereotyped repetitive pattern of behavior • Age of onset: prior to age 3 • Male/Female = 4/1 • Prevalence: 9.5 / 10 000 (range 2.3 to 30.8/ 10 000)

  41. Autistic Disorder • Course: variable, strongest predictive factors for adult outcome are IQ (below 70 is strongly indicative of poor social adjustment) and the level of language functioning at age 5 • Etiology: unknown, evidence of strong genetic component; abnormal serotonergic activity, hyperdopaminergic activity

  42. Diagnostic Criteria • Qualitative impairment in Social Interaction • Impairment in the use of multiple nonverbal behaviors: eye to eye gaze, facial expression, body postures and gestures to regulate social interaction • Failure to develop peer relationships appropriate to developmental level • Lack of spontaneous seeking to share enjoyment, interests or achievements with other people (not showing, bringing or pointing out objects of interests) • Absence of social or emotional reciprocity

  43. Cont. • Qualitative impairment in Communication • Delay in or total lack of, development of spoken language (no attempt to compensate with gestures or mime) • If speech present, marked impairment in the ability to initial or sustain conversation with others • Stereotyped and repetitive use of language or idiosyncratic language • Lack of varied, spontaneous make-believe play or social imitative play appropriate to develop. level

  44. Cont. • Restricted repetitive and stereotyped patterns of behavior, interest and activities • Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or in focus • Inflexible adherence to specific, nonfunctional routines or rituals • Stereotyped and repetitive motor mannerisms: hand or finger flapping or twisting, complex whole-body movements • Persistent preoccupation with parts of objects

  45. Consider Evaluation if by: • 12 months: No babbling or gesturing (pointing, waving bye-bye) • 16 months: No single words • 24 months: No spontaneous 2 word phrases (i.e. not just echolalia or repeating someone else’s words) • Any age: any loss of any language or social skills

  46. Consider Evaluation if • Especially when combined with language delays: • Abnormal eye contact • Aloofness • Not responding to one’s name • Not using gestures to point or show • Lack of interactive play • Lack of interest in other children

  47. #9 • Which of the following features does not distinguish autistic disorder from mixed receptive-expressive language disorder? • A. Echolalia • B. Stereotypies • C. Imaginative play • D. Associated deafness • E. Family history of speech delay

  48. #9A • Which of the following features does not distinguish autistic disorder from mixed receptive-expressive language disorder? • A. Echolalia • B. Stereotypies • C. Imaginative play • D. Associated deafness • E. Family history of speech delay (25% for both autistic and language disorders)

  49. #10 • Neurological-biochemical anomalies associated with autistic disorder include • A. Grand mal seizures • B. Ventricular enlargement on CT scan • C. EEG abnormalities • D. Increased brain volume • E. All of the above

  50. #10A • Neurological-biochemical anomalies associated with autistic disorder include • A. Grand mal seizures (4 to 32 %) • B. Ventricular enlargement on CT scan (20 to 25%) • C. EEG abnormalities • D. Increased brain volume (cerebellum, frontal lobe and limbic system) • E. All of the above

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