Developmental Disabilities and Pervasive Developmental disorders

1
Developmental Disabilities and Pervasive
Developmental disorders

• Dr. Sophia Hrycko
• April 4, 2012

2
Objectives

• To review Developmental Disabilities
• To review Pervasive Developmental Disorders (will
  only review questions, as topic was covered
  earlier today)
• To discuss comorbidity and treatment options

3
Case

• A 12 y old girl is brought to the Emergency by 2
  police officers because of suicidal ideation.
• She is in handcuffs.
• She is screaming, bit her mouth, blood is smeared
  all over her T-shirt, face and hands.
• You are paged urgently.
• Think about what you want to ask, we will come
  back to this

4
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 (helpful
  when you try to take a history, as it can guide
  some of your questions)

5
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

6
TABLE 213. 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.
7
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

8
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

9
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

10
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

11
3

• The DSM-IV-Tr criteria for mental retardation
  include ALL of the following essential features
  EXCEPT
• A. Subnormal intellectual functioning
• B. Commensurate deficits in adaptive functioning
• C. Onset before 18 years of age
• D.IQ less than 75

12
3A

• The DSM-IV-Tr criteria for mental retardation
  include ALL of the following essential features
  EXCEPT
• A. Subnormal intellectual functioning
• B. Commensurate deficits in adaptive functioning
• C. Onset before 18 years of age
• D.IQ less than 75 (less than 70)

13
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.

14
Etiology

• Genetic
• Down syndrome
• Fragile X
• Prader-Willi syndrome
• PKU
• Neurofibromatosis
• Tuberous sclerosis
• Developmental/Acquired
• Environmental/social
• (organic cause about 50, pre/peri/post natal
  insult)

15
4

• 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

16
4A

• 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

17
Acquired/developmental

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

18
Environmental/Social

• Toxic exposure lead
• Severe Psychosocial deprivation
• Failure to thrive
• Abuse
• Neglect
• Attachment disorder

19
5

• A. Adrenoleukodystrophy
• B. Retts 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

20
5A

• A. Adrenoleukodystrophy
• B. Retts 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

21
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.

22
6

• 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

23
6A

• 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

24
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

25
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 gt CT if physical findings
• Shevell et al Neurology 2003 60367-380

26
Down Syndrome

• 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 gt auditory processing
• Increased risk of depression and dementia as adult

27
Fragile X

• Mutation of the FMRI gene at Xq27.3. Full
  mutation CGG trinucleotide repeat gt 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

                                         
28
Men and boys with fragile-X syndrome, showing
classical facial features
29
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

30
7

• 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

31
7A

• 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

32
8

• 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

33
8A

• 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

34
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

35
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.

36
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

37
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

38
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.
39
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

                                                
                             
40
9

• True or False Relative to the general
  population, people with MR are more likely to
  show autism, behavior disorders, substance abuse,
  and affective disorders.

41
9A

• True or False Relative to the general
  population, people with MR are more likely to
  show autism, behavior disorders, substance abuse,
  and affective disorders.
• MR more likely to show psychosis, autism,
  behavior disorders and less likely to be
  diagnosed with substance abuse and affective
  disorder.

42
Fetal Alcohol Syndrome

•                                                
                                                    
                                         

43
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, LD, behavior problems

44
10

• A. Prader-Willi syndrome
• B. Downs 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

45
10A

• A. Prader-Willi syndrome
• B. Downs 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

46
11

• 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

47
11A

• 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)

48
Autistic Disorder Associated Features

• IQ below 70 for 75 of autistics
• Uneven cognitive skills
• Level of receptive language below expressive
  language
• Behavioral symptoms hyperactivity, impulsivity,
  aggressiveness, self-injurious behavior (head
  banging, finger/hand/wrist biting), temper
  tantrums
• Abnormal mood (giggling or weeping)
• Lack of fear

49
Evaluation ( PDD and MR)

• History
• Pregnancy, neonatal and developmental hx, medical
  hx, family and psychosocial factors, intervention
  hx.
• Psychiatric examination of the child
• Medical evaluation
• Physical exam, including neurological exam
• Audiological/visual exam
• Psychological evaluation
• Speech/language/communication assessment
• OT evaluation

50
Differential Diagnosis - PDD

• Various PDDs
• MR not associated with PDD
• Specific developmental disorder, e.g. language
• Early onset psychosis

51
Treatment Plan

• Multimodal
• Establish goals for educational interventions
• Establish target symptoms for intervention
• Prioritize target symptoms and/or co-morbid
  conditions
• Monitor multiple domains of functioning
  (behavioral adjustment, adaptive skills, academic
  skills, social/communicative skills, social
  interactions)
• Monitor pharmacological interventions for
  efficacy and side-effects.

52
Issues for MD providing care for individuals with
Developmental Disability

• Overall live longer now age related illnesses
• Coexisting physical and mental health needs
• Severity of functional limitation
• Quality of the environment
• Quality of the social support

53
Issues cont

• Health problems often present differently
• (11 y old autistic with moderate-severe DD
  presented with abscess secondary to perforated
  appendix)
• Less resources for adults with DD
• Poorer health î morbidity, earlier mortality
• Difficulty communicating pain/distress
  non-specific change in behavior may be the only
  indication of medical illness or injury

54
Issues cont

• Multiple or long-term use of some medication can
  cause harm do review Q3mo indication, dose,
  effectiveness, S/E
• At Î risk of abuse/neglect could present with
  change in wt, non-compliance, aggression,
  withdrawal, depression, avoidance, poor
  self-esteem, etc.
• Monitor activity level obesity Î risk of CV
  disease, DM, osteoporosis, constipation, early
  mortality

55
Issues cont

• Vision/hearing problems often missed
• Dental disease most common health problem with
  adults with DD can present with change in
  behavior
• Cardiac Disease risk F inactive, obesity,
  smoking, long term use of antipsychotics
• Resp aspiration pneumonia most common cause of
  death (meds, neuromuscular dysf)
• GI/feeding problems Î risk of helicobacter
  pylori (GH, rumination, exposure to saliva/feces)

56
Issues cont

• Sexuality
• MSK scoliosis, contractures, spasticity,
  decreased mobility/activity
• Behavior problems aggression and self-injury.
  It may be a symptom of a health related disorder
  or circumstance, such as lack of support. BEFORE
  considering a psychiatric diagnosis, R/O physical
  causes (infection, constipation, pain,
  environment change in residence, support
  emotional stress, trauma, grief.. Dementia in
  older pt.

57
Behavior problems

• Do a functional analysis of the problematic
  behavior
• Consider decrease or removal of the medications
• Before considering pharmacological treatment
  address sensory issues, modify the environment,
  education and skill development, communication
  aids, psychological and behavior therapy,
  caregiver support

58
If you use medication to manage behavior

• Use judiciously
• Start slow, go slow
• Do NOT use antipsychotics as first line of
  treatment for behavior problems without confirmed
  diagnosis of psychotic disorders

59
Potential Targets for Pharmacotherapy

• Motor hyperactivity
• Inattention
• Repetitive behavior
• Motor and/or vocal tics
• Aggression
• Self-injury

60
Back to the Case

• A 12 y old girl is brought to the Emergency by 2
  police officers because of suicidal ideation.
• She is in handcuffs.
• She is screaming, bit her mouth, blood is smeared
  all over her T-shirt, face and hands.
• You are paged urgently.
• Think about what you want to ask, we will come
  back to this

61
You want to know

• What happened triggers
• Background recent changes?
• PMHx
• Past psych hx
• Meds
• Allergy

62
What next?

• Now that you know that she is deaf, likely has
  developmental delay, that she was abused, moved 3
  months ago to this group home. Lost her hearing
  aids.
• Is on Quetiapine 150 mg po QHS, 25 mg po QID PRN,
  clonidine 0.1 mg po QHS. That lorazepam made
  things worse.
• She is still in handcuff, screaming but
  medically cleared..

63
What are your options?

• Behavior Mod? In ER?
• Meds? In ER?

64
12

• Normal development for the 1st 6 mo, followed by
  a progressive encephalopathy
• A better prognosis than other PDD because of the
  lack of delay in language and cognitive
  development
• Some but not all the features of autistic
  disorder
• Occurrence at a rate of 2 to 10 per 10 000 and
  impairment in social interaction, communication
  (language or symbolic play) before age 3

• A. Autistic disorder
• B. Childhood disintegrative disorder
• C. Pervasive developmental disorder NOS
• D. Aspergers Disorder
• E. Retts disorder

65
12A

• Normal development for the 1st 6mo, followed by a
  progressive encephalopathy E
• A better prognosis than other PDD because of the
  lack of delay in language and cognitive
  development D
• Some but not all the features of autistic
  disorder C
• Occurrence at a rate of 2 to 10 per 10 000 and
  impairment in social interaction, communication
  (language or symbolic play) before age 3 A

• A. Autistic disorder
• B. Childhood disintegrative disorder
• C. Pervasive developmental disorder NOS
• D. Aspergers Disorder
• E. Retts disorder

66
13

• Which of the following chromosomal abnormalities
  is most likely to cause mental retardation?
• A. Extra chromosome 21 (trisomy 21)
• B. Fusion of chromosomes 21 and 15
• C. XO Turners syndrome
• D. XXY Kinefelters syndrome
• E. XXYY and XXXY Klinefelters syndrome
  variants

67
13A

• Which of the following chromosomal abnormalities
  is most likely to cause mental retardation?
• A. Extra chromosome 21 (trisomy 21)
• B. Fusion of chromosomes 21 and 15
• C. XO Turners syndrome
• D. XXY Klinefelters syndrome
• E. XXYY and XXXY Klinefelters syndrome
  variants

68
References

• http//www.mic.ki.se/Diseases/C16.html
• http//medgen.genetics.utah.edu/thumbnails.htm
• Fra X http//www.fraxa.org
• Handbook of Developmental Disabilities SL Odom,
  RH Horner, ME Snell, J Blacher eds. 2007 The
  Guilford Press
• Primary care of adults with developmental
  disabilities. Canadian consensus guidelines. Can.
  Fam. Physician. Vol 57 May 2011, 541-553

69
References

• Child Adol Psych Clin NA 16 (2007)
• Fragile X syndrome 663-675
• VCFS 677-693
• Praeder-Willi 695-708
• Fetal alcohol spectrum disorder Canadian
  guidelines for diagnosis AE Chudley, J Conry, JL
  Cook, C Loock, T. Rosales, N LeBlanc CMAJ Mar 1,
  2005 172 (5 suppl) S1-S21
• www.naddontario.org

70
References

• Volkmar F, Cook et al 1999. Practice parameters
  for the assessment and treatment of adolescents
  and adults with autism and other PDD. J. Am.
  Acad. Child Adol. Psych. 38 (12 suppl)
  32S-54S (erratum 2000 39 (7) 938 and 3812
  1611-1615
• Mental Retardation A Review of the Past 10
  Years. Part 1. B.H. King et al 1997. J. Am.
  Acad. Child Adole. Psych. 3612, 1656- 1663
  (16641671 for part II)

71
14

• A decline in IQ begins at approximately 10 to 15
  years in which of the following disorders?
• A. Downs syndrome
• B. Fragile X syndrome
• C. Cerebral palsy
• D. Nonspecific mental retardation
• E. Fetal alcohol syndrome

72
14A

• A decline in IQ begins at approximately 10 to 15
  years in which of the following disorders?
• A. Downs syndrome
• B. Fragile X syndrome
• C. Cerebral palsy
• D. Nonspecific mental retardation
• E. Fetal alcohol syndrome

73
15

• The most common inherited cause of mental
  retardation is
• A. Downs syndrome
• B. Fragile X syndrome
• C. Fetal alcohol syndrome
• D. Prader-Willi syndrome
• E. None of the above

74
15A

• The most common inherited cause of mental
  retardation is
• A. Downs syndrome (most common chromosomal
  abnormality leading to MR)
• B. Fragile X syndrome (most common
  inherited cause of MR)
• C. Fetal alcohol syndrome
• D. Prader-Willi syndrome
• E. None of the above

75
16

• Mild mental retardation has been associated with
• A. Nonspecific causes
• B. Prader-Willi syndrome
• C. Females with fragile X syndrome
• D. Poor socioeconomic background
• E. All of the above

76
16A

• Mild mental retardation has been associated with
• A. Nonspecific causes
• B. Prader-Willi syndrome
• C. Females with fragile X syndrome
• D. Poor socioeconomic background
• E. All of the above