Transcript basic 2013 Dr Sophia Hrycko

Developmental Disabilities and
Pervasive Developmental
disorders
Dr. Sophia Hrycko
April 4, 2012
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
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……
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)
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
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.
#1

DSM-IV-TR lists the prevalence of
mental retardation in the US as





A.
B.
C.
D.
E.
1%
3%
5%
6%
None of the above
#1A

DSM-IV-TR lists the prevalence of
mental retardation in the US as





A.
B.
C.
D.
E.
1%
3%
5%
6%
None of the above
#2

When IQ is used as the sole
criterion for mental retardation, the
prevalence rate is estimated to be:





A.
B.
C.
D.
E.
0.5%
1%
2%
3%
10%
#2A

When IQ is used as the sole
criterion for mental retardation, the
prevalence rate is estimated to be:





A.
B.
C.
D.
E.
0.5%
1%
2%
3%
10%
#3
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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
#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)
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.
Etiology

Genetic

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Down syndrome
Fragile X
Prader-Willi syndrome
PKU
Neurofibromatosis
Tuberous sclerosis
Developmental/Acquired
Environmental/social
(organic cause about 50%, pre/peri/post
natal insult)
#4
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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
#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
Acquired/developmental


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Prenatal: rubella, CMV, Syphilis,
Toxoplasmosis, Herpes, AIDS, fetal
alcohol syndrome
Complications of pregnancy
Perinatal
Infection, head trauma, etc.
Environmental/Social


Toxic exposure: lead
Severe Psychosocial deprivation




Failure to thrive
Abuse
Neglect
Attachment disorder
#5
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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
#5A
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
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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
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.
#6

Common manifestations of anxiety
in persons with mental retardation
include





A.
B.
C.
D.
E.
Aggression
Agitation
Repetitive behaviors
Self-injury
All of the above
#6A

Common manifestations of anxiety
in persons with mental retardation
include





A.
B.
C.
D.
E.
Aggression
Agitation
Repetitive behaviors
Self-injury
All of the above
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
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
Down Syndrome

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
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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
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
Men and boys with fragile-X syndrome, showing
classical facial features
Fragile X



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
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
#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
#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
#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
#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
Praeder-Willi Syndrome





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
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
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
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.
Phenylketonuria


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
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 (selfinjury, hyperactivity)
Prevalence 1/12 000
Fair skin, blue eyes, blond hair
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, selfinjurious behaviors, sleep problems
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.
Neurofibromatosis type 1

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Autosomal dominant
17q11.2
Prevalence 1/3 000
(NF2 1/33 000, 22q)
Café au lait spots
Neurofibromas
Short stature and
macrocephaly in 3045%
10% with moderate to
profound MR
ADHD, anxiety, mood
problems
#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.
#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.
Fetal Alcohol Syndrome
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
#10
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
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
#10A




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
#11

Which of the following features does
not distinguish autistic disorder
from mixed receptive-expressive
language disorder?





A.
B.
C.
D.
E.
Echolalia
Stereotypies
Imaginative play
Associated deafness
Family history of speech delay
#11A

Which of the following features
does not distinguish autistic
disorder from mixed receptiveexpressive language disorder?





A.
B.
C.
D.
E.
Echolalia
Stereotypies
Imaginative play
Associated deafness
Family history of speech delay
(25% for both autistic and
language disorders)
Autistic Disorder Associated Features



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
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
Evaluation ( PDD and MR)

History



Psychiatric examination of the child
Medical evaluation




Pregnancy, neonatal and developmental hx,
medical hx, family and psychosocial factors,
intervention hx.
Physical exam, including neurological exam
 Audiological/visual exam
Psychological evaluation
Speech/language/communication
assessment
OT evaluation
Differential Diagnosis - PDD



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Various PDDs
MR not associated with PDD
Specific developmental disorder,
e.g. language
Early onset psychosis
Treatment Plan
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
Multimodal
Establish goals for educational interventions
Establish target symptoms for intervention
Prioritize target symptoms and/or comorbid 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.
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
Issues cont

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
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
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
Issues cont

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


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)
Issues cont



Sexuality
MSK: scoliosis, contractures, spasticity,
decreased mobility/activity
Behavior problems: aggression and selfinjury. 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.
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
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
Potential Targets for Pharmacotherapy




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Motor hyperactivity
Inattention
Repetitive behavior
Motor and/or vocal tics
Aggression
Self-injury
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……
You want to know






What happened: triggers
Background: recent changes?
PMHx
Past psych hx
Meds
Allergy
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”…..
What are your options?


Behavior Mod? In ER?
Meds? In ER?
#12






A. Autistic disorder
B. Childhood
disintegrative
disorder
C. Pervasive
developmental
disorder NOS
D. Asperger’s
Disorder
E. Rett’s disorder



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:
#12A





A. Autistic disorder
B. Childhood
disintegrative
disorder
C. Pervasive
developmental
disorder NOS
D. Asperger’s Disorder
E. Rett’s disorder




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
#13

Which of the following chromosomal
abnormalities is most likely to cause
mental retardation?





A.
B.
C.
D.
E.
Extra chromosome 21 (trisomy 21)
Fusion of chromosomes 21 and 15
XO Turner’s syndrome
XXY Kinefelter’s syndrome
XXYY and XXXY Klinefelter’s
syndrome variants
#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 Turner’s syndrome
D. XXY Klinefelter’s syndrome
E. XXYY and XXXY Klinefelter’s
syndrome variants
References





http://www.mic.ki.se/Diseases/C16.html
http://medgen.genetics.utah.edu/thumbnai
ls.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
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
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 38:12:
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. 36:12, 16561663 (1664–1671 for part II)
#14

A decline in IQ begins at
approximately 10 to 15 years in
which of the following disorders?





A.
B.
C.
D.
E.
Down’s syndrome
Fragile X syndrome
Cerebral palsy
Nonspecific mental retardation
Fetal alcohol syndrome
#14A

A decline in IQ begins at
approximately 10 to 15 years in
which of the following disorders?





A.
B.
C.
D.
E.
Down’s syndrome
Fragile X syndrome
Cerebral palsy
Nonspecific mental retardation
Fetal alcohol syndrome
#15

The most common inherited cause
of mental retardation is





A.
B.
C.
D.
E.
Down’s syndrome
Fragile X syndrome
Fetal alcohol syndrome
Prader-Willi syndrome
None of the above
#15A

The most common inherited cause
of mental retardation is





A. Down’s 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
#16

Mild mental retardation has been
associated with





A.
B.
C.
D.
E.
Nonspecific causes
Prader-Willi syndrome
Females with fragile X syndrome
Poor socioeconomic background
All of the above
#16A

Mild mental retardation has been
associated with





A.
B.
C.
D.
E.
Nonspecific causes
Prader-Willi syndrome
Females with fragile X syndrome
Poor socioeconomic background
All of the above