WEEK 4: Autism & ADD Flashcards

1
Q

State the 3 autism spectrum disorders.

A

*Autism
*Asperger’s syndrome
*Pervasive developmental disorder

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2
Q

Name the syndrome that was initially classified as autism spectrum disorder but is now no longer under that.

A

(Rett’s syndrome previously classified as an ASD)

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3
Q

What is autism spectrum disorder?

A

ASD = continuum of neurodevelopmental disorders characterized by:

*Deficits in social communication and interactions,
along with restrictive, repetitive patterns of behaviors, interests, and activities.

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4
Q

State the signs and symptoms of autism.
1. Social Communication

A

*Mute/silent

*Significant language delay

*Regression in language

*If speaks, may have echolalia (repeating words or phrases previously heard)

*Some develop language normally, but only speak tangentially about specific interests without any concern for the listener’s response

*Trouble modulating vocal tone (monotone)
Inability to initiate or sustain a conversation with others.

*Direct eye contact may be difficult or avoided

*Trouble with establishing relationships with same-aged peers

*Impair ability to maintain joint attention, read body language, respond to nonverbal cues

*Not responding to their name at 12 months

*18mo inability to point to a desired object

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5
Q

State the ASD Symptoms & Signs:
2. Repetitive & Restrictive Behaviors

A
  1. Strongly desire rigid routine
    -Greeting rituals
    -Need to take same route
    -Eat same food every day
  2. Extremely distressed if deviation from routine
  3. Intense preoccupation with parts of an object (spinning wheels on a toy car)
  4. Highly fixated interests that are abnormal in intensity or focus
  5. Repetitive motor movements:
    -Hand-flapping
    -Rocking
  6. Lining up of toys
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6
Q

State the ASD Symptoms & Signs:
3. Hypersensitivity or hyposensitivity to any of the 5 senses:

A

-Apparent indifference to pain/temperature
-Adverse response to specific sounds or textures
-Excessive smelling or touching of objects
-Visual fascination with lights or movements

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7
Q

ASD is diagnosed via the Diagnostic & Statistical manual of Mental Disorders, Fifth Edition (DSM-V).

May 2013, DSM-V Criteria to diagnosis ASD, child needs to meet criteria in A, B, C, D and E.

State the 5 criteria.

A

A. Persistent deficits in social communication and social interaction

B. Restricted, repetitive patterns of behavior

C. Symptoms must be present in early development.

D. Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.

E. These disturbances are not better explained by intellectual disability or global developmental delay.

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8
Q

Autism Spectrum Disorder: DSM-V Criteria

Children who meet DSM-V Criteria for ASD are often diagnosed by how many years old?

Difficulties with functioning may not be noticeable until school-age.
Why?

A

Children who meet DSM-V Criteria for ASD are often diagnosed by 2-3 years.

Subtle cases occur in children with minimal intellectual dysfunction and better language skills.

Difficulties with functioning may not be noticeable until school-age, when social demands become greater.

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9
Q

State some ASD Co-Occurring Diagnosis

A

Intellectual disability
Sleep disorders
Constipation
Irritability
Anxiety
ADHD
Disruptive behaviors
Obsessive-Compulsive Disorders
Depression

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10
Q

Epidemiology of ASD.

What is the prevalence of ASD in U.S ratio?

State the male: female ratio.

Represents an increase of _______ compared with the 2006 estimate of 1 in 110 children.

Steady increase for last two decades, has become U.S. urgent public health concern.

A

Prevalence of ASD in U.S: 1 in every 88 children

Males 4:1 female

Represents an increase of 23% compared with the 2006 estimate of 1 in 110 children.

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11
Q

State the reasons for increase in ASD cases.

A

Reasons for the increase:
*Diagnostic substitution
*Better screening
*Better ascertainment
*Broader definition of autism
*Biggest increase is among higher-functioning patients with less severe disease and African American and Hispanic populations

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12
Q

Etiology of ASD.

Cause not really known.

State the 2 most suspect causative agents.

Outline risk factors for ASD.

A

Cause not really known
But suspect Genetics & Environment

Factors that have been established as incurring risk:

*Prematurity
*Twins/multiple pregnancy
*Advanced paternal age at conception

No definitive environmental factors can predict diagnosis.

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13
Q

No measurable genetic abnormality when rigorously tested.

No definitive environmental factors can predict diagnosis.

Genetic & environmental factors likely have an equal effect on determining an autism diagnosis.

A
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14
Q

Certain genetic disorders are more likely to be associated with autism and should be considered when making a diagnosis of ASD.

Outline then and the potion of those people with ASD.

A
  1. Tuberous sclerosis: 20-40%
  2. Neurofibromatosis: 40-50%
  3. Angelman syndrome: 50%. deletions or mutations in the UBE3A gene on chromosome 15.
    4.Fragile X syndrome: 25% males, 6% females. Caused by a mutation in the FMR1 gene on the X chromosome
  4. Rett syndrome: All females. mutations in the MECP2 gene located on the X chromosome.
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15
Q

Vaccines and Autism??

A

VACCINES DO NOT CAUSE AUTISM!
VACCINES DO NOT CAUSE AUTISM!!
VACCINES DO NOT CAUSE AUTISM!!!

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16
Q

Describe the accusation of some vaccines causing autism came about.

A

In1998 a British physician, Andrew Wakefield, published a paper in the Lancet that claimed vaccines were a causative agent for autism, this was a study done on only 12 children.

Later it was found that he had falsified information.

He was also taken off the Medical Registrar in UK and the Lancet retracted his paper.

Several studies have been done and all have refuted his original paper, the most recent done by Maglione et al “Safety of Vaccines Used for Routine Immunizations of US Children: A Systematic Review” June 2014:

“The authors present high-quality evidence that there is no association of autism with the measles, mumps, and rubella (MMR) vaccine.”

17
Q

Since there is no definitive factors that can predict diagnosis, the paediatric clinician’ ability to screen children early for autism becomes extremely important.

When can diagnosis be reliably made?

A

Since there is no definitive factors that can predict diagnosis, the paediatric clinician’ ability to screen children early for autism becomes extremely important.

Diagnosis can reliably made by made in the second year of life.

Children suspected of having ASD through screening must be further evaluated ASAP.

AAP in 2007: recommended that all 18-24mo children be screened for ASD.

Early diagnosis is important to allow early intervention of management.

18
Q

State the Screening Tools for ASD.

A

*Infant and toddler checklist (9-24 months)
*Modified Checklist for Autism in toddlers (M-CHAT): 16-30 months
*Childhood Autism Screening test: 11-14 years

19
Q

Describe the Initial Work-Up for ASD.

A
  1. Complete physical exam, especially neurologic exam (macrocephaly, hypotonia, oddities (toe-walking), dysmorphic features (syndromes?), neurocutaneous skin findings (NF, TS?)
  2. Medical & Family History, development & behavioral issues.
20
Q
  1. Children with developmental delay should be immediately referred to what early intervention programs; especially <3yo?
A

*Speech therapist
*Physiotherapist
*Occupational therapist

21
Q

Initial Work-Up

What tests should be done for the following:

  1. Language delay
  2. Lead exposure, Fragile X Syndrome,
A
  1. Language delay  Audiology testing
  2. Lead exposure, Fragile X Syndrome, Comparative Genomic Hybridization Array
  3. Further testing determined by physical exam and history
  4. Reserved: neuroimaging, ECG, metabolic testing, unless indicated from PE, Hx
22
Q

Diagnostic dilemmas occur when certain disorders are paired together and can simulate a diagnosis of autism.

State some Differential Diagnosis for ASD.

A

*Language disorder + ADHD

*Intellectual disability + visual impairment

*Harsh psychosocial conditions (PTSD, child abuse)

23
Q

Evidence-Based Treatments.

Describe the ABA. (Applied Behavioral Analysis)

A
  1. Behavioral and psychological interventions

*Applied Behavioral Analysis (ABA)

A behavioral treatment approach designed to increase socially appropriate behavior.

Focuses on identifying the function of problem behavior and building skills to improve such behaviors.

Teaches specific behaviors in a systematic manner in the context of repeated trials.

ABA results in improvements in communication, social relatedness, and decreasing repetitive behaviors.

Extremely labor intensive and expensive, may be needed for several years.

24
Q

State some Resources for Pediatricians & Families.

A
  1. Autism Toolkit (screen, identify, & treat children with ASD)
  2. Autism Speaks (advocacy and science organization dedicated to the needs of individuals and families struggling with autism)
  3. Autism Case Training (learning tool for residents and pediatricians)