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Pediatrics Exam 4 > Common Developmental/Intellectual Disabilities > Flashcards

Common Developmental/Intellectual Disabilities Flashcards

1
Q

Autism spectrum disorders (ASD)

A

*Continuum of developmental disorders characterized by early-onset difficulties:
* social communication
* social interaction
* restricted & repetitive physical & cognitive behaviors

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2
Q

Obstetric history risk factors for ASD

A
  • Meconium aspiration
  • Birth injury/trauma
  • Congenital malformations
  • Anemia
  • ABO/Rh incompatibility
  • Prenatal valproate (Depakote®)
    exposure
  • Genetic heritability
  • ↑ parental age (esp >35 yo)
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3
Q

Etiology of ASD

A

*Unknown cause
*ASD has been associated with abnormalities in brain structure, connectivity,
& function
*ASD may be associated with hyperserotonemia or reduced Gama-
aminobutyric-acid (GABA) & receptors

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4
Q

Autism Spectrum Disorder Onset usually before age _____

A

36 months
* History of impaired communication
* verbal & nonverbal
* echolalia
* repetition of another person’s speech
* limited eye contact

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5
Q

History of Present Illness for ASD Children < 6 years old

A
  • Impaired & delayed comprehension
  • Difficulties with grammar & word sounds
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6
Q

ASD HPI for Children ≥ 6 years old

A
  • Relatively intact articulation & syntax if early language development
    difficulties have been resolved
  • Deviant pragmatics, semantics, morphology
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7
Q

Early deficits that may signal an ASD

A

*No appropriate or engaging gaze with caregiver
*No “turn taking” in conversations
* ~6 months old
*No response to primary caregiver’s voice
*Aware of sounds, does not respond to speech
*Delayed onset of babbling
*↓ or lack of gestures for communication
*No typical expressions (ie “uh-oh”)
*No response or interest to neutral conversational phrases

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8
Q

Sensory-motor symptoms of ASD

A
  • may include hypo/hypersensitivity to stimuli
  • oral or dermal aversions
  • hyperacusis
  • Repetitive, nonfunctional, atypical behaviors
  • hand flapping, rocking, twirling, finger movements
  • Possible poor motor development, coordination
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9
Q

Family History features with ASD

A
  • ASD or similar features in the family
  • speech or language difficulties
  • psychiatric disorders
  • learning disabilities
  • seizures or developmental neurologic
    problems
  • Problems impacting child behavior
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10
Q

M-CHAT screen

A

Can identify Autism by age 2
▪1st autism screen is recommended at 18 months
▪2nd autism screen is recommended at 24-30 months

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11
Q

Treatment & Referral for ASD

A

▪NO CURE, but treatment can help
▪Refer to specialists experienced in assessment of ASD
▪Children with ASD who begin treatment before 3-3 1⁄2 years make the
greatest gains with intervention
*Early intensive behavioral intervention for children with ASD is essential

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12
Q

What early intervention is recommended for ASD?

A
  • Begin ASAP
  • ~25 hours of intervention/week
  • Parent need to be trained & involved in their child’s tx
  • Intervention focuses on
  • Communication
  • Social interaction
  • Play skills
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13
Q

Tx psych comorbidities of pts with ASD

A

anxiety, ADHD, depression

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14
Q

Diagnosis of Trisomy 21

A

*Often identified prenatally
* Invasive testing
* Amniocentesis ≥ 15 weeks gestation
* Chorionic Villus Sampling (CVS) - A sample from the villi of the
chorion (fetal part of the placenta)
* Cordocentesis- percutaneous umbilical blood sample

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15
Q

______ has higher sensitivity & specificity for trisomy 21 than standard screening

A

Maternal plasma cell-free DNA testing

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16
Q

Clinical Presentation of Trisomy 21

A

*Intellectual disability (IQ → 20-75)
*Language delays in childhood
*Characteristic facies
*Hand anomalies
*Congenital cardiac defectsj (~50%)
*Atlantoaxial hypermobility
* 18-38% Psychiatric d/o (ADHD,
conduct/oppositional d/o, Autism,
Depression)
* Frequent infections
* ↓ Thyroid function
* Intestinal malabsorption
* ↑ insulin resistance & DM
* Premature senescence
* Leukemia predisposition

17
Q

Diagnosis of Trisomy 21

A
  • Usually made prenatally
  • Definitive diagnosis by chromosomal analysis
  • Prenatal screening (prior to 20 weeks gestation)
  • Combination of maternal serum biomarkers & ultrasonography can
    detect up to 95% of pt. affected by Down syndrome [False (+) = 5%]
  • Labs
  • Karyotype (others as indicated)
18
Q

Management of Trisomy 21

A
  • Typical immunizations & well-child care should be performed as the
    American Academy of Pediatrics recommends.
  • Monitor for associated conditions as the child grows older
  • Treat as appropriate
  • Special considerations for surgical airway management
  • Atlantoaxial instability
    *Monitor for obesity (↓ resting metabolic rate)
    *Monitor for hearing loss, sleep apnea
19
Q

Clinical Presentation of Fragile X Syndrome

A
  • Developmental delay
  • Speech delay, esp in boys
  • Motor delay
  • Behavioral concerns
  • Cognitive deficits
  • Joint laxity/hypermobility (esp. fingers)
  • Developmental dyplasia of the hip
  • Flat feet (pes planus)
  • Scoliosis
  • Club foot
  • Sleep apnea
  • Vesicoureteral reflux
  • Mitral valve prolapse (50% adults)
20
Q

Management of Fragile X Syndrome

A
  • Early Intervention Program/Special Ed.
  • Speech/language & occupational therapy
  • Neuropsychological consult (IQ testing)
  • Treat Behavioral Comorbidities
  • Pharmacological & psychological tx
  • Registered Dietitian
  • Consider vocational training for adolescents & adults
21
Q

Fetal Alcohol Spectrum Disorder

A

A broad range of birth defects & developmental disabilities result from
prenatal exposure to alcohol.
No alcohol dose or time window of pregnancy has been established as safe for alcohol consumption.

22
Q

Teratogenic effects of Fetal Alcohol
Spectrum Disorder

A

*Damages cellular & mitochondrial
DNA → neuronal cell apoptosis
* ↓ cranial neural crest cells → FASD facial features
* ↓ serotonergic neurons → neuropsychiatric deficits
*Effects on placenta - ethanol-induced ↓ in nitric oxide levels causes
vasoconstriction, resulting in ↓ blood flow & ↓ oxygen delivery to fetus

23
Q

Clinical Presentation of Fetal Alcohol
Spectrum Disorder

A

*Prenatal alcohol exposure
*Ht, Wt, or head circumference ≤ 10th %
*Characteristic facial anomalies
* Central nervous system abnormalities
* Developmental delay
* Intellectual disability

24
Q

Diagnosis of Fetal Alcohol Spectrum Disorder

A
  • Prenatal alcohol exposure*
  • 3 characteristic facial anomalies
  • Score 4 or 5, 5-point Lip-Philtrum Guide
    *lack of confirmed prenatal alcohol exposure does not preclude diagnosis of fetal alcohol syndrome if all other clinical characteristicsare present
25
Q

Fetal Alcohol
Spectrum Disorder management

A
  • Effects of prenatal exposure to alcohol may be lifelong and are often irreversible
  • Manage behavioral and cognitive deficits
  • Early intervention services
  • Treat comorbid behavioral conditions
  • Counseling for patients and parents
  • Avoid overstimulating environments
26
Q

Complications of Fetal Alcohol
Spectrum Disorder

A
  • Conduct, & oppositional defiant disorders
  • Receptive language disorder
  • Chronic serous otitis media
  • Expressive language disorder
  • Peripheral nervous system, special senses abnormalities
  • Mood, anxiety, & adjustment disorders
  • sleep disorders

Pediatrics Exam 4 (7 decks)

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