Common Developmental/Intellectual Disabilities Flashcards
(26 cards)
Autism spectrum disorders (ASD)
*Continuum of developmental disorders characterized by early-onset difficulties:
* social communication
* social interaction
* restricted & repetitive physical & cognitive behaviors
Obstetric history risk factors for ASD
- Meconium aspiration
- Birth injury/trauma
- Congenital malformations
- Anemia
- ABO/Rh incompatibility
- Prenatal valproate (Depakote®)
exposure - Genetic heritability
- ↑ parental age (esp >35 yo)
Etiology of ASD
*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
Autism Spectrum Disorder Onset usually before age _____
36 months
* History of impaired communication
* verbal & nonverbal
* echolalia
* repetition of another person’s speech
* limited eye contact
History of Present Illness for ASD Children < 6 years old
- Impaired & delayed comprehension
- Difficulties with grammar & word sounds
ASD HPI for Children ≥ 6 years old
- Relatively intact articulation & syntax if early language development
difficulties have been resolved - Deviant pragmatics, semantics, morphology
Early deficits that may signal an ASD
*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
Sensory-motor symptoms of ASD
- 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
Family History features with ASD
- ASD or similar features in the family
- speech or language difficulties
- psychiatric disorders
- learning disabilities
- seizures or developmental neurologic
problems - Problems impacting child behavior
M-CHAT screen
Can identify Autism by age 2
▪1st autism screen is recommended at 18 months
▪2nd autism screen is recommended at 24-30 months
Treatment & Referral for ASD
▪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
What early intervention is recommended for ASD?
- 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
Tx psych comorbidities of pts with ASD
anxiety, ADHD, depression
Diagnosis of Trisomy 21
*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
______ has higher sensitivity & specificity for trisomy 21 than standard screening
Maternal plasma cell-free DNA testing
Clinical Presentation of Trisomy 21
*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
Diagnosis of Trisomy 21
- 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)
Management of Trisomy 21
- 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
Clinical Presentation of Fragile X Syndrome
- 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)
Management of Fragile X Syndrome
- 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
Fetal Alcohol Spectrum Disorder
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.
Teratogenic effects of Fetal Alcohol
Spectrum Disorder
*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
Clinical Presentation of Fetal Alcohol
Spectrum Disorder
*Prenatal alcohol exposure
*Ht, Wt, or head circumference ≤ 10th %
*Characteristic facial anomalies
* Central nervous system abnormalities
* Developmental delay
* Intellectual disability
Diagnosis of Fetal Alcohol Spectrum Disorder
- 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
