Genetics, Cognitive, Sensory, and Communication (WEDNESDAY) Flashcards
Autism Spectrum Disorder (ASD)
etiology?
Symptoms are reported around what age?
Valid diagnosis at what age?
Complex neurodevelopmental disorder
Exact etiology unknown
-Genetic and Environment interplay
Parents report symptoms 12-24 months
-Language regression, fixed interests, repetitive behaviors
Valid diagnosis at age 2 years
-Sadly average age of diagnosis now 4-5 years old
Genetics of Autism
For identical twins?
for same sex fraternal?
for boy girl twins?
If one identical twin has autism ASD, other twin has 76% chance of also being diagnosed.
The percentage of fraternal twins who each share an ASD diagnosis is:
34 percent for same-sex twins
18 percent for boy-girl pairs
SDOH and diagnosis of autism
How are symptoms in females and when are they diagnosed?
Females
-More likely to ‘camouflage’ their social communication difficulties
-Tend to receive a diagnosis later in life than males.
Access to care
Stigma
Structural Racism
Autism Spectrum Disorder (ASD) characterized by
(three symptoms you look for)
Persistent deficits in social interaction
Difficulties in verbal and non-verbal communication
Presence of restricted and repetitive behaviors or interests
Autism symptom examples
difficulties with what?
Nonverbal communicative behaviors?
Deficits in social emotional interactions
-Difficulties with back and forth conversation
-Difficulty initiating or responding to social interactions
-Difficulties in making friends
Nonverbal communicative behaviors
-Abnormalities in eye contact or body language
-Atypical facial expressions and nonverbal communication
Autism symptoms
Altered perception of what?
Adverse response to?
How is behavior and interests?
Hyper/hypo-reactivity to sensory input
-Altered perception of pain, temperature, smell, touch, and lights
-Adverse response to sounds/textures
Restricted, repetitive behaviors
-Insistence on sameness, inflexible, or ritualized patterns
-Highly restricted, fixated interests abnormal in intensity or focus
ASD Screening and diagnosis
Children should be screened when?
What is the tool called and what is it?
Another diagnostic tool?
What age?
Modified Checklist for Autism in Toddlers (MCHAT)
-MCHAT: 20 yes-or-no questions about the child’s behavior and development completed by parents.
-ALL children should be screened at 18 months.
Diagnostic Tool:
-The Autism Diagnostic Observation Schedule (ADOS) scores direct observation of the child’s social interactions, communication and repetitive behaviors.
Normed for age 2.
ASD Nursing Considerations
Early preparation and visits before procedures or hospitalizations
Allow extra time for assessment and procedures.
Use a strengths-based approach over deficit model -positive-memory.
Provide choice whenever possible.
Consult Child Life
Autism nursing considerations continued
Accommodate sensory needs
Location of room - not near nurse’s station or elevators.
Minimize change and provide structure when possible or provide warning
Dim the lights to reduce stimuli
Limit number of staff involved
Speak more quietly if patient does not have headphones
Avoid perfumes/cologne
Treat WHOLE patient and Family!
Individuals with ASD have a normal age of life expectancy
Children with ASD become adults with ASD
Phenylketonuria (PKU)
What kind of disorder?
Where is phenylalanine found?
Excess phenylalanine can do what?
Whos screened for PKU?
What does it do?
Autosomal recessive disorder
Defect in the gene required to break down the amino acid phenylalanine.
Phenylalanine is found in protein-containing foods.
Excess phenylalanine damages the CNS (brain).
-All newborns are screened for PKU at birth
-Progressive and irreversible intellectual and cognitive disabilities, seizures, behavioral concerns.
what kind of diet for PKU?
STRICT DIET WITH LOW PHENYLALANINE FOR THE REST OF THEIR LIFE!!!!!
Breast feeding -Human breast milk has low Phenylalanine content. Mixed feeding with formula and breastfeeding.
Trisomy 21 (Down Syndrome)
Presence of what?
Risk increases with what?
Most common cause of what?
One of the most common chromosome abnormalities
Presence of extra chromosome 21
The risk increases with maternal age
-Age 35+ incidence approximately 1 in 350
-Age 40+ incidence approximately 1 in 100
Most common genetic cause of Cognitive Impairment
-Severity varies (mild-moderate)
Down Syndrome: Manifestations
7
-Upward slant to eyes
-Inner epicanthal folds (eyelid go inward)
-Palmar creases
-Flat nasal bridge
-Protruding tongue (tongue sticks out)
-Excess skin in neck folds
-Hyperflexible, hypotonia
Trisomy 21 Congenital Anomalies
they have what kind of heart diseases?
three more things?
45% have congenital heart defects:
Atrial Septal Defect (ASD) and Ventricular Septal Defect (VSD).
Altered immune function
**20 times risk for developing ALL-
r/t low B + T lymphocytes)
**Hypothyroidism
**Atlantoaxial instability: 15%-20%
-Instability of 1st and 2nd cervical vertebrae
-Concern w/sports activities - x-ray before sports
Klinefelter Syndrome
What is it?
Occurs in who?
genetic or hereditary?
Symptoms? 4
Management?
47XY= 47XXY
EXTRA X CHROMOSOME
Occurs in males (1 in 500)
The error that produces the extra X chromosome occurs at random, is not hereditary or passed down from parent to child.
Extra X chromosome can interfere with male sexual development.
SMALL TESTES
wider hips
gynecomastia (breast development)
longer arms.
Management- Testosterone, support, behavior therapy
