Autism 1 and 2 Flashcards
Prevalence of autism
Boys: Girls
Familial risk if sibling has it
1/56
4:1
18% risk of sibling having it if other does.
Autism signs
Deficits in social-emotional reciprocity, communication (nonverbal, poor eye contact), developmental and maintaining/understanding relationships.
Repetitive patterns of behavior, interests, or activities
Absence of social smile Echolalia (repeating words) Likes routine Toe walking Harmful behaviors
Level 1, 2, and 3 of autism
Level 1 is well functioning, level 3 is severe deficits. level 3 is very limited social interactions and very difficult to deal with change. Repetitive behaviors all over.
Aspergers
One sided social approach, no significant delays in early language development or cognitive development.
Childhood disintegrative disorder
Abrupt loss of skills such as language, social skills, adaptive behavior, bladder, play, motor.
Could be due to seizures. 50% have abnormal EEG.
Rett Syndrome
Genetic mutation of the meCP2 gene.
Females»_space;»»»> males
Normal development until 5 months, then regression.
Lack of hand skills, spoken languages.
Abnormal gait and hand movements.
3 main categories that can be risk factors for autism
Genetics
Environmental- viral infection?
Pregnancy- premature, mother/father age, complications
Neurochemistry differences in autism
Abnormal cerebellum
Normal brain volume at birth, frontal lobe is larger at ages 2-4.
Surplus of synapses
Screening tests for autism (MCHAT)
M-CHAT modified checklist for autism in toddlers.
parent answers- yes or no questions.
Ages 16-30 months.
Good specificity (98%) Poor sensitivity (30%)
Gold standard diagnostic test for autism
Autism Diagnostic Observation Schedule (ADOS)
Ages 12 months to adult.
max 30 minute modulates to test communication, social interactions and play.
3 Diagnostic tests for autism
Autism diagnostic interview. 18mos- adult.
ADOS Autism diagnostic observation schedule 12 months- adult.
Gilliam Autism Rating Scale. Ages 3-22.
Vision in autism
Ret findings: 18% hyperopa and astigmatism. 9% myopia.
Strab 21% XT
Takes 1-16 weeks to adapt to specs.
Lateral glancing, absence of joint attention, poor eye contact. Stimming.
Reduced NPC
Large lag of accommodation +1.00 or greater.
Abnormal binocular rivalry
Abnormal face scanning
Autism most likely to have what refractive error and which strab
Hyperopia + astigmatism
XT
Hyper and hypo sensitive vision behaviors
Hyper- focus on tiny pieces of objects. Dusts, ants. Dislikes bright lights, covers eyes, looks down.
Hypo- Looks at objects, finger/object flicking, touching objects, likes shiny objects.
Autism tx
Early intervention
Speech/communication/occupational therapy
Meds to minimize symptoms and prevent harmful behaviors.
Goal is to increase visual and body awareness.
Ex:
Risperidone for aggression.
SSRIs for depression and anxiety.
Melatonin
Basic exam if child is unwilling
F&F or CSM
Gross ret
Hirschberg
Red reflex (no view of nerve)
Yoked prism in autism
Observe the degree they seem to look and connect to things and people. See if symptoms improve. Throw a ball and see if they catch it easier.
Body awareness training
Angles in the snow. Start on floor then standing.
Chalkboard circles. Start in air then draw.
3x3 hop. Start both feet.
Walking rail. See if they toe walk.
ID body parts on drawing.
Simon says
ADHD types (3) and ratio of boys:girls.
Combined (80%)
Inattentive (10-15%)
Hyperactive-impulsive (5%)
2:1
3-10% prevalence of all children.
Signs of inattentive ADHD based on the DSM 5
Fails to give close attention to details Difficulty sustaining attention Does not listen when spoken to Does not follow through with assignments Difficulty organizing
Signs of hyperactive ADHD based on the DSM 5
Fidgets
Leaves seat often
Runs around or climbs during inappropriate times.
Unable to engage in leisure quiet activities
ADHD diagnosis is by who
Psychiatrist, psychologist, pediatrician, neurologist, social worker.
ADHD diagnosis is made by what tests
DSM 5
Observation
Checklist or rating scales (connors, vanderbilt)
Parent or teacher reports.
3 categories of risk factors for ADHD
Genetics
Pregnancy difficulties- LBW, premature, alcohol.
Postnatal- lead exposure, injury to prefrontal cortex
Neurochemistry of ADHD
Frontal subcortical systems. Catecholamine disruption. Brains 3-4% smaller.
ADHD and CI
Frequent difficulty concentrating
Loss of place
Re-read
Trouble remembering what you read.
ADHD tx option and side effects
psycho stimulant:
Dopamine
Motor tics, vision changes/problems with accommodation, blurry vision, HA.
Methylphenidate, dexmethylphenidate, dextroamphetamine.
Non stimulants:
Atomoxetine HCL- NE reuptake inhib. Increases dopamine levels.
Guanfacine.
Clonidine. Alpha 2 agonist. Decreases sympathetic outflow.
Two types of translocations
Partial and full.
Trisomy 13
Trisomy 18
13: Patau’s. CNS and cardio malformations. 95% die before 3.
18: Edwards. Microcephaly, cardiac, and renal abnormalities. 90-95% die before 1.
Down syndrome 3 types and which is most common
Trisomy 21: 95% of cases
Translocation: Portion of 21 breaks off and reattaches to another chromosome. 3-4%
Mosacism: Some cells have 46 chr, some have 47. (1% of cases)
Down syndrome characteristics
Large protruding tongue Poorly defined ears Small nose with small bridge Stubby hands Brachycephaly (flattened back of skull)
Systemic conditions associated with down syndrome
Hearing problems 75% Sleep apnea 75% Cardiac malformations 45% Decreased muscle tone 20% Leukemia infertility
Down syndrome and VA
Amblyopia due to strab
Check VA using matching HOTV
Emmetropization does not occur.
Astigmatism and hyperopia common. (62% have greater than +2.00 hyperopia)
Poor accommodation and convergence system. Doesn’t work together well- muscle weakness.
Premature aging of lens.
JAAPOS study down syndrome
Showed 89% compliance when given a bifocal lens.
Accommodation in down syndrome
Measure with dynamic ret.
Flat top
placement-
power-
Strabismus and down syndrome
Upslanting palpebral fissures.
Hypertelorism.
Epicanthal folds may appear as pseudostrab.
35% strab eso»_space; exo. Alternating common.
Ocular signs of down syndrome
Blepharitis due to lid anatomy.
Brushfield spots in iris.
Keratoconus. May notice scissors reflex on ret. Not smooth. Cyl axis changes. Fleisher’s ring on cornea or striations.
Cataracts and down syndrome
up to 17% have. Can be congenital or age related.
Surgery may be high risk.
Turner syndrome.
Karyotype
Systemic symptoms
45, X karyotype
Short, non functioning ovaries, webbed neck, cubits valgus (arm bend)
Turner syndrome ocular findings
33% strab 40% CI 40% AI ??? 21% ptosis 35% epicanthus 10% red green defect.
May see increased IOP or pseudotumor cerebrii.
Kleinfelter syndrome
Karyotype
Systemic symptoms
47 XXY
75% never diagnosed.
Primary testicular insufficiency (infertility)
Metabolic syndrome- overweight. 50%
Kleinfelter syndrome ocular findings
Smaller foveal avascular zone.
Thinner retina and cornea.
Epicanthal folds, hypertelorism, strab, myopia.
Fragile X syndrome
What kind of mutation
More common in which gender
Neuro symptoms
Genetic mutation on FMRI gene. Portion of X chr appears fragile and about to break.
More common in males. X linked.
Could be asymptomatic or severe.
Developmental delays, speech problems, cognitive impairment, smilier features in autism. Seizures more common in males.
Fragile X physical and ocular characteristics
After puberty manifestations: Large head, long narrow face, joint hyper mobility, speech problems.
Epicanthal folds.
