Psych and Chromosomal Conditions

Question 1

Asperger’s Disorder

Answer 1

one-sided social approach, no significant delay in cognitive or language development

Question 2

Childhood Disintegrative Disorder

Answer 2

Heller Syndrome

abrupt loss of skills (2+) ~ late onset of developmental delay

expressive/receptive language, social skills, adaptive behavior, bowel/bladder, play + motor skills

Question 3

Rett Syndrome

Answer 3

genetic mutation in MeCP2 ~ 1/10K females

normal development until 5 months + not neurodegenerative + limited recovery

lack of purposeful hand skills, acquired spoken language, gait abnormalities, hand squeezing/clapping

Question 4

Autism: what is it

Answer 4

abnormal cerebellum; normal brain volume at birth and then enlarged by 2-4 years old (commonly frontal lobe)

surplus of synapses due to slowdown in normal pruning process

controlled by Genetics, Environment and Pregnancy

Question 5

Autism: what are the different forms?

Answer 5

Trisomy 21: most severe and 95% of cases (47 chromosomes)

Translocation: portion of chromosome 21 breaks off and attaches to another chromosome (3%)

Mosaic: some cells have 46 and others have 47 chromosomes (1% cases) ~ least severe

Question 6

Autism: further vision complications?

Answer 6

No emmetropization; Hyperopia is most common

poor accommodation due to hypotonia or early aging of lens
- study showed that bifocals had better compliance than Single vision

Strabismus: ET > XT + alternating is more common

Blepharitis + Brushfield Spots (white spots on cornea)

Keratoconus (bulging of cornea from weak collagen)

Cataracts: congenital or age-related

Question 7

Turner Syndrome

Answer 7

Missing X karyotype (45 chromosomes) is most common form

short stature, webbed neck, early menopause (non-functioning ovaries), Cubitus Valgus (extended arm) and cardiac defects + hypothyroidism

Vision: strab, CI, AI, Ptosis, Epicanthus, Hypertelorism, R/G defect

Question 8

Kleinfelter Syndrome

Systemic and vision effects?

Answer 8

XXY Karyotype (extra X): up to 75% undiagnosed

Primary Testicular Insufficiency: infertile, incomplete puberty, gynecomastia, decreased muscle mass

Learning disability, ADHD, metabolic syndrome (50%)

Vision: smaller foveal avascular zone, thinner retina and cornea, epicanthal folds, hypertelorism, strab, myopia

Question 9

Fragile X Syndrome

Answer 9

X-linked ( M>F) genetic mutation

asymptomatic to severe symptoms

Developmental delay, speech problems, cognitive development, features of autism in 33%

Large head, long and narrow face, large ears, joint hypermobility, flat feet, speech issues + epicanthal folds

Question 10

Keratoconus

signs?

tx?

Answer 10

• progressive until 40s + DS is a risk factor for this
• scissors reflex, Fleischer Rings, Vogt’s Striae and decreased VA

Tx: corneal cross linking, gls, GPs