Genetic & Non-Genetic Conditions

Question 1

Fragile X Syndrome facts

Answer 1

• FMR 1 gene on X chromosome
• Most common INHERETED genetic cognitive impairment
• X linked dominant (mostly male)

Question 2

Fragile X Syndrome presentation

Answer 2

• Hypotonia
• Joint hypermobility
• delayed motor milestones
• poor coordination
• poor motor planning
• seizures
• autistic like characteristics
  Looks like:
• elongated faces
• large ears
• prominent mandible

Question 3

Prader-Willi syndrome facts

Answer 3

• Microdeletion on chromosome 15
• severe hypotonia and feeding problems
• commonly diagnosed with early failure to thrive
• excessive eating
• onset 1-6 years
• obesity in childhood

Question 4

Prader-Willi syndrome presentation

Answer 4

• hypotonia
• delayed milestones
• poor fine and motor coordination
• Sit at 12mo, walk at 24
• short stature
• small hands & feet
• low normal to moderate cognition
• high incidence of scoliosis/kyphosis & OA with aging

Question 5

Angelman Syndrome Facts

Answer 5

• Deletion of chromosome 15
• Neurodevelopmental disorder with overall delays

Question 6

Angelman Syndrome Presentation

Answer 6

• Ataxia
• Jerky or tremulous movements
• Hand flapping
• Puppet like gait “Happy puppets”
• Microcephaly
• Seizures
• Pale Blue Eyes
• Laughing behaviors and wide smiling mouth
• Scoliosis
• Pronated/Valgus feet
• No expressive speech

Question 7

Rett Syndrome Facts

Answer 7

• Mutation of MECP-2 gene
• Progressive neurodevelopmental disorder
• Deceleration rate of head growth
• Gradual loss of acquired skills after 6-18 months
• 4 stages, last stage occurs after 10 yo
• May live to 40-50s

Question 8

Rett Syndrome Presentation

Answer 8

• Minimal language
• Loss of purposeful hand skills
• Stereotypical hand movements (clapping, wringing, clenching)

Question 9

Cri-du-chat syndrome facts

Answer 9

• Rare chromosomal disorder, deletion of chromosome 5p that is paternally derived
• congenital heart disease (common)
• cognitive delay

Question 10

Cri-du-chat syndrome presentation

Answer 10

• Very distinctive high pitched cry
• low birth weigh
• hypotonia in early childhood, sometimes hypertonia later
• low set ears
• possible webbing
• wide set eyes
• hypertelorism
• better receptive than expressive language
• self injury behaviors
• repetitive movements
• hypersensitivity to sound
• clumsiness

Question 11

Neurofibromatosis type 1 facts

Answer 11

• mutated copy of the nf1 gene on chromosome 17
• presents with non-cancerous tumors (neurofibromas) which grow on nerve tissue, which produces skin and bone abnormalities
• skin neurofibromas begin in puberty

Question 12

Neurofibromatosis type 1 presentation

Answer 12

• multiple cafe au lait spots
• verbal & nonverbal disabilities
• deficits in IQ, attention, motor abilities & executive function

Question 13

Williams Syndrome Facts

Answer 13

• Caused by mutation or deletion of the elsatin gene at 7q11.23
• occurs in 1-20,000 live births
• Many medical, social and developmental issues

Question 14

William Syndrome Presentation

Answer 14

• Hypotonia
• Joint laxity
• Contractures when old
• Hyperrelexia
  -Cerebellar dysfunction
  -Mild neurologic dysfunction
• Developmental delay
• Learning challenges
• ADD

Question 15

Phenylkeonuria Facts

Answer 15

• Inherited metabolic disease that prevents the body from properly metabolizing the amino acid phenylalanine
• Autosomal recessive
  -Mutation of PAH gene
• All babies are screened for it

Question 16

Phenylketonuria Presentation

Answer 16

• Tremors
• Microcephaly
• Seizures
• Developmental delay
• Hyperactivity
• Reduced growth
• Eczema
• Distinct odor (Musty)

Question 17

Phenylketonuria Treatment

Answer 17

• Treated through significant lifelong diet changes
• Enzyme therapy
• Pharm

Question 18

Klinefelter Syndrome facts

Answer 18

• Extra x chromosome
• complications: osteoporosis, heart & blood vessel disease

Question 19

Klinefelter Syndrome presentation

Answer 19

• Low sperm count/no sperm
• small testicles & penis
• low sex drive
• taller than average height
• weak bones
• decreased facial & body hair
• less muscular compared to other males
• enlarged breast tissue
• increased belly fat

Question 20

Turner syndrome facts

Answer 20

• one X chromosome is missing or partially missing
• only affects females
• complications: variety of medical & developmental problems
• skeletal problems: scoliosis, osteoporosis, kyphosis
• HTN
• normal IQ, but increased risk of learning disabilities

Question 21

Turner syndrome presentation

Answer 21

• wide or weblike neck
• low set ears
• broad chest with widely spaced nipples
• short stature
• slowed growth
• cardiac defects

Question 22

Fetal Alcohol Syndrome Facts

Answer 22

-Triad of symptoms: Growth deficiency, cardiac defects, CNS disturbance
- CNS:
-Microcephaly
-Slow mentation
-Dysorphology
-Problems in al domains of adaptive functioning
-Balance and coordination issues

Question 23

Fetal Alcohol Syndrome Presentation

Answer 23

• Small head
• Epicanthal folds, small eye openings
• Smooth philtrum
• Thin upper lip
• Low nasal bridge

Question 24

Congenital Cytomegalovirus Facts

Answer 24

• Commonly caused by prenatal infections, a herpes virus (cytomegalovirus)
• 1-150 babies have it
• 1/3 of women 1st infected during pregnancy will pass to fetus
• Prevented by decreasing exposure to body fluids with this virus

Question 25

Congenital Cytomegalovirus Presentation

Answer 25

• Presents like CP, seizure disorder, hearing problems, heart defects