Pediatric conditions 1-5

Question 1

This condition causes an Autosamal dominant genetic condition of the connect tissues.

Answer 1

Marfan Syndrome

Question 2

This condition is an Autosomal dominant or spontaneous gene mutation disorder. From subtle to severe.

Answer 2

Noonan Syndrome

Question 3

This condition is caused by mutation of chromosomes 15. Children who have this condition present a “Happy” presentation even when it does not relate to the context.

Answer 3

Angelman syndrome

Question 4

A genetic condition due to a missing part of an X chromosome or a missing X chromosome in females. Most of the time it is not inherited.

Answer 4

Turner Syndrome

Question 5

A genetic cause of childhood obesity. It is a complex genetic disorder (defect on chromosome 15) that affects the metabolic, neurologic, and endocrine system. Begins with poor growth/weight, gain weight or have poor feeding habits. Children struggle with poor Interoception of satiety.

Answer 5

Prader-Willi

Question 6

This condition affects both males and females Equally with a prevalence of 1:15,000.
a. Angelman
b. Prader-Willi
c. Turner syndrome
d. Noonan syndrome

Answer 6

b. Prader-Willi

Question 7

This condition ONLY affects Females with a prevalence of approximately 1:2,500
a. Marfan Syndrome
b. Noonan Syndrome
c. Angelman Syndrome
d. Turner Syndrome

Answer 7

d. Turner syndrome

Question 8

Within this condition both males and females are affected but males are affected at a GREATER risk. With a prevalence of approximately 1 in 1,000-2,5000
a. Marfan syndrome
b. Noonan Syndrome
c. Prader-Willi
d. Angelman Syndrome

Answer 8

b. Noonan Syndrome

Question 9

This condition occurs Equally in males and females; with a prevaence of approximately
1 in 5,000 infants.
a. Marfan syndrome
b. Turner Syndrome
c. Angelman Syndrome
d. Noonan Syndrome

Answer 9

a. Marfan Syndrome

Question 10

In this condition Males and Females are affected Equally with a prevalence of
1 in every 12,000-20,000 births
a. Marfan Syndrome
b. Turner Syndrome
c. Angelman Syndrome
d. Prader-Willi

Answer 10

c. Angelman Syndrome

Question 11

These are physical features of what condition?

Long, narrow face; small, receding chin; deeply set/down slanting eyes; long/thin fingers and extremities; tall/thin; scoliosis is common; dental issues; joint laxity; flat feet; chest wall deformities; visual issues- displacement of the lens- ectopia lentis in 60%; risk for retinal detachment, glaucoma, early cataract formation.
a. Noonan Syndrome
b. Prader-Willi
c. Turner Syndrome
d. Marfan Syndrome

Answer 11

a. Marfan Syndrome

Question 12

These are physical features of what condition?

Flattened posterior skull, deep-set eyes, wide mouth with large tongue (sticking out often) and spaced teeth, strabismus, pale
skin, light hair and eye color, smiling often, scoliosis
a. Marfan Syndrome
b. Turner Syndrome
c. Angelman Syndrome
d. Noonan Syndrome

Answer 12

c. Angelman Syndrome

Question 13

These are physical features of what condition?

Facial features (broad forehead, ptosis, eyes far apart, low-set ears rotated towards back of head, small jaw, short neck with excess skin folds); short stature; congenital heart defects (pulmonary stenosis, hypertrophic cardiomyopathy, septal defects), nipples widely spaced and low set, undescended testes, delayed puberty, scoliosis, pale blue/green eyes, often with lack of affect/expression, skin texture (rough/dry) and curly, coarse and/or sparse hair possible
a. Prader-Willie
b. Noonan Syndrome
c. Turner Syndrome
d. Noonan Syndrome

Answer 13

d. Noonan Syndrome

Question 14

These are physical features of what condition?

Short stature, often needing growth hormones. Most have non-functioning ovaries. Some with lymphatic issues may have physical features such as small, narrow fingernails and toenails that grow “up”, “puffy” hands/feet webbed neck and low hairline, can have broad chest with widely spaced nipples, crowded teeth with small, receding jaw and narrow, high arched palate. Scoliosis, strabismus, and renal issues leading to UTIs can occur. Can have frequent ear infections leading to hearing deficits. Can also have cardiac issues.
a. Marfan Syndrome
b. Turner Syndrome
c. Prader-Willi
d. Angelman Syndrome

Answer 14

b. Turner syndrome

Question 15

These are physical features of what condition?

Almond-shaped eyes, thin upper lip with down turned corners of mouth, narrow forehead and bridge of nose, hypogonadism (lack of sexual development), small hands and feet, some with fair hair/skin/eye color. Scoliosis is common.
a. Prader-Willi
b. Turner Syndrome
c. Angelman Syndrome
d. Marfan Syndrome

Answer 15

a. Prader-Willi

Question 16

Identify & Match gross motor concerns to correct term:

1. Delayed gross motor skills due to low tone (decreased muscle strength, motor planning, ataxia)
2. Delays in gross motor development caused by joint hypermobility
3. Ataxia, balance issues; often with stiff joints (especially LE), poor coordination, delayed motor skills, when ambulating, often with “high guard” position and wide gait
4. Usually delayed with walking and can have decreased gross motor coordination
5. often delays due to joint hypermobility and low tone; decreased coordination, postural control and balance

a. Noonan Syndrome
b.Prader-Willi
c. Turner Syndrome
d. Marfan Syndrome
e. Angelman Syndrome

Answer 16

1. Prader-Willi
2. Marfan Syndrome
3. Angelman Syndrome
4. Turner syndrome
5. Noonan Syndrome

Question 17

Identify & Match Behavioral concerns to correct term:

1. Feeding issues (pica is common- eating non-food items), hyperactivity, poor emotional regulation with change in routines
2. Issues with self-esteem due to decreased participation in activities, body image, etc.
3. Food cravings often lead to stealing and hiding food, sleep disorders, temper tantrums, obsessive-compulsive disorder and skin picking
4. Sometimes behavioral issues linked to self-esteem, attention issues, etc.
5. Delayed sexual development and other symptoms can cause self-esteem/self-image issues; some females have** severe shyness and social anxiety**. Can have difficulty reading social cues and can be overall immature for their age.

a. Noonan Syndrome
b. Turner Syndrome
c. Angelman Syndrome
d. Prader-Willi
e. Marfan syndrome

Answer 17

1. Angelman Syndrome
2. Marfan Syndrome
3. Prader-Willi
4. Noonan Syndrome
5. Turner Syndrome

Question 18

Identify & Match Cognitive concerns to correct term:

1. Some have difficulty with executive functioning, concentration, attention, impulsivity, STM, receptive language, etc.
2. Most have normal intelligence or slightly below normal intelligence. Some have difficulty with math, particularly abstract concepts and spatial processing skills; attention, **working memory and executive functioning ** issues such as time management, organization and structuring tasks.
3. Often with severe or profound intellectual disabilities with poor academic performance in most cases; decreased comprehension and abstract reasoning, dyslexia, decreased memory, executive functioning, visuospatial skills.
4. Many are nonverbal or with significant delay/poor attention sometimes causing inflated perception of cognitive delays
5. Typical intelligence

a. Turner Syndrome
b. Noonan Syndrome
c. Prader-Willi
d. Angelman Syndrome
e. Marfan Syndrome

Answer 18

1. Noonan Syndrome
2. Turner Syndrome
3. Prader-Willi
4. Angelman Syndrome
5. Marfan Syndrome

Question 19

Identify & Match Fine motor concerns to correct term:

1. Some have difficulty with dexterity, manipulating fasteners, and handwriting/handwriting speed due to visual spatial issues
2. Decreased fine motor coordination, forearms often pronated
3. Decreased hand-eye coordination, poor motor control
4. Loose ligaments may impact fine motor skills due to difficulty with strength, dexterity, endurance
5. Decrease fine motor skills (manipulation, fine motor control and motor planning)

a. Noonan Syndrome
b. Prader-Willi
c. Turner Syndrome
d. Angleman Syndrome
e. Marfan Syndrome

Answer 19

1. Turner Syndrome
2. Angelman Syndrome
3. Noonan Syndrome
4. Marfan Syndrome
5. Prader-Willi

Question 20

Identify & Match Sensory concerns to correct term:

1. No specific sensory processing concerns are prevalent, but some can vision and hearing deficits.
2. Abnormal sleep/wake cycles, increased appetite, decreased interoception (temperature, hunger, etc.), fascination with water, certain
   textures/items,often have feeding difficulties early on due to poor oral motor and GERD issues (then obsessed with certain food and increased appetite– thin as child, then often can end up obese)
3. Most have strabismus, refractive error, amblyopia and/or nystagmus
4. Vision can be an issue (acuity, perception, hand-eye coordination); chronic pain; fatigue
5. Poor interoceptive awareness (satiety, temperature control/sensitivity), overall difficulties with sensory processing (seeking and avoiding certain
   sensory stimuli). Often with high pain threshold.
   a. Prader-Willi
   b. Noonan Syndrome
   c. Turner Syndrome
   d. Angelman Syndrome
   e. Marfan Syndrome

Answer 20

1. Turner Syndrome
2. Angelman Syndrome
3. Noonan Syndrome
4. Marfan Syndrome
5. Prader-Willi

Question 21

This condition is typically diagnosed:
(at birth, later in childhood, etc.) Present at birth, but due to variable expression, some
are not diagnosed until adolescence or adulthood
a. Noonan Syndrome
b. Prader-Willi
c. Turner Syndrome
d. Marfan Syndrome

Answer 21

d. Marfan Syndrome

Question 22

This condition is typically diagnosed:
(at birth, later in childhood, etc.) Birth through adulthood due to range of severity
a.Turner syndrome
b. Angelman Syndrome
c. Noonan Syndrome
d. Marfan Syndrome

Answer 22

c. Noonan Syndrome

Question 23

This condition is typically diagnosed:
(at birth, later in childhood, etc.) Mostly before or at birth, but those with less symptoms are sometimes not diagnosed until
adolescence or adulthood. Average age of diagnosis in U.S. is 9 years old.
a. Turner Syndrome
b. Angelman Syndrome
c. Noonan Syndrome
d. Marfan Syndrome

Answer 23

a. Turner Syndrome

Question 24

This condition is typically diagnosed:
(at birth, later in childhood, etc.) Sometimes at birth due to physical symptoms including hypotonia, poor suck and poor feeding, low birth-weight with poor weight gain, and a weak cry
a. Marfan Syndrome
b. Prader-Willi
c. Noonan Syndrome
d. Turner Syndrome

Answer 24

b. Prader-Willi

Question 25

This condition is typically diagnosed:
(at birth, later in childhood, etc.) Typically diagnosed between 6 months-12 months of age when delays appear. Some are diagnosed before or at birth due to genetic testing and/or physical features and others have had a delayed diagnosis until up to 4 years old +
a. Noonan Syndrome
b. Prader-Willi
c. Angelman Syndrome
d. Turner Syndrome

Answer 25

c. Angelman Syndrome

Question 26

Types/Stages/Categories:

No specific types, but variable presentation; can be life threatening; list of symptoms is
extensive, although most only have some of them; enlargement of the heart is a main concern

Answer 26

Marfan Syndrome

Question 27

Types/Stages/Categories:

No specific types or stages, but symptoms vary greatly. Less common characteristics (but ones typically associated with OT needs include mild learning disability, infant feeding issues, behavioral issues, hypotonia, lymphedema, speech difficulties are common

Answer 27

Noonan Syndrome

Question 28

Types/Stages/Categories:

Symptoms vary but most have similar issues including developmental delay, decreased coordination, apparent happy
demeanor (even when in pain), short attention span, excitability (laughing, hand flapping), short attention span.. Seizures are common. Often have significant communication issues (due to oral motor structures and/or coordination). Many are drawn to water.

Answer 28

Angelman Syndrome

Question 29

Types/Stages/Categories:

Severity of symptoms varies, with many females having no significant outward symptoms or very subtle symptoms

Answer 29

Turner Syndrome

Question 30

Types/Stages/Categories:

Stage 1: Infant (low tone, faltering growth/failure to thrive, week cry and poor suck).
Stage 2: Hyperphagia leading to obesity
(uncontrollable eating with unusual food-seeking behaviors, inability to detect fullness and slow metabolism (between 12 mo.-6 years)

Answer 30

Prader-Willi

Question 31

OT concerns:

Sensory processing, managing routines, assistive technology, school OT for cognitive/behavioral needs and social participation, ADL skills, nutrition support

Answer 31

Prader-Willi

Question 32

OT concerns:

High rate of ADHD associated with Turner syndrome. May need social skill and/or psychosocial interventions. Often benefit
from school OT for task organization, social skills, memory and auditory processing strategies, and fine motor

Answer 32

Turner Syndrome

Question 33

OT concerns:

Most communicate by pointing, gesturing until they learn to use an Augmentative and Alternative Communication (AAC) device, need OT for feeding, fine/gross motor coordination, sleeping concerns, can be obese later in life

Answer 33

Angleman Syndrome

Question 34

OT concerns:

Pain/fatigue can impact motor skills, self-esteem, can have related conditions such as
dyspraxia, ADHD, Autism Spectrum Disorder (ASD)

Answer 34

Noonan Syndrome

Question 35

OT concerns:

Bracing/orthotics (back/legs, etc.); height can make people think they are older;
pulmonary and cardiac issues are common and can impact participation; joint integrity; strengthening, energy conservation; pain management; fine and gross motor needs; school modifications

Answer 35

Prader-Willi