Genetic and Developmental Disorders (ch15)

A physical therapist assistant is working with a patient using chest physical therapy techniques such as tapotment and chest wall stretching. Which of the following pathologies would fit with this treatment strategy?

• Cystic Fibrosis

• Pneumonia

• Chronic Bronchitis

• Cerebral Palsy

Answer explanation

Cystic Fibrosis is a genetic condition that leads to the production of thick, sticky mucus, particularly affecting the lungs and digestive system. Pulmonary hygiene techniques are essential in managing this condition as they help clear secretions, reduce infection risk, and improve breathing. Unlike asthma, which involves airway inflammation, or pneumonia, which is a lung infection, Cystic Fibrosis primarily results in mucus buildup that requires consistent airway clearance practices.

Duchenne muscular dystrophy, a disorder linked to a mutation on the X chromosome, typically affects which muscle type first and leads to what primary symptom?

• Smooth muscles; respiratory difficulties

• Skeletal muscles; progressive weakness

• Cardiac muscles; arrhythmia

• Nervous tissue; sensory loss

Answer explanation

Duchenne muscular dystrophy is a genetic disorder due to a mutation on the X chromosome, causing a deficiency in dystrophin, a protein essential for muscle stability. This leads to progressive skeletal muscle weakness, especially in the lower limbs. Unlike cerebral palsy, which is typically a motor condition present at birth, muscular dystrophy progressively worsens over time. The proximal musculature/posture is typically affected first.

The term pseudohypertrophy, where fat and connective tissue replace muscle tissue, is a hallmark symptom of which condition?

• Cystic Fibrosis

• Down Syndrome

• Cerebral Palsy

• Muscular Dystrophy

Answer explanation

Pseudohypertrophy is commonly seen in muscular dystrophy, particularly Duchenne muscular dystrophy, where the muscles appear enlarged but are weakened due to fat and connective tissue replacing muscle fibers. This differs from Down syndrome, which primarily involves low muscle tone, or cerebral palsy, which involves spasticity.

A physical therapist assistant is treating a pediatric patient with Down syndrome. This condition is caused by which of the following genetic abnormalities?

• Trisomy 18

• Deletion on chromosome 5

• Trisomy 21

• 1. Trisomy 13

Answer explanation

Down syndrome is caused by an extra copy of chromosome 21, also known as trisomy 21. This genetic abnormality leads to a range of physical and intellectual developmental challenges, commonly including low muscle tone, joint laxity, and developmental delays.

Which of the following is most commonly associated with spina bifida?

• Hydrocephalus

• Aortic aneurysm

• Cerebral palsy

• Muscular dystrophy

Answer explanation

Spina bifida is a neural tube defect that occurs when the spine and spinal cord do not develop properly during fetal development. The spine does not fully close which leaves the spinal cord unprotected and at risk for damage. One of the most common complications of spina bifida is hydrocephalus, a condition in which there is an abnormal accumulation of cerebrospinal fluid in the brain. This often results from a blockage in the flow of cerebrospinal fluid or problems with its absorption, and it may require surgical intervention to place a shunt.

• Aortic aneurysm is not typically associated with spina bifida but is more common in conditions affecting connective tissue like Marfan syndrome.

• Cerebral palsy is a motor disorder caused by brain damage, and while both cerebral palsy and spina bifida may result from neurological impairments, they are separate conditions.

• Muscular dystrophy involves progressive muscle weakness and is not a direct consequence of spina bifida.

A weakened aortic arch due to connective tissue abnormalities is a hallmark feature of which condition?

• • Ehlers-Danlos syndrome

• Marfan Syndrome

• Osteogenesis imperfecta

• Turner syndrome

Answer explanation

Marfan syndrome is a genetic disorder that affects connective tissue, leading to abnormalities in structures such as the aorta, eyes, and skeleton. The weakening of the aortic arch, in particular, is a major concern in individuals with Marfan syndrome, as it can lead to aneurysms and aortic dissection.

• Ehlers-Danlos syndrome also involves connective tissue defects but typically affects collagen, leading to hypermobility and skin fragility rather than aortic issues.

• Osteogenesis imperfecta affects bone formation, leading to brittle bones, but it is not associated with the aortic arch.

• Turner syndrome is a chromosomal disorder affecting females, with symptoms including short stature and cardiovascular issues, but it does not typically involve connective tissue weakness or aortic arch problems.

Which term most accurately describes a patient with Cerebral Palsy where one side of the body is affected?

• Monoplegia

• Hemiplegia

• Diplegia

• Quadriplegia

Answer explanation

In cerebral palsy (CP), diplegia refers to motor impairment primarily affecting both lower extremities, often with lesser involvement of the upper body. Here is a breakdown of other types of CP.

• Hemiplegia: Involves one side of the body, affecting both the arm and leg on that side.

• Quadriplegia: Involves all four limbs (both arms and legs) and typically has more extensive impairments, often impacting the trunk and face as well.

• Monoplegia: Affects only one limb, usually an arm.

Each type indicates the areas of the body primarily affected, but the severity and functional impact can vary widely among individuals with CP.

What range is considered not full-term gestation in humans?

• 34-36 weeks

• 37-39 weeks

• 39-40 weeks

• 40-42 weeks

Answer explanation

A full-term pregnancy is typically considered to be between 37 and 42 weeks of gestation.

• 34-36 weeks: This is considered late preterm, meaning the baby is born before reaching full term but is generally more developed than earlier preterm births.

• 37-39 weeks: This is considered early full-term, which is when the pregnancy is at full-term but before 40 weeks.

• 40-42 weeks: This range represents full-term pregnancy.

• 28-33 weeks: This is considered preterm, with the baby born earlier than full-term, leading to higher risks of complications.

Gestation before 37 weeks is considered preterm, and babies born in this period may face more developmental challenges compared to those born at full-term.

A physical therapist assistant is working with a pediatric patient who has Down syndrome. Which of the following characteristics is most likely associated with this condition?

• Increased muscle tone and coordination issues.
• High intelligence and advanced cognitive skills.
• A tendency to be overly tall and slender.
• Low muscle tone and joint hypermobility

Answer explanation

Children with Down syndrome often present with hypotonia, or low muscle tone, which makes their muscles feel soft and leads to decreased resistance to movement. This low tone, combined with joint hypermobility, can impact posture, stability, and motor skills. It differs from conditions that cause increased tone or rigidity, and it often requires targeted exercises to improve strength, coordination, and balance.

A physical therapist assistant is treating a child with cerebral palsy. Which of the following characteristics is most commonly associated with this condition?

• • Low muscle tone and poor coordination

• High muscle tone and spasticity

• • Joint hypermobility and reduced strength

• Progressive muscle weakness over time

Answer explanation

Cerebral palsy often involves high muscle tone (hypertonia) and spasticity, which are due to disruptions in the brain's ability to regulate muscle control. This can lead to stiffness, involuntary muscle contractions, and difficulty with movement. Unlike progressive muscle weakness, which worsens over time, cerebral palsy symptoms typically remain stable or improve with therapy, and it contrasts with conditions that involve low tone or excessive joint laxity.