Clin Ped: Exam 2 Concise

What condition is known as a spinal deformity that presents as a curvature of the spine?

scoliosis

T/F: Scoliosis occurs only in the coronal plane.

False

It occurs in coronal, sagittal, and axial planes.

What are the two classifications of scoliosis?

1) idiopathic

2) neuromuscular

What is the cause of idiopathic scoliosis?

*largely unknown

*possibilities:

-transmitted as an autosomal dominant trait

-muscle disorder

-disorganized skeletal growth

-influence of melatonin

What gestational weeks are VERY important in the development of all major body systems?

weeks 3 - 7

What week of gestation does spine development begin?

week 3

What age does postnatal growth occur and 90% of spinal canal diamter have been achieved?

5 years

What are the types of neuromuscular scoliosis?

neuropathic and myopathic

What are the divisions of neuropathic scoliosis?

Upper Motor Neuron lesions and Lower Motor Neuron lesions

What diseases are grouped into upper motor neuron lesions?

cerebral palsy, syringomyelia, and spinal cord trauma

What diseases are grouped into lower motor neuron lesions?

poliomyelitis and spinal muscular atrophy

What are myopathic conditions?

arthrogryposis, muscular dystrophy, and other forms of myopathy

What is the cause of neuromuscular scoliosis?

*not clear

*often attributed to muscle imbalance or weakness gainst gravity

Who is scoliosis usually most severe in?

Children with greater neuromuscular involvement, especially those who are non-ambulatory.

Clinical features of idiopathic scoliosis

-Asymmetry noted at the shoulders, hips, or ribs

-Head is not centered directly above the pelvis

-The entire body leans to one side

How is idiopathic scoliosis categorized?

by age of diagnosis

children diagnosed with scoliosis younger than 3 years

infantile idiopathic scoliosis

children diagnosed aged 3 - 10 years

juvenile idiopathic scoliosis

children diagnosed older than 10 years

adolescent idiopathic scoliosis

T/F: Back pain is more common in people with scoliosis than once believed.

True

What do patients with idiopathic scoliosis initially present with?

perceived deformity

What parts of the body may show asymmetry in idiopathic scoliosis?

Shoulders, waist, or rib cage

What test helps reveal asymmetry in scoliosis screening?

Adams forward-bending test

What imaging tool is used to assess the spine for scoliosis?

X-ray

*looks at the structure of the spine and measure the curvature.

What is the "gold standard" for measuring scoliosis?

Cobb angle

How is the the Cobb angle measured?

measured by determining the most-tilted spinal bones (vertebrae) in each curve

What are the three treatment options for idiopathic scoliosis, also known as the "three Os"?

Observation, Orthosis, and Operative intervention

What does the risk of curve progression vary based on?

idiopathic scoliosis group in which a patient belongs

What is the goal of nonoperative treatment for neuromuscular scoliosis?

To maintain the spine in a balanced position over a level pelvis

To control the curve during spinal growth, rather than to correct the spinal deformity.

What is used in nonoperative treatment of neuromuscular scoliosis to control the curve during spinal growth?

A custom molded thoracolumbosacral orthosis (TLSO) and molded seating supports.

When is surgical stabilization often needed for neuromuscular scoliosis?

After the onset of the pubertal growth spurt, when control of the curve is often lost.

Bracing performed for the management and treatment of scoliosis has ______ compliance with adherence to wearing schedule

low

What type of scoliosis has a reputation for spontaneous resolution?

infantile idiopathic scoliosis

What are some nonoperative treatments used for progressive infantile idiopathic scoliosis?

Conventional thoracolumbosacral orthosis (TLSO)-type braces, Milwaukee-type braces, and intermittent Risser casting

Why do some question the value of bracing for infantile idiopathic scoliosis?

Because many curves resolve on their own, and bracing may not make a difference

Is juvenile idiopathic scoliosis more common in males or females?

females

What is the treatment for curves less than 25° in juvenile idiopathic scoliosis?

Observation with regular follow-up radiographs

At what degree range do curves usually result in bracing intervention for juvenile idiopathic scoliosis?

Curves ranging from 25º to 40° or those rapidly progressing to 25°

When is surgical intervention typically required for juvenile idiopathic scoliosis?

For inflexible curves exceeding 40° or any curve exceeding 50°

What is the most common type of scoliosis?

Adolescent idiopathic scoliosis

When is bracing used in the treatment of adolescent idiopathic scoliosis?

For curves less than 30° in adolescents who are still growing

When is surgery considered for adolescent idiopathic scoliosis?

For curves over 40° or rapidly progressing curves

T/F: Surgical principles in the management of neuromuscular scoliosis differ from those in the management of idiopathic scoliosis.

True

How does the surgical management of neuromuscular scoliosis differ from idiopathic scoliosis?

Fusion is needed at a younger age, and the fused portion of the spine is longer

What hip movement restriction may occur after spinal fusion in neuromuscular scoliosis?

Hip movement may be restricted to 90 degrees of flexion or less

What home adaptations might be necessary after surgery for neuromuscular scoliosis?

A higher bed, raised toilet seat, and chairs with higher seats

What is the goal of therapy after spinal fusion for neuromuscular scoliosis?

To increase overall strength and minimize disruption while maximizing participation in daily activities

What condition refers to a variety of non-progressive conditions that involve congenital limitation of joint movement?

Arthrogryposis multiplex congenital (AMC)

What is the primary cause of arthrogryposis?

Lack of fetal movement for more than 3 weeks, leading to the development of excess connective tissue around joints

What maternal conditions could contribute to the development of arthrogryposis?

Maternal disorders such as multiple sclerosis or impaired uterine vascularity

How does a lack of fetal movement contribute to arthrogryposis?

It causes excess connective tissue to form around joints, leading to joint fixation and limited movement.

T/F: Deformities in children with AMC are usually asymmetric, with severity decreasing distally.

False

(Deformities are usually symmetric, and severity increases distally.)

T/F: Joint dislocation, especially of the hips, is a common feature in children with AMC.

True

T/F: Children with AMC often experience sensory loss, although muscle atrophy and absence of muscle groups can be present.

False

(Sensation is usually intact, but muscle atrophy and absence of muscle groups may occur.)

What are the common clinical features of arthrogryposis multiplex congenital (AMC)?

-Deformities are usually symmetric

-Severity increases distally (hands and feet most affected)

-Joint rigidity may be present

-Joint dislocation, especially of the hips and occasionally knees

-Atrophy and absence of muscles or muscle groups may be observed

-Sensation is typically intact, but deep tendon reflexes may be diminished or absent

What are the common joint deformities seen in children with arthrogryposis multiplex congenital (AMC)?

-Extension of the elbows

-Flexion and ulnar deviation of the wrist

-External rotation of the hips

-Knee flexion contracture

-Feet in equino-varus position when knees are extended

Which of the following maternal conditions increases the risk of a child developing arthrogryposis multiplex congenital (AMC)?

Myotonic dystrophy, myasthenia gravis, and multiple sclerosis.

Exposure to which of the following teratogens during pregnancy may lead to decreased fetal movement, increasing the risk for AMC?

Drugs, alcohol, curare, methocarbamol, and phenytoin.

How is arthrogryposis multiplex congenital (AMC) typically diagnosed at birth?

It is diagnosed based on clinical signs and may be detected in utero using ultrasonography.

What lab test is commonly obtained in children with AMC to assess for generalized weakness or progressive worsening of the condition?

Creatine phosphokinase (CPK) levels.

What is the primary focus of medical treatment and intervention for children with arthrogryposis multiplex congenital (AMC)?

Managing joint stability, preventing worsening of contractures, and supporting function.

Why must precautions be taken when performing range of motion exercises with children who have certain conditions, such as diastrophic dysplasia along with AMC?

Aggressive range of motion exercises can lead to joint ankylosis (fusion of the joint).

How does the presence of central nervous system (CNS) involvement affect the prognosis of individuals with arthrogryposis multiplex congenital (AMC)?

If there is CNS involvement, the prognosis is usually worse, with about 50% of children with limb involvement and CNS dysfunction dying in the first year of life.

What condition is a genetic disorder that affects the collagen matrix of bones, causing diffuse abnormal fragility of bone.?

Osteogenesis Imperfecta (OI)

This condition is sometimes referred to as 'brittle bone disease"

Osteogenesis Imperfecta (OI)

What is the cause of Osteogenesis Imperfecta (OI)?

OI is caused by mutations in genes encoding type 1 collagen, which affects the bone matrix (osteoid).

Mildest and most common form of OI

Type I

frequency of fracture is highest in infancy and childhood then decreases aftery puberty

Type I OI

-Few to several dozen fractures

-little or no limb deformity

-muscles weaknes and no foot arches

-blue sclera

Type I OI

Most severe form of OI and often lethal shortly after brith due to soft skull and unstable vertebrae

Type II OI

-Experiences fracture in utero, so are born with fractures

-limb and rib deformities present

-scoliosis

-dentinogenesis

-blue sclera

Type III OI

-hundreds of fractures over a lifetime

-respiratory complications are more common

Type III OI

moderate and more variable form with having close presentations to type I and type III

Type IV OI

Why is ultrasonography useful in evaluating OI types II and III?

It can detect limb-length abnormalities in utero at 15-18 weeks' gestation.

At what gestational age can OI be evident in its most severe form?

OI may be evident as early as 16 weeks' gestation

T/F: Children with type I OI my not present with any clinical signs at birth and only a history of fracture in infancy or multiple fractures in infancy

True

What does a radiographic skeletal survey show in Type I OI?

Thin and gracile bones.

What does a radiographic skeletal survey show in Type II OI?

Short and thick limbs.

What does a radiographic skeletal survey show in Type III OI?

Cystic changes.

What is the focus of medical management for children with OI?

Symptom management, minimizing fractures, enhancing independent function, and promoting general health.

It is safe to lift an infant with OI by their ankles during diaper changes.

False

Children with OI should be encouraged to explore independent movement, as long as it is done safely.

True

T/F: OI Types I and IV are expected to have a normal lifespan.

True

What condition is a type of skeletal dysplasia that causes abnormal growth and remodeling of cartilage and bone, resulting in a short stature?

Achondroplasia

This condition is commonly referred to as dwarfism.

Achondroplasia

most common skeletal dysplasia

Achondroplasia

What causes achondroplasia?

Autosomal dominant or sporadic genetic mutation in the FGFR3 gene

FGFR3 gene makes a protein involved in_____________

converting cartilage to bone

What is a common symptom of achondroplasia related to the limbs?

Proximal shortening of the arms and legs.

Which facial feature is commonly seen in individuals with achondroplasia?

Frontal bossing (prominent forehead) and midface hypoplasia.

What is a characteristic appearance of the hands in individuals with achondroplasia?

Trident appearance of the hands.

What type of leg deformity is often present in individuals with achondroplasia?

Genu varum (bow legs).

What motor-related issue is commonly seen in children with achondroplasia?

hypotonia

What serious risks are associated with achondroplasia, particularly in infancy?

Compression of the spinal cord and/or upper airway obstruction, increasing the risk of death.

What condition may some children with achondroplasia experience that requires a ventricular shunt?

Hydrocephalus

How is achondroplasia diagnosed?

before birth by fetal ultrasound or after birth by complete medical history and physical examination

What is the current treatment for achondroplasia, and when is it most effective?

-No specific cure for achondroplasia

-Recombinant human growth hormone can be used to augment height

-most effectively when started before 6 years of age

What are the common causes of death in individuals with achondroplasia at different ages?

Children under 4 years: Brainstem compression

Ages 5-24 years: CNS and respiratory abnormalities

Ages 25-54 years: Cardiovascular problems

What muscles are affected by an upper brachial plexus injury (C5-C6)?

Muscles around the shoulder and elbow.

What muscles are affected by a lower brachial plexus injury (C7-T1)?

Muscles of the forearm and hand.