Pediatric Pathologies

Question 1

_ _ _ is a non-progressive neuromuscular disorder that is estimated to occur during the 1st trimester in-utero. Restriction in the uterus allows for fibrosis of muscles and structures within the joint.

Answer 1

ARTHROGYPOSIS MULTIPLEX CONGENITA (AMC)

Question 2

Signs and symptoms of AMC: - extremities with minimal _, significant and multiple _, _ of joints and muscle _.

Answer 2

SandS: 
CYLINDER-LIKE extremities with minimal DEFINITION
Significant and multiple CONTRACTURES
DISLOCATION of joints
Muscle ATROPHY

Question 3

The goal of treatment for AMC is to attain the maximum level of developmental skills through _, _, _, _ and use of _ _. Significant family involvement is required for the _ program, _ intervention may be indicated.

Answer 3

. . .Is to attain the maximum level of developmental skills through POSITIONING, STRENGTHENING, STRETCHING, SPLINTING and use of ADAPTIVE EQUIPMENT.

Significant family involvement is required for the HOME program

SURGICAL intervention may be indicated.

Question 4

An _ _ _ (_) is a group of complex brain development disorders that are characterized by difficulties with social interaction, communication and repetitive behaviors.

Answer 4

An AUTISM SPECTRUM DISORDER (ASD) is a group of . . .

Question 5

Children with ASD can vary widely in their _ _ since ASD is an umbrella term that includes 4 previously isolated disorders. Name the 4.

Answer 5

Children with ASD can vary widely in their FUNCTIONAL LEVEL since . . .

4 previous disorders:

• childhood disintegrative disorder
• autistic disorder
• pervasive developmental disorder (not otherwise specified)
• asperger’s syndrome

Question 6

What is the etiology of ASD?

Answer 6

It is not well understood, but it thought to be multifactorial and includes genetic and environmental influences

Question 7

AT which age do the signs and symptoms of ASD usually appear? Treatment is usually _, and may focus on improving _ _ and decreasing _ _ and _. _ integration therapy may also be used. The prognosis for patient is directly related to the _ of the _.

Answer 7

2-3 years of age

Treatment is usually MULTIDISCIPLINARY and may focus on improving SOCIAL COMMUNICATION and decreasing NON-PURPOSEFUL MOVEMENTS and VOCALIZATIONS.

The prognosis for patient is directly related to the SEVERITY of the CONDITION.

Question 8

_ _ is an umbrella term used to describe movement disorders due to brain damage threat are non-regressive and are acquired in utero, during birth or infancy.

Answer 8

CEREBRAL PALSY

Question 9

Characteristics of CP vary from _ and _ to severe loss of _ accompanied by profound _ _. All types of CP demonstrate abnormal muscle _, impaired _ of _, presence of _ _, and impaired _.

Answer 9

Characteristics of CP from MILD and UNDETECTABLE to severe loss of CONTROL accompanied by profound INTELLECTUAL DISABILITY.

All types of CP demonstrate abnormal muscle TONE, impaired MODULATION of MOVEMENT, presence of ABNORMAL REFLEXES, and impaired MOBILITY.

Question 10

What are the 2 primary motor patterns associated with CP? Describe the area of the brain that is damaged with each.

Answer 10

Spastic- indicates a lesion in the motor cortex of the cerebrum; upper motor neuron damage

Athenoid- indicates lesion involving the basal ganglia

Question 11

What are the 4 distributions of involvement that are categorized in CP patients? Definition of each.

Answer 11

Monoplegia- one extremity affected

Diplegia- bilateral lower extremity involvement; however upper extremities may be affected

Hemiplegia- unilateral involvement of the upper and lower extremities

Quadriplegia- involvement of the entire body

Question 12

Treatment for CP is a _ process. Intervention includes ongoing patient/ caregiver _, normalization of _ _, _, _, _ learning and _ milestones, _, - activities and _ skills. _, _ _, and specialized _ may be indicated.

Answer 12

Treatment for CP is a LIFELONG PROCESS

Intervention includes ongoing patient/ caregiver EDUCATION, normalization of MUSCLE TONE, STRENGHTENING, STRETCHING, MOTOR learning and DEVELOPMENTAL milestones, POSITIONING, WEIGHT-BEARING activities and MOBILITY skills.

SPINTING, ASSISTIVE DEVICES, and specialized SEATING may be indicated.

Question 13

_ _ is a genetic abnormality consisting of an extra 21st chromosome. AKA?

Answer 13

DOWN SYNDROME

AKA- TRISOMY 21

Question 14

Etiology of Down syndrome includes incomplete _ _ of the 21st pair of chromosomes due to _, _ or _ classification. Advanced _ _ increases the risk of genetic mutation.

Answer 14

. . . Includes incomplete CELL DIVISION of the 21st pair of chromosomes due to NONDISJUNCTION, TRANSLOCATION OR MOSAIC classification.

Advanced MATERNAL AGE increases the risk of genetic mutation

Question 15

_ _ _ is a progressive disorder caused by the absence of he gene required to produce the muscle proteins dystrophin and nebulin. Fat and connective tissue eventually _ _, and death usually occurs from _ _ prior to age 25 (usually in the teen years).

Answer 15

DUCHENNE MUSCULAR DYSTROPHY

Fat and connective tissue eventually REPLACE MUSCLE, and death usually occurs from CARDIOPULMONARY FAILURE prior to 25.

Question 16

Etiology of Duchenne muscular dystrophy: Causative factor is inheritance of an - recessive trait. Child’s _ is a silent carrier, and only _ _ will manifest the disease.

Answer 16

Causative factor is inheritance of an X-LINKED recessive trait.

Childs MOTHER is a silent carrier and only MALE OFFSPRING will manifest the disease.

Question 17

- _ is a genetic condition that is diagnosed by physical attributes and patterns of behavior rather than genetic testing.

Answer 17

PRADER-WILLI SYNDROME

Question 18

The causative factor for development of Prader-Willi syndrome is partial deletion of _ _.

Answer 18

. . . Partial deletion of CHROMOSOME 15

Question 19

Characteristics of Prader-Willi syndrome include: physical and behavioral attributes such as small _, _ and _ _, _, _-shaped eyes, _ and a constant desire for _. Child will present with _ impairments and _ disability.

Answer 19

Include: physical and behavioral attributes such as small HANDS, FEET AND SEX ORGANS, HYPOTONIA, ALMOND- shaped eyes, OBESITY and a constant desire for FOOD.

Child will present with COORDINATION impairments and INTELLECTUAL disability.

Question 20

With Duchenne muscular dystrophy you will begin to notice progressive impairment with _ and _ that begins around age _ and the inability to _ _.

Answer 20

you will begin to notice progressive impairment with MOBILITY AND ADL’S that begins around age 5 and the inability TO AMBULATE FOLLOWS

Question 21

Treatment for Prader-Willi Syndrome includes PT for _ control, _ and _, and _ and _ _ skills training

Answer 21

Includes PT for POSTURAL control, EXERCISE and FITNESS, and FINE and GROSS MOTOR skills training.

Question 22

_ _ is a developmental abnormality due to insufficient closure of the neural tube by the 28th day of gestation. This defect usually occurs in the lower _, _, or _ regions and affects the CNS, musculoskeletal, and urinary systems.

Answer 22

SPINA BIFIDA is a developmental . . .

This defect usually occurs in the lower THORACIC, LUMBAR OR SACRAL regions and affects the CNS, musculoskeletal, and urinary systems .

Question 23

A _ _ has not been identified with spina Bifida. However causative factors include _ predisposition, _ influence, low level of _ _, maternal _, and certain classifications of _.

Answer 23

A SINGLE ETIOLOGY has not . . .

However causative factors include GENETIC predisposition, ENVIRONMENTAL influence, low level of MATERNAL FOLIC ACID, maternal HYPERTHERMIA, and certain classification of DRUGS.

Question 24

What are the 2 classifications of Spina Bifida? Description of each.

Answer 24

Spina Bifida Occulta: impairment and non-fusion of the spinous process of a vertebrae, however the spinal cord and meninges are intact. Usually no associated disability.

Spina Bifida Cystica: presents with cyst-like protrusion through the non-fused vertebrae, which results in impairment.

Question 25

What are the 2 forms of Spina Bifida Cystica?

Answer 25

Meningocele

Myelomeningocele

Question 26

The _ form of Spina Bifida Cystica is characterized by herniation of the meninges and cerebrospinal fluid into a sac that protrudes through the vertebral defect. The spinal cord remains?

Answer 26

The MENINGOCELE form of spina . . .

The spinal cord remains WITHIN THE CANAL

Question 27

The _ form of Spina Bifida Cystica is a severe form characterized by herniation of the meninges, cerebrospinal fluid, and the spinal cord extending through the defect in the vertebrae. The cyst may or may not?

Answer 27

The MYELOMENINGOCELE form of . . .

The cyst may or may not BE COVERED BY SKIN

Question 28

Characteristics and associated impairments of myelomeningocele include _ loss below the level of the defect in the spinal cord, _ deficits, _, - type II malformation, _, _, _, _ _ syndrome, _ allergy, _ and _ dysfunction and _ disabilities.

Answer 28

Include:
MOTOR loss below the level of the defect in the spinal cord, SENSORY deficits, HYDROCEPHALUS, ARNOLD-CHIARI type II malformation, OSTEOPOROSIS, CLUBFOOT, SCOLIOSIS, TETHERED CORD syndrome, LATEX allergy, BOWEL AND BLADDER dysfunction and LEARNING disabilities.

Question 29

PT treatment for patients with Myelomeningocele is _ through _ and is based on the _ of _ and the _ of the child.

Answer 29

PT treatment for patients with myelomeningocele is ONGOING through ADOLESCENCE and is based on the SEVERITY of IMPAIRMENTS and the NEEDS of the child

Question 30

_ _ _ (_) is characterized by progressive degree ration of the anterior horn cell. Etiology is an _ _ genetic inheritance.

Answer 30

SPINAL MUSCULAR ATROPHY (SMA) is characterized . . .

Etiology is an AUTOSOMAL RECESSIVE genetic inheritance

Question 31

What are the 3 types of SMA?

Answer 31

JAC

• Juvenile SMA (type 3- Kugelberg- Welander SMA)
• Acute infantile SMA (type 1- Werdnig-Hoffman disease)
• Chronic Childhood SMA (type 2- Chronic Werdnig-Hoffman disease)

Question 32

Which form of SMA is being described: Onset occurs between birth and 2 months of age. Motor degeneration progresses quickly and life expectancy is less than 1 year

Answer 32

Acute infantile SMA (type 1: Werdnig-Hoffman disease)

Question 33

Which form SMA is being described: Presents after 6 month to one year and has slower progressing than type 1 SMA. Impairment is stead, however a child can survive into adulthood.

Answer 33

CHRONIC CHILDHOOD SMA (type 2- Chronic Werdnig-Hoffman disease)

Question 34

Which form of SMA is being described: Occurs later in childhood, from 4-17 years of age. Children typically survive into adulthood

Answer 34

Juvenile SMA (Type 3- Kugelberg-Welander SMA)

Question 35

Characteristics for all categories of SMA disease _ _ _, and vary in _ and _ of _.

Answer 35

Characteristics for all categories of SMA disease ARE THE SAME, and vary in ONSET and SPEED OF PROGRESSION.

Question 36

Characteristics of SMA include: progressive muscle _ and _, diminished or absent _ _ _, normal _, intact _, and - _ compromise.

Answer 36

Include:
Progressive muscle WEAKNESS AND ATROPHY
Diminished or absent DEEP TENDON REFLEXES
Normal INTELLIGENCE
Intact SENSATION
END-STAGE RESPIRATORY compromise

Question 37

Treatment for SMA includes: _, _ and _ stimulation, and access to _. Treatment for slower progressing categories is primarily supportive including _ caregivers, _ training, and use of _ _ and _ _.

Answer 37

Includes: POSITIONING, VESTIBULAR and VISUAL stimulation and access to PLAY.

Treatment for slower progressing categories is primarily supportive including EDUCATING caregivers, MOBILITY training, and use of ASSISTIVE DEVICES and ADAPTIVE EQUIPMENT.