Pediatric Pathologies Flashcards
_ _ _ 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.
ARTHROGYPOSIS MULTIPLEX CONGENITA (AMC)
Signs and symptoms of AMC: - extremities with minimal _, significant and multiple _, _ of joints and muscle _.
SandS: CYLINDER-LIKE extremities with minimal DEFINITION Significant and multiple CONTRACTURES DISLOCATION of joints Muscle ATROPHY
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.
. . .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.
An _ _ _ (_) is a group of complex brain development disorders that are characterized by difficulties with social interaction, communication and repetitive behaviors.
An AUTISM SPECTRUM DISORDER (ASD) is a group of . . .
Children with ASD can vary widely in their _ _ since ASD is an umbrella term that includes 4 previously isolated disorders. Name the 4.
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
What is the etiology of ASD?
It is not well understood, but it thought to be multifactorial and includes genetic and environmental influences
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 _.
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.
_ _ 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.
CEREBRAL PALSY
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 _.
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.
What are the 2 primary motor patterns associated with CP? Describe the area of the brain that is damaged with each.
Spastic- indicates a lesion in the motor cortex of the cerebrum; upper motor neuron damage
Athenoid- indicates lesion involving the basal ganglia
What are the 4 distributions of involvement that are categorized in CP patients? Definition of each.
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
Treatment for CP is a _ process. Intervention includes ongoing patient/ caregiver _, normalization of _ _, _, _, _ learning and _ milestones, _, - activities and _ skills. _, _ _, and specialized _ may be indicated.
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.
_ _ is a genetic abnormality consisting of an extra 21st chromosome. AKA?
DOWN SYNDROME
AKA- TRISOMY 21
Etiology of Down syndrome includes incomplete _ _ of the 21st pair of chromosomes due to _, _ or _ classification. Advanced _ _ increases the risk of genetic mutation.
. . . 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
_ _ _ 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).
DUCHENNE MUSCULAR DYSTROPHY
Fat and connective tissue eventually REPLACE MUSCLE, and death usually occurs from CARDIOPULMONARY FAILURE prior to 25.
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.
Causative factor is inheritance of an X-LINKED recessive trait.
Childs MOTHER is a silent carrier and only MALE OFFSPRING will manifest the disease.
- _ is a genetic condition that is diagnosed by physical attributes and patterns of behavior rather than genetic testing.
PRADER-WILLI SYNDROME
The causative factor for development of Prader-Willi syndrome is partial deletion of _ _.
. . . Partial deletion of CHROMOSOME 15
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.
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.
With Duchenne muscular dystrophy you will begin to notice progressive impairment with _ and _ that begins around age _ and the inability to _ _.
you will begin to notice progressive impairment with MOBILITY AND ADL’S that begins around age 5 and the inability TO AMBULATE FOLLOWS
Treatment for Prader-Willi Syndrome includes PT for _ control, _ and _, and _ and _ _ skills training
Includes PT for POSTURAL control, EXERCISE and FITNESS, and FINE and GROSS MOTOR skills training.
_ _ 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.
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 .
A _ _ has not been identified with spina Bifida. However causative factors include _ predisposition, _ influence, low level of _ _, maternal _, and certain classifications of _.
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.
What are the 2 classifications of Spina Bifida? Description of each.
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.
