Neuro Peds Pathology Flashcards
Arthrogryposis Multiplex Congenita (AMC)
- non-progressive
- restriction of movement in utero => fibrosis of muscles and joint structures
Arthrogryposis Multiplex Congenita (AMC) Etiology
- most cases unknown cause; small genetic link to autosomal dominant trait
- A causative factor is lack of movement inutero in early development
Athrogryposis Multiplex Congenita (AMC) s/sx (4)
- Cylindrical extremities with minimal definition
- Muscle atrophy
- Dislocation of joints
- Significant and multiple contractures**
Arthrogryposis Multiplex Congenita (AMC) treatment
- Attain maximal level of developmental skills; stretching, positioning, strengthening, splinting, use of adaptive equipment
- Family/caregiver education
- Possible surgical intervention
Autism Spectrum Disorder (ASD)
- Umbrella term for group of brain development disorders
- Characterized by difficulty with social interaction and communication, as well as repetitive behaviors
Autism Spectrum Disorder (ASD) Etiology
Multifactorial cause including genetics and environmental factors
ASD s/sx
- Emerge at age 2 or 3
- nonpurposeful/no speech
- awkwardness in social interactions
- inability to understand body language
- lack of empathy
- defensiveness or indifference toward sensory stimulation
- repetitive self-stimulating behaviors
- perseverations
- preoccupations with routines/rituals
ASD Treatment
- focuses on improving social communication/decreaseing non-purposeful movements and vocalizations
- Possible sensory integration therapy
Cerebral Palsy (CP)
- Umbrella term to desribe non-progressive movement disorders due to brain damage acquired in utero, during birth, or in infancy
- Brain damages decreases the brain’s ability to monitor/control nerve/voluntary muscle activity
CP etiology
- Can occur in utero or secondary to hypoxia, maternal infections, drug/alcohol abuse, placental abnormalities, toxemia, prolonged labor, prematurity, and Rh incompatiability
- Cases vary in severity and intellectual disability may be seen in severe cases
Causes of Acquired CP (3)
meningitis, CVA, seizures, and brain injury
CP motor patterns (mix patterns exist!) (2)
1) Spastic CP
2) Athetoid CP
Spastic CP
UMN lesion in motor cortex
Athetoid CP
Basal ganlia lesion
Possible distrubtions of CP involvement (4)
1) Monoplegia: one extremity
2) Diplegia: Bilateral lower extremity involvement
3) Hemiplegia: unilateral UE/LE involvement
4) Quadraplegia: entire body involved
CP Treatment
- Lifelong process
- Normalization of tone
- stretching
- strengthening
- motor learning
- developmental milestones
- positioning
- weight bearing activities
- mobility skills
- splinting/AD/specialized seating
- possible surgical intervention to reduce spasticity
Down Syndrome
Extra third 21st chromosome (trisomy 21)
Down Syndrome Etiology
incomplete cell division at 21st pair of chormosomes due to nondisjunction, translocation, or mosaic classification
Down Syndrome s/sx (8)
- intellectual disability
- hyoptonia/joint hypermobility
- flattened facial features
- almond-shaped eyes
- flat feet
- scoliosis
- congenital heart disease**
- visual/hearing loss
Down Syndrome treatment
- emphasize exercise and fitness, stability
- maximize respiratory function
- family/caregiver education
- possible surgical intervention for cardiac abnormalities
Duchenne Muscular Dystrophy (DMD)
- progressive disorder caused by absence of gene required to produce muscle proteins (dystrophin and nebuilin)
- Fat/CT eventually replace muscle
- Typically die in teens due to cardiopulmonary failure
DMD etiology
- Genetic disorder**- x-linked recessive trait
- mother is “silent carrier” and only males will manifest the disease
DMD s/sx
- Symptoms usually manifest between 2-5 years old
- progessive weakness
- Falling
- toe walking
- excessive lordosis
- pseudohypertophy of muscle groups (calf)**
- Progressive impairment with ADLs and mobility around age 5 => eventual inability to walk
DMD PT treatment
- respiratory function
- submax exercise**
- mobility skills
- splinting
- orthotics
- adaptive equipment
- family/caregiver education
- med management: immunsuppresants, steroids
Prader-Willi Syndrome diagnosis
Diagnosed by physical attributes and behavior patterns
Prader-Willi Syndrome Etiology
Partial deletion of chromosome 135
Prader-Willi Syndrome s/sx (physical and behavioral)
- Physical characteristics: small hands, feet, and sex organs, hyotonia, almond-shaped eyes, obesity, incoordination, intellectual disability
- Behavioral characteristics: constant desire for food*
Prader-Willi Syndrome Treatment
- Postural control
- Exercise and fitness
- Gross and fine motor skills training
Spina Bifida
Developmental abnormality d/t failure of neural tube closing by 28th day of gestation
Spina Bifida Etiology
Multiple factors, but attributed to insufficient folic acid intake by mother
Spina Bifida Classfications (2)
1) Spina Bifida Occulta
2) Spina Bifida Cystica
Spina Bifida Occulta
- Non-fusion of the spinous processes of vertebrae, but spinal cord and meninges stay intact
- No associated disability
Spina Bifida Cystica
- Cyst-like protrusion through the unfused vertebrae
- Results in impairment; worse prognosis than SB Oculta
Forms of Spina Bifida Cystica (2)
1) Spina Bifida Cystica Meningocele
2) Spina Bifida Cystica Myelomeningocele
Spina Bifida Cysta: Meningocele
- Herniation of meninges and CSF and meninges into a sac that protrudes through the vertebral defect
- Spinal cord remains within the canal
Spina Bifida Cystica: Myelomeningocele
- Severe form
- Herniation of meninges, CSF, and spinal cord extending through defect in the vertebrae
- Cyst may or may not be covered in skin
Spina Bifida Cystica: Myelomeningocele s/sx
- motor loss bleow level of defect in spinal cord
- sensory deficits
- hydrocephalus**
- Arnold-Chiari Type II malformation
- osteoporosis
- clubfoot**
- scoliosis
- tethered cord syndrome
- latex allergy**
- bowel/bladder dysfunction
- learning disabilities
Spina Bifida Treatment
- Family education
- Facilitation of developmental milestones
- Skin care
- Strengthening
- Balance and mobility training
- Adaptive Equipment
- Splinting
- Orthotic prescription
- Wheelchair prescription
Spinal Muscular Atrophy (SMA)
Progressive degeneration of the anterior horn cells
SMA Etiology
Autosomal recessive inheritance (mutation of chromosome 5)
Types of SMA (3)
1) Acute Infntile SMA: life expectancy < 1 year
2) Chronic Childhood SMA: Steady impairment, though child can survive into adulthood
3) Juvenile SMA: Occurs later in childhood (4-17), typically survive into adulthood
SMA s/sx (same regardless of type)
- Vary in onset/speed of progression
- Progressive muscle weakness and atrophy
- Diminished/absent DTRs
- End-stage respiratory compromise**
- Sensation and cognition unimpaired**
SMA treatment
- Sesnsory stimulation
- Supportive care: family education, mobility training, use of AD/equipment
