Study guide exam 1 pt.1

Child development is thought to involve the interaction of 3 main factors?

• genetic predisposition

• individual’s own role in development

• Environmental factors 

what is genetic predisposition?

children inherit propensities for certain talents, or abilities, and

genetically transmitted diseases

what is individual’s own role in development?

may include the previous experiences, the willingness to persist in a diAicult activity, resiliency, and the tendency to participate or not participate in activities

what is Environmental factors

• family, community, and sociocultural and socioeconomic influences, as well as opportunities and experiences

• thought to play a critical role in coordinating the timing and pattern of gene expression.

uses the framework of central nervous system, maturation as the foundation for development across all domains

o   Development follows a set invariant sequence.

o   Development is tightly tied to central nervous system development.

o   Motor development is cephalocaudal and proximal to distal.

o   Recent modifications, acknowledge, variations in the sequence and input from all systems.

Neuromaturational view

refers to the development of “age-appropriate mental functions especially in perceiving, understanding, and knowing, that is, become capable of doing intellectual tasks.”

o Thinking develops in stages of increasing complexity.

o Children organize mental schema through the use of mental operations.

o To adapt children must go through the processes of assimilation, accommodation, and

equilibration

Cognitive view

the process in which parents and others provide environmental challenges that encourage the child to perform a higher level skill.

   Scaffolding

Behavior is shaped by the environment.

o   The stimulus, response, and environmental consequence constitute a contingency of behavior.

o   Consequences of behavior influence future occurrences of this behavior.

o   Applied behavioral analysis (ABA) is the application of behavioral theory.

§  Include positive reinforcement, extinction (planned ignoring), negative reinforcement (the avoidance of an unpleasant event that increases the likelihood of the behavior), and punishment.

Behavioral/Learning view

assumes that behavior results from an interaction of genetic and environmental events, and that most behaviors are learned responses

§  A behaviorist asserts that positively reinforced behaviors will occur with greater frequency than if the consequence of a behavior as punishment, because there is a decreased probability that the behavior will reoccur

Behavioral view

successive approximations of the desired behavior are reinforced until the individual can perform the desired behavior

Shaping

There are biologically determine  drives and unconscious conflicts.

o   The core of these conflicts is sexual.

o   Initial drives are for survival  once basic needs are met, we seek self actualization.

Psychoanalytical/psychosocial view

what is Ecological systems theory, contextual views?

emphasize family centered care

The environment has a strong influence on child development

what is Dynamic systems theory

theory of motor development across the lifespan

o   Movement emerges based on the internal environment, the external environment, and task.

Movement Is not directed by one system, but by many dynamic, interacting systems

what is Neuronal group selection

o   Infant motor development includes periods of increased and decreased variability due to changes in the central nervous system.

o   Cortical and subcortical systems dynamically organize into a variable neural networks.

o   Repeated activity may cause neurons involved in the activity fire together

what is family systems theory?

Involves understanding the inner workings of families, critical to childhood development.

o   There is a focus on the interactions within families and the mutual influences exerted by family members.

o   This theory reinforces the need to be sensitive to cultural and ethnic differences among families.

Failure to thrive →

multidiscipline team needed

what is Angelman Syndrome Etiology (chromosomal location)

Partial deletion of chromosome 15.

o   Maternal source

what is Angelman Syndrome Body Function/Structure Impairments

Severe cognitive impairment, microbrachycephaly, seizures, ataxic gait, characteristic arms held with flexed wrists and elbows, and frequent laughter not associated with happiness, autism

what is Angelman Syndrome Potential Limitations in Activities and Participation Restrictions

Severe limitations and speech, most activities of daily living, and mobility.

o   Will require assistance throughout life.

what is Cri-du-chat Syndrome etiology Etiology (chromosomal location)

Partial deletion of short arm of fifth chromosome

what is Cri-du-chat Syndrome Body Function/Structure Impairments?

Severe cognitive impairment, microcephaly, and abnormal laryngeal development leading to a characteristic high-pitched cry

what is Cri-du-chat Syndrome Potential Limitations in Activities and Participation Restrictions

o   Severe limitations in speech, and most ADLs.

o   Will require assistance throughout life.

what is Klinefelter Syndrome → 47XXY Etiology (chromosomal location)

o   Not inherited extra X chromosome in males

what is Klinefelter Syndrome → 47XXY Body Function/Structure Impairments

Hypogonadism, infertility, long limbs, and slim stature

o   possible behavioral or psychiatric problems

what is Klinefelter Syndrome → 47XXYPotential Limitations in Activities and Participation Restrictions

Poorly organized motor function, but ambulatory. Slight delay in language, possibly affecting some activities. May have limitations due to behavior.

what is Prader-Willi Syndrome Etiology (chromosomal location)

Partial deletion of chromosome 15 from paternal source

what is Prader-Willi Syndrome  Body Function/Structure Impairments

Mild intellectual impairment, hypotonia in infancy, short stature, and hyperphagia- driven obesity

what is Prader-Willi Syndrome Potential Limitations in Activities and Participation Restrictions

Limitations with some activities, depending on the degree of intellectual impairment and obesity

what is trisomy 13 Etiology (chromosomal location)

Autosomal trisomy of 13^th chromosome

what is trisomy 13 ·      Body Function/Structure Impairments

Severe CNS abnormalities and defects of the eyes, nose, lips, forearms, hands, and feet

what is trisomy 13 Potential Limitations in Activities and Participation Restrictions

o   Severe limitations in speech, most ADLs and mobility. Requires assistance throughout life.

o   Only 10% survive the first year of life.

what is Trisomy 18 → edwards syndrome Etiology (chromosomal location)

Autosomal trisomy of 18^th chromosome

what is Trisomy 18 → edwards syndrome ·      Body Function/Structure Impairments

o   Severe intellectual impairment.

o   Significant cardiovascular, skeletal, urogenital, and gastrointestinal anomalies.

what is Trisomy 18 → edwards syndrome   Potential Limitations in Activities and Participation Restrictions

Severe limitations requiring extensive assistance. Frequently die during the first year of life.

what is Trisomy 21 → down syndrome Etiology (chromosomal location)

o   Autosomal trisomy of 21^st chromosome in 95%.

o   Other 5% may be due to translocation or mosaicism.

what is Trisomy 21 → down syndrome Body Function/Structure Impairments

Hypotonia, hyperflexibility, flat facial features and slanted eyes, pelvic hypoplasia with shallow acetabular angle, single mid-Palmer crease, intellectual impairment, and frequently cardiac anomalies

what is Trisomy 21 → down syndrome Potential Limitations in Activities and Participation Restrictions

Delay in achieving most gross and fine motor skills and language. Will learn most ADLs, attends school in special education and related services. As young adults may work and live outside home with supports.

what is turner syndrome → 45XO Etiology (chromosomal location)

Sex chromosome abnormality in females

what is turner syndrome → 45XO Body Function/Structure Impairments

Small stature, web-like appearance of the lateral neck, transient congenital lymphedema, gonadal under development, hearing impairment, bone trabeculae abnormalities, possible visual/perceptual limitations, and possible intellectual impairment

what is turner syndrome → 45XO Potential Limitations in Activities and Participation Restrictions

Short stature might restrict some activities, but otherwise have generally few limitations

what is cystic fibrosis (CF) ·      Etiology (chromosomal location)

Autosomal recessive

what is cystic fibrosis (CF) Body Function/Structure Impairments

Disorder of exocrine glands leading to pancreatic insufficiency, hyperplasia of mucus producing cells in the lungs, and excessive electrolyte secretion of sweat glands

what is cystic fibrosis (CF) Potential Limitations in Activities and Participation Restrictions

Endurance may be a limited due to pulmonary involvement, but may participate in sports. Frequent need for secretion removal from airways may limit time available for some activities. With advances an intervention, many with CF live well into adulthood.

what is CHARGE syndrome Etiology (chromosomal location)

Autosomal dominant

what is CHARGE syndrome Body Function/Structure Impairments

o   C  Coloboma of the eye

o   H  heart deficits

o   A  atresia choanal

o   R  growth retardation

o   G and E  genital and ear abnormalities

o   Intellectual impairment

what is CHARGE syndrome Potential Limitations in Activities and Participation Restrictions

Heart defects can be life-threatening. Cranial nerve dysfunction can cause swallowing problems, hearing loss and facial paralysis. May have delayed motor development and speech problems.

what is Achondroplasia Etiology (chromosomal location)

Autosomal dominant → point mutation in the gene coding for fibroblast growth factor receptor 3

what is Achondroplasia Body Function/Structure Impairments

o   Skeletal dysplasia, disturbance of endochondral ossification at epiphyseal end plate resulting in short stature, bilateral shortness of humerus and femur, and macrocephaly.

o   May have spinal complications → kyphosis

what is Achondroplasia Potential Limitations in Activities and Participation Restrictions

Possible reduced efficiency and activities due to gait deviation. Short stature may require accommodations for some activities.

what is duchenne muscular dystrophy Etiology (chromosomal location)

X-linked deletion of the dystrophin gene in males

what is duchenne muscular dystrophy Body Function/Structure Impairments

o   Intrinsic muscle disease, creatine kinase is elevated and dystrophin absent.

o   Leads to progressive intrinsic muscle weakness  commonly observed by three years of age

o   weakness from proximal to distal muscles.

what is duchenne muscular Potential Limitations in Activities and Participation Restrictions                  

Might have delay in early motor milestones. Progressive loss of motor abilities during childhood, leading to wheelchair use and further limitations in activities. Death in early adulthood.

what is fragile X syndrome Etiology (chromosomal location)

X-linked  fragile site at Xq27

what is fragile X syndrome Body Function/Structure Impairments

Hypotonia, characteristic physical appearance, moderate to borderline intellectual disability, delayed motor milestones, and emotional lability

what is fragile X syndrome Potential Limitations in Activities and Participation Restrictions

Depends on degree of intellectual impairment, but generally fewer restrictions in activities and participation related to motor skills

what is hemophilia Etiology (chromosomal location)

X-linked in males

what is hemophilia Body Function/Structure Impairments

Factor VIII (hemophilia A) or Factor IX (hemophilia B) deficiency resulting in impaired blood clotting capability.

o   Can lead to reduced range of motion and muscle strength in joints into which bleeding occurs, especially at the knee, ankle, and elbow.

what is hemophilia Potential Limitations in Activities and Participation Restrictions

Ambulatory and can perform ADLs. May experience limitations of joint motion and pain. Contact sports restricted. Intracranial hemorrhage can lead to death.

what is Tuberous Sclerosis Complex Etiology (chromosomal location)

o   Autosomal dominant with variable expressivity.

o   Mutation of gene on chromosome 9 or 16.

what is Tuberous Sclerosis Complex Body Function/Structure Impairments

Multiple benign hematomas resulting in wide variability in expression and a range of impairments

what is Tuberous Sclerosis Complex Potential Limitations in Activities and Participation Restrictions

Depends on control of seizures and degree of intellectual impairment

what is willaims syndrome Etiology (chromosomal location)

Autosomal dominant.

o   Deletion of long arm from chromosome 7

what is willaims syndrome Body Function/Structure Impairments

Characteristic facial features, heart defects, mild to moderate intellectual impairment, hypersocial personality, visual/spatial deficits

what is willaims syndrome Potential Limitations in Activities and Participation Restrictions

Depends on extent of intellectual impairment and perceptual motor problems

Family centered care is a service delivery philosophy and approach that respects __

rights, roles, and abilities of family members.

• Family centered care in pediatrics is based on the philosophy that the family plays a central role in the life of a child, and the needs of children can best be met by involving their families

family center Services are provided through __

• a collaboration with the family and child to support their goals and promote their well-being and quality of life.

• A supportive environment may minimize the effects of biological risks

• The child’s characteristics and the environment together influence functional outcomes.

Interventions for the family can indirectly influence the

child’s development and function

what is family definiton?

defined more by emotional or functional elements than by structural or legal elements.

o   The family is a group of people who love and care for each other.

what is Family centered care?

“a collaborative relationship between families and professionals in the continual pursuit of being responsive to the priorities and choices of families.”

what is Parent-professional partnership

“parents and other family members working together with professionals in pursuit of a common goal. Where the relationship between the family and the professional is based on shared decision, making and responsibility and mutual trust and respect.”

Therapists can promote __

motor function, playfulness, and self-esteem by using play as a context for therapy.

what can play include?

o   Play include sensory, neuromuscular, and mental processes.

o   Play with motions is an integral part of physical therapy.

o   Play makes therapy more meaningful as it elicits a child’s attention, motivation, cooperation, and initiation.

o   Through play, Physical therapists support children’s playfulness, their enjoyment, and their engagement with activities.

Physical therapists are concerned, not only with teaching children motor skills, but also

with helping children gain the confidence to use those skills in their daily interactions.

Therapist can guide activities to

scaffold collectively the motor, cognitive, communication, and social components.

what is Congenital Talipes Equinovarus (AKA clubfoot)

• bone anomaly that results in a midfoot cavus (high arch), forefoot adductus, hindfoot varus, and ankle equinus.

• Pathological positioning of the navicular, talus, cuboid, cancaneus, os calcis navicular cuboid, and metatarsal bones all contribute to the deformity

Congenital Talipes Equinovarus (AKA clubfoot) is Classified into 4 types

postural, idiopathic, neurogenic, and syndromic

Congenital Talipes Equinovarus (AKA clubfoot) prevalence is?

1-1.2 of every 1,000 live births in Caucasians but can be much higher in other ethnic groups.

Congenital Talipes Equinovarus (AKA clubfoot) occurs in?

It occurs more frequently in males (2:1)

what is Congenital Talipes Equinovarus (AKA clubfoot) etiology?

Historically club foot was attributed to prolonged foot positioning, associated with breach position, or fetal/placental size imbalance

·      Petite mom and big baby

§  More recently it is thought that genetic and environmental factors play an important role.

Without __, a club foot deformity is not self-correcting.

intervention

is pain associated with congenital Talipes Equinovarus (AKA clubfoot)

o   Pain is not typically associated with this fixed deformity.

what are treatment options for congenital Talipes Equinovarus (AKA clubfoot)

Treatment options for children born with clubfeet include serial casting and surgical intervention.

what method is for congenital Talipes Equinovarus (AKA clubfoot)

The Ponsetti method consists of manipulation, serial casting, Achilles, tenotomy, and bracing

what is Talipes Equinovarus

-Displacement of the navicular, calcaneus, and cuboid bones around the talus

-Unknown

-Speculated multifactorial  genetic component, arrested embryonic development, neuromuscular abnormalities, mechanical uterine constriction

what occurs in Talipes Equinovarus

Hindfoot equinus with varus of the forefoot and heel and adducted forefoot

what does Talipes Equinovarus interfere with

-Interferes with standing, ambulation, and other upright activities

-Difficulty fitting shoes

-Cosmesis

what is Congenital Muscular Torticollis (CMT)

Non-progressive unilateral contracture or fibrosis of the sternocleidomastoid muscle.

The incidence of CMT is between _% and _% of newborns.

3.9% ;16%

There has been a notable increase in the prevalence of CMT since the introduction of the

back to sleep campaign, and CMT has been found to be a slightly more prevalent in males versus females, and also an infants who have had utero opioid exposure.

Children with CMT typically

• hold their heads position in ipsilateral lateral flexion, and contralateral rotation.

• Early referral is important

Early intervention for CMT may lead to

shorter episodes of care, decreased muscle thickness, and improved overall quality of life for the patient and family.

Studies have found that when treatment is initiated within the first __months of age, patients have an excellent rate of recovery, with 99% to 100% of patients achieving full neck ROM and only 0 to 1% of patients requiring surgical intervention.

3 to 4 months

Early intervention for CMT via PT should include

neck PROM, neck and trunk AROM, symmetrical movement development, environmental adaptations, and caregiver education including instruction in prone positioning, neck stretching exercises, feeding positions, and progression of motor development.

Criteria for CMT discharge include

PROM within 5° of the non-affected side, symmetrical active movement patterns, age-appropriate motor development, no visible head tilt, and the parent/caregivers understand what to monitor as a child grows

what is Plagiocephaly

misshapen head or facial asymmetries

what does Plagiocephaly often accompany?

CMT

what is the first treatment line for Plagiocephaly

Head repositioning as the first treatment line and should be included for every child.

for Plagiocephaly PT has been found to be more effective in

treatment for positional plagiocephaly versus only providing repositioning education to caregivers.

what is recommended treatment for Plagiocephaly ?

Recommended treatment interventions include preventative, repositioning, and counter positioning to keep the child off the flattened part of the head while sleeping and during play and spending more awake time in prone.

Brachial Plexus Injury (BPI)

Occurs when the spinal nerve roots of C5, C6, C7, C8, and T1 are stretched, causing transient or permanent nerve damage and interrupting muscle, innervations and diminishing sensation.