Conditions exam 1

PTSD

emerges in response to an extremely stressful event, or set of events

Symptoms of PTSD manifest in the following ways

• physiological

  • somatic signs

• mental

  • difficulty concentrating

• emotional

  • anxiety, anger

• behavioral

  • recklessness, hyper vigilance

Diagnosis Criteria for Adults

• exposure

  • actual or threatened death, violence, serious injury

• intrusion symptoms

  • recurrent distressing memories, dreams, dissociative reactions such as flashbacks

• attention in arousal and reactivity

  • hyperviligance, irritabile and angry outbursts, reckless, self-destructive behavior, exaggerated startle response, sleep disturbance

• persistent avoidance

  • avoiding stimuli associated with trauma such as thoughts and feeling about it, avoidance of external reminders such as people, places, objects, activities, situations

• negative alterations in cognition and mood

  • inability to remember, persistent negative exaggerated beliefs, detachment, estrangement, anger, hostility, shame

Diagnosis parameters

• duration of disturbance is >1 month

• disturbance causes clinically significant distress or impairment in social, occupational, or other important areas of function and is NOT attributable to physiological effects of substances or another medical condition

PTSD Criteria for Children <6

• exposure

  • directly experience actual or threatened death, injury, violence

  • witness events in person as it occurred to others

  • learning that the trauma occurred to parent or caregiver

  • does not include witnessing in social media, movies, or electronics

• intrusion

  • distressing memories may not appear distressing and may be expressed in play re-enactment

  • recurrent, distressing dreams but may not be possible to determine what the frightening content is about

• dissociation (flashbacks)

  • can include complete loss of awareness of surroundings or a lesser extent; may occur in play re-enactment

  • intense psychological distress at internal or external cues that resemble a part of the traumatic event

Med Management

• psychiatric meds (to manage depression, anxiety, irritability, flashbacks)

• sleep meds

• psychotherapy (exposure, trauma work, eye movement desensitization and reprocessing (EDMR)

• group therapy

Somatic symptoms

• distressing, involve somatosensory sensations (such as pain)

• result in disruption of daily function, excessive and disproportionate thoughts, feelings, behaviors for at least 6 months

Somatic Disorder

• physical symptoms can’t be fully explained by a general medical condition, another mental disorder, or effects of a substance

• can c/o multiple pains

  • muscle, joint, low back, headache, chronic fatigue, non-cardiac-related chest pain, palpitations, irritable bowel, dizziness, insomnia

• higher incidence of depression, IBS, fibromyalgia, chronic pain, PTSD, antisocial personality disorder, and history of physical or x abuse

• difficulty to identify and hard to treat

• high correlation between chronic pain and psychiatric disorders

Illness Anxiety Disorder

• excessive preoccupation with fears of having a serious disease

• can misinterpret symptoms as serious diseases

• high anxiety about health

• maladaptive health behaviors

  • avoids doctors

  • checks body for signs of illness constantly

• not relieved when doctor says they don’t have a disease and/or negative test results

Conversion Disorder

• client has motor and/or sensory symptoms but all tests are normal

• symptoms are inconsistent

  • tremors, dystonia, posturing of limb, weakness, paralysis, gait abnormalities

Factitious Disorders

• falsifies illness in self or others

• reports symptoms to gain attention

• engage in deception to gain access to healthcare

  • may have unnecessary and expensive surges and other medical management

• onset: adulthood and continues throughout life

Munchausen Syndrome (most common subtype of factitious disorder)

• desire for attention is main reason for deception

• don’t want financial gian

• prevalence: women to men 3:1

Intellectual Disability

• significant limitations in both intellectual functioning and in adaptive behavior as expressed in conceptual, social, and practical adaptive skills

Onset

• before age 18

• males are affected 1.5x

Etiology

• genetics

  • Fragile X, Down syndrome, Tay-Sachs, MD

• environmental

  • maternal infection, head injuries, near drowning, fetal alcohol syndrome

• birth defects

  • hydrocephaly, spina bifida, CP, epilepsy, low birth weight

Levels of ID

• mild

• mod

• severe

• profound

Domains of Function

• conceptual

  • language, academic skills

• social

  • relationships

• practical

  • personal care, transportation, meals, banking

• *capacity for each of these areas lessens with greater severity

Signs + Symptoms

• often occurs in tandem with other diagnoses

• IQ tends to be 2 standard deviations below the mean on standardized tests

• significant limitations in adaptive skills

  • communication, self-care, household management, social skills, work, leisure, safety

Med Management

• used not for ID itself, but for other conditions associated with the ID

  • psychiatric meds: to manage depression, anxiety, and behavior problems

  • seizure management in some cases

Prognosis

• depends on cause and whether individual has co-morbid conditions

• sometimes it is progressive, most time NOT progressive

• life long condition

  • profound levels of severity = shorter life span

Phenylketonuria

• genetic disorder causing an increased blood level of phenyalanine

Phenylketonuria Symptoms

• ID

• seizures

• behavioral concerns

• small head size

• psychiatric illness

• heart defects

• eczema

Tay-Sachs

progressive genetic disorder caused by absence of a vital enzyme (HEX-A)

Tay-Sachs Symptoms

• progressive decline in gross motor, fine motor, and cognitive skills

• seizures

• mortality approx age 5

Tuberous Sclerosis

• rare, multi-system genetic disease that causes benign tumors to grow in the brain and other vital organs

• affects CNS resulting in seizures, developmental delay, behavioral abnormalities, skin abnormalities

  • prog depends on severity

Fragile X

result of a mutation at what is known as the fragile site on the X chromosome

Fragile X Symptoms

• ID

• impaired language development

• impaired attention

• physically: long and narrow face, large ears, prominent jaw and forehead, unusually flexible fingers, flat feet

Down Syndrome

• extra genetic material from chromosome 21

• symptoms; ID, developmental delays

• Physical: flattened face, small head, protruding tongue, upward slanting eyes, poor muscle tone

Fetal Alcohol Syndrome

• caused by alcohol consumption during pregnancy

• Signs

  • hyperactivity, ID, impaired language, learning problems, delayed motor skills, coordination, balance

Sickle Cell Disease

a group of inherited red blood cell disorders characterized by low hemoglobin

Hemoglobin

• allows cells to carry oxygen throughout the body

• RBCs live 120 days normally, but SCD RBCs live 10-20 days

SCD RBC’s cells

• get stuck and are brittle and sticky, instead of flexible and soft

• this results in intense pain, acute chest syndrome, and stroke

Cause of SCD

• genetically inherited; autosomal recessive traits

  • requires two inherited abnormal hemoglobin genes

  • if both parents have SCT, have a 25% chance of having a child with SCD with each pregnancy

Diagnosis

at birth due to mandatory screening

Types of SCD

there are many different types of hemoglobin so there are many types, however the most common is sickle cell anemia which accounts for 75% of cases in the US

• some types have a milder clinical cause

Role of Fetal Hemoglobin (HbF)

protects the baby from severe complications in the first year of life which is why effects may not be present right away

Etiology

• higher risk in individuals with African, Asian, Indian, Latin, American, Middle Eastern, and Mediterranean descent

• link discovered between SCD and malarial risk; found that SCD protected young children from getting malaria

  • however is still life threatening worldwide

Social Determinants to SCD

• unfair suspicion of opioid addiction

• wait up to 3 hours for pain relief in ER

• wait is 50% longer for individuals with SCD vs. bone fracture

Anemia

when RBC’s start to sickle, more complications arise such as rupturing of RBCs occurring more quickly (10x more)

Anemia Symptoms

• tiredness and/or weakness

• irritability

• lightheadness

• increased heart rate

• difficulty breathing

• pale skin

• jaundice

• slowed growth

• delayed puberty

Vasocclusion

when RBCs rupture quickly and get stuck in vessels resulting in

• organ or tissue damage

• stroke

• severe pain

• can happen anywhere in the body

Pain Crisis can be triggered by

• dehydration

• high altitudes

• illness

• stress

• sudden changes in temperature

Dactylitis

• pain and swelling in hands and feet

  • if child gets this in first year of life, they are 2x more likely to have severe complications as they get older

Priapism

• persistent, painful penile erection in males

  • if it lasts for >4 hours, can result in irreversible tissue damage

Splenic Complications

• when spleen can no longer filter waste, damaged sickle cells, or bacteria from the blood and results in a life threatening infection

  • Penicillin used in first 5 years to try and avoid infections

Splenomegaly

potential life threatening complication caused by reduced blood volume and leads to sudden and severe anemia

Acute Chest Syndrome Symptoms

• severe pulmonary complication, resulting in a blockage of oxygen in lungs

• tachypnea (rapid breathing)

• dyspnea (shortness of breath)

• fever

• cough

• risk of asthma is higher

What is the primary cause of hospitalization for children and adults with SCD?

Acute Chest Syndrome

Stroke

• serious complication of SCD, with no preventative measures half of children with SCA will have a silent infarct or over stroke by adolescence

• Silent infarcts: can be seen on MRI and can happen as early as 1 year old

  • 1/3 of children will have one before by age 2

  • a history of silent infarcts increases risk for overt stroke

• risk for intellectual deficits increases

T/F? Children with silent strokes have significant deficits in fine motor and cognitive language skills

T

Avascular necrosis

• lack of oxygen to bone tissue

  • 1 in 5 will have this and up to 10% with SCD have this in the femoral head

Visual Deficits

lack of oxygen to eye; blocked small vessels in eye

Delayed Maturation

growth deficits in height, weight, and x maturation

Developmental Delay and Cog Deficits: Early Childhood

• delays in development as early as 9 months

• toddlers: 50% will have delays in expressive language and cognition

• deficits in

  • visual-motor integration

  • sustained attention

  • short term memory

Developmental Delay and Cog Deficits: School Age

• miss an average of 18 days in school; spend 4 days/year in hospital

• decrease in

  • academic work

  • social skills

  • physical ability

  • attention, executive function, processing speed

• silent and overt strokes impact develop and cognition

Developmental Delay and Cog Deficits: Adults

• cog declines over time

  • have more difficulty with employment

Course and Prog

• risk high for developmental delays and cognitive challenges

• life expectancy: several decades shorter

  • Severe: 40s

  • Less severe: 60s

Med/Surg Management

• Pediatric Hematologist

  • speciality care to manage pain and improve outcomes

• Penicillin

  • prophylactic for under 5 years

• Folic acid

  • reduces risk for vas occlusion and improve development

• Hydroxyurea

• Endari: reduce pain crisis

Hydroxyurea

• decrease risk for stroke and mortality

• increase fetal hemoglobin

• decrease acute chest syndrome, pain crisis, blood transfusion, and hospitalization

Ultrasound

measures blood flow in brain and determines risk of stroke

Blood transfusion

due to anemia and prevents stroke

Splenectomy

removal of spleen

Hip replacement

due to avascular necrosis

Cerebral Palsy

• complex, heterogenous condition that primarily impacts motor function

• can occur at different times during development

  • prenatal (before birth)

  • perinatal (around birth)

  • postnatal

• brain-based, non progressive, permanent condition

  • variability in severity

Features of CP

• motor impairment with accompanying disorders of sensory function, cognition, speech, and sometimes seizures

• disorder in sensorimotor development that is manifested by

  • abnormal muscle tone

  • stereotypical patterns of movement

Causes of CP

• the primary cause is NOT BIRTH COMPLICATIONS

• most are congenital

• risk factors

  • low birth weight

  • premature birth

  • postpartum impact of prematurity/low birth weight

  • maternal infection or infant infection

  • fetal stroke

  • gene mutations

  • TBI

Hypertonicity

muscles are more resistive to sudden, passive movement

• 80% of CP cases have this

Contractures

permanent shortening of a muscle or joint and deformities

Spastic Hemiplegia

involves one entire side of the body, including the head, neck, and trunk

Spastic Diplegia

involves both lower extremities, with mild incoordination, tremors, or less severe spasticity in the upper extremities

Spastic quadriplegia

impacts all limbs symmetricaly

• typically flexor pattern in UE’s and extensor pattern in LE’s

• still may be greater in one area vs. another

Athetosis

slow, writhing, involuntary movements of the face and extremities or the proximal parts of the limbs and trunk

• increases with emotional tension and are not present during sleep

Ataxia

unsteadiness and difficulties with balance, particularly with ambulating

• walk faster to compensate for lack of stability and control

• controlled movements clumsy

Hypotonicity

• low tone, floppy

Mixed

• both low and high tone

Diagnosis

• no definitive test

• usually occurs when motor milestones are not met in infancy and preschool years

• rarely diagnosed at birth-usually takes time to notice symptoms

Differential diagnosis

• types of movement patterns observed in child

• atypical or stereotypical movements

• rules out other diagnoses such as MD

• genetic testing

• MRI, CT: evidence of lesions in the brain

Course and Prognosis

• varies depending on type, severity, and presence of associated problems

• secondary problems occur with severe form

  • contractures

  • musculoskeletal deformities

  • arthritis

• survival is deemed to be good, but lower than general population

• adults with CP are more likely to die from respiratory complications

Motor symptoms

• reflex abnormalities

  • hyperreflexia: overactive reflex response to stimulus

  • clonus: involuntary rhythmic muscle contractions

  • enhanced stretch reflex

  • overflow: extraneous movements

Delayed motor development

• failure to achieve motor milestones

Atypical Motor performance

asymmetrical hand use, unusual crawling or gait, uncoordinated reach, tremors, rigid muscles, oral-motor difficulties

Medical/Surgical Management

• reduce spasticity

  • botox

  • baclofen

  • intrathecal baclofen pump

  • surgical tendon lengthening and tendon transfers

• prevent contractures/increase ROM

  • splinting

  • orthotics

  • positioning

• neurology to address seizures

• ophthalmologist to address visual challenges

• ENT & audiology: hearing

Muscular Dystrophy

• causes progressive muscle weakness and loss of muscle mass

• lack or absence of dystrophin (protein that shapes muscle)

• many types

  • some diagnosed at birth/childhood, some in adulthood

• no cure

Genetic Causes of MD

• X linked recessive (x linked)

• autosomal recessive

• autosomal dominant

X linked recessive

mother passes affected gene to her son; mother does not necessarily show symptoms because its recessive

X linked recessive Types

• Duchenne

• Becker

• Emery-Dreifuss

Autosomal recessive

both parents carry and pass genes

Autosomal recessive Types

• Emery-Dreifuss

• Limb-girdle

• oculopharyngeal

• distal

• congenital

Autosomal dominant

normal gene from one parent and affected gene from another patient

Autosomal dominant types

• Emery-Dreifuss

• Limb-girdle

• Fascioscapulohumeral

• Myotonic

• Oculopharyngeal

• Distal

• Congenital

Duchenne MD

• affects only males

• symptoms may not show until 3 or 4

• valley sign: depressed area on posterior axillary fold

• delayed motor skills, proximal weakness, increased fatigue

• weakness is proximal to distal

  • progressive loss of ROM, contractures

• affects LEs first, then UE

• waddling gait, enlarged calf muscles, increased falls, inability to run and jump

• weakness is bilateral and symmetrical

• affects all voluntary skeletal muscles and heart and lungs

• up to 1/3 have cognitive limitations

Becker MD

• primarily males, girls can have this type

• dystrophin is partially functional

• most often appears between 6-18 years old

• proximal to distal progression

  • symmetric, calves and forearms are preserved until much later

• starts in muscles of pelvic girdle and thighs and progresses to trunk and UEs

• slower progression than Duchenne

Symptoms of Becker

• toe walking

• difficulty climbing stairs

• muscle cramps

• Cliff walking

• fatigue

Limb Girdle

• accounts for 50% of subtypes

• diagnosed ages vary

• childhood onset types are similar to symptoms and course of Duchenne

• not always symmetrical

• enlarged calves, severe lordosis, scoliosis

• positive Gower’s sign: use hands and arms to walk up their own body from sit to stand

Limb Girdle symptoms

• enlarged calves

• severe lordosis

• scoliosis

• positive Gower’s sign

  • use hands and arms to walk up their own body from sit to stand

Myotonic

• adolescent or adult onset

• affects males and females

• starts in face, lower legs, forearms, hands, and neck

• delayed relaxation

• sometimes cognitive difficulties

• half don’t live past 50

• cardiac complications

Fascioscapulohumeral

• affects males and females

• onset: 7-20

  • the earlier the onset, the more severe and rapid decline

• face, shoulder, upper arm first

  • difficulty closing eyes, asymmetrical mouth

• winged scapula

• not symmetrical

• NO cardiac complications

Emery-Dreifuss

• affects mostly boys by age 10

• contractures are usually first sign

  • heel cords, elbows, posterior neck

• falls, toe walking

• contractors and weakness are symmetical

• cardiac complications

What types of MD have cardiac complications?

• Duchenne

• Myotonic

• Emery-Dreifuss

How do you get diagnosed?

• must rule out other progressive diseases that mimic MD

• if MD is suspected, order tests to confirm

  • blood work

  • electromyography: to measure electrical activity in muscles

  • muscle biopsy