Pediatric Diagnoses Flashcards

1
Q

Attention Deficit (Hyperactivity) Disorder (ADHD/ADD)

A
  • Functioning impeded due to hyperactivity, distraction, lack of focus
  • ADHD = hyperactive, physical energy; ADD = distracted, forgetful, lower energy
  • No known cause; could be genetics/CNS issue
  • OT works on interpersonal skills, sensory strategies, concentration; work with family and school
  • Child may take medication (stimulants, antidepressants); behavioral therapy/counseling
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2
Q

Angelman Syndrome

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  • Rare neuro-genetic disorder that impacts nervous system
  • Developmental delays, intell. disab., speech imp., gastro issues, movement/balance, and epilepsy
  • Small head, happy disposition/laughter; lives long life
  • May be caused by gene mutation; cannot be prevented
  • OT uses sensory processing, vestibular, fine and gross motor, safety, ADL and social skills interventions
  • Patient works in speech path., PT, OT, nutrition, neurologist, ABA therapy. May use gene therapy.
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3
Q

Autism Spectrum Disorder (ASD)

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  • Neurodevelopmental disability with social skills, communication and/or behavioral deficits
  • Diagnosed more in boys (4:1). 1 in 54 children has it.
  • Diagnosed as early as 2 y.o., but usually later
  • Includes autistic disorder, pervasive dev. disord. not otherwise specified (PDD-NOS), and Asperger’s
  • Genetics may be linked to cause, or chromosomal conditions; older parents; drug exposure
  • OT works on self-regulation/sensory needs, adaptive skills, motor dev., social interaction, ADLs, play skills, gross/fine motor, classroom performance
  • ABA most common treatment, along with assistive tech (AT), TEACCH, nutrition
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4
Q

Cerebral Palsy (CP)

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  • Group of disorders that affect ability to move, maintain balance and posture
  • Most common motor disability in childhood
  • Classified by movement disorder and part of brain affected: - Spastic, Dyskinetic, Ataxia, Mixed Type
  • Caused by issue in brain develop., often around birth
  • Risk factors: low weight, fertility treatments, complications
  • Congenital=happened at birth, Acquired=after birth
  • Does not get worse over time, but symptoms change
  • Varied muscle tone, exaggerated reflexes (spasticity), rigidity, lack of balance/coord (ataxia), tremor, drooling, difficulty eating, delayed speech, learning disabilities
  • OT works on ADLs, physical, cognitive and social abilities; fine motor; posture; independence (with AT)
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5
Q

Down Syndrome

A
  • Present at birth; changes in mental/physical development; distinctive features and developmental delays, potential medical issues
  • Physical symptoms of flat face/almond eyes/short neck/small ears/protruding tongue/shorter
  • Lower intelligence and speech delays
  • Can have hearing loss, sleep apnea, ear infections, poor eyesight, heart defects
  • Caused by extra chromosome 21. Higher in older parents, genetic history
  • OT helps parent with feeding at birth; school-age independence, self-care, play, social skills, school performance, fine/gross motor. Helps with low muscle tone/loose joints and any visual/auditory deficits
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6
Q

Dyslexia

A
  • Learning disorder with difficulty reading due to problems identifying speech sounds
  • Affects areas of brain that process language
  • Usually not caught until school (teachers notice)
  • May have late speech, difficulty learning rhymes, read below level, difficulty with sequences and spelling/pronunciation
  • Runs in families; may increase with low weight/drugs
  • OT works on modifying teaching environment; IEP; enhancing child’s learning style
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7
Q

Fragile X Syndrome (FXS)

A
  • Named after Fragile X mental retardation gene; may have link to autism
  • Learning disability and speech delay
  • Shows large ears, long face, hyperactivity, low tone, sensory defensiveness, attention deficit, repetitive movements/speech, intellectual/language delays
  • Caused by Fragile X gene (FMR1) on X chromosome
  • Genetic disorder more common in males (due to XY)
  • OT works on ADLs, gross/fine motor, Process skills (sensory), social interaction
  • May take medication and other therapies
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8
Q

Guillain-Barre Syndrome

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  • Causes demyelination of peripheral nerves, causes temporary paresis/paralysis
  • Tingling, needles, pain in toes, ankles, wrists, fingers
  • Symptoms begin in arms/face
  • Muscle weakness on both sides of body (spreads from LE to UE)
  • Difficulty walking, breathing, swallowing, eyes/vision, blood pressure, bladder/digestion
  • More frequently seen in adults
  • Neurological autoimmune disease—no cause, but could begin after respiratory/gastro viral infection or after surgery
  • OT works with emotional toll/family; environmental support after discharge; upper body and ADLs; sensory; ROM/MMT; mobility; respiration; endurance
  • May take meds to assist rehab interventions
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9
Q

Hydrocephalus

A
  • Cerebrospinal fluid accumulates in brain; causes head to grow large
  • Headaches, impaired vision, cognitive difficulties, loss of coord., incontinence
  • Behavioral/cognitive changes, personality changes, school performance decline, delays in previously acquired skills (walking/talking)
  • Caused by imbalance in CSF production
  • Congenital=genetic; birth defects; complications at birth; infection while pregnant
  • Acquired=Brain/spinal cord tumors; CNS infections; Injury/stroke/bleeding in brain
  • OT works on ADLs (dressing; carrying objects; problem solving skills; coordination)
  • May have a shunt or lumbar puncture to drain CSF, or take diuretic
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10
Q

Juvenile Rheumatoid Arthritis (JRA)

A

• Describes several forms of chronic arthritis in children less than 16 where one+ joints demonstrate evidence of inflammation (swollen joints, limited ROM, warmth)
• 3 main types:
Pauciarticular=50% of cases, 4 or less large joints
Polyarticular=50% of cases, 5+ joints, more serious in smaller joints, often both sides of body. More girls.
Systemic=Most serious/least common. 1+ joints plus inflammation of organs (heart, liver, lymph nodes).
• May have flare-ups or chronic/continuous symptoms
• Symptoms may include: swollen joints, fever, rash, swollen nodes, eye inflammation, warmth/redness in joint, fatigue, slow growth/weight gain
• Causes unclear, may have genetic/environmental link
• Autoimmune disorder (body attacking itself)
• Girls more likely to have it than boys
• OT works with physical agent modalities (heat/cold), controlling edema/inflamm., exercises promoting gross/fine motor, ROM, endurance, strength to improve ADLs. Orthotics and energy conservation techniques may help control pain/function.
• JRA treated with meds, PT, OT and exercise

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11
Q

Limb Deficiencies

A
  • When child is missing part/all of arm, leg, hand or foot
  • Present at birth or sustained later due to disease/accident
  • Cause is unknown but prenatal exposures may be factor
  • OT may work with orthotic/prosthetics
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12
Q

Muscular Dystrophy (MD)

A
  • Genetic condition that causes muscle weakness/loss of muscle mass
  • Mutation in X chromosome
  • Multiple types of MD; most common=Duchenne
  • Causes pain/stiffness, falls, difficulty walking/standing, learning disabilities and developmental delays
  • OT works on preserving energy, assistive devices, muscle strengthening, ADLs
  • Medical treatments may slow progression/help symptoms but there is no cure
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13
Q

Obsessive-Compulsive Disorder (OCD)

A
  • Excessive urges to do things (compulsions) and intrusive, repetitive thoughts (obsessions)
  • Typically first appears in childhood/young adulthood
  • Symptoms interfere with functioning
  • Cause unknown, may be genetic (25% likely if in family); may be problem processing serotonin in brain
  • PANDAS=childhood OCD after reaction to strep infection. Extreme and sudden symptoms.
  • OT may help meds management, and help suppress symptoms with trigger mgmt, or specific tx based on type of OCD (hoarding, trichotillomania, etc.)
  • Treatment may include antidepressants and/or Exposure and Response Prevention (ERP)-cog. behavioral method to control triggers
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14
Q

Osteogenesis Imperfecta (OI)

A
  • “Brittle Bone Disease” - genetic disorder affecting bones; affects 2 genes for collagen production
  • No cure; treatment helps symptoms
  • 19 types; can include easily broken bones, deformities, barrel chest, discolored eyes, triangular face, muscle weakness, easy bruising, hearing loss (adult), soft discolored teeth
  • Type I (mild) to Type V (Medium-Severe)
  • OTs work on fine/gross motor dev., avoiding injuries, brittle teeth/feeding, social/play skills, independence and self-care
  • May take meds for bone strengthening/fracture prevention
  • PT, OT, orthopedic braces/assistive devices, metal rod insertion
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15
Q

Pediatric AIDS

A
  • Acquired Immunodeficiency Syndrome in children
  • Caused by HIV; severe damage to immune system (children born with weaker immune system, so more severe illness)
  • Varies by person/age. May look like flu at first.
  • Causes physical/dev. delays, poor weight gain/growth, enlarged lymph nodes, lack of energy, frequent fevers, yeast inf., rashes, short-term memory loss
  • 90% of cases through vertical transmission from mother (pregnancy, breastfeeding)
  • OT works on psychosocial dev., play, sensorimotor, cognition, self-care (feeding), and enhancing child-caregiver interaction (awareness)
  • Treatments slow progression (meds, Antiretroviral Therapy (ART) to reduce HIV concentration in blood)
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16
Q

Pediatric Schizophrenia

A
  • Severe mental health disorder in younger than 13, affects the way they deal with reality; abnormal sense of reality
  • Affects cognitive function, behavior, emotions
  • Difficult to see in babies, but may include: delays in crawling/talking, unusual posture, long sluggish periods, abnormal motor behaviors (floppy limbs, rocking)
  • Unable to discern betw reality and dreams/tv/etc.
  • Delusions, auditory hallucinations, anxiety
  • May have connection to genetics or complications in pregnancy
  • OT aims to help improve functioning in meaningful activities, rather than symptoms. Promote social-emo learning, dealing with stress, collaborate with family/education personnel
  • May take antipsychotic meds, cog therapy
17
Q

Rett Syndrome

A
  • Genetic neurological disorder affecting girls (very rarely in boys, they are stillborn). Detected at 6-18 mo.
  • Affects speech, mobility, eating, and breathing
  • Constant and repetitive hand movements
  • Decelerating growth rate for head, feet, hands
  • Seizures, sleep problems, scoliosis
  • Rare genetic disorder, mutation to MECP2 gene; rarely inherited, cause unknown
  • OTs support meaningful occupations for deteriorating condition; loss of hand use; self-care and ADLs; communcating with assistive devices
  • Some meds may control symptoms; requires routine medical care/therapies
18
Q

Spina Bifida

A

• Affects spine, apparent at birth. Neural tube defect that can happen anywhere along spine if tube doesn’t close. Backbone protecting spinal cord doesn’t form, causing damage to spinal cord and nerves
• May cause physical and intellectual disabilities from mild to severe, depending on size/location of opening and which part of spinal cord/nerves are affected
• 3 Subtypes: OCCULTA=12% of cases; “hidden” SB, no opening in back; may have no disturbance.
MENINGOCELE=bones do not close around spinal cord, meninges push out into fluid-filled sac. Rarest form; sac may require surgery.
MYELOMENINGOCELE=75% of cases, most severe; spinal cord protrudes out back; tissues/nerves may be exposed. Ranges from incontinence to paralysis.
• Cause unknown, but genetics/environment involved. Take folic acid, watch meds/supplements and health conditions like fevers/diabetes/obesity during preg.
• OTs work on concentration, memory, problem-solving, organization, handwriting, ADLs like dressing, movement issues (walking, etc.)
• Detection: AFP (alpha-fetoprotein) blood test during preg. High AFP may mean spina bifida. Also, ultrasound to view or amniocentesis to check AFP. For babies, tx can include imaging, surgery.

19
Q

Turner Syndrome (TS)

A
  • Female-only disease affecting 2nd X chromosome either missing or altered
  • Various symptoms like short stature, delayed puberty/infertility, edema in hands/feet, broad, short neck and fetal cystic hygroma (neck webbing), learning deficits, but not affecting intelligence
  • Can affect bones, hearing, heart, thyroid, kidney and more.
  • Diagnosed by blood test
  • Cause unknown, happens randomly in gene chain; 98% of pregnancies with TS end in miscarriage (2% that live are miracle babies!)
  • OTs focus on age-approp abilities in sensory processing, gross/fine motor, social reg, ADLs, learning deficits; poor coord./walking
  • May be treated with hormone therapy, meds, hearing aids
20
Q

Williams Syndrome

A
  • Genetic condition at birth with wide spectrum of medical problems/physical features. Equal in both sexes. Low birthweight, slow growth, poor feeding, colic
  • Facial features: microcephaly, puffy eyes, full cheeks/lips, short chin, broad nose, prominent mouth
  • Skilled verbal skills/communication; highly social
  • Limbic system disregulates oxytocin; lack of fear
  • Cardiac abnormalities, musculoskeletal issues, elevated calcium, dental issues, eye conditions, motor delays and behavioral issues
  • Caused by deletion of 26-28 genes on a chromosome at conception; hereditary
  • OTs work on emotional reg. and sensory processing; executive function, motor control/planning
  • Treated with multidisciplinary medical team based on symptoms
21
Q

Categories of Paralysis

A

Monoplegia: one extremity
Hemiplegia: upper and lower extremities on one side of body
Diplegia/Paraplegia: both lower extremities
Quadriplegia: all limbs
Tetraplegia: all limbs plus head/neck

22
Q

Types of CP

A

Cerebral Palsy can be:

Spastic= hypertonia, muscle spasticity, clonus, persistent primitive reflexes, can show as involvement of various limb(s)

Dyskinetic= typically quadriplegic involvement, abnormal movements, one movement unintentionally moves other muscle groups, slow/writhing mixed with abrupt/jerky. There are 3 types of dyskinetic CP:

  • Athetoid (fluctuations of muscle tone, no spasticity, poor flex/ext coord)
  • Choreoathetoid (fluctuations in tone with jerky movement more distally)
  • Dystonic (sustained twisted postures absent at rest/movement-triggered)

Ataxia= less effect on muscle tone, greatly affected balance/coord, typically quadriplegic, more voluntary control but clumsy, tremors

Mixed Type= combos of high/low tone problems (like hypertonic motions with hypotonic trunk), typically quadriplegic