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Clinical Med (Year 2) > Developmental Disorder (Exam 1) > Flashcards

Developmental Disorder (Exam 1) Flashcards

1
Q

What is an incidence?

A

of new cases in a given time frame

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2
Q

What is prevalence?

A

if individuals who currently have the disease

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3
Q

What is prenatal?

A

before birth

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4
Q

What is perinatal?

A

As child is being born

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5
Q

What is postnatal?

A

After birth

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6
Q

What vitamin is important for pregnant women to have in their diet?

A

Folic Acid

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7
Q

What is anencephaly?

A

Neural tube defect- Cephalic end of neural tube fails to close

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8
Q

What physical deficits does anencephaly cause?

A

Absence of forebrain, cerebrum, skull & scalp

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9
Q

What system deficits may occur from anencephaly?

A

May have respiratory function from brainstem, no consciousness. blind or deaf

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10
Q

What is the prognosis for a child with anencephaly?

A

Stillborn or will usually die within hours or days after birth

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11
Q

What is microcephaly?

A

Circumference of head is significantly smaller than average for age and gender
- Face continues to develop at normal rate while head fails to grow

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12
Q

What is the prognosis of microcephaly?

A

Poor for normal brain function
- Decreased life expectancy

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13
Q

What deficits may occur from microcephaly?

A

Motor abilities range from clumsiness to spastic quadriplegia

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14
Q

What is porencephaly?

A

Cyst like cavities form in a cerebral hemisphere

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15
Q

What can cause porencephaly?

A

Result of destructive lesions or abnormal development

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16
Q

What is the presentation of porencephaly?

A

Hemiplegic type presentation, delayed development, seizures, hydrocephalus, intellectual disability

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17
Q

What is the prognosis of porencehpaly?

A

Depends on location and extent of lesion

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18
Q

What is lissencephaly?

A

Means smooth brain, lack of normal convolutions in brain

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19
Q

What can cause lissencephaly?

A

Defective neuronal migration (nerve cells move from place of origin to permanent location) during development

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20
Q

What are the symptoms of lissencephaly?

A

Failure to thrive, seizures, severe motor retardation, difficulty swallowing, anomalies of hands, finger and toes

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21
Q

What is the prognosis of lissencephaly?

A

Many die before age 2, range of near normal development & cognition to no significant development past 3-5 month old level

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22
Q

What is gestational age? And what is the typical gestation?

A
  • Amount of time spent in utero
  • 40 weeks
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23
Q

How many weeks does a child need to be in utero to be consider full term, preterm & post term?

A

Full: 37-42
Preterm: < 37
Post - term: >42

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24
Q

How many weeks does a child need to be in utero before they are consider high risk? Moderate risk? Not at high risk?

A

High risk: Below 28
Moderate: 28-32
Low: 32-36

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25
Q

Developmentally up to what age can we correct prematurity up to?

A

1 year

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26
Q

What is tested in regards to APGAR?

A

Heart rate
Respiratory effort
Muscle tone
Reflex
Color

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27
Q

What weight is considered to be full term, low, very low, and extremely low?

A

Full term: 2500-4100 grams (5.5-9.0lbs)
Low: <2500 grams (3.3 - 5.5lbs)
Very low: <1500 grams (2.2- 3.3lbs)
Extremely low: <1000 grams (<2.2lbs)

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28
Q

What does SGA stand for?

A

Small for gestational age
(below 10th percentile)

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29
Q

What does LGA stand for?

A

Large for gestational age
(above 90th percentile)

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30
Q

What is meconium?

A

Substance in fetus/newborn’s large intestine at time of birth

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31
Q

What are some reasons that meconium may be eliminated while still in utero or birth canal?

A
  • Increase size of fetus (LGA)
  • Post term infants
  • Prolongs & difficult delivery
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32
Q

What can happen if meconium is eliminated too early?

A

Aspiration of substance can cause significant damage to pulmonary system and lead to more significant problems including brain damage due to hypoxia/anoxia

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33
Q

What is Erb palsy?

A

Paralysis of the upper extremity due to a traction injury to brachial plexus at birth

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34
Q

How does Erb Palsy occur?

A

Stretching of the brachial plexus during the birth process

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35
Q

What is affected in Erb-Duchenne palsy and what it is associated with?

A
  • C5 to C6 nerve roots
  • Increased birth weight & vertex delivery with shoulder dystocia
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36
Q

What is affected with whole arm palsy?

A

C5-T1 (whole plexus)

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37
Q

What is affected with Klumpke palsy?

A

C8-T1

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38
Q

What are some causes of Klumpke palsy?

A
  • Often due to manipulation of the baby during birth causing hyperabduction of shoulder
  • Heavy sedation or mother, difficult/breech delivery, face down (Occiput anterio)
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39
Q

What muscles loose strength if a patient has Erb Palsy?

A

Loss of strength in deltoid, Supraspinatus, infraspinatus, trees minor, biceps, brachialis, brachioradialis & supinator

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40
Q

What position does the arm remain if the patient has Erb Palsy?

A

Shoulder adducted & IR
Forearm pronated
Fingers flexed

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41
Q

Where does sensory loss occur during Erb Palsy?

A

In C5- C6 dermatome

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42
Q

In klumpke palsy what muscles are involved?

A

Wrist flexors
Long finger flexors
Hand intrinsics

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43
Q

What appearance will the hand have in Klumpke Palsy?

A

Claw hand

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44
Q

What is the prognosis of Erb Palsy?

A

No antigravity elbow flexion by 3 months = poor recovery
- 53% near normal function
- An additional 39% good functional revcovery

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45
Q

What is syphilis and how can it get transmitted from mother to child?

A

Sexually transmitted bacteria that can be passed to mother to fetus via placenta

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46
Q

What is the death rate of children who get syphilis from their mother?

A
  • 25% fetal death by 2nd trimester
  • 25% die soon after birth
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47
Q

What is the clinical presentation of children who have syphyliis when they are born and survive?

A
  • 25% show jaundice, anemia, pneumonia, skin rash & bone inflammation
  • 75% no signs at birth but later will manifest abnormalities of teeth, blindness, skeletal anomalies, intellectual disability, deafness
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48
Q

How is syphilis diagnosised and managed?

A
  • blood test
  • Antibiotics (penicillin)
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49
Q

What is toxoplasmosis ?

A

Protozoan present in cat feces

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50
Q

What can occur in utero if a child develops toxoplasmosis?

A

Spontaneous abortion or premature delivery

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51
Q

What characterizes infants who are affected with toxoplasmosis?

A

Characterized by LBW, enlarged liver/spleen, jaundice, anemia

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52
Q

What other diagnosises may an infant get if born with toxoplasmosis?

A
  • Hydrocephalus
  • Microcehpahly
  • calcification in the brain
  • Intellectual disability
  • Seizures
  • Cerebral palsy
  • Diseases of Reina causing blindness
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53
Q

How is toxoplasmosis diagnosed?

A
  • Suspect in any infant showing signs of congenital infection
  • confirmed with blood test
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54
Q

What is the management of toxoplasmosis?

A

Anti-protozoan medication used during newborn period may prevent further damage

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55
Q

What is HIV?

A

Infection by human immunodeficiency virus

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56
Q

What is the clinical picture of infants with AIDS?

A
  • Opportunistic infections
  • Pneumonitis
  • Microcephaly
  • Neurologic abnormalities
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57
Q

How is HIV diagnosed and managed?

A
  • Blood test
  • Managed by a variety of drug therapies to address HIV and other meds to address opportunistic infections
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58
Q

What is the pathophysiology of rubella?

A

Togavirus which multiples in upper respiratory tract and passes into blood stream via cervical lymph nodes

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59
Q

What is the clinical pictures of rubella?

A
  • May cause spontaneous abortion
  • Blindness, deafness, ID, LBW, rash
  • Heart defects, enlarged liver/spleen, microcephaly, cataracts, micropthalmia
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60
Q

What is the clinical picture of a newborn specifically with rubella?

A

lethargic, inactive, opisthotonos posture (extension), seizures, thyroid disease, diabetes

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61
Q

How is rubella diagnosed and managed?

A
  • Blood test
  • Can’t reverse damage, best to prevent before it even happens
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62
Q

What can cytomegalic inclusion disease in an infant present as?

A
  • LBW, jaundice, rash, micropthalmia, disease of retina, deafness, developmental delay
  • Or intrauterine death or premature death
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63
Q

How is cytomegalic inclusion disease diagnosed and managed?

A
  • Blood test
  • No specific treatment
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64
Q

How is Herpes transmitted from mother to fetus?

A

-Neonatal rather than through placentas
- Often transmitted during birth when mother has active genital herpes

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65
Q

What is the clinical picture of an infant with mild case of herpes?

A

Disease of skin and mucus membranes of eyes & mouth

66
Q

What is the clinical picture of an infant with a severe case of herpes?

A

Involves body organs including brain, microcephaly, retinal disease, development delay

67
Q

How is herpes diagnosed and when will an infant show signs of infection?

A
  • Diagnosis by isolation of virus and other lab tests
  • Infants show signs 5-9 days after birth
68
Q

What is the medical management of herpes?

A
  • Antiviral meds reduce number of deaths, but severe brain damage occurs even with treatment
  • Best to identify prior to birth and attempt C section
69
Q

What is a teratogen?

A

Chemical or substance in environment that is exposed to mother and effects the baby

70
Q

What environmental teratogen causes feet or hands to be attached to trunk by short irregular shaped stumps resembling fins of a seal?

A

Thalidomide - was used as sleeping pill

71
Q

What environmental teratogens can cause brain and craniofascial anomalies or death if taken during pregnancy?

A

Acutain - used for cystic acne

72
Q

What can neonatal abstinence syndrome looks like?

A
  • Body shakes, seizure, overactive reflexes & increased muscle tone
  • Fussiness, excessive crying or having a high pitched cry
  • Poor feeding or sucking or slow weight gain
  • Breathing problems, including breathing really fast
  • Fever, sweating or blotchy skin
73
Q

What constitutes as failure to thrive?

A

Weight consistently below 3rd percentile

74
Q

What are some reasons for failure to thrive?

A

Organic (growth inhibiting disorder)
Non organic (environmental neglect)
Mixed

75
Q

If a baby is born before 29 weeks of gestation what impact can that have on the respiratory function?

A
  • Surfactant not produced yet and alveolar development and lung maturation are not complete until 35 weeks gestation
  • Therefore, this creates chance for hypoxia, anoxia, adequate oxygen delivery, causes alteration in blood pressure
76
Q

What is the germinal matrix and how long does it remain?

A

-Thin & fragile mesh work of blood vessels forms in floor of lateral ventricle at 24-25 weeks gestation
- Remains until 35th weeks

77
Q

What can happen to the germinal matrix if the baby is born prematurely?

A
  • Baby can not maintain homeostasis therefore,
    Spikes in BP
    Changes in temp
    Changes in respiration
  • All can cause rupture of germinal matrix
78
Q

What causes an intraventricular hemorrhage?

A
  • Difficulty regulating respiration
  • Abrupt changes in BP
  • Collapse or rupture of vessels in germinal matrix
  • Leakage of blood and CSF into periventricular region
  • Fluid may be reabsorbed or encapsulated forming cysts
79
Q

What is a grade 1 IVH?

A

bleeding confined to small area where it first began

80
Q

What is a grade 2 IVH?

A

blood is also within ventricles

81
Q

What is a grade 3 IVH?

A

More blood in ventricles, usually with ventricles increasing in size

82
Q

What is a grade 4 IVH?

A

collection of blood within brain tissue

83
Q

Is there a cure for IVH?

A

No, just need to help baby maintain homeostasis

84
Q

What grades of IVH are at an increased risk of brain damage?

A

Grade 3 & 4

85
Q

What is common complication if an IVH is managed surgically?

A

Hydrocephalus

86
Q

What is usually the outcome for IVH grade 1?

A

Neurodevelopment disability similar to premature infants without IVH

87
Q

What is usually the outcome for IVH grade 2-3?

A

-Neurodevelopmental disability in 40%
- Mortality 10%
- Progressive hydrocephalus in 20%

88
Q

What is usually the outcome for severe IVH?

A
  • major neurodevelopment disability in 80%
  • Mortality rate 50-60%
  • Hydrocephalus common in survivors
89
Q

What does BPD stand for?

A

Bronchopulmonary Dysplasia

90
Q

What does RDS stand for?

A

Respiratory Distress Syndrome

91
Q

What is retinopathy of prematurity?

A

eye not fully developed

92
Q

What is necrotizing enterocolitis?

A

-Significant inflammation of GI system leading to rupture

93
Q

What is hyperbilirubinemia?

A

red blood cells being damaged & not being maintained in body

94
Q

What is the definition of Cerebral Palsy?

A
  • Not a disease but category of developmental disabilities w/ an early onset
  • Non progressive CNS deficit
95
Q

Cerebral Palsy is a non-progressive CNS deficit, so what does this result in relative to impairments?

A
  • Motor impairments and sensory abnormalities
96
Q

What is the most common motor disability in childhood?

A

Cerebral Palsy

97
Q

What are the causes of CP?

A
  • No one cause
  • Can be: Congenital, Acquired or Genetic
98
Q

For CP to be congenital what are some prenatal causes?

A
  • Hereditary (Rh compatibility)
  • Infection (Metabolic disorders)
  • Anoxia (Errors in brain development)
  • Jaundice
99
Q

Which is the greatest predictor outcome for CP? Gestational age or size?

A
  • Gestational age rather than size is greatest predictor of future outcome
100
Q

For CP to be congenital what are some perinatal causes?

A
  • Compression of brain or rupture of blood vessels during prolonged or difficult deliveries
  • Asphyxia - drug induced, premature separation of placenta, mechanical obstruction
  • Problems associated with post maturity
101
Q

What is acquired CP a result of?

A

Brain damage in first few months to years of life

102
Q

What are some ways acquired CP is caused by?

A
  • Brain infection
  • Head Injury
  • Seizures, tumors, near drowning
  • Intracranial hemorrhage, vascular accidents
103
Q

Relative to the Classification of CP what is monoplegia?

A

One extremity

104
Q

Relative to the Classification of CP what is diplegia?

A

Severe involvement of LE & less of UE

105
Q

Relative to the Classification of CP what is Hemiplegia?

A

Left or Right side involvement

106
Q

Relative to Classification of CP what is quadriplegia/ Tetraplegia?

A

Involvement of all 4 extremities & trunk

107
Q

Relative to Classification of CP by motor impairments, spastic is a result of damage to?

A

Motor cortex or projections to and from sensorimotor cortex - pyramidal system

108
Q

What is spasticity?

A

Increased resistance to stretch

109
Q

Relative to Classification of CP by motor impairments what is hypotonic?

A

Decreased tone and ability to generate muscle force

110
Q

Relative to Classification of CP by motor impairments what is dyskinetic?

A
  • Intermittent tone in extremities and trunk
  • Involuntary movement patterns
111
Q

Dyskinetic results from damage too?

A

Basal ganglion

112
Q

Relative to Classification of CP by motor impairment what is ataxic?

A

General instability of movement

113
Q

Ataxic is a result of damage to?

A

Cerebellum

114
Q

General clinical Picture of Children with CP:
1. (BLANK) to reach milestones
2. (BLANK) muscle tone
3. (BLANK) reflex development
4. Description of Posture?
5. What sensory impairments?
6. Cognitive impairments?

A
  1. Slow
  2. Abnormal
  3. Atypical
  4. Unusual posture or favor one side of body
  5. Proprioception, vision, hearing & others
  6. With or without
115
Q

How is CP diagnosed?

A
  • Assessment of motor skills
  • Examination of history
  • Rule out other disorder which can cause motor problems
  • Establish non- progressive nature of problem
116
Q

What diagnostic tests can be used for diagnosing CP?

A
  • CT
  • MRI
  • Ultrasound
117
Q

What is the prognosis of CP?

A
  • Non progressive disorder
  • Lesion within the brain are not increasing in size or severity of damage to surrounding tissues
  • Child may appear as though the condition is worsening they grow and develop
118
Q

What is fetal alcohol syndrome?

A

Constellation of abnormalities directly related to alcohol ingestion during pregnancy

119
Q

What is the pathophysiology of fetal alcohol syndrome?

A
  • Direct effect of alcohol on developing organs
  • Genetic predisposition or poor nutrition may be factor
  • May damage fetus anytime during pregnancy
  • No established amount of alcohol pregnant women can safely consume
120
Q

Fetal Alcohol Syndrome fascial dysmorphology is characterized by?

A
  • Microcephaly, small wide set eyes, thin upper lip
  • Shortened upturned nose, receding chin
  • Drooping eyelids, cleft palate, small mouth
  • Wide space b/w nose & upper lip
121
Q

What is the clinical picture of fetal alcohol syndrome?

A
  • Pre & post natal growth deficiency
  • Facial dysmorphology
  • Muscle changes, visual disturbances, congenital heart disease, behavior problems
122
Q

What 3 criteria must be met in order to receive a diagnosis of FAS?

A
  • Characteristic fascial features
  • Growth retardation
  • Central nervous system neurodevelopment abnormalities
123
Q

In regards to diagnosis of FAS what are the characteristic facial features?

A
  • Flattened midface
  • thin upper lip
  • Indistinct/absent philtrum
  • Short eye slits
124
Q

In regards to diagnosis of FAS how is growth retardation characterized?

A
  • Lower birth weight
  • Disproportional weight not due to nutrition
  • Height and/or weight below 5th percentile
125
Q

In regards to diagnosis of FAS how is Central nervous system neurodevelopment abnormalities characterized?

A
  • Impaired fine motor skills
  • Learning disability
  • Behavior disorder or a mental handicap
126
Q

While the true cause of Reye’s syndrome is unknown what are some potential causes?

A
  • Acute viral infection
  • Associated w/ aspirin use
  • Exogenous toxin or intrinsic metabolic defects
  • Acute encephalopathy & fatty degeneration of viscera or meninges
127
Q

What is the clinical picture of Reye’s syndrome?

A

Fever, rhinorrhea, sore throat, cough, abdominal pain, diarrhea, rash

128
Q

In Reye’s syndrome onset of encephalitis may occur what is the progression from that?

A

Encephalitis –> mild amnesia –> lethargy –> disoriented/agited –> coma & unresponsive –> decorticate or decerebrate posture

129
Q

How is Reye’s syndrome diagnosed?

A
  • Significant increase in sera ammonia levels
  • Presentation usually follows acute viral infections
130
Q

What is the medical management of Reye’s syndrome?

A
  • Peritoneal dialysis, blood transfusion. restoration of blood levels. IV electrolytes, endotracheal tube & controlled ventilation, meds to overcome urea cycle deficiency & intracranial pressure
131
Q

What population is Rett syndrome prevalent in?

A

Females - lethal to males

132
Q

What is the clinical picture of Rett syndrome?

A

Period of normal development to 6 month with deterioration between 6- 18 months

133
Q

Individuals with Rett syndrome have normal size at birth w/ decreased rate of growth then what is the presentation after that?

A
  • Loss of acquired behavior/social/psychomotor skills
  • Severe/profound ID, loss of language skills
  • Loss of purposeful hand skills, replaced by stereotypic hand wringing, clapping, waving & mouthing
134
Q

How is Rett syndrome diagnosed?

A
  • Via clinical presentation, often misdiagnosed
135
Q

How is Rett syndrome managed?

A

Seizure meds

136
Q

The pathophysiology of Tourette’s Syndrome is unknown but what may it be associated with?

A

Psychological problems, encephalitis, tics (habitual spasms)

137
Q

What is the clinical picture of Tourette’s Syndrome?

A

Habitual spasms, vocal noises, coprolalia, abnormal EEG

138
Q

When is the onset of Tourette’s Syndrome?

A
  • Onset 2-13 y/o and may increase in severity in childhood and resolve in adulthood
139
Q

How is Tourette’s Syndrome diagnosed?

A

Via clinical picture

140
Q

How is Tourette’s Syndrome managed?

A
  • Medications: sedatives, dopamine blockers, haloperidol to block tics
  • Psychotherapy
141
Q

What is an intellectual disability?

A

-Characterized by significant imitation in both intellectual functioning and in adaptive behavior, which covers many everyday social & practical skills
- Originates before age of 18

142
Q

What is the classification for intellectual disability based on IQ
- Mild
- Moderate
- Severe
- Profound

A

Mild 52-68
Moderate 36-51
Severe 20-35
Profound <20

143
Q

What is the intellectual disability medical classification based on ?

A

Degree of severity of intellectual impairment (IQ)

144
Q

What is the intellectual disability educational classification based on?

A

Support needed for functional tasks/educational success

145
Q

What is the etiology for intellectual disability?

A
  • Infections/toxins
  • Trauma
  • Metabolic/nutrition deficits
  • Errors of brain formation
  • Environmental deprivation
  • Neonatal disorders
  • Seizures
  • Chromosomal abnormalities
146
Q

What is the difference between hyporesponsive vs hyper responsive in regards to intellectual disability sensory impairments?

A
  • Hypo responsive the individual will see out the sensory sensation
  • Hyper responsive will cause the individual to produce negative thought and they would want to get away from it all costs
147
Q

What are some sensory impairments an individual with intellectual disabilities will exhibit?

A
  • Visual
  • Auditory
  • Tactile
  • Vestibular
  • Self stimulatory behavior
148
Q

What is a learning disorder?

A

Inability to acquire, retain, or generalize specific skills or sets of information because of deficiencies in attention, memory, perception or reasoning

149
Q

Learning disabilities are presumed to caused by? and not the direct result of?

A
  • Caused by CNS dysfunction
  • Not direct result of other disease processes or environmental influences, but may occur concomitantly with other diseases processes/conditions
150
Q

What is the clinical picture for ADHD?

A
  • Inattention
  • Hyperactivity
  • Impulsivity
  • Motor incoordination
  • Perceptual motor dysfunctions
  • Emotional lability, opposition, anxiety, aggressiveness, mood swings
  • Poor social skills & peer relationships, sleep disturbances
151
Q

At what age is the onset of ADHD? And what is the typical age of referral to MD?

A
  • Onset typically before 4 y/o
  • Referral about age 8-10 y/o
152
Q

How is ADHD diagnosed?

A
  • Difficult
  • Need to rule out other developmental disorders/ behavior disorders
  • Considered a psychiatric disorder
153
Q

What is the prognosis of an individual with ADHD?

A

Child with ADHD becomes an adult with ADHD

154
Q

How is an individual with ADHD managed medically?

A
  • Medication (ritalin & adderall)
  • Counseling
155
Q

What are some synonymous terms for developmental coordination disorder (DCD)?

A
  • Developmental clumsiness
  • Clumsy child
  • Developmental apraxia
156
Q

What is the pathophysiology of DCD?

A

No specific pathological process or single neuroanatomic site implicated

157
Q

What is the clinical picture DCD?

A
  • Poor strength, poor coordination, jerky movements, poor visual perception
  • Joint laxity, poor spatial organization, poor LTM & STM, poor sequencing & feedback
  • Low self esteem, distractibility, delay & poor quality of gross motor skills
158
Q

What is Autism Spectrum Disorder (ASD) defined by?

A
  • Developmental disorder that affects communication & behavior
  • Affects thought, perception & attention
  • Broad spectrum of disorders ranging from mild to severe
159
Q

What is the symptoms of ASD?

A
  • No specific or defined set of sxm
160
Q

How is ASD diagnosed?

A
  • DSM 5 Psychiatric Diagnosis
  • Difficulty with communication & interaction with other people
  • Restricted interests & repetitive behaviors
  • Sxm that hurt person’s ability to function properly in school, work & other areas of life

Clinical Med (Year 2) (17 decks)

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