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Genetic disorders Flashcards

1
Q

What is Down Syndrome?

A
  • Genetic disorder where a person has a full or partial extra copy of chromosome 21
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2
Q

GI disorders associated with Down Syndrome

A
  • Hirschprung disease - nerve cells in part of colon do not form correctly
  • Duodenal atresia - part of duodenum fails to form
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3
Q

Physical characteristics of Down Syndrome

A
  • Flattened face
  • Almond shaped
  • Brushfield spots - tiny white or greyish-brown spots on the iris
  • Protruding tongue
  • Small dysplastic ears
  • Short neck
  • Small hands and feet
  • Single palmar crease
  • Hypotonia and joint hypermobility
  • Short stature
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4
Q

Medical issues associated with Down Syndrome

A
  • Thyroid disease
  • Anemia
  • Hirschsprung disease
  • Celiac disease
  • Congenital heart defects of atrial or ventricular walls
  • Obstructive sleep apnea
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5
Q

Associated disorders with Down Syndrome

A
  • ASD
  • Leukemia
  • Parkinson’s Disease
  • Alzheimer’s/dementia
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6
Q

Intellectual impairments with Down Syndrome

A
  • Language deficits
  • Average IQ is 50 (range 30-70)
  • Majority of people with Down Syndrome are capable of self-care and vocational tasks
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7
Q

Sensory impairments with Down Syndrome

A
  • Visual deficits (myopia, astigmatism, esotropia, cataracts, nystagmus)
  • Hearing impairments
  • Neural - missing cochlear hair cells
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8
Q

MSK issues with Down Syndrome

A
  • AA joint instability
  • Loss of strength
  • Hip dislocation
  • Pes planus
  • Scoliosis
  • Torticollis
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9
Q

Neurological signs with Down Syndrome

A
  • Babinski and clonus
  • Sensory changes
  • Loss of bowel and bladder control
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10
Q

Motor control/development characteristics with Down Syndrome

A
  • Cerebellar alterations - motor learning difficulties
  • Motor development - slow acquisition of motor milestones
  • Hypotonia - decreased rotation, hanging on ligaments
  • W sitting, bunny hopping, sit and scoot
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11
Q

Outcom measure for Down Syndrome?

A
  • Gross motor function measure (GMFM)
  • Norm-referenced for children with Down Syndrome
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12
Q

Interventions for hypotonia for Down Syndrome

A
  • Hip helpers
  • Orthoses
  • Treadmill training
  • Vibration platform
  • Strengthening
  • Aerobic conditioning
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13
Q

What is Cri-du-Chat?

A
  • Deletion of part of segment of chromosome 5
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14
Q

Facial characteristics of Cri-du-Chat

A
  • Low set ears, wide set eyes
  • Flat, wide nasal bridge
  • Short distance from nose to upper lip
  • Downward slanting eyes with vertical eye folds
  • Strabismus - crossed eyes
  • Small jaw
  • Potential for cleft palate/lip
  • Early whitening of the hair
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15
Q

MSK issues with Cri-du-Chat

A
  • Clubfoot
  • Hip dislocation
  • Joint hypermobility
  • Scoliosis
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16
Q

Cri-du-Chat behavioral/functional characteristics

A
  • Delayed growth and development
  • Hypotonia
  • Intellectual disability and short attention span
  • Speech/language delays
  • Self-injurious behavior
  • Hypotonia progresses to hypertonia
  • Rounded face progresses to thin face
17
Q

What is Prader Willi syndrome?

A
  • Partial delection of long arm of chrosome 15 from father
18
Q

Characterics of Prader-Willi Syndrome Characteristics

A
  • Obesity
  • Short stature
  • Insatiable appetite
  • Hyperphagia
  • Delayed development ( 12 months to sitting, 24 months to walking)
  • Cognitive impairment - avg IQ 70
  • Tempure tanttrum
  • Self injurious behavior
  • OCD
  • Labilty
19
Q

What is Angelman syndrome?

A
  • Partial deletion of part of chromosome 15 from mother
20
Q

Characteristics of Angelman syndrome

A
  • Intellectual disability
  • Autistic behaviors
  • Hyperactivity
  • Developmentally plateau ~24-30 month level
  • Axtaxia
  • Seizures
  • Severe speech difficulty
  • Excessive drooling
  • Progressive microcephaly
  • Happy affect
  • Hypopigmentation
  • Sleep disturbances
  • Fascination with water, music, shiny objects
21
Q

Motor characteristics of Angelman syndrome

A
  • Truncal hypotonia
  • Distal extremity hypertonia and hyperreflexia
  • Movement disturbances
  • Impaired balance
  • Delayed acquisition of motor skills (walking at 2-6 years)
  • Jerkiness of movement
  • Ataxis gait
  • Tremors
22
Q

What is lissencephaly?

A
  • Gene-linked disorder of neural migration
  • Lack of cortical sulci and small head size
  • Brain fails to grow after birth
23
Q

Medical issues with lissencephaly

A
  • Seizures
  • Hydrocephalus
  • Life expectancy of 10 yrs or less
24
Q

Motor impairments of lissencephaly

A
  • Only develop to about the 5 month level (rolling and sitting)
  • Hypotonia
  • Difficulties with balance

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